neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
PPP1R21 Causal
30520571 32985083 29808498 37267906 28940097 38356149
ClinGen —
All1 Causal1 Unknown0
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Desbuquois syndrome 1 shared genePPP1R21 Related via 1 shared gene including PPP1R21. Neurodevelopmental disorder 1 shared genePPP1R21 Related via 1 shared gene including PPP1R21. Colorectal cancer 1 shared genePPP1R21 Related via 1 shared gene including PPP1R21.