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Simpson-Golabi-Behmel syndrome type 2
Summary
- Definition
- A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080342
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P37287 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
