DO_rare_slim has material basis in X-linked chondrodysplasia punctata 2 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ORDO:163966 DOID:0112106 disease_ontology MIM:300863 A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant inheritance