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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070055
EFO:0009015
OMIM:615829
Orphanet:412069
UMLS:C4014419
MONDO:0014358
High level summary of knowledge for a disease, including descriptions and datasource references.