Aspartylglucosaminuria (Q61129): Difference between revisions
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Revision as of 08:37, 14 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2143470200 |
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| English | Aspartylglucosaminuria |
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. |
