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Meckel syndrome 13
Summary
- 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.
- Super Class
- Meckel syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080253
- Mondo Disease Ontology
- OMIM
Related Genes
