TaoMedAI/RareMedData huggingface dataset:
Gene: MMACHC
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Personality changes (HP:0000751)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Dementia (HP:0000726)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Dementia (HP:0000726)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Psychosis (HP:0000709)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Childhood onset (HP:0011463)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Young adult onset (HP:0011462)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Hematuria (HP:0000790)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Cystathioninuria (HP:0003153)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Stomatitis (HP:0010280)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Decreased methylmalonyl-CoA mutase activity (HP:0003210)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Cystathioninemia (HP:0003286)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Pallor (HP:0000980)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Jaundice (HP:0000952)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Long face (HP:0000276)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Long face (HP:0000276)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Microcephaly (HP:0000252)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Microcephaly (HP:0000252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Glossitis (HP:0000206)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Small for gestational age (HP:0001518)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Growth delay (HP:0001510)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Ketonuria (HP:0002919)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Low-set ears (HP:0000369)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Low-set ears (HP:0000369)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: High forehead (HP:0000348)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: High forehead (HP:0000348)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Tachycardia (HP:0001649)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Bradycardia (HP:0001662)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Macrotia (HP:0000400)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Elevated circulating palmitoleylcarnitine concentration (HP:0031544)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Visual impairment (HP:0000505)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Visual impairment (HP:0000505)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
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: NECAP1
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: NECAP1
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: NECAP1
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)