Term Name: | autosomal dominant intellectual developmental disorder 40 |
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Synonyms: | autosomal dominant mental retardation 40, autosomal dominant non-syndromic intellectual disability 40, MRD40 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. |
Ontology: | Human Disease [DOID:0070070] ( DOID:0070070 ) |