| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | |
|
618329
OMIM = Online Mendelian Inheritance of Men | |
|
67047 | |
| MICOS complex subunit MIC13 | |
very rare autosomal recessive mutation in the MICOS13 gene | |
| Laboratory findings | 3-Methylglutaconic acid inc (urine) Alanine inc (plasma) L-Lactic acid inc (serum) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | cardiomyopathy cardiomyopathy, hypertrophic Coagulopathy/Coagulation factors decreased spontaneous movements developmental delay early death failure to thrive feeding difficulties, poor feeding hearing defect, deafness hyperreflexia hypertonia, spasticity hypoglycemia hypothermia hypotonia lactic acidosis liver involvement or dysfunction microcephaly (<2 SD for age) onset, infancy onset, neonatal retinal or macular degeneration seizures |