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GTR Home > Conditions/Phenotypes > Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

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

Synonyms
Combined oxidative phosphorylation deficiency 18
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCRM1, COXPD18, SLC56A4, SFXN4
    Summary: sideroflexin 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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