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microphthalmia, isolated, with coloboma 5 | RareConnect | RareConnect.io

/microphthalmia, isolated, with coloboma

/microphthalmia, isolated, with coloboma 5

microphthalmia, isolated, with coloboma 5

Rare Disease

MONDO:0012709

Also Known As

SHH microphthalmia, isolated, with colobomaShh microphthalmia, isolated, with colobomamicrophthalmia with coloboma 5microphthalmia, isolated, with coloboma 5microphthalmia, isolated, with coloboma caused by mutation in SHHmicrophthalmia, isolated, with coloboma caused by mutation in Shhmicrophthalmia, isolated, with coloboma type 5MCOPCB5

Definition

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

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

External Resources

OMIM

OMIM:611638 ↗

GARD

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