| Metadata | |
|---|---|
| ID | DOID:0070070 |
| Name | autosomal dominant intellectual developmental disorder 40 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25533962 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 40 [EXACT] autosomal dominant non-syndromic intellectual disability 40 [EXACT] MRD40 [EXACT] |
| Parent Relationships |