This is a rare autosomal recessive disorder characterised by:
There is a defect in subcellular membranes, similar to that seen in the Chediak-Higashi syndrome.
Death occurs in the third to sixth decades usually from pulmonary fibrosis.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.