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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |