Term Name: | Wiedemann-Rautenstrauch syndrome |
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Synonyms: | Neonatal progeroid syndrome, PROGEROID SYNDROME, NEONATAL |
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. |
Ontology: | Human Disease [DOID:0081333] ( DOID:0081333 ) |