TaoMedAI/RareMedData huggingface dataset:
Gene: ATP1A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
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: ATP1A3
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Postural instability (HP:0002172)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Postural instability (HP:0002172)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Postural instability (HP:0002172)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
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: ATP1A3
Phenotype: Exodeviation (HP:0020049)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Resting tremor (HP:0002322)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
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: ATP1A3
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Episodic quadriplegia (HP:0200072)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Mutism (HP:0002300)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Mutism (HP:0002300)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Hemiplegia (HP:0002301)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Incoordination (HP:0002311)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Drooling (HP:0002307)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Drooling (HP:0002307)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Episodic generalized hypotonia (HP:0006852)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
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: ATP1A3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Optic atrophy (HP:0000648)
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: Blindness (HP:0000618)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
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: ATP1A3
Phenotype: Arm dystonia (HP:0031960)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Anxiety (HP:0000739)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Anxiety (HP:0000739)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Depression (HP:0000716)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Emotional lability (HP:0000712)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Emotional lability (HP:0000712)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Autistic behavior (HP:0000729)
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: 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: ATP1A3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
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: ATP1A3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: Central apnea (HP:0002871)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Hypomimic face (HP:0000338)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Hypomimic face (HP:0000338)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Gene: ATP1A3
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: ATP1A3
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Gene: ATP1A3
Phenotype: Abnormality of eye movement (HP:0000496)
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: 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: ATP1A3
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: ATP1A3
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 12 (OMIM:128235)
Gene: ATP1A3
Phenotype: Torticollis (HP:0000473)
Associated disease: DYT12; Dystonia 12; Rapid-onset dystonia-parkinsonism (ORPHA:71517)
Gene: ATP1A3
Phenotype: Pes cavus (HP:0001761)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Pes cavus (HP:0001761)
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: Progressive visual loss (HP:0000529)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Visual impairment (HP:0000505)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
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: ATP1A3
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
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: ATP1A3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A3
Phenotype: Visual loss (HP:0000572)
Associated disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Gene: ATP1A3
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)