Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Wiedemann-Rautenstrauch syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease progeroid syndrome
External Links
- Disease Ontology
- DOID:0081333
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
