combined oxidative phosphorylation deficiency 57

Summary
Synonym
  • COXPD57
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
Super Class
autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
Disease Ontology
DOID:0070430
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54675 CRLS1 cardiolipin synthase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0001790 Nonimmune hydrops fetalis
HP:0011924 Decreased activity of mitochondrial complex III
HP:0001252 Hypotonia
HP:0005484 Secondary microcephaly
HP:0000710 Hyperorality
HP:0002376 Developmental regression
HP:0009806 Nephrogenic diabetes insipidus
HP:0001518 Small for gestational age
HP:0000407 Sensorineural hearing impairment
HP:0003623 Neonatal onset
Displaying 1 entry
Gene ID Gene Symbol Description
54675 CRLS1 cardiolipin synthase 1

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Last updated: August 19, 2024