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GENATLAS PHENOTYPE

last update : 03-12-2020

Symbol	DDHRND
Location	1p36.2
Name	developmental delay with generalized hypotonia, respiratory insufficiency, and neurodegeneration
Corresponding gene	CLCN6
Main clinical features	developmental delay (DD) with early-onset regression, severe generalized hypotonia, respiratory insufficiency, and early-onset cerebral atrophy and neurogenic bladder at muscle biopsy, mild signs of myopathy brain imaging revealed bilateral diffusion restriction in cerebral peduncles, dorsal brainstem, and/or dorsal midbrain
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
	neuromuscular
Type	disease

Remark(s)

. CLCN6 missense variant p.Tyr553Cys was associated with a severe clinical course (PMID: 33217309))