| Metadata | |
|---|---|
| ID | DOID:0060653 |
| Name | lethal congenital contracture syndrome 3 |
| Definition | A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17701898 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Israeli Bedouin type B multiple contracture syndrome [EXACT] |
| Parent Relationships |