TaoMedAI/RareMedData huggingface dataset:
Gene: KARS1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Death in childhood (HP:0003819)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Absent speech (HP:0001344)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
Gene: KARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Vomiting (HP:0002013)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Vomiting (HP:0002013)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Gliosis (HP:0002171)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
Gene: KARS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Akinesia (HP:0002304)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Ketosis (HP:0001946)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Anemia (HP:0001903)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Decreased CSF biopterin level (HP:0040209)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
Gene: KARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
Gene: KARS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KCNA1
Phenotype: Hand clenching (HP:0001188)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Myotonia (HP:0002486)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Myokymia (HP:0002411)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Myokymia (HP:0002411)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Motor delay (HP:0001270)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Gene: KCNA1
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Gene: KCNA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Gene: KCNA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Gene: KCNA1
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Slurred speech (HP:0001350)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Gene: KCNA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNA1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Tremor (HP:0001337)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Gene: KCNA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Nausea (HP:0002018)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Gene: KCNA1
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: KCNA1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)