TaoMedAI/RareMedData huggingface dataset:
Gene: ATP1A2
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
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: ATP1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
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: ATP1A2
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: ATP1A2
Phenotype: Coma (HP:0001259)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Coma (HP:0001259)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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: ATP1A2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Neonatal death (HP:0003811)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
Phenotype: Seesaw nystagmus (HP:0012044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Alien limb phenomenon (HP:0032506)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Dystonia (HP:0001332)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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: ATP1A2
Phenotype: Tremor (HP:0001337)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Dysmetria (HP:0001310)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Nausea (HP:0002018)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Migraine (HP:0002076)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Migraine with aura (HP:0002077)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
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: ATP1A2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Apraxia (HP:0002186)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Postural instability (HP:0002172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
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: ATP1A2
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Aphasia (HP:0002381)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Aphasia (HP:0002381)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Developmental regression (HP:0002376)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Vertigo (HP:0002321)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Headache (HP:0002315)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Drowsiness (HP:0002329)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Dissociated sensory loss (HP:0010835)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Spontaneous pain sensation (HP:0010833)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Episodic quadriplegia (HP:0200072)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
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: ATP1A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Diplopia (HP:0000651)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Diplopia (HP:0000651)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
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: ATP1A2
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Fever (HP:0001945)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Blurred vision (HP:0000622)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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: ATP1A2
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: ATP1A2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
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: ATP1A2
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
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: ATP1A2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Facial tics (HP:0011468)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Gene: ATP1A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Gene: ATP1A2
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)