C3550973_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C3550973>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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