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Chudley-McCullough syndrome

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

68

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Genes

External Links

  • OMIM

    604213

  • Orphanet

    314597

  • HPO
  • Medgen

    C1858695

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