TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA0319L
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: KIAA0319L
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: KIAA0319L
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: COQ8B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Gene: COQ8B
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: COQ8B
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: COQ8B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: L2HGDH
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Seizure (HP:0001250)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Seizure (HP:0001250)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Ataxia (HP:0001251)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Gliosis (HP:0002171)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Infantile onset (HP:0003593)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Aphasia (HP:0002381)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Aphasia (HP:0002381)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Developmental regression (HP:0002376)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Nystagmus (HP:0000639)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: L-2-hydroxyglutaric acidemia (HP:0040147)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: L-2-hydroxyglutaric aciduria (HP:0040144)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: L-2-hydroxyglutaric acidemia; L-2-HGA; L-2-hydroxyglutaric aciduria (ORPHA:79314)
Gene: L2HGDH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: L2HGDH
Phenotype: Strabismus (HP:0000486)
Associated disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Gene: DHDDS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
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: DHDDS
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: DHDDS
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: DHDDS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
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: DHDDS
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: DHDDS
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: DHDDS
Phenotype: Seizure (HP:0001250)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
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: DHDDS
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
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: DHDDS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
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: DHDDS
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: DHDDS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
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: DHDDS
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: DHDDS
Phenotype: Spasticity (HP:0001257)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
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: DHDDS
Phenotype: Variable expressivity (HP:0003828)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
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: DHDDS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Micropenis (HP:0000054)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)