GTR Home > Conditions/Phenotypes > Chudley-McCullough syndrome

Summary

Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMCS, DFNB82, LGN, PINS, GPSM2
    Summary: G protein signaling modulator 2

Clinical features

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