| Metadata | |
|---|---|
| ID | DOID:0080253 |
| Name | Meckel syndrome 13 |
| Definition | A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. https://pubmed.ncbi.nlm.nih.gov/26123494/ |
| Xrefs | |
| Parent Relationships |
is_a Meckel syndrome |