TaoMedAI/RareMedData huggingface dataset:
Gene: ATXN7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Blindness (HP:0000618)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Photophobia (HP:0000613)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Macular degeneration (HP:0000608)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Psychosis (HP:0000709)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Restless legs (HP:0012452)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Gene: ATXN7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Visual loss (HP:0000572)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Gene: ATXN7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATXN8OS
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Spasticity (HP:0001257)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Rigidity (HP:0002063)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Postural instability (HP:0002172)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Impotence (HP:0000802)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Depression (HP:0000716)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8OS
Phenotype: Aspiration (HP:0002835)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8OS
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN8OS
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: SCN1A
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Syndactyly (HP:0001159)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Language impairment (HP:0002463)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Visually-induced seizure (HP:0020216)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Facial paralysis (HP:0007209)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Hypertonia (HP:0001276)
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: SCN1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
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: SCN1A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Motor delay (HP:0001270)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Confusion (HP:0001289)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Seizure (HP:0001250)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Hypotonia (HP:0001252)
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: SCN1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Ataxia (HP:0001251)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Ataxia (HP:0001251)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)