TaoMedAI/RareMedData huggingface dataset:
Gene: DOCK11
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Ileitis (HP:0032564)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Neutrophilic infiltration of the skin (HP:0031234)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Congenital onset (HP:0003577)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: BCGitis (HP:0020086)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-type VII collagen antibody (HP:4000031)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-integrin antibody positivity (HP:4000025)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Crohn's disease (HP:0100280)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Mastoiditis (HP:0000265)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Panniculitis (HP:0012490)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Pericarditis (HP:0001701)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anisocytosis (HP:0011273)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: SPIN4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Deep philtrum (HP:0002002)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Overgrowth (HP:0001548)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Large for gestational age (HP:0001520)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Pes planus (HP:0001763)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Protruding ear (HP:0000411)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: SPIN4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Gene: RPS4Y2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RPS4Y2
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RPS4Y2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RPS4Y2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: GATA5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Thoracic aorta calcification (HP:0004962)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Heart murmur (HP:0030148)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Gene: GATA5
Phenotype: Abnormal left ventricular outflow tract morphology (HP:0011103)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: GATA5
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA5
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: SLC32A1
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
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: SLC32A1
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: SLC32A1
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: SLC32A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Seizure (HP:0001250)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
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: SLC32A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
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: SLC32A1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
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: SLC32A1
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)