go back

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (COXPD46)

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (COXPD46)
MRPS23
618952
OMIM = Online Mendelian Inheritance of Men
---
---
17q22
---
very rare
autosomal recessive
mutation in the MRPS23 gene
Laboratory findings
Symptoms    liver involvement or dysfunction
    onset, childhood