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GTR Home > Conditions/Phenotypes > Neonatal pseudo-hydrocephalic progeroid syndrome

Summary

Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155, POLR3A
    Summary: RNA polymerase III subunit A

Clinical features

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