TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1A
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
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: CACNA1A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Drowsiness (HP:0002329)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Drowsiness (HP:0002329)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Dissociated sensory loss (HP:0010835)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Spontaneous pain sensation (HP:0010833)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Incoordination (HP:0002311)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Athetosis (HP:0002305)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Bradyopsia (HP:0030511)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
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: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Diplopia (HP:0000651)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Diplopia (HP:0000651)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Diplopia (HP:0000651)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Diplopia (HP:0000651)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
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: CACNA1A
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Fever (HP:0001945)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
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: CACNA1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Irritability (HP:0000737)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Anxiety (HP:0000739)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Apathy (HP:0000741)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Agitation (HP:0000713)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Psychosis (HP:0000709)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Facial tics (HP:0011468)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Photopsia (HP:0030786)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Choking episodes (HP:0030842)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Pallor (HP:0000980)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Tinnitus (HP:0000360)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Tinnitus (HP:0000360)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Tinnitus (HP:0000360)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1A
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Focal pedal automatism seizure (HP:0032901)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Focal manual automatism seizure (HP:0032900)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
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: CACNA1A
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: CACNA1A
Phenotype: Torticollis (HP:0000473)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Torticollis (HP:0000473)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
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: CACNA1A
Phenotype: Scotoma (HP:0000575)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Esotropia (HP:0000565)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1B
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)
Gene: CACNA1B
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: CACNA1B
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)
Gene: CACNA1B
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: CACNA1B
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: CACNA1B
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: CACNA1B
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: CACNA1B
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: CACNA1B
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: CACNA1B
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)
Gene: CACNA1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)
Gene: CACNA1B
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: CACNA1B
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: CACNA1B
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: CACNA1B
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)