| Metadata | |
|---|---|
| ID | DOID:0081333 |
| Name | Wiedemann-Rautenstrauch syndrome |
| 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. https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/, https://pubmed.ncbi.nlm.nih.gov/23696134/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Neonatal progeroid syndrome [EXACT] PROGEROID SYNDROME, NEONATAL [EXACT] |
| Parent Relationships |
is_a progeroid syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance existence starts during some Neonatal onset |