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chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Summary
- Synonym
-
- 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.
- Super Class
- X-linked chondrodysplasia punctata 2
External Links
- Disease Ontology
- DOID:0112106
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBN7 | Histone deacetylase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002007 | Frontal bossing |
| HP:0000883 | Thin ribs |
| HP:0008905 | Rhizomelia |
| HP:0000347 | Micrognathia |
| HP:0004322 | Short stature |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0000238 | Hydrocephalus |
| HP:0003196 | Short nose |
| HP:0000962 | Hyperkeratosis |
| HP:0006028 | Metaphyseal cupping of metacarpals |
