| CFEOM | DRS | MBS | HGPPS | Total |
---|---|---|---|---|---|
No. of patients/families | 89/66 | 11/8 | 17/17 | 5/5 | 122/96 |
Sex | Â | Â | Â | Â | Â |
 Males | 48/89 (53.9%) | 6/11 (54.5%) | 8/17 (47.1%) | 3/5 (60%) | 65/122 (53.3%) |
 Female | 41/89 (46.1%) | 5/11 (45.5%) | 9/17 (52.9%) | 2/5 (40%) | 57/122 (46,7%) |
No. of pedigrees | 22 | 2 | 0 | 0 | 24 |
Sporadic cases | 44 | 6 | 17 | 5 | 72 |
MRI (performed) | Â | Â | Â | Â | Â |
 No. of patients | 64 | 10 | 16 | 4 | 94 |
Multiple malformations* | 17 | 7 | 17 | 5 | 46 |
Craniocerebral malformation | 9 | 1 | 1 | 4 | 15 |