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GENATLAS PHENOTYPE

last update : 05-07-2017

Symbol	HLD11
Location	6p21.1
Name	hypomyelinating leukodystrophy-11
Corresponding gene	POLR1C
Main clinical features	neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging; also in any cases additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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