Wiedemann-Rautenstrauch syndrome

Term ID

DOID:0081333

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. (2)

References

• GARD:330
• OMIM:264090
• ORDO:3455

Ontology

Human Disease   ( DOID:0081333 )