UniProt ID | Protein Name | Source |
---|---|---|
Q99798 | Aconitate hydratase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0000648 | Optic atrophy |
HP:0010864 | Intellectual disability, severe |
HP:0000407 | Sensorineural hearing impairment |
HP:0003593 | Infantile onset |
HP:0001272 | Cerebellar atrophy |
HP:0000252 | Microcephaly |
HP:0002305 | Athetosis |
HP:0001252 | Hypotonia |
HP:0007108 | Demyelinating peripheral neuropathy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024