C4305256_SNOMEDCT_US | Knowledge4COVID-19

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?:definition	This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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