has material basis in autosomal recessive disease Robinow syndrome autosomal recessive Robinow syndrome 2 A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. DOID:0060974 MIM:618529 disease_ontology autosomal recessive inheritance