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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2017
Symbol HLD14
Location 20p13
Name leukodystrophy, hypomyelinating 14
Corresponding gene ATRN
Main clinical features
  • neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system, characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease