Disease_Mapped_To_Gene
PORCN Gene
Rare Non-Neoplastic Disorder
Focal Dermal Hypoplasia
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.
C0016395
C84715
Disease or Syndrome
Focal Dermal Hypoplasia
Focal Dermal Hypoplasia