Aspartylglucosaminuria (Q61129)

Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase. Clinical signs include slowly developing intellectual deficit, beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.