TaoMedAI/RareMedData huggingface dataset:
Gene: GRIN2A
Phenotype: Motor deterioration (HP:0002333)
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 multifocal slow activity (HP:0010844)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Atonic seizure (HP:0010819)
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: Generalized tonic seizure (HP:0010818)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Mutism (HP:0002300)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Clumsiness (HP:0002312)
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: Drooling (HP:0002307)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Drooling (HP:0002307)
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 hemiclonic seizure (HP:0006813)
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: Speech articulation difficulties (HP:0009088)
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: Speech articulation difficulties (HP:0009088)
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: Speech articulation difficulties (HP:0009088)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Intellectual disability, borderline (HP:0006889)
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: Abnormal facial shape (HP:0001999)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Short stature (HP:0004322)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Short stature (HP:0004322)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Anxiety (HP:0000739)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Anxiety (HP:0000739)
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: Short attention span (HP:0000736)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Short attention span (HP:0000736)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Short attention span (HP:0000736)
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: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Depression (HP:0000716)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Depression (HP:0000716)
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: Aggressive behavior (HP:0000718)
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: Aggressive behavior (HP:0000718)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Emotional lability (HP:0000712)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Emotional lability (HP:0000712)
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: Autistic behavior (HP:0000729)
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: Autistic behavior (HP:0000729)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Short nose (HP:0003196)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Short nose (HP:0003196)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Non-convulsive status epilepticus without coma (HP:0032671)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Speech apraxia (HP:0011098)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Speech apraxia (HP:0011098)
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: Speech apraxia (HP:0011098)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
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 focal sharp waves (HP:0011196)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Gene: GRIN2A
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Interictal epileptiform activity (HP:0011182)
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: Generalized clonic seizure (HP:0011169)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Typical absence seizure (HP:0011147)
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: Myoclonic absence seizure (HP:0011150)
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 motor seizure (HP:0011153)
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 motor seizure (HP:0011153)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2A
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Pes cavus (HP:0001761)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Pes cavus (HP:0001761)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: EEG with centrotemporal focal spike waves (HP:0012557)
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 centrotemporal focal spike waves (HP:0012557)
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 centrotemporal focal spike waves (HP:0012557)
Associated disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Gene: GRIN2A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Gene: GRIN2A
Phenotype: Dysesthesia (HP:0012534)
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: Spoken word recognition deficit (HP:0030391)
Associated disease: LKS; Landau-Kleffner syndrome; Acquired epileptic aphasia (ORPHA:98818)
Gene: GRIN2B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Chorea (HP:0002072)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: GRIN2B
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Gene: GRIN2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Gene: GRIN2B
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)