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DYRK1A-related intellectual disability syndrome

Disease Summary
Associated Targets (3)
Tchem

1

Tbio

1

Tdark

1


GARD Rare
Mondo Description An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
Uniprot Description A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
Mondo Term and Equivalent IDs
MONDO:0013578:  DYRK1A-related intellectual disability syndrome
Orphanet:464306: 
UMLS:C3279839: