RS80338758 MED12
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What This Variant Does
"A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. [OMIM:?]
Associated Conditions
FG syndrome 1
6 conditions
Blepharophimosis - intellectual disability syndrome
MKB type
X-linked intellectual disability with marfanoid habitus
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome
MED12-related disorder
FG syndrome 1
6 conditions
Blepharophimosis - intellectual disability syndrome
MKB type
X-linked intellectual disability with marfanoid habitus
Intellectual disability
Other Variants in MED12