The clinical features of this disease, per organ system, include:
HEAD & NECK
Head:
- Microcephaly
Face:
- Frontal bossing
- Hypertelorism
- Malocclusion
- High arched palate
- Low-set ears
Eyes:
- Hypertelorism
- Hypertropia (rare)
- Pseudoptosis
- Dysplastic optic disc
- Abnormal eye movements
Mouth:
- Tongue lobulation
- Tongue hamartoma
- Cleft palate
- Cleft lip
- Bifid uvula
- Multiple oral frenula
CARDIOVASCULAR
Heart
- Tetralogy of Fallot (rare) Ventricular septal defect (rare)
GASTROINTESTINAL
- Hirschsprung disease (rare)
GENITOURINARY
Kidneys
- Fused kidneys (rare)
SKELETAL
Spine
- Scoliosis (rare)
Hands
- Postaxial polydactyly
- Camptodactyly
- Clinodactyly
- Syndactyly
Feet
- Postaxial polydactyly
NEUROLOGIC
Central Nervous System
- Intellectual disability
- Global developmental delay
- Early-onset Seizures
- Hypotonia
- Thinning of cerebral cortex in front of the ventricular collateral trigone
- Signal abnormalities in the subcortical and deep white matter of the cerebral hemispheres
- Cerebellar vermis hypoplasia (rare)
- Ataxia
- Hearing loss
- Asymmetric dilation of lateral ventricles (rare)
- Agenesis of the corpus callosum (in some patients)