TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF365
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Insomnia (HP:0100785)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: ZNF365
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: ZNF365
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Hallucinations (HP:0000738)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: ZNF365
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: ZNF365
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: ZNF365
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: CEP164
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Seizure (HP:0001250)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Polydactyly (HP:0010442)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Blindness (HP:0000618)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Obesity (HP:0001513)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP164
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Gene: CEP164
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP164
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CARD8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Ileitis (HP:0032564)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Abdominal pain (HP:0002027)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Vomiting (HP:0002013)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Duodenitis (HP:0033117)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Pancolitis (HP:0033256)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Esophagitis (HP:0100633)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: CARD8
Phenotype: Gastritis (HP:0005263)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Gene: ARSG
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Ataxia (HP:0001251)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Ring scotoma (HP:0030529)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Anxiety (HP:0000739)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Depression (HP:0000716)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Astigmatism (HP:0000483)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Cataract (HP:0000518)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Scotoma (HP:0000575)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Visual loss (HP:0000572)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: ARSG
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Gene: ARSG
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARSG
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Clonus (HP:0002169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
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: TRAK1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
Phenotype: Progressive (HP:0003676)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Gene: TRAK1
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)