Term Name: | autosomal dominant intellectual developmental disorder 66 |
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Synonyms: | |
Definition: | An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. |
Ontology: | Human Disease [DOID:0061039] ( DOID:0061039 ) |