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GTR Home > Conditions/Phenotypes > Severe X-linked mitochondrial encephalomyopathy

Severe X-linked mitochondrial encephalomyopathy

Synonyms
Combined oxidative phosphorylation deficiency 6; ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL, AIFM1
    Summary: apoptosis inducing factor mitochondria associated 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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