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| Term | Meckel syndrome 13 | ID (Ontology) | DOID:0080253 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ ciliopathy | |__Meckel syndrome______________| Meckel syndrome 13 |
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autosomal recessive disease Meckel syndrome |
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| MIM:617562 | |||