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ENMullegama-Klein-Martinez Syndrome (MKMS)
Alias:
Nedxcf
Mkms
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities
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Mullegama-Klein-Martinez Syndrome, also known as nedxcf, is related to roberts-sc phocomelia syndrome and cornelia de lange syndrome. An important gene associated with Mullegama-Klein-Martinez Syndrome is STAG2 (STAG2 Cohesin Complex Component), and among its related pathways/superpathways is Cohesin complex - Cornelia de Lange syndrome. Affiliated tissues include heart and skin, and related phenotypes are failure to thrive and scoliosis
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