Wiedemann-Rautenstrauch syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
progeroid syndrome |
| gptkbp:affects |
infants
|
| gptkbp:alsoKnownAs |
neonatal progeroid syndrome
|
| gptkbp:category |
genetic disorder
syndrome |
| gptkbp:firstDescribed |
gptkb:Hans-Rudolf_Wiedemann
1977 Rudolf Rautenstrauch |
| https://www.w3.org/2000/01/rdf-schema#label |
Wiedemann-Rautenstrauch syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:POLR3A_gene
|
| gptkbp:OMIM |
264090
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
macrocephaly
lipodystrophy premature aging growth retardation scalp hair loss delayed tooth eruption |
| gptkbp:bfsParent |
gptkb:RNA_polymerase_III
|
| gptkbp:bfsLayer |
6
|