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AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD25 additional features include mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3.
Mondo Term and Equivalent IDs
MONDO:0014358:  AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
EFO:0009015: 
Orphanet:412069: 
UMLS:C4014419: