TaoMedAI/RareMedData huggingface dataset:
Gene: MTHFD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFD1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Septic arthritis (HP:0003095)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFD1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFR
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Stroke (HP:0001297)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Stroke (HP:0001297)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Lethargy (HP:0001254)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Seizure (HP:0001250)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Seizure (HP:0001250)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Ataxia (HP:0001251)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Cleft lip (HP:0410030)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Posterior pituitary agenesis (HP:0011756)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Homocystinuria (HP:0002156)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Homocystinuria (HP:0002156)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Apnea (HP:0002104)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Thymus hyperplasia (HP:0010516)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Abnormal facial skeleton morphology (HP:0011821)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Paresthesia (HP:0003401)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Headache (HP:0002315)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Incoordination (HP:0002311)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFR
Phenotype: Thromboembolism (HP:0001907)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MTHFR
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Psychosis (HP:0000709)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Recurrent thrombophlebitis (HP:0004419)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Cystathioninemia (HP:0003286)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFR
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Gene: MTHFR
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Omphalocele (HP:0001539)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Low-set ears (HP:0000369)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: MTHFR
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Methylene tetrahydrofolate reductase deficiency; MTHFR deficiency (ORPHA:395)
Gene: MTHFR
Phenotype: Maternal fever in pregnancy (HP:0030244)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Maternal fever in pregnancy (HP:0030244)
Associated disease: Isolated anencephaly (ORPHA:563609)
Gene: MTHFR
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Hypoplasia of the frontal bone (HP:0005466)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTHFR
Phenotype: Proptosis (HP:0000520)
Associated disease: Isolated exencephaly (ORPHA:563612)
Gene: MTM1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Micropenis (HP:0000054)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Necklace skeletal muscle fibers (HP:0031238)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)