TaoMedAI/RareMedData huggingface dataset:
Gene: VAC14
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Abnormality of dental structure (HP:0011061)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Low-set ears (HP:0000369)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: High forehead (HP:0000348)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short chin (HP:0000331)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Absent sternal ossification (HP:0006628)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Aplasia/Hypoplasia of the scapulae (HP:0006713)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Cataract (HP:0000518)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Proptosis (HP:0000520)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short toe (HP:0001831)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Tapered finger (HP:0001182)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Decreased circulating biotinidase concentration (HP:0410145)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Seizure (HP:0001250)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Achalasia (HP:0002571)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Achalasia (HP:0002571)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Periarticular subcutaneous nodules (HP:0007470)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Chorea (HP:0002072)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Gliosis (HP:0002171)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Complex organic aciduria (HP:0008336)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)