Term Name:	Meckel syndrome 13
Synonyms:
Definition:	A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0080253]   ( DOID:0080253 )