Pedigree and clinical features. (A) Pedigree of family indicating second grade consanguinity and autosomal recessive mode of inheritance. Individuals with DNA samples available for genetic analyses are marked with asterisks. Arrowheads point to individual for whom whole exome sequencing was performed. (B) Clinical photographs of the affected members V-1 and V-2 showing stiffness and spasticity of upper as well as lower limbs and microcephalic feature.