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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00583 | Opitz-GBBB syndrome | Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB ... | Congenital malformation |
(GBBB1) MID1 [HSA:4281] [KO:K08285] (GBBB2) SPECC1L [HSA:23384] [KO:K23028] |
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| H02202 | Oblique facial cleft | ... is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results ... | Congenital malformation | SPECC1L [HSA:23384] [KO:K23028] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |