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Combined Oxidative Phosphorylation Deficiency 2
Known as:
COXPD2
, Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis
National Institutes of Health
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9 relations
Acidosis, Lactic
Agenesis of corpus callosum
Autosomal recessive inheritance
Brachydactyly
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Broader (1)
Craniofacial Abnormalities
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