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Article

Congenital cataracts-facial dysmorphism-neuropathy.

Orphanet journal of rare diseases - 29 Aug 2006

Kalaydjieva Luba

Abstract excerpt

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired...

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Source

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Identifiers

PMID: 16939648
DOI: 10.1186/1750-1172-1-32
PMCID: PMC1563997

Genes

CTDP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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