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Chudley-McCullough syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0011411:  Chudley-McCullough syndrome
GARD:0000086: 
MESH:C535459: 
Orphanet:314597: 
UMLS:C1858695: