TABLE 1.
Clinical features of the patient according to what is described for NESCAV syndrome.
| Clinical features associated with NESCAV syndrome | Patient with c.506G > C, p.Arg169Thr de novo missense variant |
| Moderate to severe developmental delay/ID | + |
| Severe motor delay | + |
| Ataxia | + |
| Peripheral neuropathy | + |
| Axial hypotonia | + |
| Spastic paraparesis | + |
| Hyperreflexia | + |
| Microcephaly | + |
| Optic nerve atrophy | + |
| Abnormal eye movements | + |
| Mild to moderate language delay | + |
| Epilepsy | + |
| Epileptic abnormalities on EEG | + |
| Metatarsus adductus | + |
| MRI | |
| Brain atrophy | – |
| Diminished cerebral white matter | – |
| Severe and progressive cerebellar atrophy | + |
+, present; –, not present.