AAMDC

Summary

AAMDC (adipogenesis associated Mth938 domain containing, HGNC:30205) is a protein-coding gene on chromosome 11q14.1, encoding Mth938 domain-containing protein (Q9H7C9). May play a role in preadipocyte differentiation and adipogenesis.

Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm.

Source: NCBI Gene 28971 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 87 total — 4 pathogenic
• MANE Select transcript: NM_024684

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30205
Approved symbol	AAMDC
Name	adipogenesis associated Mth938 domain containing
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Aliases	PTD015, FLJ21035, CK067
Ensembl gene	ENSG00000087884
Ensembl biotype	protein_coding
OMIM	620474
Entrez	28971

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 44 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000304716, ENST00000393427, ENST00000525034, ENST00000525409, ENST00000526164, ENST00000526415, ENST00000527134, ENST00000529666, ENST00000531855, ENST00000532481, ENST00000533193, ENST00000905799, ENST00000905800, ENST00000905801, ENST00000905802, ENST00000905803, ENST00000905804, ENST00000905805, ENST00000905806, ENST00000905807, ENST00000905808, ENST00000905809, ENST00000905810, ENST00000905811, ENST00000905812, ENST00000905813, ENST00000905814, ENST00000905815, ENST00000931538, ENST00000931539, ENST00000931540, ENST00000931541, ENST00000931542, ENST00000931543, ENST00000931544, ENST00000931545, ENST00000931546, ENST00000931547, ENST00000931548, ENST00000931549, ENST00000931550, ENST00000931551, ENST00000943177, ENST00000943178, ENST00000943179, ENST00000943180, ENST00000943181

RefSeq mRNA: 15 — MANE Select: NM_024684 NM_001316957, NM_001316958, NM_001316960, NM_001316961, NM_001316962, NM_001363564, NM_001392031, NM_001392032, NM_001392033, NM_001392034, NM_001392035, NM_001392036, NM_001392037, NM_001392038, NM_024684

CCDS: CCDS81604, CCDS81605, CCDS8254, CCDS91546

Canonical transcript exons

ENST00000393427 — 4 exons

Exon	Start	End
ENSE00001351379	77869722	77869817
ENSE00002174004	77821144	77821241
ENSE00002178302	77872175	77872352
ENSE00003467341	77842479	77842628

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6098 / max 271.3708, expressed in 1777 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115995	15.1353	1764
115996	0.8146	503
115994	0.6599	389

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	99.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.80	gold quality
apex of heart	UBERON:0002098	98.70	gold quality
vastus lateralis	UBERON:0001379	98.56	gold quality
left adrenal gland cortex	UBERON:0035825	98.41	gold quality
left adrenal gland	UBERON:0001234	98.30	gold quality
right adrenal gland	UBERON:0001233	98.15	gold quality
adrenal cortex	UBERON:0001235	98.07	gold quality
right adrenal gland cortex	UBERON:0035827	97.94	gold quality
diaphragm	UBERON:0001103	97.90	gold quality
adrenal gland	UBERON:0002369	97.90	gold quality
quadriceps femoris	UBERON:0001377	97.89	gold quality
triceps brachii	UBERON:0001509	97.83	gold quality
adrenal tissue	UBERON:0018303	97.83	gold quality
right atrium auricular region	UBERON:0006631	97.54	gold quality
heart left ventricle	UBERON:0002084	97.50	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.40	gold quality
germinal epithelium of ovary	UBERON:0001304	97.38	gold quality
cardiac ventricle	UBERON:0002082	97.37	gold quality
muscle organ	UBERON:0001630	97.34	gold quality
muscle of leg	UBERON:0001383	97.26	gold quality
amniotic fluid	UBERON:0000173	97.23	gold quality
gastrocnemius	UBERON:0001388	97.20	gold quality
biceps brachii	UBERON:0001507	97.15	gold quality
cardiac atrium	UBERON:0002081	97.13	gold quality
heart	UBERON:0000948	96.96	gold quality
skeletal muscle tissue	UBERON:0001134	96.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.79	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.75	gold quality
lower esophagus	UBERON:0013473	96.75	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.32
E-HCAD-13	yes	7.58

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• AAMDC is post-transcriptionally regulated through APA and microRNAs (PMID:31116411)
• The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer. (PMID:33772001)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	aamdc	ENSDARG00000103957
mus_musculus	Aamdc	ENSMUSG00000035642
rattus_norvegicus	Aamdc	ENSRNOG00000012584

Protein

Protein identifiers

Mth938 domain-containing protein — Q9H7C9 (reviewed: Q9H7C9)

Alternative names: Adipogenesis associated Mth938 domain-containing protein

All UniProt accessions (8): Q9H7C9, E9PIQ4, E9PJP1, E9PLK9, E9PNP3, E9PR47, H0YF35, K4DI89

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in preadipocyte differentiation and adipogenesis.

Subcellular location. Cytoplasm.

Similarity. Belongs to the AAMDC family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H7C9-1	1	yes
Q9H7C9-2	2
Q9H7C9-3	3

RefSeq proteins (15): NP_001303886, NP_001303887, NP_001303889, NP_001303890, NP_001303891, NP_001350493, NP_001378960, NP_001378961, NP_001378962, NP_001378963, NP_001378964, NP_001378965, NP_001378966, NP_001378967, NP_078960* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007523	NDUFAF3/AAMDC	Family
IPR034096	AAMDC	Family
IPR036748	MTH938-like_sf	Homologous_superfamily

Pfam: PF04430

UniProt features (19 total): strand 8, helix 4, splice variant 4, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2AB1	X-RAY DIFFRACTION	2.59
2Q4Q	X-RAY DIFFRACTION	2.59

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7C9-F1	97.78	0.99

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): RNGTGGGC_UNKNOWN, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, NFKB_Q6, SRF_Q5_01, NFKB_C, CDP_01, SRF_C, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, IRF1_Q6, GATA1_01, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN

GO Biological Process (4): transcription by RNA polymerase II (GO:0006366), negative regulation of apoptotic process (GO:0043066), positive regulation of fat cell differentiation (GO:0045600), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
fat cell differentiation	1
positive regulation of cell differentiation	1
regulation of fat cell differentiation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AAMDC	INTS4	Q96HW7	578
AAMDC	FHL3	Q13643	511
AAMDC	MOCS1	Q9NZB8	459
AAMDC	RSF1	Q96T23	447
AAMDC	KLHL15	Q96M94	439
AAMDC	NAIF1	Q69YI7	429
AAMDC	CASTOR1	Q8WTX7	426
AAMDC	LCTL	Q6UWM7	423
AAMDC	SMIM12	Q96EX1	415
AAMDC	A0A087WUM3	A0A087WUM3	396
AAMDC	PRXL2C	Q7RTV5	394
AAMDC	TIMM21	Q9BVV7	383
AAMDC	BEND7	Q8N7W2	383
AAMDC	ZC3H8	Q8N5P1	377
AAMDC	MT1HL1	P0DM35	376

IntAct

34 interactions, top by confidence:

A	B	Type	Score
AAMDC	ACY3	psi-mi:“MI:0915”(physical association)	0.560
AAMDC	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
ACY3	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
GORASP2	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
AAMDC	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
AAMDC	APP	psi-mi:“MI:0915”(physical association)	0.560
AAMDC	DNM2	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
HTT	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
ATXN3	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
MANSC1	SMPD2	psi-mi:“MI:0914”(association)	0.530
ALCAM	AAMDC	psi-mi:“MI:0915”(physical association)	0.400
OCRL	LTF	psi-mi:“MI:0914”(association)	0.350
Arhgap30	ARHGAP6	psi-mi:“MI:0914”(association)	0.350
HEXIM1	SART1	psi-mi:“MI:0914”(association)	0.350
NDC80	SART1	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (43): AAMDC (Two-hybrid), ACY3 (Two-hybrid), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Two-hybrid), AAMDC (Two-hybrid), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS), AAMDC (Affinity Capture-MS)

ESM2 similar proteins: A1A4Q2, A6NEY8, A6QP05, O80526, P11172, P12081, P13439, P31754, P37111, P38918, P47897, Q02053, Q16798, Q28EX9, Q2KI84, Q2KJD7, Q32LQ4, Q3MHH4, Q502H1, Q53JY8, Q5FWT7, Q5R4A0, Q5R4C4, Q5R4R2, Q5R514, Q5R8R4, Q5RGJ5, Q5U300, Q5ZJJ8, Q61035, Q641F1, Q66H61, Q6DI37, Q6DIJ1, Q6IQS6, Q6NRL0, Q7ZVX6, Q8BGR9, Q8BML9, Q8C878

Diamond homologs: Q32PA8, Q502H1, Q8R0P4, Q9H7C9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

87 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	68
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	Pathogenic
563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	Pathogenic
58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	Pathogenic
997825	Single allele	Pathogenic

SpliceAI

2182 predictions. Top by Δscore:

Variant	Effect	Δscore
11:77821238:GTGG:G	donor_gain	1.0000
11:77841126:GGCCA:G	donor_gain	1.0000
11:77842477:A:AG	acceptor_gain	1.0000
11:77842478:G:GG	acceptor_gain	1.0000
11:77872169:TCCCA:T	acceptor_loss	1.0000
11:77872170:CCCA:C	acceptor_loss	1.0000
11:77872171:CCA:C	acceptor_loss	1.0000
11:77872172:CAGGT:C	acceptor_loss	1.0000
11:77872173:A:C	acceptor_loss	1.0000
11:77872174:G:T	acceptor_loss	1.0000
11:77883827:CTTAC:C	donor_loss	1.0000
11:77883828:TTAC:T	donor_loss	1.0000
11:77883829:TACC:T	donor_loss	1.0000
11:77891329:A:C	donor_gain	1.0000
11:77891675:CCTGA:C	donor_loss	1.0000
11:77891676:CTGA:C	donor_loss	1.0000
11:77891677:TGAC:T	donor_loss	1.0000
11:77891678:GAC:G	donor_loss	1.0000
11:77891679:ACC:A	donor_loss	1.0000
11:77901419:A:AC	donor_gain	1.0000
11:77901419:AC:A	donor_gain	1.0000
11:77901420:C:CC	donor_gain	1.0000
11:77901420:CC:C	donor_gain	1.0000
11:77901420:CCCT:C	donor_gain	1.0000
11:77901547:ATAAT:A	acceptor_gain	1.0000
11:77901548:TAAT:T	acceptor_gain	1.0000
11:77901549:AAT:A	acceptor_gain	1.0000
11:77901550:AT:A	acceptor_gain	1.0000
11:77901552:C:CA	acceptor_loss	1.0000
11:77901552:C:CC	acceptor_gain	1.0000

AlphaMissense

778 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:77842602:T:A	W36R	0.997
11:77842602:T:C	W36R	0.997
11:77872301:C:G	H119D	0.995
11:77842604:G:C	W36C	0.994
11:77842604:G:T	W36C	0.994
11:77842608:T:A	W38R	0.994
11:77842608:T:C	W38R	0.994
11:77869813:T:C	L75S	0.994
11:77842610:G:C	W38C	0.993
11:77842610:G:T	W38C	0.993
11:77869724:T:A	H45Q	0.992
11:77869724:T:G	H45Q	0.992
11:77869798:G:A	G70E	0.991
11:77842569:G:C	D25H	0.990
11:77842571:C:A	D25E	0.990
11:77842571:C:G	D25E	0.990
11:77869797:G:A	G70R	0.990
11:77869797:G:C	G70R	0.990
11:77869798:G:T	G70V	0.990
11:77872293:G:A	G116D	0.990
11:77872299:T:C	F118S	0.990
11:77872301:C:A	H119N	0.990
11:77842577:A:C	K27N	0.989
11:77842577:A:T	K27N	0.989
11:77869789:T:A	I67N	0.989
11:77869792:G:A	G68D	0.989
11:77872256:T:G	Y104D	0.989
11:77872303:T:A	H119Q	0.989
11:77872303:T:G	H119Q	0.989
11:77872310:T:C	C122R	0.989

dbSNP variants (sampled 300 via entrez): RS1000003919 (11:77820697 T>C), RS1000101202 (11:77837264 T>C), RS1000113619 (11:77846393 C>A,T), RS1000180370 (11:77849260 C>T), RS1000189282 (11:77878553 C>A), RS1000204855 (11:77885736 T>C), RS1000335991 (11:77888485 A>G), RS1000385625 (11:77853483 A>G,T), RS1000404596 (11:77834659 T>C), RS1000404813 (11:77888161 T>C), RS1000443971 (11:77855738 G>T), RS1000451563 (11:77833447 A>G), RS1000459816 (11:77839120 G>A), RS1000497412 (11:77868786 T>G), RS1000519485 (11:77833657 T>C)

Disease associations

OMIM: gene MIM:620474 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST007277_15	Tourette syndrome	5.000000e-06
GCST008365_12	Thyrotoxic hypokalemic periodic paralysis and Graves disease	3.000000e-07
GCST90002395_95	Mean platelet volume	1.000000e-14
GCST90002402_382	Platelet count	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

51 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
bisphenol A	affects expression, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
Cyclosporine	decreases expression	3
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
potassium chromate(VI)	decreases expression, affects cotreatment	2
Air Pollutants	decreases methylation, increases abundance, decreases expression	2
Arsenic	decreases expression, increases abundance, affects methylation	2
Nickel	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol S	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Caffeine	decreases phosphorylation	1

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
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