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Klippel-Feil syndrome 4
Summary
- Definition
- A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
- Super Class
- Klippel-Feil syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080592
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IUG5 | Unconventional myosin-XVIIIb |
