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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02491 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | ... with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency, and developmental ... | Congenital malformation | EXTL3 [HSA:2137] [KO:K02370] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |