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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:0001773 | Short foot |
| HP:0000322 | Short philtrum |
| HP:0004279 | Short palm |
| HP:0001256 | Intellectual disability, mild |
| HP:0006208 | Metaphyseal cupping of proximal phalanges |
| HP:0000256 | Macrocephaly |
| HP:0004331 | Decreased skull ossification |
| HP:0000878 | 11 pairs of ribs |
| HP:0001249 | Intellectual disability |
| HP:0006402 | Distal shortening of limbs |
