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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2013
Symbol DDCH
Location Xq28
Name deafness, dystonia, and central hypomyelination
Corresponding gene BCAP31 , ABCD1
Main clinical features
  • microcephaly with severe intellectual disability, mental retardation, dystonia, and sensorineural deafness, pyramidal signs, quadriplegia, early death
  • at MRI, periventricular or diffuse hypomyelination with variable cerebral or cerebellar atrophy.
  • Genetic determination sex linked
    Related entries including CADDS (contiguous ABCD1 DXS1357E, ABCD1 deletion syndrome) (PMID: 24011989)
    Function/system disorder mental retardation
    Type disease