Term Name: | autosomal recessive intellectual developmental disorder 77 |
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Synonyms: | |
Definition: | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0081236] ( DOID:0081236 ) |