TaoMedAI/RareMedData huggingface dataset:
Gene: ATP1A2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Photopsia (HP:0030786)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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: ATP1A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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: ATP1A2
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Refractory status epilepticus (HP:0032867)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Focal pedal automatism seizure (HP:0032901)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Focal manual automatism seizure (HP:0032900)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
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: ATP1A2
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: ATP1A2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
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: ATP1A2
Phenotype: Scotoma (HP:0000575)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A3
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Bulbar signs (HP:0002483)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Tetraplegia (HP:0002445)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
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: ATP1A3
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: ATP1A3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
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: ATP1A3
Phenotype: Motor delay (HP:0001270)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
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: ATP1A3
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: ATP1A3
Phenotype: Areflexia (HP:0001284)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Areflexia (HP:0001284)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Seizure (HP:0001250)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Seizure (HP:0001250)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Seizure (HP:0001250)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
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: ATP1A3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
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: ATP1A3
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
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: ATP1A3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Urinary urgency (HP:0000012)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
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: ATP1A3
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: High-pitched cry (HP:0025430)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; CAPOS syndrome (ORPHA:1171)
Gene: ATP1A3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYSTONIA 12 (OMIM:128235)