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Yuksel-Vogel-Bauer syndrome

Synonyms
Yuksel-Vogel-Bauser syndrome

Summary

Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system. Features may include hydrocephalus, developmental delay, cleft lip/palate, cystic renal dysplasia or tubular leak, cardiac septal defects, and broad hands and feet (Yuksel et al., 2019; Marquez et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LP-DLG, P-DLG5, PDLG, YUVOB, DLG5
    Summary: discs large MAGUK scaffold protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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