Term Name: | autosomal dominant intellectual developmental disorder 46 |
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Synonyms: | autosomal dominant mental retardation 46 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. |
Ontology: | Human Disease [DOID:0080237] ( DOID:0080237 ) |