Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

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Subtype of: Hypotonia
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
MONDO_0060666
CTBP1 Causal
27094857 28955726 31041561 33057194 34608870 36341169 37037050 40959803
Open Targets
All1 Causal1 Unknown0
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Wolff-parkinson-white syndrome 1 shared geneCTBP1 Related via 1 shared gene including CTBP1. Colorectal neoplasms 1 shared geneCTBP1 Related via 1 shared gene including CTBP1. Substance abuse 1 shared geneCTBP1 Related via 1 shared gene including CTBP1. Intellectual developmental disorder 1 shared geneCTBP1 Related via 1 shared gene including CTBP1. Attention deficit hyperactivity disorder 1 shared geneCTBP1 Related via 1 shared gene including CTBP1.