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Intellectual developmental disorder with hypertelorism distinctive facies
- ... it is unclear whether these conditions are distinct disorders or part of a disease ... delay, distinctive facial features, vision problems, and defects in the ...
- ... Tests of HDAC8 PubMed HISTONE DEACETYLASE 8; HDAC8 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE; WTS NCBI ... variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet. 2012 Aug;49(8):539- ...