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GTR Home > Conditions/Phenotypes > Hydrolethalus syndrome 2

Hydrolethalus syndrome 2

Summary

Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011). Acrocallosal syndrome (ACLS; 200990) is an allelic disorder with a less severe phenotype. For a discussion of genetic heterogeneity of hydrolethalus syndrome, see 236680. [from OMIM]

Available tests

50 tests are in the database for this condition.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACLS, AGBK, HLS2, JBTS12, MMEDF, UNQ340, KIF7
    Summary: kinesin family member 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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