Sarah Leigh Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; NDHMSR; Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254; NDHMSD; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability; EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Tracy Lester reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures,614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures,617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal