" /> Microphthalmia/coloboma 1 - CISMeF





Preferred Label : Microphthalmia/coloboma 1;

Symbol : MCOPCB1;

CISMeF acronym : MCOPCB1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microphthalmia, colobomatous, 1;

Description : Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure. The defect can be unilateral or bilateral and can involve the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically, coloboma is often associated with microphthalmia or clinical anophthalmia and can occur as part of complex malformation syndromes (summary by Wang et al., 2012). - Genetic Heterogeneity of Isolated Microphthalmia With Coloboma Isolated colobomatous microphthalmia-1 (MCOPCB1) has been mapped to the X chromosome. MCOPCB2 (605738) has been mapped to chromosome 15q12-q15.;

Prefixed ID : %300345;

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29/07/2025


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