Figure 1.

Figure 1.

Photographs of individuals with Warburg micro and Martsolf syndromes

Brothers K2.1 (age 15 years) and K2.2 (age 13 years) with Warburg micro syndrome are homozygous for the RAB3GAP1 p.Thr18Pro variant.

The girl K6.1 (age 13 years) and her brother K6.2 (age 6 years) with Warburg micro syndrome are homozygous for the RAB3GAP1 p.Glu24Val variant.

The boy K48 (age 4 months; age 3 years) with Warburg micro syndrome is homozygous for the RAB3GAP2 c.147G>A p.Trp49Ter variant

The girl K7.1 (age 8 years) and her brother K7.2 (age 4 years) with Martsolf syndrome are homozygous for the p.Asp4ThrTer31 variant.

Sisters K44.1 (age 17 years) and K44.2 (age 14 years) with Martsolf syndrome are homozygous for the RAB3GAP2 p.Arg426Cys variant.

The boy K52 with Warburg micro syndrome is homozygous for the RAB18 p.Thr95Arg variant.

Reused with permission from Handley et al [2013]

From: RAB18 Deficiency

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