Table 2 Comparison of different phenotypes associated with MED12, MED13, MED13L, and MED12L variants.
MED12 | MED13L | MED13 | MED12L | |||
|---|---|---|---|---|---|---|
Lujan syndrome | FG syndrome | OSMKB | ||||
Growth | ||||||
Tall stature | + | − | − | − | − | − |
Macrocephaly | + | + | − | − | − | − |
Facies | ||||||
Tall prominent forehead | + | + | + | − | − | − |
Blepharophimosis | − | − | + | − | − | − |
Downslanting palpebrae | + | + | + | − | +/- | − |
High nasal root | + | − | − | + | + | +/- |
High narrow palate | + | + | + | − | − | +/- |
Open mouth | + | + | + | + | − | − |
Frontal hair upsweep | − | + | − | − | − | − |
Hand | ||||||
Minor hand anomalies | + | + | + | + | − | +/- |
Neurological | ||||||
Congenital hypotonia | + | + | + | +/- | +/- | +/- |
Intellectual disability | + | + | ++ | ++ | + | + |
Little or no language | − | − | + | + | +/- | − |
Hypernasal voice | + | − | − | − | − | − |
Behavior disturbances | + | + | + | +/- | +/- | + |
Autism spectrum disorder | +/- | − | +/- | +/- | +/- | +/- |
Agenesis/hypoplasia of corpus callosum | + | + | − | +/- | − | + |
Gastrointestinal | ||||||
Anal anomalies | − | + | − | − | − | − |
Chronic constipation | − | + | + | − | +/- | +/- |
