Stereotypic movement disorder

Summary

Stereotypic movement disorder (MONDO:0002265) is a disease with 11 cohort genes.

At a glance

• Cohort genes: 11
• ClinVar variants: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	stereotypic movement disorder
Mondo ID	MONDO:0002265
MeSH	D019956
DOID	DOID:2303
SNOMED CT	5507002
UMLS	C0038273
MedGen	21320
Is cancer (heuristic)	no

Also known as: stereotyped repetitive movements NOS (finding)

Data availability: 14 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder › stereotypic movement disorder

Related subtypes (9): fetal alcohol spectrum disorder, oppositional defiant disorder, fetal nicotine spectrum disorder, communication disorder, tic disorder, learning disability, developmental coordination disorder, conduct disorder, attention deficit-hyperactivity disorder

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

14 retrieved; paginated sample, class counts are floors:

6 pathogenic, 3 pathogenic/likely pathogenic, 2 conflicting classifications of pathogenicity, 2 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267937	46;XY;t(5;15)(q11.2;q24)		Pathogenic	criteria provided, single submitter
268039	46;XY;t(3;18)(q13.31;q22.1)dn		Pathogenic	criteria provided, single submitter
279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
158186	NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)	CDKL5	Pathogenic	criteria provided, multiple submitters, no conflicts
224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	CIZ1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
453289	NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)	FOXG1	Pathogenic	criteria provided, multiple submitters, no conflicts
225760	NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	HNRNPH2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
156053	NM_001110792.2(MECP2):c.413+1G>T	MECP2	Pathogenic	criteria provided, multiple submitters, no conflicts
374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Pathogenic	criteria provided, single submitter
1803984	NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)	JARID2	Likely pathogenic	criteria provided, single submitter
1285534	NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)	SNAP25	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
373940	NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)	SYNGAP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
267927	46;XY;t(4;14)(p14;q11.2)dn		Uncertain significance	criteria provided, single submitter
523239	GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)	SMCHD1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 28 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SNAP25	Orphanet:98914	Presynaptic congenital myasthenic syndromes
CDKL5	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
CDKL5	Orphanet:3095	Atypical Rett syndrome
CDKL5	Orphanet:505652	CDKL5-deficiency disorder
CDKL5	Orphanet:697160	Infantile epileptic spasms syndrome
SYNGAP1	Orphanet:1942	Epilepsy with myoclonic-atonic seizures
SYNGAP1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
SYNGAP1	Orphanet:544254	SYNGAP1-related developmental and epileptic encephalopathy
TCF4	Orphanet:171	Primary sclerosing cholangitis
TCF4	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
TCF4	Orphanet:2896	Pitt-Hopkins syndrome
TCF4	Orphanet:98974	Fuchs endothelial corneal dystrophy
ADNP	Orphanet:404448	Helsmoortel-Van der Aa syndrome
CIZ1	Orphanet:420492	Adult-onset cervical dystonia, DYT23 type
SMCHD1	Orphanet:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
SMCHD1	Orphanet:269	Facioscapulohumeral dystrophy
FOXG1	Orphanet:261144	FOXG1 syndrome due to 14q12 microdeletion
FOXG1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
FOXG1	Orphanet:598164	FOXG1 syndrome due to intragenic alteration
HNRNPH2	Orphanet:662198	Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
JARID2	Orphanet:528084	Non-specific syndromic intellectual disability
MECP2	Orphanet:1762	Proximal Xq28 duplication syndrome
MECP2	Orphanet:209370	MECP2-related severe neonatal encephalopathy
MECP2	Orphanet:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome
MECP2	Orphanet:3095	Atypical Rett syndrome
MECP2	Orphanet:536	Systemic lupus erythematosus
MECP2	Orphanet:777	X-linked non-syndromic intellectual disability
MECP2	Orphanet:778	Rett syndrome

Cohort genes → proteins

11 cohort genes, 11 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	11

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SNAP25	HGNC:11132	ENSG00000132639	P60880	Synaptosomal-associated protein 25	clinvar
CDKL5	HGNC:11411	ENSG00000008086	O76039	Cyclin-dependent kinase-like 5	clinvar
SYNGAP1	HGNC:11497	ENSG00000197283	Q96PV0	Ras/Rap GTPase-activating protein SynGAP	clinvar
TCF4	HGNC:11634	ENSG00000196628	P15884	Transcription factor 4	clinvar
ADNP	HGNC:15766	ENSG00000101126	Q9H2P0	Activity-dependent neuroprotector homeobox protein	clinvar
CIZ1	HGNC:16744	ENSG00000148337	Q9ULV3	Cip1-interacting zinc finger protein	clinvar
SMCHD1	HGNC:29090	ENSG00000101596	A6NHR9	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	clinvar
FOXG1	HGNC:3811	ENSG00000176165	P55316	Forkhead box protein G1	clinvar
HNRNPH2	HGNC:5042	ENSG00000126945	P55795	Heterogeneous nuclear ribonucleoprotein H2	clinvar
JARID2	HGNC:6196	ENSG00000008083	Q92833	Protein Jumonji	clinvar
MECP2	HGNC:6990	ENSG00000169057	P51608	Methyl-CpG-binding protein 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SNAP25	Synaptosomal-associated protein 25	t-SNARE involved in the molecular regulation of neurotransmitter release.
CDKL5	Cyclin-dependent kinase-like 5	Mediates phosphorylation of MECP2.
SYNGAP1	Ras/Rap GTPase-activating protein SynGAP	Major constituent of the PSD essential for postsynaptic signaling.
TCF4	Transcription factor 4	Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif.
ADNP	Activity-dependent neuroprotector homeobox protein	May be involved in transcriptional regulation.
CIZ1	Cip1-interacting zinc finger protein	May regulate the subcellular localization of CIP/WAF1.
SMCHD1	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture.
FOXG1	Forkhead box protein G1	Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
HNRNPH2	Heterogeneous nuclear ribonucleoprotein H2	This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm.
JARID2	Protein Jumonji	Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis.
MECP2	Methyl-CpG-binding protein 2	Chromosomal protein that binds to methylated DNA.

Protein-family classification

Druggable: 1 · Difficult: 7 · Unknown: 3 · Druggable fraction: 0.09

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	6	4.5×	0.003
Kinase	1	2.5×	0.641
Scaffold/PPI	1	1.6×	0.641
Other/Unknown	3	0.5×	0.987

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SNAP25	Other/Unknown	no		T_SNARE_dom, SNAP-25_dom, SNAP-25_N_SNARE_chord
CDKL5	Kinase	yes	2.7.11.22	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
SYNGAP1	Scaffold/PPI	no		C2_dom, PH_domain, RasGAP_dom
TCF4	Transcription factor	no	7.6.2.3	bHLH_dom, HLH_DNA-bd_sf, NeuroDiff_E-box_TFs
ADNP	Transcription factor	no		HD, Homeodomain-like_sf, Znf_C2H2_type
CIZ1	Transcription factor	no		Matrin/U1-C_Znf_C2H2, Matrin/U1-like-C_Znf_C2H2, Znf_C2H2_type
SMCHD1	Other/Unknown	no		SMC_hinge, SMC_hinge_sf, HATPase_C_sf
FOXG1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2
HNRNPH2	Transcription factor	no		RRM_dom, Nucleotide-bd_a/b_plait_sf, Znf_CHHC
JARID2	Transcription factor	no		ARID_dom, JmjC_dom, JmjN
MECP2	Other/Unknown	no		Methyl_CpG_DNA-bd, DNA-bd_dom_sf, Me_CpG-bd_MeCP2

Expression context

Cohort genes with no expression data: 0.

11 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	11
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	3
Brodmann (1909) area 23	2
endothelial cell	2
cerebellar cortex	1
cerebellum	1
pons	1
frontal pole	1
adenohypophysis	1
pituitary gland	1
right uterine tube	1
pericardium	1
skin of hip	1
ganglionic eminence	1
ventricular zone	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
right ovary	1
blood	1
calcaneal tendon	1
colonic epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SNAP25	220	broad	marker	pons, cerebellar cortex, cerebellum
CDKL5	257	ubiquitous	marker	frontal pole, Brodmann (1909) area 23, cortical plate
SYNGAP1	137	ubiquitous	marker	pituitary gland, right uterine tube, adenohypophysis
TCF4	292	ubiquitous	marker	endothelial cell, skin of hip, pericardium
ADNP	295	ubiquitous	marker	ganglionic eminence, cortical plate, ventricular zone
CIZ1	281	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, right ovary
SMCHD1	290	ubiquitous	marker	calcaneal tendon, colonic epithelium, blood
FOXG1	100	broad	marker	cortical plate, endothelial cell, Brodmann (1909) area 23
HNRNPH2	295	ubiquitous	marker	choroid plexus epithelium, islet of Langerhans, seminal vesicle
JARID2	293	ubiquitous	marker	secondary oocyte, oocyte, buccal mucosa cell
MECP2	277	ubiquitous	marker	paraflocculus, Brodmann (1909) area 10, sural nerve

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MECP2	5,688
JARID2	3,794
TCF4	3,342
ADNP	2,228
SYNGAP1	2,175
CIZ1	2,160
HNRNPH2	2,073
SMCHD1	1,888
CDKL5	1,357
SNAP25	163

Intra-cohort edges

A	B	Sources
ADNP	FOXG1	biogrid_interaction
CDKL5	MECP2	string_interaction

Structural data

PDB: 9 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
JARID2	Q92833	16
SNAP25	P60880	14
MECP2	P51608	9
TCF4	P15884	5
HNRNPH2	P55795	4
CDKL5	O76039	3
CIZ1	Q9ULV3	1
SMCHD1	A6NHR9	1
FOXG1	P55316	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SYNGAP1	Q96PV0	60.43
ADNP	Q9H2P0	57.07

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 61. Enrichment computed across 11 evidence-associated genes (8 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Regulation of MECP2 expression and activity	2	92.1×	0.012	FOXG1, MECP2
Loss of MECP2 binding ability to 5hmC-DNA	1	1427.5×	0.021	MECP2
Toxicity of botulinum toxin type C (botC)	1	475.8×	0.021	SNAP25
Toxicity of botulinum toxin type E (botE)	1	475.8×	0.021	SNAP25
MECP2 regulates transcription of genes involved in GABA signaling	1	475.8×	0.021	MECP2
Toxicity of botulinum toxin type A (botA)	1	356.9×	0.021	SNAP25
Loss of phosphorylation of MECP2 at T308	1	356.9×	0.021	MECP2
Loss of MECP2 binding ability to 5mC-DNA	1	356.9×	0.021	MECP2
MECP2 regulates transcription factors	1	285.5×	0.024	MECP2
Loss of MECP2 binding ability to the NCoR/SMRT complex	1	203.9×	0.028	MECP2
Neurotoxicity of clostridium toxins	1	178.4×	0.028	SNAP25
MECP2 regulates transcription of neuronal ligands	1	178.4×	0.028	MECP2
Uptake and actions of bacterial toxins	1	102.0×	0.042	SNAP25
Acetylcholine Neurotransmitter Release Cycle	1	84.0×	0.042	SNAP25
FOXO-mediated transcription of cell cycle genes	1	84.0×	0.042	FOXG1
Serotonin Neurotransmitter Release Cycle	1	79.3×	0.042	SNAP25
Norepinephrine Neurotransmitter Release Cycle	1	79.3×	0.042	SNAP25
GABA synthesis, release, reuptake and degradation	1	79.3×	0.042	SNAP25
MECP2 regulates neuronal receptors and channels	1	75.1×	0.042	MECP2
Dopamine Neurotransmitter Release Cycle	1	62.1×	0.046	SNAP25
Other interleukin signaling	1	59.5×	0.046	SNAP25
Glutamate Neurotransmitter Release Cycle	1	57.1×	0.046	SNAP25
TGFBR3 expression	1	57.1×	0.046	TCF4
Neurotransmitter release cycle	1	54.9×	0.046	SNAP25
Myogenesis	1	47.6×	0.050	TCF4
Signaling by TGFBR3	1	46.0×	0.050	TCF4
Bacterial Infection Pathways	1	42.0×	0.052	SNAP25
Nuclear events stimulated by ALK signaling in cancer	1	40.8×	0.052	MECP2
Transcriptional Regulation by MECP2	1	39.6×	0.052	MECP2
Sensory processing of sound	1	38.6×	0.052	SNAP25

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 11 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
random inactivation of X chromosome	3	255.3×	2e-05	CIZ1, SMCHD1, JARID2
negative regulation of neuron apoptotic process	3	30.2×	0.007	SYNGAP1, ADNP, MECP2
positive regulation of axon extension	2	92.8×	0.009	CDKL5, ADNP
catecholamine secretion	1	1532.0×	0.010	MECP2
trans-synaptic signaling by BDNF	1	1532.0×	0.010	MECP2
protein localization to pericentric heterochromatin	1	1532.0×	0.010	JARID2
dendrite development	2	71.3×	0.010	SYNGAP1, MECP2
visual learning	2	55.7×	0.010	SYNGAP1, MECP2
long-term synaptic potentiation	2	51.1×	0.010	SNAP25, MECP2
cardiolipin metabolic process	1	766.0×	0.013	MECP2
positive regulation of DNA-templated DNA replication initiation	1	766.0×	0.013	CIZ1
nervous system process involved in regulation of systemic arterial blood pressure	1	510.7×	0.013	MECP2
biogenic amine metabolic process	1	510.7×	0.013	MECP2
pyramidal neuron migration to cerebral cortex	1	510.7×	0.013	FOXG1
intracellular nitric oxide homeostasis	1	510.7×	0.013	ADNP
response to other organism	1	510.7×	0.013	MECP2
protein-DNA complex assembly	1	510.7×	0.013	TCF4
maintenance of postsynaptic specialization structure	1	510.7×	0.013	SYNGAP1
positive regulation of neuron differentiation	2	36.0×	0.013	TCF4, FOXG1
neuron apoptotic process	2	33.7×	0.013	SYNGAP1, ADNP
proprioception	1	383.0×	0.015	MECP2
presynaptic dense core vesicle exocytosis	1	383.0×	0.015	SNAP25
axon midline choice point recognition	1	306.4×	0.018	FOXG1
glucocorticoid metabolic process	1	255.3×	0.020	MECP2
regulation of synapse structure or activity	1	255.3×	0.020	SYNGAP1
inositol metabolic process	1	218.9×	0.021	MECP2
nose development	1	218.9×	0.021	SMCHD1
autosome genomic imprinting	1	218.9×	0.021	SMCHD1
neuron fate determination	1	191.5×	0.022	FOXG1
positive regulation of microtubule nucleation	1	191.5×	0.022	MECP2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 3 · Undrugged: 8

Druggability breadth: 6 of 11 evidence-associated genes (55%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CDKL5	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CDKL5	14	4
TCF4	1	2
SMCHD1	1	2
SNAP25	0	0
SYNGAP1	0	0
ADNP	0	0
CIZ1	0	0
FOXG1	0	0
HNRNPH2	0	0
JARID2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	CDKL5
CAPMATINIB	4	CDKL5
DEFACTINIB	3	CDKL5
ALVOCIDIB	3	CDKL5
LESTAURTINIB	3	CDKL5
RUBOXISTAURIN	3	CDKL5
FORETINIB	2	CDKL5
RG-547	2	CDKL5
AT-7519	2	CDKL5
TOZASERTIB	2	CDKL5
SALINOMYCIN	2	TCF4
MOLIBRESIB	2	SMCHD1
BMS-387032	1	CDKL5
PF-03758309	1	CDKL5
5-(6-BENZOTHIAZOLYLMETHYLENE)-3,5-DIHYDRO-2-(((1S)-1-(METHOXYMETHYL)-3-METHYLBUTYL)AMINO)-4H-IMIDAZOL-4-ONE, (5Z)-	1	CDKL5
AST-487	1	CDKL5

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CDKL5	74	Binding:74
TCF4	31	Binding:31
SMCHD1	7	Binding:7
HNRNPH2	2	Binding:2
MECP2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CDKL5	2.7.11.22	cyclin-dependent kinase
TCF4	7.6.2.3	ABC-type glutathione-S-conjugate transporter

Pharmacogenomics

Cohort genes with a PharmGKB record: 11; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

16 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	CDKL5
CAPMATINIB	4	CDKL5
DEFACTINIB	3	CDKL5
ALVOCIDIB	3	CDKL5
LESTAURTINIB	3	CDKL5
RUBOXISTAURIN	3	CDKL5
FORETINIB	2	CDKL5
RG-547	2	CDKL5
AT-7519	2	CDKL5
TOZASERTIB	2	CDKL5
SALINOMYCIN	2	TCF4
MOLIBRESIB	2	SMCHD1
BMS-387032	1	CDKL5
PF-03758309	1	CDKL5
5-(6-BENZOTHIAZOLYLMETHYLENE)-3,5-DIHYDRO-2-(((1S)-1-(METHOXYMETHYL)-3-METHYLBUTYL)AMINO)-4H-IMIDAZOL-4-ONE, (5Z)-	1	CDKL5
AST-487	1	CDKL5

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CDKL5
B	Phased (≥1) drug, not yet approved	2	TCF4, SMCHD1
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	8	SNAP25, SYNGAP1, ADNP, CIZ1, FOXG1, HNRNPH2, JARID2, MECP2

Undrugged target profiles

8 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SNAP25	0	—
SYNGAP1	0	—
ADNP	0	—
CIZ1	0	—
FOXG1	0	—
HNRNPH2	2	—
JARID2	0	—
MECP2	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.