| MITOCHONDRIAL ASPARTATE AMINOTRANSFERASE DEFICIENCY | |
|
138150
OMIM = Online Mendelian Inheritance of Men | |
|
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| Aspartate aminotransferase, mitochondrial | |
| 2.6.1.1 | |
| Laboratory findings | |
| Symptoms | hypertonia, spasticity microcephaly (<2 SD for age) onset, childhood pain, abdominal seizures |