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Article

Congenital cataracts, facial dysmorphism, and neuropathy syndrome.

Pediatric neurology - 1 Sept 2011

Tzifi Flora, Pons Roser, Athanassaki Corina, Poulou Myrto, Kanavakis Emmanuel

Abstract excerpt

Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the...

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Identifiers

PMID: 21824574
DOI: 10.1016/j.pediatrneurol.2011.05.008

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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