Comparison of MSS and CCFDN features
| Family 1 | Family 2 | ||||||
|---|---|---|---|---|---|---|---|
| Clinical features | MSS | CCFDN | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
| NA: not available. | |||||||
| Short stature | + | + | + | + | + | + | + |
| Microcephaly | +/– | – | + | + | – | – | – |
| Facial dysmorphism | – | + | – | – | + | – | – |
| Microcornea | – | + | – | – | + | + | + |
| Cataracts | + | + | + | + | + | + | + |
| Nystagmus | + | + | + | + | + | + | + |
| Skeletal deformities | + | + | + | + | + | + | + |
| Psychomotor delay | Mild to severe | Mild | + | + | + | + | + |
| Hypotonia | + | – | + | + | – | – | – |
| Cerebellar ataxia | + | Mild | + | + | Mild | + | + |
| Peripheral neuropathy | +/– | + | – | – | + | + | + |
| Acute rhabdomyolysis | – | +/– | – | – | – | – | – |
| Raised serum creatine kinase | +/– | – | – | + | – | – | – |
| Myopathic changes on biopsy | + | – | + | + | NA | NA | NA |
| Hypogonadism | + Hypergonadotrophic | + Hypogonadotrophic? | + | + | – | – | – |
| Cerebellar atrophy | + | +/– | + | + | Discrete | NA | Discrete |
| Cerebral atrophy | +/– | + | – | – | + | NA | + |