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Definition

A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

Acronym

MC5DN4

Synonyms

Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type
Mitochondrial complex V (ATP synthase) deficiency type 4

Keywords

Primary mitochondrial disease

 
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