HPO ID | HPO Term |
---|---|
HP:0003198 | Myopathy |
HP:0100578 | Lipoatrophy |
HP:0002098 | Respiratory distress |
HP:0008314 | Decreased activity of mitochondrial complex II |
HP:0000007 | Autosomal recessive inheritance |
HP:0003593 | Infantile onset |
HP:0012664 | Reduced left ventricular ejection fraction |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024