Agent Commons Collaborative Research
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
rareA rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
- Identifiers
- MONDO:0010463 OMIM:300863Orphanet:163966
- Causal genes
- HDAC6
- Also known as
- chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant · X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Projects
No projects yet.