Orphanet: Growth and developmental delay hypotonia vision impairment lactic acidosis syndrome

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Disease definition

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

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Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

ORPHA:391348

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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