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GENATLAS PHENOTYPE

last update : 08-03-2022

Symbol	DDHNS
Location	7q31.1
Name	developmental delay, hypotonia, and peripheral neuropathy or spasticity
Corresponding gene	NRCAM
Main clinical features	global developmental delay (GDD) and cognitive impairment with dysmorphic features, hydrocephalus intellectual disability, hypotonia, ataxia, peripheral neuropathy or spasticity, and visual and hearing abnormalities brain imaging identified a thin corpus callosum with partially shifted vermis, ventriculomegaly, periventricular leukomalacia, and delayed myelination, while some individuals had normal brain imaging
Genetic determination	autosomal recessive
Function/system disorder	ear
	eye
	neurology
Type	disease

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