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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:0000007 | Autosomal recessive inheritance |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000294 | Low anterior hairline |
| HP:0000414 | Bulbous nose |
| HP:0000445 | Wide nose |
| HP:0000470 | Short neck |
