C1849929_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1849929>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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