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Entry | Name | Description | Category | Pathway | Gene |
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H02755 | Lui-Jee-Baron syndrome | Lui-Jee-Baron syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been ... | Congenital malformation | SPIN4 [HSA:139886] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |