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autosomal dominant intellectual developmental disorder 7
Summary
- Synonym
-
- DYRK1A syndrome
- MRD7
- autosomal dominant mental retardation 7
- autosomal dominant non-syndromic intellectual disability 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070037
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13627 | Dual specificity tyrosine-phosphorylation-regulated kinase 1A |
