Meckel syndrome 13 (DOID:0080253)
Alliance: disease page
Alt IDs: OMIM:617562
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.