TaoMedAI/RareMedData huggingface dataset:
Gene: GRN
Phenotype: Depression (HP:0000716)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Restlessness (HP:0000711)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Agitation (HP:0000713)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Hyperorality (HP:0000710)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Dementia (HP:0000726)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Lewy bodies (HP:0100315)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Senile plaques (HP:0100256)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Perseverative thought (HP:0030223)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Visual impairment (HP:0000505)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRIK2
Phenotype: Hand clenching (HP:0001188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Clonic seizure (HP:0020221)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Myoclonus (HP:0001336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Postural tremor (HP:0002174)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Echolalia (HP:0010529)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Short attention span (HP:0000736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Happy demeanor (HP:0040082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Cyanosis (HP:0000961)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Congenital horizontal nystagmus (HP:0007859)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIK2
Phenotype: Torticollis (HP:0000473)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Gene: GRIK2
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Gene: GRIN1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Spasticity (HP:0001257)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)