Table 1 Clinical features of patients with previously reported RAB3GAP1 mutations and of the present individuals

From: Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

  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 +
  1. Abbreviation: NA, not assessed.
  2. aOnly patients who had clinical details available were counted.
  3. bAll counted patients showed homozygous RAB3GAP1 mutations.