TaoMedAI/RareMedData huggingface dataset:
Gene: IARS2
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Poikiloderma (HP:0001029)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Athetosis (HP:0002305)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Anemia (HP:0001903)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Short stature (HP:0004322)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Short stature (HP:0004322)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Diffuse spongiform leukoencephalopathy (HP:0006943)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Short long bone (HP:0003026)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Flat forehead (HP:0004425)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Myopathy (HP:0003198)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Short nose (HP:0003196)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Short thorax (HP:0010306)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Alopecia (HP:0001596)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Growth delay (HP:0001510)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Growth delay (HP:0001510)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: High forehead (HP:0000348)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Breech presentation (HP:0001623)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Macrotia (HP:0000400)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Strabismus (HP:0000486)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Pes planus (HP:0001763)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cataract (HP:0000518)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)