TaoMedAI/RareMedData huggingface dataset:
Gene: IARS2
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Cataract (HP:0000518)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Severe viral infection (HP:0031691)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: IARS2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CAGSSS; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
Gene: IARS2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Esotropia (HP:0000565)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Gene: IARS2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IARS2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IARS2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Leigh disease; Infantile subacute necrotizing encephalopathy; Leigh syndrome (ORPHA:506)
Gene: POLR3B
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Seizure (HP:0001250)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Ataxia (HP:0001251)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Ataxia (HP:0001251)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Spasticity (HP:0001257)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Dysphagia (HP:0002015)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Dysphagia (HP:0002015)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Spastic gait (HP:0002064)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3B
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Drooling (HP:0002307)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Oligodontia (HP:0000677)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Oligodontia (HP:0000677)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Natal tooth (HP:0000695)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hypodontia (HP:0000668)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Hypodontia (HP:0000668)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hypodontia (HP:0000668)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)