Term Name: | autosomal dominant intellectual developmental disorder 70 |
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Synonyms: | |
Definition: | An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. |
Ontology: | Human Disease [DOID:0061043] ( DOID:0061043 ) |