TaoMedAI/RareMedData huggingface dataset:
Gene: COX7B
Phenotype: Retrognathia (HP:0000278)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Microcephaly (HP:0000252)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Microcephaly (HP:0000252)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Colpocephaly (HP:0030048)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Growth delay (HP:0001510)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Histiocytoid cardiomyopathy (HP:0005152)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: High myopia (HP:0011003)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Long philtrum (HP:0000343)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: High forehead (HP:0000348)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Micrognathia (HP:0000347)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Short chin (HP:0000331)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Delayed myelination (HP:0012448)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Wide nose (HP:0000445)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Cataract (HP:0000518)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Sandal gap (HP:0001852)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Visual impairment (HP:0000505)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Glaucoma (HP:0000501)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Cleft earlobe (HP:0011265)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Visual loss (HP:0000572)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Myopia (HP:0000545)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX8A
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Sepsis (HP:0100806)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Death in adolescence (HP:0011421)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX8A
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Gene: COX10
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Focal T2 hyperintense thalamic lesion (HP:0012692)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Agitation (HP:0000713)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Gene: COX10
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX10
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)