C4302745_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4302745>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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