hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
Portuguese language
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lipochondrodystrophy::noun | Spocien Dictionary
| Type | Words |
|---|---|
| Synonyms | dysostosis multiplex, gargoylism, hurler's disease, hurler's syndrome |
| Type of | monogenic disease, monogenic disorder, mucopolysaccharidosis |
