Search Result

Top
1 to 1 of 1
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]
1 to 1 of 1

[ KEGG | DISEASE | DRUG | ENVIRON | MEDICUS ]