TaoMedAI/RareMedData huggingface dataset:
Gene: GRIN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Apnea (HP:0002104)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Mutism (HP:0002300)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Short stature (HP:0004322)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Growth delay (HP:0001510)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Bradycardia (HP:0001662)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)