Term Name: | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
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Synonyms: | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0112106] ( DOID:0112106 ) |