UniProt ID | Protein Name | Source |
---|---|---|
Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0002383 | Infectious encephalitis |
HP:0001252 | Hypotonia |
HP:0010864 | Intellectual disability, severe |
HP:0000708 | Atypical behavior |
HP:0006887 | Intellectual disability, progressive |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0000256 | Macrocephaly |
HP:0004375 | Neoplasm of the nervous system |
HP:0001285 | Spastic tetraparesis |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
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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