This manifestation is not generally considered to be consistent with autosomal recessive microcephaly and therefore it is highly possible that the deafness may be caused by a further gene mutation, independent of CDK5RAP2. We speculated that such a mutation, in a consanguineous family like this, might be recessive, caused by an additional homozygous mutation. The gene discussed is CDK5RAP2; the disease is deafness.