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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02617 | Bryant-Li-Bhoj neurodevelopmental syndrome | ... structural brain abnormalities, hypotonia, and visual impairment. De novo germline missense mutations in H3-3A and H3-3B have been reported in patients. Both H3-3A and H3-3B encode H3.3, the histone H3 variant ... | Congenital malformation |
(BRYLIB1) H3-3A [HSA:3020] [KO:K11253] (BRYLIB2) H3-3B [HSA:3021] [KO:K11253] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |