A consultation with a pediatric neurologist and/or a clinical geneticist is required to:
•    evaluate intellectual disability
•    assess delays of speech and language development
•    assess motor skills

Recommended specialized consultations and exams are:
•    a neurologic evaluation, including EEG and brain MRI, if seizures are present
•    ophthalmologic examination to detect eye/vision impairment, especially cataract
•    dermatological assessment

Follow-up consultations with a clinical geneticist and/or genetic counselor are recommended.