Mutations in the EOGT gene may cause the following signs and symptoms:
- Congenital absence of skin (usually of the scalp) with or without the absence of underlying structures such as bone
- Absence or underdevelopment of the toes
- Absence or underdevelopment of the toenails
- Fusion of the fingers or toes
- Heart malformations (rare)
- Brain malformations (rare)
- Umbilical hernia (part of the bowel pushes through the abdominal wall near the belly bottom) (rare)
- Cutis marmorata (reddish or purplish net-like pattern on the skin caused by a disorder of the blood vessels) (rare)