TaoMedAI/RareMedData huggingface dataset:
Gene: SLC12A2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Hypertonia (HP:0001276)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Motor delay (HP:0001270)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Spasticity (HP:0001257)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Increased CSF albumin concentration (HP:0500239)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Absent speech (HP:0001344)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Absent speech (HP:0001344)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Wide mouth (HP:0000154)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Broad chin (HP:0011822)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Gene: SLC12A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Xerostomia (HP:0000217)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Midgut malrotation (HP:0005211)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Gene: SLC12A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A2
Phenotype: Alacrima (HP:0000522)
Associated disease: KILQUIST SYNDROME (OMIM:619080)
Gene: SLC12A3
Phenotype: Tetany (HP:0001281)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Syncope (HP:0001279)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Seizure (HP:0001250)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Ataxia (HP:0001251)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Nocturia (HP:0000017)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Nocturia (HP:0000017)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Low-to-normal blood pressure (HP:0002632)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Varicose veins (HP:0002619)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypotension (HP:0002615)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Polyuria (HP:0000103)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Constipation (HP:0002019)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Constipation (HP:0002019)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Myalgia (HP:0003326)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Vomiting (HP:0002013)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Primary hyperaldosteronism (HP:0011736)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Paralysis (HP:0003470)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Paralysis (HP:0003470)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Paresthesia (HP:0003401)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Paresthesia (HP:0003401)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Insomnia (HP:0100785)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Vertigo (HP:0002321)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Vertigo (HP:0002321)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Headache (HP:0002315)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Graves disease (HP:0100647)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Prominent U wave (HP:0025072)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Palpitations (HP:0001962)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Palpitations (HP:0001962)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypokalemic alkalosis (HP:0001949)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Polydipsia (HP:0001959)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Polydipsia (HP:0001959)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Blurred vision (HP:0000622)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Blurred vision (HP:0000622)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Gout (HP:0001997)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Enuresis (HP:0000805)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Enuresis (HP:0000805)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Scleroderma (HP:0100324)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: ST segment depression (HP:0012250)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Arthralgia (HP:0002829)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Salt craving (HP:0030083)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Salt craving (HP:0030083)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Growth delay (HP:0001510)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Fatigue (HP:0012378)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Tinnitus (HP:0000360)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: GITELMAN SYNDROME (OMIM:263800)
Gene: SLC12A3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Mitochondrial encephalopathy (HP:0006789)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC12A3
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Gitelman syndrome (ORPHA:358)
Gene: SLC16A1
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Gene: SLC16A1
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Gene: SLC16A1
Phenotype: Ketonuria (HP:0002919)
Associated disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Gene: SLC16A2
Phenotype: Underfolded superior helices (HP:0008583)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Poor head control (HP:0002421)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Seizure (HP:0001250)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Ataxia (HP:0001251)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Ataxia (HP:0001251)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Spasticity (HP:0001257)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Inability to walk (HP:0002540)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)
Gene: SLC16A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Gene: SLC16A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHDS; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8 deficiency; Allan-Herndon-Dudley syndrome (ORPHA:59)