Disorders
Combined Oxidative Phosphorylation Deficiency 2
Synonym(s): Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis, COXPD2
| Gene | Locus | Protein |
|---|---|---|
| MRPS16 | 10q22.1 | 28S ribosomal protein S16, mitochondrial |
Synonym(s): Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis, COXPD2
| Gene | Locus | Protein |
|---|---|---|
| MRPS16 | 10q22.1 | 28S ribosomal protein S16, mitochondrial |