Table 1. Clinical features of patients with previously reported RAB3GAP1 mutations and of the present individuals.
| WARBM1 (total 23 cases) a | Family 1: II-1 | Family 2: II-3 | |
|---|---|---|---|
| Age | 4 years | 16 months | |
| Sex | Male/female | Female | Female |
| Inheritance | AR | AR | AR |
| Causative genes (mutation) | RAB3GAP1 | RAB3GAP1 (p.E8*) | RAB3GAP1 (p.Pro452Hisfs*5) |
| Consanguinity | +b | + | + |
|
Common clinical phenotype
| |||
| Microcephaly | 20/20 (100.0%) | + | +(trigonocephaly) |
| Mental retardation | 18/18 (100.0%) | + | + |
| Congenital cataract | 21/21 (100.0%) | + | + |
| Microphthalmia | 17/19 (89.5%) | + | + |
| Microcornea | 14/17 (82.4%) | + | + |
| Large anteverted ear | 9/10 (90.0%) | NA | + |
| Truncal or axial hypotonia | 18/20 (90.0%) | + | + |
| Spasticity | 18/18 (100.0%) | + | − |
| Polymicrogyria | 14/14 (100.0%) | − | NA |
| Corpus callosum hypoplasia | 17/17 (100.0%) | + | NA |
| Genital abnormalities | 12/17 (70.6%) | NA | − |
|
Uncommon clinical phenotype
| |||
| Hearing impairment | 1/2 (50.0%) | + | + |
| Pectus carinatum | NA | + | − |
| Soft cleft palate | NA | + | − |
Abbreviation: NA, not assessed.
a
Only patients who had clinical details available were counted.
b
All counted patients showed homozygous RAB3GAP1 mutations.