Term Name: | autosomal dominant intellectual developmental disorder 5 |
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Synonyms: | autosomal dominant mental retardation 5, autosomal dominant non-syndromic intellectual disability 5, MRD5 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. |
Ontology: | Human Disease [DOID:0070035] ( DOID:0070035 ) |