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GTR Home > Conditions/Phenotypes > Zimmermann-Laband syndrome 2

Zimmermann-Laband syndrome 2

Summary

Zimmerman-Laband syndrome is a developmental disorder characterized by facial dysmorphism with gingival enlargement, bulbous soft nose, and think floppy ears, nail aplasia or hypoplasia, hypertrichosis, joint hypertextensibility, hepato(spleno)megaly, and impaired intellectual development with or without epilepsy (summary by Kortum et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2, ATP6V1B2
    Summary: ATPase H+ transporting V1 subunit B2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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