Wiedemann-Rautenstrauch Syndrome (WDRTS)

Alias:
Neonatal Progeroid Syndrome
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome
Progeroid Syndrome, Neonatal
Wdrts
Congenital Pseudohydrocephalic Progeroid Syndrome
Neonatal Pseudohydrocephalic Progeroid Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Wiedemann-Rautenstrauch Syndrome, also known as neonatal progeroid syndrome, is related to leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and leukodystrophy, and has symptoms including action tremor and ataxia, truncal. An important gene associated with Wiedemann-Rautenstrauch Syndrome is POLR3A (RNA Polymerase III Subunit A). Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and hypertelorism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
2
46
31

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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