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GENATLAS PHENOTYPE

last update : 07/11/06

Symbol	SCHND1
Location	22q13.2
Name	Schindler disease type 1
Other name(s)	neuroaxonal dystrophy , Schindler type . NAGAdeficiency type I . NAGAdeficiency type III
Corresponding gene	NAGA
Main clinical features	type I is an infantile-onset neuroaxonal dystrophy . type III is an intermediate disorder with mild-to-moderate neurologic manifestations . neurologic symptoms and developmental delay followed by rapid progressive psychomotor deterioration, with abnormal pattern of urinary oligosaccharides demonstrated by thin-layer chromatography
Genetic determination	autosomal recessive
Function/system disorder	neurology
	metabolism/lysosomal
Type	disease