The condition may present from infancy with hypotonia and global developmental delay. Language development is highly variable with some individuals speaking in short phrases and others not obtaining any speech. Motor abilities are similarly variable; some patients can walk short distances and use stairs, while others are wheelchair bound. All individuals described to date have had severe social impairment and are unable to perform selfcare tasks. Neurological complications include torticollis, spasticity, seizures (in one case) and dystonia (in one case). Cataracts may develop in childhood and strabismus has also been observed. Immunodeficiency and poor weight gain has been observed in one family, however, whether this is a core feature of the syndrome or due to an as yet unknown genetic cause is unclear. Insulin resistance and hypertrichosis have been observed in one family and in another unpublished case.
COPB1