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DOID:0070037 - autosomal dominant intellectual developmental disorder 7
Disease Ontology 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.
Synonyms: autosomal dominant mental retardation 7, autosomal dominant non-syndromic intellectual disability 7, DYRK1A syndrome, MRD7
Xenbase Genes
:
dyrk1a,
dyrk1a.2
| MONDO:0013578 - DYRK1A-related intellectual disability syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee