Parents

The features of this condition usually present soon after birth with slow development and small head . In childhood the patient may develop cataracts (a problem where the lens of the eye becomes clouded over) and continue to have difficulties with movement and learning. This is a very rare condition and only two families have been reported to date. The condition is recessive meaning there is a one in four chance of it recurring in subsequent child and a one in two chance of a subsequent child carrying a variant but not being affected. The risk of a carrier passing on the disease is low unless they are related to their partner.