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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02510 | Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis | ... characteristic facial and ectodermal features and tetraparesis (NEDFET) is caused by mutations in GTPBP1 and GTPBP2. They encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis and mRNA ... | Nervous system disease |
(NEDFET1) GTPBP1 [HSA:9567] [KO:K24887] (NEDFET2/JABELS) GTPBP2 [HSA:54676] [KO:K24888] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |