The clinical features of EOGT-related disorder, per organ system, include:
Skeletal
Skull
- Bony defect of scalp underlying cutis aplasia
Feet
- Hypoplastic terminal phalanges
- Absent middle phalanges of toes (rare)
- Syndactyly (rare)
Skin
- Scalp aplasia cutis congenita
- Cutis marmorata (rare)
- Cafe-au-lait spots on trunk (rare)
- Hypoplastic/absent toenails
Cardiovascular (rare)
- Ventricular septal defect
- Atrial septal defect
- Patent ductus arteriosus
Abdomen (rare)
- Umbilical hernia
Neurologic (rare)
- Periventricular calcifications
- Thick cortex
- Posteriro pachygyria
- Temporal or occipital lobe infarcts