Additional file 2: Table S2. of 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
IntroductionAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inheri
This pathway shows the genes known in the 15q11.2 region which can cause a copy number variation syndrome (CNV) if deleted or duplicated (or triplicated). These rare genetic syndromes are called 15q11
Alport syndrome with intellectual disability (ATS-ID), also known as AMME complex (OMIM #300194), is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized
