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GENATLAS PHENOTYPE

last update : 6/07/2006

Symbol	GSL
Location	20q13.12
Name	neuraminidase deficiency with beta galactosidase deficiency
Other name(s)	Goldberg syndrome
Corresponding gene	CTSA
Main clinical features	dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry red spot, beta-galactosidase deficiency, dysostosis multiplex, and hearing loss
Genetic determination	autosomal recessive
Related entries	including hydrops fetalis
Function/system disorder	metabolism/lysosomal
	congenital malformation
	mental retardation
	eye
Type	disease

Gene product

Name	galactosidase, beta, protective protein (PPGB)

Remark(s)