MCPH1

Summary

MCPH1 (microcephalin 1, HGNC:6954) is a protein-coding gene on chromosome 8p23.1, encoding Microcephalin (Q8NEM0). Implicated in chromosome condensation and DNA damage induced cellular responses.

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 79648 — RefSeq curated summary.

At a glance

• Gene–disease (curated): microcephaly with intellectual disability (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 42
• Clinical variants (ClinVar): 1,168 total — 53 pathogenic, 58 likely-pathogenic
• Phenotypes (HPO): 24
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_024596

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6954
Approved symbol	MCPH1
Name	microcephalin 1
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12847, BRIT1
Ensembl gene	ENSG00000147316
Ensembl biotype	protein_coding
OMIM	607117
Entrez	79648

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 17 protein_coding, 11 nonsense_mediated_decay, 8 protein_coding_CDS_not_defined, 5 retained_intron

ENST00000344683, ENST00000519221, ENST00000519480, ENST00000521129, ENST00000521175, ENST00000522020, ENST00000522905, ENST00000684782, ENST00000685179, ENST00000686750, ENST00000686882, ENST00000687324, ENST00000687413, ENST00000687577, ENST00000687720, ENST00000687874, ENST00000688099, ENST00000688101, ENST00000688388, ENST00000688452, ENST00000688658, ENST00000688912, ENST00000689148, ENST00000689348, ENST00000689633, ENST00000689736, ENST00000690159, ENST00000690518, ENST00000690682, ENST00000690708, ENST00000690826, ENST00000691435, ENST00000691655, ENST00000691738, ENST00000692534, ENST00000692836, ENST00000692938, ENST00000693231, ENST00000693528, ENST00000933168, ENST00000949609

RefSeq mRNA: 10 — MANE Select: NM_024596 NM_001172574, NM_001172575, NM_001322042, NM_001322043, NM_001322045, NM_001363979, NM_001363980, NM_001410916, NM_001410917, NM_024596

CCDS: CCDS43689, CCDS55190, CCDS55191, CCDS94245, CCDS94246, CCDS94247, CCDS94248, CCDS94249, CCDS94250

Canonical transcript exons

ENST00000344683 — 14 exons

Exon	Start	End
ENSE00001087862	6442067	6442156
ENSE00001087864	6438953	6439096
ENSE00001087866	6436048	6436162
ENSE00001375901	6431499	6431586
ENSE00001493231	6414765	6414883
ENSE00001493234	6409279	6409370
ENSE00001595751	6621454	6621691
ENSE00001729351	6455143	6455252
ENSE00002098568	6406627	6406689
ENSE00002309052	6444393	6445547
ENSE00003568032	6477594	6477631
ENSE00003625574	6499852	6499929
ENSE00003657310	6480714	6480876
ENSE00003699992	6642994	6648508

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 92.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.7147 / max 318.1367, expressed in 1800 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87238	23.6027	1800
87240	0.0703	5
87241	0.0304	5
87242	0.0114	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.05	gold quality
ganglionic eminence	UBERON:0004023	89.13	gold quality
calcaneal tendon	UBERON:0003701	89.11	gold quality
cortical plate	UBERON:0005343	87.59	gold quality
ventricular zone	UBERON:0003053	86.78	gold quality
bone marrow cell	CL:0002092	86.64	gold quality
gastrocnemius	UBERON:0001388	86.36	gold quality
muscle of leg	UBERON:0001383	86.06	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.85	gold quality
popliteal artery	UBERON:0002250	85.17	gold quality
tibial artery	UBERON:0007610	85.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.62	gold quality
aorta	UBERON:0000947	83.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.01	gold quality
stromal cell of endometrium	CL:0002255	82.75	gold quality
sural nerve	UBERON:0015488	82.66	gold quality
colonic epithelium	UBERON:0000397	82.55	gold quality
islet of Langerhans	UBERON:0000006	82.44	gold quality
smooth muscle tissue	UBERON:0001135	82.21	gold quality
ascending aorta	UBERON:0001496	81.87	gold quality
thoracic aorta	UBERON:0001515	81.87	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.82	gold quality
descending thoracic aorta	UBERON:0002345	81.81	gold quality
leukocyte	CL:0000738	81.78	gold quality
monocyte	CL:0000576	81.73	gold quality
adrenal tissue	UBERON:0018303	81.52	gold quality
lower esophagus mucosa	UBERON:0035834	81.29	gold quality
lower esophagus	UBERON:0013473	81.26	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.26	gold quality
endocervix	UBERON:0000458	81.25	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
TERT	Repression

Upstream regulators (CollecTRI, top): E2F1, HR

miRNA regulators (miRDB)

179 targeting MCPH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-30A-3P	99.87	69.74	2928

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Identification of microcephalin, a protein implicated in determining the size of the human brain, which is mapped to the MCPH1 locus and is mutated in primary microcephaly. (PMID:12046007)
• microcephalin and ASPM determine the size of the human brain (PMID:12571366)
• Mcph1 is involved in DNA damage-induced cellular responses and may have a role in regulation of Brca1 and/or Chk1 (PMID:15220350)
• findings show that one genetic variant of Microcephalin in modern humans, which arose approximately 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift; this indicates that it has spread under strong positive selection (PMID:16151009)
• Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients. (PMID:16217032)
• The study found no evidence that the selected alleles of MCPH1 and ASPM were associated with increases or decreases in brain volume. (PMID:16687438)
• We conclude that MCPH1 has a function downstream of Chk1 in the ATR-signalling pathway. (PMID:16783362)
• BRIT1 is a crucial DNA damage regulator in the ATM/ATR pathways and suggest that it functions as a tumor suppressor gene (PMID:16872911)
• review: MCPH1 functions in the ATR-dependent DNA damage response pathway. Additionally, MCPH1 has a function in the regulation of mitotic entry that is ATR-independent (PMID:17102619)
• Studies using 2393 subjects do not support a detectable association between the recent adaptive evolution of either ASPM or Microcephalin and changes in IQ. (PMID:17220170)
• no relationship was found between polymorphisms of brain regulator gene Microcephalin Microcephalin and any general mental ability, head circumference and social intelligence (PMID:17251122)
• phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during evolution of modern humans. (PMID:17566767)
• MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage (PMID:17925396)
• A non-synonymous SNP (rs1057090, V761A in BRCA1 C-terminus (BRCT) domain) of MCPH1 other than the two known tag SNPs is significantly associated with cranial volume in Chinese males. (PMID:18204051)
• MDC1 and BRIT1 may function as tumor-suppressor genes, at least in part by orchestrating proper centrosome duplication and mitotic spindle assembly. (PMID:18635967)
• Data show that MCPH1 cooperates with E2F1 to regulate genes involved in DNA repair, checkpoint and apoptosis, and might participate in the maintenance of genomic integrity. (PMID:18660752)
• Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair (PMID:18718915)
• There is little or no association between the MCPH1 c.940G allele and either microcephaly or mental retardation. However, there are significant racial differences in the c.940G > C SNP allele frequencies between African-American and Caucasian populations. (PMID:19267414)
• The findings therefore identify BRIT1 as a key molecule that links chromatin remodelling with response to DNA damage in the control of DNA repair, and its dysfunction contributes to human disease. (PMID:19525936)
• Results show that a lack of microcephalin or pericentrin results in a loss of Chk1 from centrosomes with subsequently deregulated activation of centrosomal cyclin B-Cdk1. (PMID:19546241)
• Role of MCPH1 in the DNA damage response is in part associated with the ability to localize BRCA2 to sites of DNA double-stand breaks. (PMID:19549900)
• Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. (PMID:19793310)
• discuss our current findings and future perspectives about how BRIT1/MCPH1, a human disease gene, specifies the function of chromatin remodelers and links chromatin remodeling to genome maintenance.[review] (PMID:19829069)
• Compared with other BRCT domain structures, the most striking differences are an elongated, ordered beta1-alpha1 loop and an adjacent hydrophobic pocket. (PMID:19925808)
• Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation (PMID:20101680)
• Microcephalin is an independent predictor of breast cancer-specific survival in invasive ductal breast cancer patients and may prove to be a useful biomarker for the identification of aggressive breast cancers (PMID:20632086)
• The first study of MCPH1 in a large cohort of non-consanguineous patients with microcephaly, is reported. (PMID:20949544)
• Results indicate that the DNA damage response in human cells with truncating MCPH1 mutations differs significantly from the damage responses in cells of certain model organisms and in cells depleted of MCPH1 by RNAi. (PMID:21150325)
• We conclude that the common variations we measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not affect the risk of Alzheimer disease (PMID:21297427)
• SET is an important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly (PMID:21515671)
• these findings show that genetic variants in the microcephalin 1 locus are suggestively associated with the risk of epirubicin-induced adverse drug reactions. (PMID:21799462)
• MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II (PMID:21911480)
• MCPH1 expression is downregulated in blood cells of CML patients compared to control subjects; this downregulation is independent of BCR/ABL. CML cells exhibit defective G2/M arrest; data confirm role of MCPH1 as regulator of G2/M checkpoint. (PMID:21934293)
• The MCPH1 promoter region was sequenced in human, chimpanzee and rhesus macaque; sequence comparison of vertebrate species suggested that the identified E2F1 binding motif is primate specific. (PMID:22136275)
• the biochemical, structural, and cellular determinants of the novel interaction between MCPH1 and Cdc27 and suggest that this interaction may occur within the larger context of MCPH1-APC/C. (PMID:22139841)
• the crystal structures of MCPH1 natural variant (A761) C-terminal tandem BRCT domains alone as well as in complex with gammaH2AX tail (PMID:22154951)
• It was shown that MCPH1 directly binds to the promoter of human telomerase reverse transcriptase and represses telomerase activity. An intact N terminal BRCT domain was essential for the proper inhibiting function of MCPH1. (PMID:22240313)
• MCPH1 recruitment to sites of DNA damage is linked to both states of histone H2A.X. (PMID:22908299)
• MCPH1 encodes different isoforms that are differentially regulated at the transcript level and have different functions at the protein level (PMID:22952573)
• Reduced protein expression of MCPH1 is associated with breast carcinoma. (PMID:23117476)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mcph1	ENSDARG00000058372
mus_musculus	Mcph1	ENSMUSG00000039842
rattus_norvegicus	Mcph1	ENSRNOG00000028586
drosophila_melanogaster	MCPH1	FBGN0260959

Protein

Protein identifiers

Microcephalin — Q8NEM0 (reviewed: Q8NEM0)

All UniProt accessions (22): Q8NEM0, A0A8I5KPV6, A0A8I5KQQ3, A0A8I5KQZ4, A0A8I5KR64, A0A8I5KR97, A0A8I5KRI7, A0A8I5KRS3, A0A8I5KSF2, A0A8I5KTK9, A0A8I5KV10, A0A8I5KW78, A0A8I5KWR1, A0A8I5KX36, A0A8I5KXJ5, A0A8I5KXP9, A0A8I5KYD2, A0A8I5KYX6, A0A8I5KZ89, A0A8I5QJK3, A0A8I5QKX9, A0A8I5QKY7

UniProt curated annotations — full annotation on UniProt →

Function. Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.

Subunit / interactions. Interacts with CDC27 and maybe other components of the APC/C complex. Interacts with histone variant H2AX under DNA damage conditions.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Expressed in fetal brain, liver and kidney.

Disease relevance. Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200] A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex. BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and phosphotyrosine in the C-terminal tail of histone H2AX.

Miscellaneous. MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NEM0-1	1	yes
Q8NEM0-2	2
Q8NEM0-3	3

RefSeq proteins (10): NP_001166045, NP_001166046, NP_001308971, NP_001308972, NP_001308974, NP_001350908, NP_001350909, NP_001397845, NP_001397846, NP_078872* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001357	BRCT_dom	Domain
IPR022047	Microcephalin-like	Family
IPR029504	Microcephalin_mammal	Family
IPR036420	BRCT_dom_sf	Homologous_superfamily

Pfam: PF12258, PF12738

UniProt features (62 total): helix 14, sequence variant 13, strand 12, modified residue 6, turn 4, domain 3, splice variant 3, region of interest 3, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3PA6	X-RAY DIFFRACTION	1.5
3U3Z	X-RAY DIFFRACTION	1.5
2WT8	X-RAY DIFFRACTION	1.6
3KTF	X-RAY DIFFRACTION	1.6
3SHT	X-RAY DIFFRACTION	1.95
3SHV	X-RAY DIFFRACTION	2.1
7C5D	X-RAY DIFFRACTION	2.15
3T1N	X-RAY DIFFRACTION	2.6
3SZM	X-RAY DIFFRACTION	2.63

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEM0-F1	59.80	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 279, 287, 296, 333, 335, 548

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2299718	Condensation of Prophase Chromosomes
R-HSA-1640170	Cell Cycle
R-HSA-68875	Mitotic Prophase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 162 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, GOBP_SPINDLE_LOCALIZATION, GOBP_CHROMOSOME_CONDENSATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_BONE_DEVELOPMENT, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, GOBP_REGULATION_OF_CELL_CYCLE

GO Biological Process (11): negative regulation of transcription by RNA polymerase II (GO:0000122), establishment of mitotic spindle orientation (GO:0000132), mitotic cell cycle (GO:0000278), cerebral cortex development (GO:0021987), regulation of centrosome cycle (GO:0046605), regulation of inflammatory response (GO:0050727), bone development (GO:0060348), regulation of chromosome condensation (GO:0060623), protein localization to centrosome (GO:0071539), neuronal stem cell population maintenance (GO:0097150), regulation of gene expression (GO:0010468)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Mitotic Prophase	1
M Phase	1
Cell Cycle, Mitotic	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
mitotic cell cycle	1
establishment of mitotic spindle localization	1
establishment of spindle orientation	1
cell cycle	1
mitotic nuclear division	1
pallium development	1
anatomical structure development	1
centrosome cycle	1
regulation of cell cycle process	1
regulation of microtubule-based process	1
regulation of cellular component organization	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
skeletal system development	1
animal organ development	1
chromosome condensation	1
regulation of chromosome organization	1
protein localization to microtubule organizing center	1
stem cell population maintenance	1
gene expression	1
regulation of macromolecule biosynthetic process	1
protein binding	1
binding	1
nuclear lumen	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1328 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCPH1	ASPM	Q8IZT6	988
MCPH1	CDK5RAP2	Q96SN8	942
MCPH1	STIL	Q15468	933
MCPH1	CPAP	Q9HC77	916
MCPH1	CEP152	O94986	854
MCPH1	WDR62	O43379	820
MCPH1	MDC1	Q14676	772
MCPH1	CHEK1	O14757	697
MCPH1	TOPBP1	Q92547	696
MCPH1	BRCA2	P51587	689
MCPH1	PDHA2	P29803	684
MCPH1	NCAPG2	Q86XI2	677
MCPH1	CEP135	Q66GS9	670
MCPH1	VDAC1	P21796	669
MCPH1	NCAPD3	P42695	657

IntAct

32 interactions, top by confidence:

A	B	Type	Score
TERF2IP	TERF2	psi-mi:“MI:0914”(association)	0.970
MCPH1	E2F1	psi-mi:“MI:0915”(physical association)	0.630
E2F1	MCPH1	psi-mi:“MI:0915”(physical association)	0.630
MCPH1	E2F1	psi-mi:“MI:0407”(direct interaction)	0.630
MCPH1	TERF2	psi-mi:“MI:0915”(physical association)	0.580
MCPH1	TERF2	psi-mi:“MI:0407”(direct interaction)	0.580
TERF2	MCPH1	psi-mi:“MI:0914”(association)	0.580
CRACR2A	MCPH1	psi-mi:“MI:0915”(physical association)	0.560
MCPH1	MCPH1	psi-mi:“MI:0915”(physical association)	0.510
MCPH1	E2F2	psi-mi:“MI:0915”(physical association)	0.400
MCPH1	TADA2A	psi-mi:“MI:0915”(physical association)	0.370
ABCC2	MCPH1	psi-mi:“MI:0915”(physical association)	0.370
PHF11	MCPH1	psi-mi:“MI:0915”(physical association)	0.370
CFTR	MCPH1	psi-mi:“MI:0915”(physical association)	0.370
MCPH1	KDM1A	psi-mi:“MI:0915”(physical association)	0.370
NCBP3	RSL1D1	psi-mi:“MI:0914”(association)	0.350
CRACR2A	PLS1	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SLC28A2	NACA	psi-mi:“MI:0914”(association)	0.350
MCPH1	RNF8	psi-mi:“MI:0403”(colocalization)	0.270
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
FASTKD2	MED19	psi-mi:“MI:2364”(proximity)	0.270
RBM15	ILVBL	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (139): MCPH1 (Affinity Capture-MS), MCPH1 (Affinity Capture-Western), MCPH1 (Affinity Capture-Western), BIRC6 (Affinity Capture-Western), USP8 (Affinity Capture-Western), H2AFX (Affinity Capture-Western), MCPH1 (Co-localization), MCPH1 (Synthetic Lethality), MCPH1 (Affinity Capture-Western), MCPH1 (Affinity Capture-MS), POLR2G (Two-hybrid), UXT (Two-hybrid), AKIP1 (Two-hybrid), COL1A1 (Two-hybrid), ENO1 (Two-hybrid)

ESM2 similar proteins: A0P8Z5, B0KYV5, B1WC58, B2RYR0, F1LR10, F6SNN2, O75128, O75410, P51826, P61590, P61591, P61592, P61593, P61594, Q3USH1, Q501R9, Q5IFK1, Q5PQK4, Q5R8C5, Q5SU73, Q5SWA1, Q5U5Q9, Q6NZF1, Q6P1D7, Q6P7W0, Q6PJW8, Q6Y685, Q6ZSG2, Q6ZVT6, Q7TT79, Q80XI1, Q80XJ2, Q80YR6, Q86T90, Q8BFU3, Q8C9B9, Q8IY92, Q8IYW5, Q8ND24, Q8NEM0

Diamond homologs: P61590, P61591, P61592, P61593, P61594, Q5IFK1, Q7TT79, Q8NEM0, Q9QZH2, Q8RXD4, Q99728

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
E2F1	“up-regulates quantity by expression”	MCPH1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

1168 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	53
Likely pathogenic	58
Uncertain significance	337
Likely benign	527
Benign	77

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071403	NM_024596.5(MCPH1):c.1040C>A (p.Ser347Ter)	Pathogenic
1453725	NM_024596.5(MCPH1):c.26dup (p.Val10fs)	Pathogenic
1456805	NC_000008.10:g.(?6264189)(6312793_?)del	Pathogenic
1705328	NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)	Pathogenic
1708306	NM_024596.5(MCPH1):c.168C>G (p.Tyr56Ter)	Pathogenic
1800940	NM_024596.5(MCPH1):c.322-2A>T	Pathogenic
2021482	NM_024596.5(MCPH1):c.146dup (p.His49fs)	Pathogenic
2426841	NC_000008.10:g.(?6266780)(6266911_?)del	Pathogenic
2426842	NC_000008.10:g.(?6264189)(6266911_?)del	Pathogenic
2691298	NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)	Pathogenic
2701607	NM_024596.5(MCPH1):c.382C>T (p.Gln128Ter)	Pathogenic
2735118	NM_024596.5(MCPH1):c.909_921del (p.Arg304fs)	Pathogenic
2767053	NM_024596.5(MCPH1):c.364G>T (p.Glu122Ter)	Pathogenic
2769413	NM_024596.5(MCPH1):c.873del (p.Phe291_Leu292insTer)	Pathogenic
2785730	NM_024596.5(MCPH1):c.630_631del (p.Cys210_Glu211delinsTer)	Pathogenic
2793324	NM_024596.5(MCPH1):c.119C>G (p.Ser40Ter)	Pathogenic
2794044	NM_024596.5(MCPH1):c.1156C>T (p.Gln386Ter)	Pathogenic
2821502	NM_024596.5(MCPH1):c.673G>T (p.Glu225Ter)	Pathogenic
2826934	NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)	Pathogenic
2849903	NM_024596.5(MCPH1):c.94del (p.Val33fs)	Pathogenic
2872441	NM_024596.5(MCPH1):c.479T>A (p.Leu160Ter)	Pathogenic
2879698	NM_024596.5(MCPH1):c.634_638del (p.Ala212fs)	Pathogenic
2903095	NM_024596.5(MCPH1):c.348del (p.Phe116fs)	Pathogenic
2994549	NM_024596.5(MCPH1):c.857C>G (p.Ser286Ter)	Pathogenic
3008906	NM_024596.5(MCPH1):c.128_129del (p.Thr42_Phe43insTer)	Pathogenic
30639	NM_024596.5(MCPH1):c.566dup (p.Asn189fs)	Pathogenic
30640	NM_024596.5(MCPH1):c.147C>G (p.His49Gln)	Pathogenic
30642	NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter)	Pathogenic
3245594	NC_000008.10:g.(?6289000)(6289127_?)del	Pathogenic
3245595	NC_000008.10:g.(?6264189)(6335172_?)del	Pathogenic

SpliceAI

5472 predictions. Top by Δscore:

Variant	Effect	Δscore
8:6406686:AAAG:A	donor_loss	1.0000
8:6406687:AAG:A	donor_loss	1.0000
8:6406688:AG:A	donor_loss	1.0000
8:6406689:GG:G	donor_loss	1.0000
8:6406691:T:G	donor_loss	1.0000
8:6409270:T:TA	acceptor_gain	1.0000
8:6409277:A:AG	acceptor_gain	1.0000
8:6409278:G:GG	acceptor_gain	1.0000
8:6409278:G:GT	acceptor_loss	1.0000
8:6409278:GAT:G	acceptor_gain	1.0000
8:6409278:GATGT:G	acceptor_gain	1.0000
8:6409366:CAAAG:C	donor_loss	1.0000
8:6409367:AAAG:A	donor_loss	1.0000
8:6409368:AAGG:A	donor_loss	1.0000
8:6409369:AGG:A	donor_loss	1.0000
8:6409370:GGTA:G	donor_loss	1.0000
8:6409371:G:C	donor_loss	1.0000
8:6409372:T:G	donor_loss	1.0000
8:6414759:CTACA:C	acceptor_loss	1.0000
8:6414760:TACAG:T	acceptor_loss	1.0000
8:6414762:CAGGT:C	acceptor_loss	1.0000
8:6414763:A:T	acceptor_loss	1.0000
8:6414877:TGGAA:T	donor_gain	1.0000
8:6414878:GGAAA:G	donor_gain	1.0000
8:6414881:AAAGT:A	donor_loss	1.0000
8:6414882:AAG:A	donor_loss	1.0000
8:6414883:AGT:A	donor_loss	1.0000
8:6414884:G:GG	donor_gain	1.0000
8:6414884:GTAAG:G	donor_loss	1.0000
8:6414885:T:A	donor_loss	1.0000

AlphaMissense

5493 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:6414799:T:A	V50D	0.997
8:6414873:T:A	W75R	0.997
8:6414873:T:C	W75R	0.997
8:6621682:T:A	W815R	0.996
8:6621682:T:C	W815R	0.996
8:6409351:T:C	L32P	0.994
8:6414875:G:C	W75C	0.994
8:6414875:G:T	W75C	0.994
8:6409294:T:A	V13D	0.993
8:6409351:T:A	L32H	0.993
8:6642996:T:C	S819P	0.993
8:6409338:T:C	F28L	0.992
8:6409340:T:A	F28L	0.992
8:6409340:T:G	F28L	0.992
8:6414862:T:A	V71D	0.992
8:6621684:G:C	W815C	0.992
8:6621684:G:T	W815C	0.992
8:6409288:C:A	A11D	0.991
8:6414804:T:C	F52L	0.991
8:6414805:T:C	F52S	0.991
8:6414806:C:A	F52L	0.991
8:6414806:C:G	F52L	0.991
8:6409339:T:C	F28S	0.990
8:6431500:T:C	C79R	0.990
8:6409365:G:C	A37P	0.989
8:6409362:G:T	G36W	0.988
8:6477610:T:A	V651D	0.988
8:6480874:T:A	W712R	0.988
8:6480874:T:C	W712R	0.988
8:6480757:T:C	F673L	0.987

dbSNP variants (sampled 300 via entrez): RS1000010942 (8:6647126 G>A), RS1000014087 (8:6565492 A>G,T), RS1000023385 (8:6439543 C>T), RS1000024202 (8:6438274 A>G), RS1000024371 (8:6575325 C>G,T), RS1000024505 (8:6645853 C>T), RS1000032502 (8:6408271 C>G,T), RS1000034818 (8:6439781 C>A,G,T), RS1000037050 (8:6621776 C>A,G,T), RS1000038202 (8:6569893 C>A,T), RS1000039233 (8:6538027 G>C), RS1000058381 (8:6619050 G>A,T), RS1000063533 (8:6490968 C>A,G), RS1000065761 (8:6466641 C>T), RS1000070871 (8:6412916 C>A,G)

Disease associations

OMIM: gene MIM:607117 | disease phenotypes: MIM:251200

GenCC curated gene-disease

Disease	Classification	Inheritance
microcephaly 1, primary, autosomal recessive	Definitive	Autosomal recessive
microcephaly with intellectual disability	Strong	Autosomal recessive
autosomal recessive primary microcephaly	Supportive	Autosomal recessive
hereditary breast carcinoma	Limited	Unknown
familial ovarian cancer	No Known Disease Relationship	Unknown

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
microcephaly with intellectual disability	Definitive	AR
familial ovarian cancer	No Known Disease Relationship	AD
hereditary breast carcinoma	Limited	AD

Mondo (8): microcephaly 1, primary, autosomal recessive (MONDO:0009617), congenital nervous system disorder (MONDO:0002320), autosomal recessive primary microcephaly (MONDO:0016660), intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), familial ovarian cancer (MONDO:0016248), hereditary breast carcinoma (MONDO:0016419), microcephaly with intellectual disability (MONDO:0100200)

Orphanet (3): Autosomal recessive primary microcephaly (Orphanet:2512), Premature chromosome condensation with microcephaly and intellectual disability (Orphanet:52183), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000122	Unilateral renal agenesis
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000582	Upslanted palpebral fissure
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001302	Pachygyria
HP:0001347	Hyperreflexia
HP:0001510	Growth delay
HP:0002119	Ventriculomegaly
HP:0002282	Gray matter heterotopia
HP:0002472	Small cerebral cortex
HP:0003103	Abnormal cortical bone morphology
HP:0003451	Increased rate of premature chromosome condensation
HP:0003577	Congenital onset
HP:0004322	Short stature
HP:0007333	Hypoplasia of the frontal lobes
HP:0010864	Severe intellectual disability
HP:0011451	Primary microcephaly

GWAS associations

42 associations (top):

Study	Trait	p-value
GCST001175_1	Epirubicin-induced leukopenia	2.000000e-09
GCST001272_7	Cytomegalovirus antibody response	8.000000e-06
GCST003264_1036	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003264_132	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003264_1593	Post bronchodilator FEV1/FVC ratio	5.000000e-09
GCST003264_161	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003264_436	Post bronchodilator FEV1/FVC ratio	6.000000e-07
GCST003264_475	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003264_796	Post bronchodilator FEV1/FVC ratio	4.000000e-07
GCST004273_1	Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 24 weeks)	3.000000e-06
GCST004860_74	Alcoholic chronic pancreatitis	3.000000e-06
GCST006412_73	Intraocular pressure	2.000000e-13
GCST006627_99	Diastolic blood pressure	6.000000e-14
GCST006979_224	Heel bone mineral density	8.000000e-14
GCST007436_5	Carotid intima media thickness	9.000000e-09
GCST008059_201	Estimated glomerular filtration rate	3.000000e-09
GCST008362_175	Birth weight	7.000000e-12
GCST009391_120	Metabolite levels	6.000000e-06
GCST009391_1439	Metabolite levels	1.000000e-06
GCST009391_1460	Metabolite levels	1.000000e-06
GCST009391_1487	Metabolite levels	9.000000e-06
GCST009391_1580	Metabolite levels	5.000000e-06
GCST009391_1590	Metabolite levels	2.000000e-06
GCST009391_1812	Metabolite levels	2.000000e-07
GCST009391_1822	Metabolite levels	2.000000e-07
GCST009391_1842	Metabolite levels	5.000000e-07
GCST009391_1863	Metabolite levels	7.000000e-06
GCST009391_1884	Metabolite levels	4.000000e-06
GCST009391_2086	Metabolite levels	1.000000e-06
GCST009391_239	Metabolite levels	6.000000e-06

EFO canonical traits (25, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0004695	intraocular pressure measurement
EFO:0006336	diastolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0004344	birth weight
EFO:0010354	diacylglycerol 36:1 measurement
EFO:0010409	triacylglycerol 50:2 measurement
EFO:0010406	triacylglycerol 48:3 measurement
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0010349	cholesteryl ester 20:5 measurement
EFO:0010350	cholesteryl ester 22:6 measurement
EFO:0010404	triacylglycerol 48:1 measurement
EFO:0010405	triacylglycerol 48:2 measurement
EFO:0010413	triacylglycerol 52:1 measurement
EFO:0010410	triacylglycerol 50:3 measurement
EFO:0010373	phosphatidylcholine 32:1 measurement
EFO:0010493	glycodeoxycholate measurement
EFO:0010389	phosphatidylcholine 40:6 measurement
EFO:0010507	lactose measurement
EFO:0010399	triacylglycerol 44:1 measurement
EFO:0010401	triacylglycerol 46:1 measurement
EFO:0010402	triacylglycerol 46:2 measurement
EFO:0010403	triacylglycerol 48:0 measurement
EFO:0004327	electrocardiography
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C579935	Autosomal Recessive Primary Microcephaly (supp.)
C562840	Breast Cancer, Familial (supp.)
C565384	Microcephaly, Primary Autosomal Recessive, 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

9 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11774231	MCPH1		0.00	0
rs11989215	ANGPT2, MCPH1		0.00	0
rs17570753	MCPH1		0.00	0
rs2916733	MCPH1		0.00	0
rs2515409	ANGPT2, MCPH1		0.00	0
rs10102851	ANGPT2, MCPH1		0.00	0
rs2515462	ANGPT2, MCPH1		0.00	0
rs13269021	ANGPT2, MCPH1		0.00	0
rs1375668	ANGPT2, MCPH1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
(+)-JQ1 compound	decreases expression	3
Doxorubicin	increases expression, affects expression, affects response to substance, decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Cyclosporine	increases expression	2
Cadmium Chloride	increases expression	2
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
pradimicin-IRD	affects expression, affects response to substance	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
trichostatin A	decreases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	increases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases phosphorylation	1
Cannabinoids	affects methylation, increases abundance	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4DQ	WAe001-A-52	Embryonic stem cell	Male

Clinical trials (associated diseases)

221 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)
NCT00040222	Not specified	COMPLETED	Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
NCT02557776	Not specified	COMPLETED	Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
NCT03495544	Not specified	UNKNOWN	Study Estimating Association Between Germline Mutations and PD-L1 Expression in Breast Cancer
NCT03959267	Not specified	COMPLETED	Testing a Culturally Adapted Telephone Genetic Counseling Intervention
NCT04058418	Not specified	COMPLETED	Specialist Recommendation on FBC (Familial Breast Cancer) Chemoprevention Prescribing
NCT04125914	Not specified	ACTIVE_NOT_RECRUITING	Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families
NCT04169542	Not specified	RECRUITING	Impact of COVID-19 Pandemic on Out-of-Pocket Costs, Lost Wages, and Unemployment in Patients With Breast Cancer Undergoing Breast Surgery
NCT04197856	Not specified	ACTIVE_NOT_RECRUITING	Direct Information to At-risk Relatives
NCT07292246	Not specified	RECRUITING	A Prospective CohorT Study of HandX - Assisted ENdoscopic MAstectomy: Feasibility and Safety (ATHENA I Study)
NCT07307664	Not specified	RECRUITING	Increasing Germline Genetic Testing for Patients With Cancer
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