Table 2.

Incidence of Main Clinical Features Seen in Males with XLOS with MID1 Pathogenic Variants

FindingNumber of Males with Finding / Total Number of Males
Hypertelorism68 / 69
CL/P38 / 73
LTE defects46 / 73
Heart defects16 / 73
Anal defects16 / 73
Hypospadias63 / 73
ID 1/developmental delay25 / 73
Brain abnormalities10 / 25 2

Intellectual disability


Males with XLOS undergoing MRI examination

From: X-Linked Opitz G/BBB Syndrome

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Adam MP, Ardinger HH, Pagon RA, et al., editors.
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