| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (MC1DN19) | |
| FOXRED1 | |
|
618241
OMIM = Online Mendelian Inheritance of Men | |
|
2609 | |
| FAD-dependent oxidoreductase domain-containing protein 1 | |
very rare autosomal recessive mutation in the FOXRED1 gene | |
| Laboratory findings | D-Glucose dec (serum) L-Lactic acid inc (urine) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum) |
| Symptoms | abnormal movement ataxia blindness, visual loss, visual impairment cardiomyopathy cardiomyopathy, hypertrophic cerebellar atrophy or hypoplasia defect of walking, running, rising or climbing developmental delay epilepsy feeding difficulties, poor feeding gait disturbance hypoglycemia hypotonia lactic acidosis microcephaly (<2 SD for age) myelination, incomplete, hypomyelination myoclonus onset, infancy onset, neonatal optic atrophy respiratory insufficiency scoliosis seizures speech development, delayed, abnormal white matter changes, abnormalities |