TaoMedAI/RareMedData huggingface dataset:
Gene: SLC6A18
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A18
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A18
Phenotype: Prolinuria (HP:0003137)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A18
Phenotype: Hydroxyprolinemia (HP:0003260)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: NIPAL4
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Generalized ichthyosis (HP:0007503)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Dry skin (HP:0000958)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Gene: NIPAL4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: NIPAL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NIPAL4
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: HCN1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
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: HCN1
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Seizure (HP:0001250)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
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: HCN1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
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: HCN1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
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: HCN1
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: HCN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
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: HCN1
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: HCN1
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: HCN1
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: HCN1
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
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: HCN1
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: HCN1
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: HCN1
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: HCN1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
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: HCN1
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: HCN1
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: HCN1
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: HCN1
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: HCN1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
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: HCN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
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: HCN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
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: HCN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
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: HCN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)