C0338503_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances.
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?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/NCI_NICHD>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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