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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	MIM:617562
Parent Relationships	is_a Meckel syndrome is_a autosomal recessive disease