Affected individuals have significant developmental delays, and require lifelong care. Some learn to speak a few words, others have not developed speech. Several patients did not learn to walk independently. The head is usually larger than average.
Medical issues that can occur are seizures, hydrocephalus (fluid accumulation in the brain), impaired vision, feeding difficulties, and high/ low muscle tone.
On brain imaging, distinct abnormalities in the brain structure can be identified.
EML1