TaoMedAI/RareMedData huggingface dataset:
Gene: EMILIN1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EMILIN1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EMILIN1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EMILIN1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: EMILIN1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: POLR3A
Phenotype: Large hands (HP:0001176)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Long fingers (HP:0100807)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Long fingers (HP:0100807)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypertonia (HP:0001276)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Confusion (HP:0001289)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Seizure (HP:0001250)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3A
Phenotype: Ataxia (HP:0001251)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Spasticity (HP:0001257)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Spasticity (HP:0001257)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Long penis (HP:0000040)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Hypospadias (HP:0000047)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Hypoplastic facial bones (HP:0002692)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Dystonia (HP:0001332)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Tremor (HP:0001337)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Dysmetria (HP:0001310)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: High myoinositol in brain by MRS (HP:0025460)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Myalgia (HP:0003326)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Intention tremor (HP:0002080)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Intention tremor (HP:0002080)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Pneumonia (HP:0002090)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Atlantoaxial abnormality (HP:0003413)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Postural tremor (HP:0002174)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Long toe (HP:0010511)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Long toe (HP:0010511)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Congenital onset (HP:0003577)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Synovitis (HP:0100769)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Prominent scalp veins (HP:0001043)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)