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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02676 | Infantile-onset parkinsonism-dystonia | Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay. | Nervous system disease |
(PKDYS1) SLC6A3 [HSA:6531] [KO:K05036] (PKDYS2) SLC18A2 [HSA:6571] [KO:K08155] (PKDYS3) WARS2 [HSA:10352] [KO:K01867] |
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| H02709 | Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect | The aminoacyl-tRNA synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon ... | Congenital malformation |
(NEDMAS) SARS1 [HSA:6301] [KO:K01875] (NDMSCA) VARS1 [HSA:7407] [KO:K01873] (NEDMILEG) NARS1 [HSA:4677] [KO:K01893] (NEMMLAS) WARS2 [HSA:10352] [KO:K01867] (NEDMSBA) WARS1 [HSA:7453] [KO:K01867] |
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