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Keppen-Lubinsky syndrome

Summary

Keppen-Lubinsky syndrome (KPLBS) is a rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, KPLBS, hiGIRK2, KCNJ6
    Summary: potassium inwardly rectifying channel subfamily J member 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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