Fryns Microphthalmia Syndrome

Fryns Microphthalmia Syndrome(来自ICD-11)

别称:

Anophthalmia

Microphthalmia with Facial Clefting

Anophthalmia Plus Syndrome

Leichtman Wood Rohn Syndrome

Anophthalmia-Plus Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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