C4302679_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4302679>
?: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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