Aspartylglucosaminuria (Q61129): Difference between revisions
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| description / pt-br | description / pt-br | ||
A aspartilglicosaminúria é uma doença autossômica recessiva de depósito lisossomal pertencente ao grupo da oligossacaridose, devido à deficiência de N-aspartilglicosaminidase. Os sinais clínicos incluem deficiência intelectual de desenvolvimento lento, começando com falta de jeito, fala tardia e hipercinesia, dismorfismo facial leve e cifoescoliose leve. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
