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GENATLAS PHENOTYPE

last update : 12 -11-2013

Symbol	MNK
Location	Xq21.1
Name	Menkes syndrome
Other name(s)	Kinky hair disease Steely hair disease Cooper transport disease
Corresponding gene	ATP7A
Other symbol(s)	MK
Main clinical features	disorder of copper metabolism, lethal in childhood early retardation in growth, peculiar hair focal cerebral and cerebellar degeneration, mental retardation severe neurologic impairment began within a month or two of birth and progressed rapidly to decerebration
Genetic determination	sex linked
Function/system disorder	metabolism/metal
Type	disease

Gene product

Name	copper-transporting ATPase (ATP7A), splice-site mutation

Remark(s)