Table 1 Clinical features of patients with mutations in TRAPPC9 gene
No | Reported patients | This study | |
|---|---|---|---|
56 | Patient 1 | Patient 2 | |
Consanguinity | 15/20 (75%) | + | + |
Age in years (mean) | 12.2 | 6 | 4 |
Sex (M/F) | 19/27 | + | + |
Intellectual disability | 53/53 (100%) | + | + |
Microcephaly | 42/47 (89%) | + | + |
Dysmorphism | 24/39 (61%) | − | − |
Delayed motor and speech development | 54/54 (100%) | + | + |
Autistic features | 7/25 (28%) | − | − |
Epilepsy | 8/39 (18%) | − | + |
Obesity | 13/28 (46%) | + | + |
Behavioral abnormalities | 15/18 (83%) | + | + |
MRI findings | |||
 Brain atrophy | 11/14 (78%) | + | + |
 White matter changes | 19/22 (86%) | + | + |
 Thin corpus callosum | 24/26 (92%) | + | + |