TaoMedAI/RareMedData huggingface dataset:
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Paradoxical myotonia (HP:0011809)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Paradoxical myotonia (HP:0011809)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Asthma (HP:0002099)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Dyspnea (HP:0002094)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Gowers sign (HP:0003391)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Gowers sign (HP:0003391)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Paralysis (HP:0003470)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Apnea (HP:0002104)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Apnea (HP:0002104)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Adrenocortical adenoma (HP:0008256)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Pleural effusion (HP:0002202)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Neonatal inspiratory stridor (HP:0004875)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Chest pain (HP:0100749)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Chest pain (HP:0100749)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Esodeviation (HP:0020045)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Fasciculations (HP:0002380)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Scapular winging (HP:0003691)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Scapular winging (HP:0003691)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Frequent falls (HP:0002359)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Frequent falls (HP:0002359)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Tube feeding (HP:0033454)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Diplopia (HP:0000651)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Blurred vision (HP:0000622)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Dental crowding (HP:0000678)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Dental crowding (HP:0000678)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Tapered toe (HP:0011309)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Synophrys (HP:0000664)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Synophrys (HP:0000664)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Short stature (HP:0004322)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Slender long bone (HP:0003100)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Myotonia of the upper limb (HP:0012903)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Myotonia of the upper limb (HP:0012903)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Myopathy (HP:0003198)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Cold-sensitive myotonia (HP:0012904)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Cold-sensitive myotonia (HP:0012904)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Myotonia of the face (HP:0012900)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Myotonia of the face (HP:0012900)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Myotonia of the jaw (HP:0012901)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Myotonia of the lower limb (HP:0012902)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Thin ribs (HP:0000883)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Facial muscle hypertrophy (HP:0012892)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)