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oculocutaneous albinism type 7 | RareConnect | RareConnect.io

/oculocutaneous albinism

/oculocutaneous albinism type 7

oculocutaneous albinism type 7

Rare Disease

MONDO:0014070

Also Known As

LRMDA oculocutaneous albinismOCA7oculocutaneous albinism caused by mutation in LRMDAalbinism, oculocutaneous, type 7albinism, oculocutaneous, type VIIoculocutaneous albinism type VII

Definition

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

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:615179 ↗

Orphanet

Orphanet:352745 ↗

GARD

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