Pathogenic variants in the MED12 gene can cause a number of multisystem disorders with the following clinical features:
- FG syndrome: developmental delay, intellectual disability, hypotonia, corpus callosum abnormalities, absolute/relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation, broad thumbs/halluces, and behavior issues.
- Lugan syndrome: developmental delay, intellectual disability, hypotonia, corpus callosum abnormalities, large head, tall stature, long face, prominent nasal bridge, high and narrow palate, and short philtrum.
- X-linked Ohdo syndrome: developmental delay, intellectual disability, blepharophimosis, and coarse facial features.
- Nonsyndromic intellectual disability: developmental delay, intellectual disability.