Meckel syndrome 13

Term ID

DOID:0080253

Synonyms

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/

References

• OMIM:617562

Ontology

Human Disease   ( DOID:0080253 )