Term Name: | autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities |
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Synonyms: | |
Definition: | An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. |
Ontology: | Human Disease [DOID:0061044] ( DOID:0061044 ) |