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obsolete SC phocomelia syndrome
Summary
- Synonym
-
- Hypomelia Hypotrichosis Facial hemangioma syndrome
- SC PSEUDOTHALIDOMIDE SYNDROME
- Definition
- A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.
External Links
- Disease Ontology
- DOID:0050536
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08582 | Melanotransferrin | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
