TaoMedAI/RareMedData huggingface dataset:
Gene: GRIN1
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Gene: GRIN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Gene: GRIN1
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Gene: GRIN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Gene: GRIN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN1
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GRIN2A
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Language impairment (HP:0002463)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Poor head control (HP:0002421)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Seizure (HP:0001250)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Seizure (HP:0001250)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Seizure (HP:0001250)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Focal hemifacial clonic seizure (HP:0007332)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: EEG with temporal focal spikes (HP:0012018)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Slurred speech (HP:0001350)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: EEG with frontal focal spike waves (HP:0012010)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Dystonia (HP:0001332)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Laryngospasm (HP:0025425)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Migraine (HP:0002076)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Steppage gait (HP:0003376)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Sleep apnea (HP:0010535)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Paresthesia (HP:0003401)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Impulsivity (HP:0100710)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Aphasia (HP:0002381)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Aphasia (HP:0002381)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Aphasia (HP:0002381)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Difficulty standing (HP:0003698)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Frequent falls (HP:0002359)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: GRIN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GRIN2A
Phenotype: Loss of speech (HP:0002371)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Memory impairment (HP:0002354)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)