autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures

Term ID

DOID:0070739

Synonyms

• NDHMSR

Definition

An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (2)

References

• MIM:617820
• UMLS_CUI:C4693325

Ontology

Human Disease   ( DOID:0070739 )