C4518775_SNOMEDCT_US | Knowledge4COVID-19

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?:definition	Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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