Human genes for autosomal dominant intellectual developmental disorder 40
Autosomal dominant intellectual developmental disorder 40 [DOID:0070070]
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.
Synonyms: autosomal dominant intellectual developmental disorder 40, DOID:0070070, autosomal dominant mental retardation 40, autosomal dominant non-syndromic intellectual disability 40, MRD40 ...