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GENATLAS PHENOTYPE

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
	neurology
Type	disease

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