autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures

Term ID

DOID:0070038

Synonyms

• autosomal dominant intellectual developmental disorder 8
• autosomal dominant mental retardation 8
• autosomal dominant non-syndromic intellectual disability 8
• MRD8
• NDHMSD

Definition

An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (2)

References

• MIM:614254
• NCI:C206518
• UMLS_CUI:C3280282

Ontology

Human Disease   ( DOID:0070038 )