ABCA2

Clinical Characteristics

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