We have identified a novel developmental disorder with complex phenotypic 
characteristics involving primarily the nervous system, which appears to be 
common in a specific Gypsy group in Bulgaria. We propose to refer to the 
syndrome as congenital cataracts facial dysmorphism neuropathy (CCFDN). We have 
assigned the disease locus to the telomeric region of chromosome 18q. Linkage 
disequilibrium and highly conserved haplotypes suggest genetic homogeneity and 
founder effect. CCFDN co-localises with an EST which shows high homology to a 
conserved Drosophila gene involved in the regulation of nervous system 
development in vertebrates.