| MYOPATHY, MITOCHONDRIAL, AND ATAXIA (MMYAT) | |
|
617675
OMIM = Online Mendelian Inheritance of Men | |
|
502423 | |
| Protein misato homolog 1 | |
very rare autosomal recessive autosoma dominant mutation in the MSTO1 gene | |
| Laboratory findings | Citrulline dec (plasma) Creatine kinase inc (serum) Vitamin D dec (plasma) |
| Symptoms | amenorrhea ataxia behavior, anxiety behavior, autism or autistic-like cerebellar atrophy or hypoplasia defect of walking, running, rising or climbing depression dysmorphism growth retardation, poor growth hair, abnormal (thin, brittle, fine) high arched palate hyperthyroidism hyporeflexia hypotonia intellectual disability/intellectual developmental disorder joint hypermobilty, dislocations, laxity learning disability motor retardation muscle atrophy muscle weakness onset, adolescent onset, childhood retinopathy short stature skoliosis, kyphoskoliosis tremor or twitching white matter changes, abnormalities |