" /> Chudley-mccullough syndrome - CISMeF





Preferred Label : Chudley-mccullough syndrome;

Symbol : CMCS;

CISMeF acronym : CMCS; DFNB82;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; DFNB82; Deafness, autosomal recessive 82;

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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the G protein signaling modulator 2 gene (GPSM2, 609245.0001);

Prefixed ID : #604213;

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28/07/2025


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