Term Name: | autosomal dominant intellectual developmental disorder 11 |
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Synonyms: | autosomal dominant mental retardation 11, autosomal dominant non-syndromic intellectual disability 11, MRD11 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. |
Ontology: | Human Disease [DOID:0070041] ( DOID:0070041 ) |