autosomal dominant intellectual developmental disorder 7

Term ID

DOID:0070037

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. (2)

References

• OMIM:614104

Ontology

Human Disease   ( DOID:0070037 )