/ectopia lentis 1, isolated, autosomal dominant

ectopia lentis 1, isolated, autosomal dominant

Rare Disease

MONDO:0007514

Also Known As

ECTOL1FBN1 isolated ectopia lentisectopia lentis 1, isolated, autosomal dominantectopia lentis, familialisolated ectopia lentis caused by mutation in FBN1autosomal dominant isolated ectopia lentis 1

Definition

Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.

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Associated Genes

FBN1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:129600 ↗

GARD

GARD:15062 ↗

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