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hypotonia with lactic acidemia and hyperammonemia | RareConnect | RareConnect.io

/combined oxidative phosphorylation deficiency

/hypotonia with lactic acidemia and hyperammonemia

hypotonia with lactic acidemia and hyperammonemia

Rare Disease

MONDO:0012718

Also Known As

COXPD5MRPS22 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 5combined oxidative phosphorylation deficiency caused by mutation in MRPS22combined oxidative phosphorylation deficiency type 5combined oxidative phosphorylation deficiency 5

Definition

This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:611719 ↗

Orphanet

Orphanet:137908 ↗

GARD

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