Version: 8.0.0
Date: Tue Jan 28 2025
Wiedemann-Rautenstrauch syndrome
DOID:0081333
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Wiedemann-Rautenstrauch syndrome

Definition
A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Synonyms
  • Neonatal progeroid syndrome
  • PROGEROID SYNDROME, NEONATAL
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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