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* [https://en.wikipedia.org/wiki/XYYYY_syndrome XYYYY syndrome - Wikipedia] |
* [https://en.wikipedia.org/wiki/XYYYY_syndrome XYYYY syndrome - Wikipedia] |
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* [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99330 Orphanet: 49,XYYYY syndrome] |
* [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99330 Orphanet: 49,XYYYY syndrome] |
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[[Category:Intersex Traits]] |
Revision as of 21:32, 10 May 2021
49,XYYYY syndrome is a rare Y chromosomal number intersex CTM/DMAB variation with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set ‘lop’ ears, and micrognatia.[1]