Congenital cataracts facial dysmorphism neuropathy (CCFDN)
Evidence-based neurology checklist on congenital cataracts facial dysmorphism neuropathy (ccfdn): Genetics This is caused by mutations in the CTDP1 gene on chromosome 18 The gene encodes a protein phosphatase It occurs exclusively in Roma gypsies The transmission is autosomal recessive Main…
Genetics
- This is caused by mutations in the CTDP1 gene on chromosome 18
- The gene encodes a protein phosphatase
- It occurs exclusively in Roma gypsies
- The transmission is autosomal recessive
Main clinical features
Other ocular features
Other features
investigations
References
- Walter MC, Bernert G, Zimmermann U, et al. Long-term follow-up in patients with CCFDN syndrome. Neurology 2014; 83:1337-1344.
- Müllner-Eidenböck A, Moser E, Klebermass N, et al. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004; 111:1415-1423.
- Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis 2006; 1:32.
