Term Name: | autosomal dominant intellectual developmental disorder 7 |
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Synonyms: | autosomal dominant mental retardation 7, autosomal dominant non-syndromic intellectual disability 7, DYRK1A syndrome, MRD7 |
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. |
Ontology: | Human Disease [DOID:0070037] ( DOID:0070037 ) |