Neurological:
• Global developmental delay
• Seizures
• Spastic quadriplegia
• Brain malformations (including lissencephaly, agenesis of corpus callosum, enlarged posterior horns of lateral ventricles, hypoplasia of cerebellar vermis)
Head and Neck:
• Microcephaly (often severe)
• Facial dysmorphia is not present in all cases, but if seen, may include features such as ptosis, telecanthus, sloping forehead, micrognathia, bulbous nose, open mouth
Other features that have been observed:
• Low weight
• Behavioural disorders (ADHD, Autism)
• Short stature
• Cryptorchidism
• Glaucoma
• Knee contractures
• Adducted thumbs
ANKLE2