TaoMedAI/RareMedData huggingface dataset:
Gene: MGME1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dysphonia (HP:0001618)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Ptosis (HP:0000508)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: DRC1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Gene: DRC1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Gene: DRC1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DRC1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: REEP6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Early young adult onset (HP:0025708)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Gene: REEP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: REEP6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: REEP6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MARS2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Syndactyly (HP:0001159)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive spastic ataxia type 3; Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; SPAX3 (ORPHA:314603)
Gene: MARS2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Gene: MARS2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Gene: MARS2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)