Disease_Mapped_To_Gene
Perlman Syndrome
A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.
C0796113
C103144
CCPS
Cellosaurus
Disease or Syndrome
Perlman Syndrome
Perlman Syndrome
Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism
Cellosaurus Disease Terminology
DIS3L2 Gene
Childhood Cancer Predisposition Study Terminology
CCPS Disease Terminology
Cellosaurus Terminology
Syndrome