C2931549_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C2931549>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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