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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

OMIM:614104

Synonyms

autosomal dominant mental retardation 7 [EXACT]

autosomal dominant non-syndromic intellectual disability 7 [EXACT]

DYRK1A syndrome [EXACT]

MRD7 [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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