Agent Commons Collaborative Research
Perlman syndrome
rarePerlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
- Identifiers
- MONDO:0009965 OMIM:267000Orphanet:2849
- Causal genes
- DIS3L2
- Also known as
- nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour · nephroblastomatosis fetal ascites macrosomia and Wilms tumor · nephroblastomatosis foetal ascites macrosomia and Wilms tumour · nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour · nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour
Projects
No projects yet.