TaoMedAI/RareMedData huggingface dataset:
Gene: ACBD5
Phenotype: Gowers sign (HP:0003391)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Truncal titubation (HP:0030147)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PKDCC
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Short thumb (HP:0009778)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Stage 1 chronic kidney disease (HP:0012623)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Clinodactyly of the 3rd finger (HP:0040024)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Short 5th finger (HP:0009237)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Macrocephaly (HP:0000256)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Obesity (HP:0001513)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Long philtrum (HP:0000343)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Micrognathia (HP:0000347)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Short neck (HP:0000470)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PKDCC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Proptosis (HP:0000520)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Gene: PKDCC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PKDCC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MTRFR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Visual field defect (HP:0001123)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Facial paralysis (HP:0007209)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Areflexia (HP:0001284)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Ataxia (HP:0001251)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Ataxia (HP:0001251)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Dysarthria (HP:0001260)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Dysarthria (HP:0001260)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Paralytic ileus (HP:0002590)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Paralytic ileus (HP:0002590)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Inability to walk (HP:0002540)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Facial diplegia (HP:0001349)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Dysphagia (HP:0002015)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)