| Metadata | |
|---|---|
| ID | DOID:0070037 |
| Name | autosomal dominant intellectual developmental disorder 7 |
| Definition | An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. https://www.ncbi.nlm.nih.gov/books/NBK333438/, https://www.ncbi.nlm.nih.gov/pubmed/23160955 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 7 [EXACT] autosomal dominant non-syndromic intellectual disability 7 [EXACT] DYRK1A syndrome [EXACT] MRD7 [EXACT] |
| Parent Relationships |