Table 1. : summary of the clinical signs associated with TRAPPC9-related AR-ID.
| Clinical sign | Literature patients (22/5 kindreeds) | Patient 1 | Patient 2 | Total | % |
|---|---|---|---|---|---|
| Microcephaly | 17/18 | + | + | 19/20 | 95 |
| Obesity | 4/6 | + | + | 6/8 | 75 |
| Brain abnormalities | 7/7 | + | + | 9/9 | 100 |
| Thin corpus callosum | 5 | + | + | 7/9 | |
| Cerebellar hypoplasia | 5 | + | + | 7/9 | |
| Cerebral white/gray matter hypoplasia | 5 | + | + | 7/9 | |
| Multifocal white matter lesions | 5 | + | + | 7/9 | |
| Peculiar facial appearancea | 9/18? | + | + | ||
| Epilepsy | 2/18 | + | − | 3/20 | 15 |
Abbreviations: Ar, autosomal recessive; ID, intellectual disability.
a
Insufficient literature data.