Condition: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE


rs876661307 in SASS6 gene and MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.