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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02533 | Kaufman oculocerebrofacial syndrome | ... characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function. | Congenital malformation | UBE3B [HSA:89910] [KO:K10588] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |