Mutations in ABCA2 gene may lead to:
• Intellectual disability
• Global developmental delay (e.g. delayed walking, delayed speech, etc)
• Decreased muscle tone
• Seizures (seen in most reported cases)
• Ataxia (seen in some reported cases)
• Mild malformations involving the face (seen in some reported cases), including features such as deep-set eyes and a prominent forehead.
• Smaller-than-normal head
ABCA2