Fig. 2From: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss a Pedigree and picture of family B. b Schematic structure of SPATA5 and identified alterations. Previously reported variants are indicated in black, the variants identified in this study c.1822_1824del; p.Asp608del, c.2081G > A; p.Gly694Glu and c.989_991delCAA; p.Thr330del are indicated in red Back to article page