TaoMedAI/RareMedData huggingface dataset:
Gene: SCN2A
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Gene: SCN2A
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Apnea (HP:0002104)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Apnea (HP:0002104)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Apnea (HP:0002104)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Postural instability (HP:0002172)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Gene: SCN2A
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Gene: SCN2A
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Impulsivity (HP:0100710)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
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: SCN2A
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: SCN2A
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: SCN2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
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: SCN2A
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Action tremor (HP:0002345)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Vertigo (HP:0002321)
Associated disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Gene: SCN2A
Phenotype: Vertigo (HP:0002321)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Headache (HP:0002315)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: SCN2A
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
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: SCN2A
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
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: SCN2A
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Incoordination (HP:0002311)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Drooling (HP:0002307)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Gene: SCN2A
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Anxiety (HP:0000739)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Short attention span (HP:0000736)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Autism (HP:0000717)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: SCN2A
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
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: SCN2A
Phenotype: Facial tics (HP:0011468)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Gene: SCN2A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN2A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Pallor (HP:0000980)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Cyanosis (HP:0000961)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN2A
Phenotype: Cyanosis (HP:0000961)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Gene: SCN2A
Phenotype: Pes valgus (HP:0008081)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN2A
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SCN2A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SCN2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)