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Entry Name Description Category Pathway Gene
H02693 Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay ... absent corneal reflex and developmental delay (CCDDRD) caused by mutations in NAUROG1 has been reported. NEUROG1 encodes Ngn1 which is a basic helix-loop-helix transcription factor essential for the formation ... Nervous system disease NEUROG1 [HSA:4762] [KO:K09081]
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