TaoMedAI/RareMedData huggingface dataset:
Gene: SCN3A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Small face (HP:0000274)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Gene: SCN3A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Gene: SCN3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN3A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
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: Myotonia (HP:0002486)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
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: Myotonia (HP:0002486)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Myotonia (HP:0002486)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Spasticity of facial muscles (HP:0002491)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Expressive language delay (HP:0002474)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Expressive language delay (HP:0002474)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Periodic hyperkalemic paralysis (HP:0007215)
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: Periodic hyperkalemic paralysis (HP:0007215)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Episodic flaccid weakness (HP:0003752)
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: Episodic flaccid weakness (HP:0003752)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Myotonia with warm-up phenomenon (HP:0003740)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Generalized muscle hypertrophy (HP:0003720)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
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: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
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: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Hypertonia (HP:0001276)
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: Hypertonia (HP:0001276)
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: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Neonatal death (HP:0003811)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Flexion contracture (HP:0001371)
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: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Reduced tendon reflexes (HP:0001315)
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: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Hyperkalemia while symptomatic (HP:6000833)
Associated disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Gene: SCN4A
Phenotype: Bowel incontinence (HP:0002607)
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: Open mouth (HP:0000194)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Laryngospasm (HP:0025425)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Myalgia (HP:0003326)
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)