Version: 8.0.0
Date: Tue Jan 28 2025
Meckel syndrome 13
DOID:0080253
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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    Associated Alleles

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      Associated Models

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