TaoMedAI/RareMedData huggingface dataset:
Gene: POLR3A
Phenotype: Prominent scalp veins (HP:0001043)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Action tremor (HP:0002345)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Irregular sclerotic endplates (HP:0008476)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cervical vertebral dysplasia (HP:0008469)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Clumsiness (HP:0002312)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Chiari malformation (HP:0002308)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Drooling (HP:0002307)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Drooling (HP:0002307)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Fever (HP:0001945)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Entropion (HP:0000621)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Entropion (HP:0000621)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Congenital generalized lipodystrophy (HP:0009059)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Oligodontia (HP:0000677)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Oligodontia (HP:0000677)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Natal tooth (HP:0000695)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Natal tooth (HP:0000695)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Increased subcutaneous truncal adipose tissue (HP:0009003)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Ectropion (HP:0000656)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Synophrys (HP:0000664)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Short stature (HP:0004322)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Short stature (HP:0004322)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Short stature (HP:0004322)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Caesarean section (HP:0011410)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Narrow chest (HP:0000774)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Slender long bone (HP:0003100)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Short humerus (HP:0005792)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Short humerus (HP:0005792)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Thin ribs (HP:0000883)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Short femur (HP:0003097)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Short femur (HP:0003097)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Sudanophilic leukodystrophy (HP:0003269)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Dry skin (HP:0000958)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Thin skin (HP:0000963)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Thin skin (HP:0000963)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Osteopenia (HP:0000938)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Congenital malformation of the left heart (HP:0045017)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Retrognathia (HP:0000278)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Alopecia (HP:0001596)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Malar flattening (HP:0000272)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Malar flattening (HP:0000272)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Thin long bone diaphyses (HP:0006470)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Parietal bossing (HP:0000242)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Slender build (HP:0001533)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Growth delay (HP:0001510)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Small earlobe (HP:0000385)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Absent earlobe (HP:0000387)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Dysplastic pulmonary valve (HP:0005164)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Low-set ears (HP:0000369)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Low-set ears (HP:0000369)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Broad forehead (HP:0000337)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)