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ENFryns Microphthalmia Syndrome
Alias:
Anophthalmia
Microphthalmia with Facial Clefting
Anophthalmia Plus Syndrome
Leichtman Wood Rohn Syndrome
Anophthalmia-Plus Syndrome
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Fryns Microphthalmia Syndrome, also known as anophthalmia, is related to microphthalmia, syndromic 9 and microphthalmia, syndromic 2. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Gastrulation and Ectoderm differentiation. Affiliated tissues include eye and spinal cord, and related phenotypes are anophthalmia and hypertelorism
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