TaoMedAI/RareMedData huggingface dataset:
Gene: KCNC2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
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: KCNC2
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
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: KCNC2
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: KCNC2
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: KCNC2
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: KCNC2
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: KCNC2
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: KCNC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
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: KCNC2
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
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: KCNC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Aphasia (HP:0002381)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Tonic status epilepticus (HP:0032670)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Trismus (HP:0000211)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Gene: KCNC2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: KCNC3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Motor delay (HP:0001270)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Seizure (HP:0001250)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Myoclonus (HP:0001336)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Postural instability (HP:0002172)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Clumsiness (HP:0002312)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Difficulty running (HP:0009046)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Short stature (HP:0004322)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Titubation (HP:0030187)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Gene: KCNC3
Phenotype: Torticollis (HP:0000473)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCNC3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SCA13; Spinocerebellar ataxia type 13 (ORPHA:98768)
Gene: KCND3
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Slurred speech (HP:0001350)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)