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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02378 | Hypotonia, ataxia, and delayed development syndrome | ... disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) ... | Congenital malformation | EBF3 [HSA:253738] [KO:K09103] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |