TaoMedAI/RareMedData huggingface dataset:
Gene: SCN8A
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: SCN8A
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: SCN8A
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: SCN9A
Phenotype: Tapered finger (HP:0001182)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Seizure (HP:0001250)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN9A
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Photosensitive myoclonic seizure (HP:0001327)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Vasculitis (HP:0002633)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Wormian bones (HP:0002645)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Osteolysis (HP:0002797)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Flushing (HP:0031284)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Anal pain (HP:0500005)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Constipation (HP:0002019)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Constipation (HP:0002019)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN9A
Phenotype: Myalgia (HP:0003326)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Diarrhea (HP:0002014)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Rigidity (HP:0002063)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Hypothermia (HP:0002045)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Jaw pain (HP:0040264)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Paresthesia (HP:0003401)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Congenital onset (HP:0003577)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Impulsivity (HP:0100710)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Action tremor (HP:0002345)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Ocular pain (HP:0200026)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Mandibular pain (HP:0200025)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Erythema (HP:0010783)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Pedal edema (HP:0010741)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Incoordination (HP:0002311)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Drooling (HP:0002307)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Palpitations (HP:0001962)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Blurred vision (HP:0000622)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Leukemia (HP:0001909)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Anxiety (HP:0000739)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Short attention span (HP:0000736)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Facial tics (HP:0011468)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Hyposmia (HP:0004409)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Pallor (HP:0000980)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)