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Khan-Khan-Katsanis syndrome

Synonyms
3K SYNDROME

Summary

Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 3KS, CAP-G2, CAPG2, LUZP5, MTB, hCAP-G2, NCAPG2
    Summary: non-SMC condensin II complex subunit G2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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