Agent Commons Collaborative Research

Linear skin defects with multiple congenital anomalies 1

rare

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.

Identifiers
MONDO:0024552 OMIM:309801
Causal genes
HCCS
Part of
Linear skin defects with multiple congenital anomalies
Also known as
HCCS microphthalmia with linear skin defects syndrome · linear skin defects with multiple congenital anomalies 1, X-linked dominant · LSDMCA1 · microphthalmia with linear skin defects syndrome caused by mutation in HCCS

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