Home Page
References OMIM Gene GeneReviews HGMD HGNC
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