The clinical features of this disease, per organ system, include:
Central Nervous System (CNS)
- Nonobstructive hydrocephalus
- Variably dilated ventricles
- Thinning of the corpus callosum
- Thinning of the cerebral cortex
- Lissencephaly
- Colpocephaly
- Simplified gyral patterns
- Gray matter heterotopia
- Intellectual disability (reported in some patients)
- Seizures (reported in some patients)
- Gray matter heterotopia (reported in some patients)
Head and Neck
- Macrocephaly
- Variable dysmorphic facial features (reported in some patients), including:
- Asymmetric face
- Frontal bossing
- Downslanting palpebral fissures
- Posteriorly rotated ears
- Bulbous nose
- Microretrognathia
- Iris coloboma
- Strabismus
- Macular hypoplasia
- Foveal dysplasia
- Optic atrophy (reported in some patients)
- Sensorineural hearing loss (reported in one patient)
Cardiovascular
- Cardiac septal defects
- Aberrant subclavian artery (reported in one patient)
- Portal vein thrombosis (reported in one patient)
Other(s) (rare)
- 2-vessel cord
- Polyhydramnios
- Congenital diaphragmatic hernia
- Lung hypoplasia
- Malrotation of the gut
- Multicystic dysplastic kidney
The disease has a highly variable severity, where some patients may die in infancy while others may have normal neurological development.