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Entry Name Description Category Pathway Gene
H02503 Richieri-Costa-Pereira syndrome ... stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3. Congenital malformation EIF4A3 [HSA:9775] [KO:K13025]
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