C4302582_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4302582>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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Anon_0

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