C4518585_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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