Term Name: autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures
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.
Ontology: Human Disease [DOID:0070038]   ( DOID:0070038 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder