C4750835_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4750835>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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