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GENATLAS PHENOTYPE

last update : 16/01/08

Symbol	SAPA
Location	10q22.1
Name	saposin A deficiency
Corresponding gene	PSAP
Main clinical features	progressive encephalopathy and abnormal myelination in the cerebral white matter, presenting as Krabbe disease
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)