TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ5
Phenotype: Short stature (HP:0004322)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Bidirectional ventricular ectopy (HP:0005147)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: High palate (HP:0000218)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Growth delay (HP:0001510)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Tinnitus (HP:0000360)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Low-set ears (HP:0000369)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Micrognathia (HP:0000347)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Triangular face (HP:0000325)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Short foot (HP:0001773)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Early young adult onset (HP:0025708)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ6
Phenotype: Narrow naris (HP:0009933)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Narrow naris (HP:0009933)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Hypertonia (HP:0001276)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Hypertonia (HP:0001276)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Seizure (HP:0001250)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Seizure (HP:0001250)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Scoliosis (HP:0002650)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Open mouth (HP:0000194)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Open mouth (HP:0000194)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Opisthotonus (HP:0002179)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Congenital onset (HP:0003577)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Dimple chin (HP:0010751)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Congenital generalized lipodystrophy (HP:0009059)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Abnormal forehead morphology (HP:0000290)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Microcephaly (HP:0000252)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: High palate (HP:0000218)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: High palate (HP:0000218)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Micrognathia (HP:0000347)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Short philtrum (HP:0000322)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Short philtrum (HP:0000322)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Lack of facial subcutaneous fat (HP:0005320)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Proptosis (HP:0000520)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Proptosis (HP:0000520)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ6
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Gene: KCNJ6
Phenotype: Shallow orbits (HP:0000586)
Associated disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Gene: KCNJ8
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNJ8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Coxa valga (HP:0002673)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Wide mouth (HP:0000154)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: KCNJ8
Phenotype: Cuboid-shaped vertebral bodies (HP:0004634)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)