Table 2. Comparison of different phenotypes associated with MED12, MED13, MED13L and MED12L variants.
OSMKB: Ohdo, syndrome, Maat-Kievit-Brunner type. To note that intellectual disability was classified as mainly mild to moderate (+) or mainly moderate to severe (++). Others signs were considered as very frequent (+), occasional (+/−) or absent/rare (−).
| 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 | + | + | − | +/− | − | + |
| Gastro-intestinal | ||||||
| Anal anomalies | − | + | − | − | − | − |
| Chronic constipation | − | + | + | − | +/− | +/− |