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Entry Name Description Category Pathway Gene
H01921 MICPCH syndrome
Syndromic X-linked mental retardation, Najm type
... kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Congenital malformation CASK [HSA:8573] [KO:K06103]
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