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ENMyoectodermal Gonadal Dysgenesis Syndrome (MEGD)
Alias:
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy
Megd
Gdrm
Brosnan-Kennerknecht-Guran-Koc Syndrome Bkgk
Brosnan-Kennerknecht-Guran-Koc Syndrome
Bkgk
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Myoectodermal Gonadal Dysgenesis Syndrome, also known as gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, is related to spermatogenic failure 36. An important gene associated with Myoectodermal Gonadal Dysgenesis Syndrome is PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma). Affiliated tissues include skin and uterus, and related phenotypes are delayed skeletal maturation and smooth philtrum
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