A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)
primary autosomal recessive microcephaly 12
primary autosomal recessive microcephaly 13
primary autosomal recessive microcephaly 14
primary autosomal recessive microcephaly 15
primary autosomal recessive microcephaly 16
primary autosomal recessive microcephaly 17
primary autosomal recessive microcephaly 19
primary autosomal recessive microcephaly 2 with or without cortical malformations