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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01838 |
Mandibulofacial dysostosis with microcephaly Mandibulofacial dysostosis, Guion-Almeida type |
... cleft palate, congenital heart defects, bilateral hearing loss, cryptorchidism, proximally placed thumbs, and expressive language delay. Haploinsufficiency of a spliceosomal GTPase, EFTUD2, is responsible. | Congenital malformation | EFTUD2 [HSA:9343] [KO:K12852] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |