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GTR Home > Conditions/Phenotypes > Pettigrew syndrome

Summary

Pettigrew syndrome is characterized by mental retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome). See 220219 for another mental retardation syndrome with Dandy-Walker malformation. [from OMIM]

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B, AP1S2
    Summary: adaptor related protein complex 1 subunit sigma 2

Clinical features

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