C0268225_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing mental retardation, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C0268225>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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