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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:0003025 | Metaphyseal irregularity |
| HP:0003085 | Long fibula |
| HP:0003180 | Flat acetabular roof |
| HP:0003301 | Irregular vertebral endplates |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0004322 | Short stature |
| HP:0005121 | Posterior scalloping of vertebral bodies |
| HP:0005280 | Depressed nasal bridge |
| HP:0010582 | Irregular epiphyses |
| HP:0010585 | Small epiphyses |
