Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

http://purl.obolibrary.org/obo/DOID_0081333

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. [ url:https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/23696134/ ]

Synonyms: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL

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database cross reference

ORDO:3455
GARD:330
MIM:264090

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DO_rare_slim

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disease_ontology

DOID:0081333

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Subclass of:

autosomal recessive disease
progeroid syndrome
has material basis in some autosomal recessive inheritance
existence starts during some Neonatal onset