Preferred Label : Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal
recessive;
Symbol : NDHMSR;
CISMeF acronym : NDHMSR;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit
1 gene (GRIN1, 138249.0007);
Prefixed ID : #617820;
Origin ID : 617820;
UMLS CUI : C4693325;
Genes related to phenotype
HPO term(s)
Semantic type(s)