UniProt ID | Protein Name | Source |
---|---|---|
O60568 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 | |
P19440 | Glutathione hydrolase 1 proenzyme |
HPO ID | HPO Term |
---|---|
HP:0001274 | Agenesis of corpus callosum |
HP:0003593 | Infantile onset |
HP:0000601 | Hypotelorism |
HP:0002075 | Dysdiadochokinesis |
HP:0000020 | Urinary incontinence |
HP:0001347 | Hyperreflexia |
HP:0002282 | Gray matter heterotopia |
HP:0001249 | Intellectual disability |
HP:0000007 | Autosomal recessive inheritance |
HP:0001337 | Tremor |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024