Sugi Variant

Sugi Variant/AFG2A

AFG2A — 879 ClinVar variants

All ClinVar germline AFG2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 385 flagged for review →

53 Pathogenic · 13 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 29 Conflicting · 49 Benign · 4 Benign/Likely benign · 319 Likely benign · 380 Uncertain significance

Full AFG2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 385

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 182

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 182

Predictors split 183

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 183

All AFG2A variants

Pathogenic 53

  • c.1714+1G>A Multiple submitters Monogenic hearing loss
  • p.Arg84Gln Multiple submitters neurodevelopmental disorder ⚠
  • p.Arg84Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn525fs Multiple submitters syndromic complex neurodevelopmental disorder
  • p.Gln132Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln583Ter Multiple submitters ciliary dyskinesia, primary, 37
  • p.Leu536fs Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro669fs Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+1G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala141fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala547fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala680Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala716fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg186Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg194Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg655fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn262fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn607fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp199fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp588fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Cys318Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln130Ter Single submitter
  • p.Gln221Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln234Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln344Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln347fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln527Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu285Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu29Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu804fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly558Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile155fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile418fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile521fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile788fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu358Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu567fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu769fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys4Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys535Ter Single submitter
  • p.Lys565Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys581Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys662Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met144fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met282fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met354fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro695fs Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser37Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser448Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser739fs Single submitter Inborn genetic diseases
  • p.Tyr559Ter Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala100Thr No assertion criteria microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu711fs No assertion criteria microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Pathogenic/Likely pathogenic 13

  • p.Ala742fs Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala844Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg445Ter Multiple submitters AFG2A-related disorder
  • p.Arg510Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg514Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg529Gln Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg538Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg655Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp628Gly Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln604Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly357_Leu358insTer Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly357Ter Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr330del Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Likely pathogenic 32

  • c.2079+1dup Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.446+1G>A Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly185Glu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • c.1147+1_1147+5del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+2T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1458+1G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-11_1478del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-1G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-1053_446+1328dup Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-1G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1869+1G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2080-2A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+1_2340+5del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-2A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala682Val Single submitter
  • p.Arg514Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg774Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg784Gln Single submitter ⚠
  • p.Arg84Pro Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp608del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp628Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile172fs Single submitter AFG2A-related disorder
  • p.Ile355Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile692Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met481Thr Single submitter
  • p.Phe725Ser Single submitter neurodevelopmental disorder
  • p.Pro102Ser Single submitter
  • p.Pro795Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ser722_Ile723insTer Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Trp626Cys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Val766Met Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp588Ter No assertion criteria microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Conflicting classifications of pathogenicity 29

  • c.1278-10T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-4A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2080-4G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala24Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg655Gln Single submitter syndromic complex neurodevelopmental disorder ⚠
  • p.Arg714Ter Single submitter AFG2A-related disorder
  • p.Arg774His Single submitter syndromic complex neurodevelopmental disorder ⚠
  • p.Arg802Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg879His Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp213Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp277Val Single submitter Inborn genetic diseases ⚠
  • p.Gly299Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly694Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile314Val Single submitter Inborn genetic diseases ⚠
  • p.Leu740Ser Single submitter Inborn genetic diseases ⚠
  • p.Lys638Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met1Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met1Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro187Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro21Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro387Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro541Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ser25Cys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ser90Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Thr251= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr42Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Trp626Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Val267Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Val819Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠

Benign 49

Benign/Likely benign 4

  • p.Arg539Met Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu377= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys349Arg Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Val595= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Likely benign 319

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1334+6_1334+9del Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.288+13T>C Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.506-5T>C Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala35= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg529= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp266= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp608= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile256Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu371= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu544= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser34= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser685= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr755= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Tyr559= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Tyr701= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Val111= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Val195= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Val734= Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+12T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+15G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+19A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1148-12T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1148-228dup Single submitter
  • c.1148-9T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1277+13T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1277+20_1277+24del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1277+8C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1277+9A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-11_1278-8del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-11A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-15T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-18G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-18G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-20A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1278-27T>C Single submitter
  • c.1278-7G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1334+20G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1335-7T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1335-8_1335-5del Single submitter
  • c.1458+12A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1458+13C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1458+14T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-15A>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-15A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-15A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-16del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-4T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1459-9T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.163+15G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.163+16del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.163+7A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.163+9T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-11T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-14C>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-15T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-19A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-222C>T Single submitter
  • c.164-288A>G Single submitter
  • c.164-303CT[2] Single submitter
  • c.164-5C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+10G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+14G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+15C>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+18T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+203A>G Single submitter
  • c.1714+2054C>G Single submitter
  • c.1714+20G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1714+262G>T Single submitter
  • c.1714+4732C>T Single submitter
  • c.1714+4772A>G Single submitter
  • c.1714+7G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-13C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-4A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-5T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-8C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1715-9T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1869+158C>T Single submitter
  • c.1869+18C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1870-13T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1870-93G>A Single submitter
  • c.1870-9A>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1870-9A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2079+13A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2079+14T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2079+8G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2080-40A>T Single submitter
  • c.2133+11G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2134-12T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2134-16G>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2134-20T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2134-26_2134-8del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2213+16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2213+18G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2213+7A>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2213+82T>C Single submitter
  • c.2213+8G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2214-11T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2214-14A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2214-17C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+11A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+13del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+13G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+7G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2340+9G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2341-14C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2341-15T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2341-17C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2341-287T>C Single submitter
  • c.2341-300_2341-299insTT Single submitter
  • c.2505+12C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+13C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+7T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+8dup Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2506-10A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2506-11T>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2506-16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2506-20C>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.288+13T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.288+192C>T Single submitter
  • c.288+20C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.288+9C>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-109G>C Single submitter
  • c.289-11C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-13C>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-14C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-15_289-14insATTTCTAATTTTCTAA Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-42G>T Single submitter
  • c.289-6T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-8_289-7insAACATTTATTTC Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-9G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.446+16T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.446+18G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.446+8T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-11T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-15_447-13del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-15C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-16T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-20C>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-20C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.447-9C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.505+16T>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.505+17A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.505+19A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.505+20T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.505+7_505+8del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.506-11C>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.506-13T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.506-7T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.506-9G>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.*74T>C Single submitter
  • p.Ala128= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala316= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala386= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala40= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala498= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala562= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala592= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala718= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala720= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala746= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala781= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala838= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala843= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg124= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg194= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg297= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg31= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg511= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg514= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg714= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg784= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg787= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg803= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg860= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Arg879= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn262= Single submitter
  • p.Asn346= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn409= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn467= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn554= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn73= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn855= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asn92= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp150= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp152= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp453= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp820= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp822= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Asp829= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Cys672= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Cys81= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln221= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gln234= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu142= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu230= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu241= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu284= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu306= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu367= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu430= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu616= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu823= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Glu882= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly108= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly185= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly197= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly205= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly397= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly464= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly491= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly497= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly743= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Gly889= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.His446= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.His503= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.His557= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.His811= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile164= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile403= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile579= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile629= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile635= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ile724= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu10= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu113= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu174= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu193= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu203= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu231= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu283= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu310= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu362= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu391= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu392= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu444= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu455= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu480= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu496= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu51= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu52= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu530= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu549= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu567= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu594= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu603= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu647= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu67= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu796= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu846= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu856= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Leu877= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys311= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys317= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys4= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys5= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys581= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys582= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys596= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys679= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys859= Single submitter
  • p.Lys887= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Phe312= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Phe39= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Phe515= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro187= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro21= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro246= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro275= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro460= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro524= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro541= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro611= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro670= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Pro797= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser13= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser18= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser19= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser210= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser25= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser313= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser359Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser476= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser625= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser652= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser705= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser722= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ser832= Single submitter
  • p.Thr182= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr243= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr287= Single submitter
  • p.Thr304= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr322= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr329= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr351= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr443= Single submitter
  • p.Thr45= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Thr47= Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Uncertain significance 380

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1277+6T>C Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2214-5A>G Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Ala128Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala128Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala137Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala386Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala575Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala742Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala742Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg297Gly Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg436Cys Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg501Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg501His Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg748His Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg878Lys Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg879Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn300Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn333Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn500Asp Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn525Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn623Ile Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn683Ser Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn6Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asp730Gly Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln234Lys Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln347Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln583Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln604Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln659His Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln864Pro Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln885Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu367Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu520Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu684Lys Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu706Gly Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly105Ala Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly522Arg Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His649Arg Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His891Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile260Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile384Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile521Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile692Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile723Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile82Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile857Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu179Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu478Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu544Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu637Gln Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu753Phe Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu824Ile Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys426Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys471Glu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met153Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met606Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met75Val Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Phe726Ser Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro133Leu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro33Ser Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro385Leu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro502Leu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro541Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro660Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser232Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser34Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser359Gly Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ser555Thr Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ser77Ala Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Thr182Ile Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Thr598Asn Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Thr89Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr881Phe Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Val123Leu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Val146Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val350Glu Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Val560Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val745Ile Multiple submitters microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • c.1147+16T>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1147+35T>G Single submitter
  • c.1147+4T>A Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.1277+3A>C Single submitter
  • c.1334+4C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.163+5A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.164-3T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2079+6_2079+7delinsAG Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2080-5T>C Single submitter Inborn genetic diseases
  • c.2133+3A>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2134-4C>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+2dup Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+3A>G Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.2505+6A>G Single submitter
  • c.288+47T>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.288+5G>C Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.289-10_289-9insA Single submitter
  • c.447-3C>T Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • c.-1C>T Single submitter
  • c.-2C>T Single submitter
  • p.Ala117Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala141Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala147Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala218Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala23Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala23Val Single submitter Inborn genetic diseases ⚠
  • p.Ala28= Single submitter
  • p.Ala296Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala30Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala30Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala364Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala404Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala408Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala408Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala433Val Single submitter Inborn genetic diseases ⚠
  • p.Ala465Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala504Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala504Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala507Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala508Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala508Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala526Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala556Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala680Thr Single submitter ⚠
  • p.Ala720Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala731Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala742Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala751Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala781Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala799Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ala843Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg194Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg216Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg249Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg31Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg31Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg436His Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg445Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg472Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg529Trp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg577Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg577Trp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg655Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg714Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg748Cys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg774Cys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg802Lys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg879Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg9Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Arg9Leu Single submitter Inborn genetic diseases ⚠
  • p.Asn262Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn319Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn467Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn50Ser Single submitter ⚠
  • p.Asn525His Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn554Asp Single submitter ⚠
  • p.Asn607Lys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn65Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn817Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn855Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asn855Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp239His Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp258Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp345Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp456His Single submitter Inborn genetic diseases ⚠
  • p.Asp531Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp57Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp620Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp747Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp776Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp798Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp829Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Asp883Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Cys27Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys574Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Cys81Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln132Arg Single submitter ⚠
  • p.Gln215Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln234Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln244Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln437His Single submitter Inborn genetic diseases ⚠
  • p.Gln551His Single submitter ⚠
  • p.Gln64His Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln762Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gln864Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu143Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu15Asp Single submitter ⚠
  • p.Glu294Ala Single submitter ⚠
  • p.Glu336Lys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu470Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu53Lys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu684Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu696Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu818Gly Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu818Ter Single submitter
  • p.Glu835Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu842Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu842Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu875Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu875Lys Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Glu882Asp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly112Ser Single submitter ⚠
  • p.Gly162Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly176Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly280Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly280Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly288Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly357Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly357Val Single submitter Inborn genetic diseases ⚠
  • p.Gly464Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly593Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly663Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly663Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Gly93Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His446Tyr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His503Pro Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His503Tyr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His557Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His557Pro Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His69Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His69Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.His891Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile155Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile245Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile314Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile314Met Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile337Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile337Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile355Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile418Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile438Met Single submitter ⚠
  • p.Ile438Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile449Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile484Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile532Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile579Met Single submitter Inborn genetic diseases ⚠
  • p.Ile619Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile629Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile68Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile805Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile80Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile80Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile825Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Ile857del Single submitter
  • p.Leu139Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu193Trp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu20Ser Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu283Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu371Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu378Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu505Trp Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu509Phe Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu530Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu537Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu549Pro Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu550Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu637Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu666Phe Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu67Phe Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu845Phe Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu856Phe Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Leu856Val Single submitter ⚠
  • p.Lys110Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys189Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys349Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys374Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys426Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys5Arg Single submitter ⚠
  • p.Lys5Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys5del Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Lys5Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys5Met Single submitter ⚠
  • p.Lys61Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys693Asn Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys693Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys715Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys764Glu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Lys76Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met144Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met153Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met1Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
  • p.Met201Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met217Ile Single submitter Inborn genetic diseases ⚠
  • p.Met217Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met481Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met606Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met614Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met614Val Single submitter Inborn genetic diseases ⚠
  • p.Met656Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met757Ile Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Met783Arg Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Phe312Val Single submitter ⚠
  • p.Phe348Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Phe653Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe726Val Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Phe806Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Phe862Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro206Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro255Gln Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro255Leu Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro255Thr Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠
  • p.Pro33Ala Single submitter microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ⚠