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GTR Home > Conditions/Phenotypes > Curly hair, ankyloblepharon, nail dysplasia syndrome

Curly hair, ankyloblepharon, nail dysplasia syndrome

Synonyms
Baughman syndrome; CHAND syndrome

Summary

CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4, RIPK4
    Summary: receptor interacting serine/threonine kinase 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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