Table 2.
Clinical Features | Patient IV-1 | Patient IV-2 |
---|---|---|
Abnormality of the eye | no | no |
Abnormality of the integument | ||
Cutaneous photosensitivity | yes | yes |
Freckling | yes | yes |
Abnormality of the musculoskeletal system | ||
Flexion contracture | yes | yes |
Microcephaly | yes | yes |
Scoliosis | yes | no |
Abnormality of the nervous system | ||
Cerebellar ataxia | no | no |
Dementia | no | no |
Intellectual disability | yes | yes |
Morphological central nervous system abnormality | Agenesis of the corpus callosum, dilation of the lateral ventricles | no |
Hyperreflexia | yes | yes |
Hearing impairment | yes | yes |
Growth abnormality | ||
Decreased body weight | yes | yes |
Short stature | yes | yes |
Neoplasm | no | no |