TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1A
Phenotype: Myotonia (HP:0002486)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Language impairment (HP:0002463)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Transient unilateral blurring of vision (HP:0001125)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Dyscalculia (HP:0002442)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Facial paralysis (HP:0007209)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
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: CACNA1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
Phenotype: Confusion (HP:0001289)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Confusion (HP:0001289)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Seizure (HP:0001250)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
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: CACNA1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1A
Phenotype: Coma (HP:0001259)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Coma (HP:0001259)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
Phenotype: Falls (HP:0002527)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Personality disorder (HP:0012075)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Seesaw nystagmus (HP:0012044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Slurred speech (HP:0001350)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Alien limb phenomenon (HP:0032506)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Dystonia (HP:0001332)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Dystonia (HP:0001332)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
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: CACNA1A
Phenotype: Tremor (HP:0001337)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Tremor (HP:0001337)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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: CACNA1A
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Abnormal vestibulo-ocular reflex (HP:0007670)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Vomiting (HP:0002013)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Migraine without aura (HP:0002083)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Intention tremor (HP:0002080)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
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: CACNA1A
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Migraine (HP:0002076)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Migraine (HP:0002076)
Associated disease: Episodic ataxia type 2; Familial paroxysmal ataxia (ORPHA:97)
Gene: CACNA1A
Phenotype: Migraine (HP:0002076)
Associated disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Gene: CACNA1A
Phenotype: Migraine (HP:0002076)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Migraine with aura (HP:0002077)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Postural instability (HP:0002172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Postural instability (HP:0002172)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Gene: CACNA1A
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Paresthesia (HP:0003401)
Associated disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Gene: CACNA1A
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Insidious onset (HP:0003587)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
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: CACNA1A
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: CACNA1A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
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: CACNA1A
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
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: CACNA1A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Gene: CACNA1A
Phenotype: Aphasia (HP:0002381)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: CACNA1A
Phenotype: Aphasia (HP:0002381)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Visual hallucination (HP:0002367)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Gene: CACNA1A
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Gene: CACNA1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CACNA1A
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)