Table 1.
Clinical features of the affected individuals
| Variable | Subject (IV:3) | Subject (IV:5) |
|---|---|---|
| Sex | Male | Male |
| Age | 25 | 20 |
| Microcephaly | + | + |
| Wheelchair | + | + |
| Scoliosis | + | + |
| Synophrys | + | + |
| Hearing impairment | – | – |
| Intellectual disability | + | + |
| Pelvic girdle weakness | + | + |
| Skeletal abnormalities | ++ | ++ |
| Difficulty in rising from the floor | ++ | ++ |
| Syncope attack | + | + |
| Scapular and trunk muscles weakness | + | + |
| Cardiac impairment | + | + |
| Muscle pain and stiffness | – | – |
| Seizures | – | – |
| Cancer | – | – |
| Narrow shoulder | + | + |
| Skin | Normal | Normal |
| Eye sight | Normal | Normal |
| Behavior | Nervous/forgetful | Nervous/forgetful |
| Pregnancy event | Normal | Normal |
+, present; ++, severe phenotype; −, absent