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Autosomal Domit Intellectual Developmental Disorder 7

Disease ID: disease_node_16516

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DbxrefMIM:614104
SubclassofDOID_0060307
Data SourceDOID
SynonymsDYRK1A syndrome, MRD7, autosomal dominant mental retardation 7, autosomal dominant non-syndromic intellectual disability 7
Doid Labelautosomal domit intellectual developmental disorder 7
Doid DescriptionAn autosomal domit 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 domit mutation of the DYRK1A gene on chromosome 21q22.13.
Disease Node Iddisease_node_16516
Doid IdDOID_0070037
LabelAutosomal Domit Intellectual Developmental Disorder 7