UniProt ID | Protein Name | Source |
---|---|---|
P07954 | Fumarate hydratase, mitochondrial | |
Q99798 | Aconitate hydratase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000218 | High palate |
HP:0000252 | Microcephaly |
HP:0000316 | Hypertelorism |
HP:0000463 | Anteverted nares |
HP:0000505 | Visual impairment |
HP:0000648 | Optic atrophy |
HP:0000980 | Pallor |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024