| Metadata | |
|---|---|
| ID | DOID:0080342 |
| Name | Simpson-Golabi-Behmel syndrome type 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16783569 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |