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GENATLAS PHENOTYPE

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

Remark(s)