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spondyloepimetaphyseal dysplasia, Genevieve-type
Summary
- Definition
- A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0080576
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NR45 | Sialic acid synthase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0001382 | Joint hypermobility |
| HP:0001498 | Carpal bone hypoplasia |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002162 | Low posterior hairline |
| HP:0002651 | Spondyloepimetaphyseal dysplasia |
| HP:0002868 | Narrow iliac wing |
| HP:0003015 | Flared metaphysis |
