TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ8
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Short hallux (HP:0010109)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Narrow chest (HP:0000774)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Broad ribs (HP:0000885)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ10
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Seizure (HP:0001250)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Seizure (HP:0001250)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Hypotonia (HP:0001252)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Ataxia (HP:0001251)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Ataxia (HP:0001251)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Ataxia (HP:0001251)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Inability to walk (HP:0002540)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Absent speech (HP:0001344)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Nephropathy (HP:0000112)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Polyuria (HP:0000103)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Intention tremor (HP:0002080)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Migraine (HP:0002076)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Elevated serum bicarbonate concentration (HP:0032067)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Action tremor (HP:0002345)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Vertigo (HP:0002321)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Athetosis (HP:0002305)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)