TaoMedAI/RareMedData huggingface dataset:
Gene: RASGRP1
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Increased CD21low B cell proportion (HP:0033207)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: RASGRP1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Gene: DNAL4
Phenotype: Abnormal corticospinal tract morphology (HP:0002492)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MIRROR MOVEMENTS 3 (OMIM:616059)
Gene: DNAL4
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MIRROR MOVEMENTS 3 (OMIM:616059)
Gene: DNAL4
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DNAL4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: MIRROR MOVEMENTS 3 (OMIM:616059)
Gene: LRPPRC
Phenotype: Fetal distress (HP:0025116)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Poor speech (HP:0002465)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: CNS demyelination (HP:0007305)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Aortic valve atresia (HP:0010883)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Seizure (HP:0001250)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hypotonia (HP:0001252)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Ataxia (HP:0001251)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Spasticity (HP:0001257)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Inability to walk (HP:0002540)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Tremor (HP:0001337)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Tachypnea (HP:0002789)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Dysphagia (HP:0002015)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Chorea (HP:0002072)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Gliosis (HP:0002171)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Persistent lactic acidosis (HP:0004898)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Bilateral superior vena cava (HP:0033379)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Esodeviation (HP:0020045)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Developmental regression (HP:0002376)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hirsutism (HP:0001007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Dyskinesia (HP:0100660)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)