Mutations in the ANKLE2 gene may lead to:
• Small-than-normal head (microcephaly)
• Global developmental delay (e.g. delayed walking, delayed speech, etc)
• Paralysis with increased tone of the muscles
• Seizures
• Malformations of the brain seen on MRI
• Mild malformations involving the face (seen in some reported cases), including features such as droopy eyelids, sloping forehead, small jaw, bulbous nose, and open mouth.
• Other features that may be seen include low weight, short stature, glaucoma (increased pressure in the eye), and behavioural disorders such as attention-deficit hyperactivity disorder (ADHD).
ANKLE2