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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02253 | Beaulieu-Boycott-Innes syndrome | ... autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly ... | Congenital malformation | THOC6 [HSA:79228] [KO:K13175] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |