/linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 1
Rare Disease
MONDO:0024552
Also Known As
HCCS microphthalmia with linear skin defects syndromelinear skin defects with multiple congenital anomalies 1linear skin defects with multiple congenital anomalies 1, X-linked dominantmicrophthalmia with linear skin defects syndrome caused by mutation in HCCSLSDMCA1Midas syndromemicrophthalmia with linear skin defectsmicrophthalmia, dermal aplasia, and sclerocorneamicrophthalmia, syndromic 7
Definition
Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.
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