Affected individuals present with delayed motor and cognitive development within the first year of life, often accompanied by seizures which can be difficult to treat. The muscle tone is usually reduced. Additional symptoms include poor growth and feeding difficulties. It might be necessary to assist feeding by placing a gastric tube. If an MRI is done it might show an atrophy of the brain. One individual published had a poor production of digestive enzymes produced by the pancreas making oral supplementation necessary. The condition might be associated with impaired hormone production, especially thyroid hormones and insulin production. If necessary, these will be supplemented.
As only a very limited number of patients is known to data it is very likely that patients will not have all of these clinical features and/or additional symptoms not described to date.
CCDC186