TaoMedAI/RareMedData huggingface dataset:
Gene: AP2S1
Phenotype: Multiple small medullary renal cysts (HP:0008659)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Headache (HP:0002315)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Depression (HP:0000716)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Fatigue (HP:0012378)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: AP2S1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Gene: CLCN1
Phenotype: Myotonia (HP:0002486)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Myotonia (HP:0002486)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Myotonia (HP:0002486)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: EMG: myotonic runs (HP:0003730)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: EMG: myotonic runs (HP:0003730)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Myotonia with warm-up phenomenon (HP:0003740)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Myotonia with warm-up phenomenon (HP:0003740)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Myotonia with warm-up phenomenon (HP:0003740)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BATTEN-TURNER CONGENITAL MYOPATHY (OMIM:255300)
Gene: CLCN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Muscle hypertrophy of the lower extremities (HP:0008968)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Myalgia (HP:0003326)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: BATTEN-TURNER CONGENITAL MYOPATHY (OMIM:255300)
Gene: CLCN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Myopathy (HP:0003198)
Associated disease: BATTEN-TURNER CONGENITAL MYOPATHY (OMIM:255300)
Gene: CLCN1
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Lid lag on downgaze (HP:0025605)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN1
Phenotype: Lid lag on downgaze (HP:0025605)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Gene: CLCN1
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Myotonia congenita; Thomsen and Becker disease (ORPHA:614)
Gene: CLCN1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Gene: CLCN2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Visual field defect (HP:0001123)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 (OMIM:607628)
Gene: CLCN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Nausea (HP:0002018)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Secretory adrenocortical adenoma (HP:0011746)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 (OMIM:607628)
Gene: CLCN2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 (OMIM:607628)
Gene: CLCN2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Middle age onset (HP:0003596)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Action tremor (HP:0002345)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Headache (HP:0002315)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Headache (HP:0002315)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Bilateral tonic-clonic seizure on awakening (HP:0007193)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 (OMIM:607628)
Gene: CLCN2
Phenotype: Retinoschisis (HP:0030502)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Gene: CLCN2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CLCN2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN2
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial hyperaldosteronism type 2; FH-II; FH2; Familial hyperaldosteronism type II (ORPHA:404)
Gene: CLCN2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Gene: CLCN3
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Long fingers (HP:0100807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Reduced amygdala volume (HP:0025444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Hypoplastic coccygeal vertebrae (HP:0008447)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)