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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01857 |
Filippi syndrome Syndactyly type 1 with microcephaly and intellectual disability |
... facial appearance, including prominent nasal bridge with hypoplastic alae nasi, is similar in all patients. It has been shown that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. | Congenital malformation | CKAP2L [HSA:150468] [KO:K16769] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |