| Metadata | |
|---|---|
| ID | DOID:0112106 |
| Name | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
| 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. https://pubmed.ncbi.nlm.nih.gov/16001442/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type [EXACT] X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome [EXACT] |
| Parent Relationships |