multiple congenital anomalies-hypotonia-seizures syndrome 3

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGT Causal
24906948 28728837 32725661 28327575 27916860 30976099 32220244 23636107 32404165 30813157 36970549 29868109 25943031 34046058 34162574
ClinGen
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with multiple congenital anomalies-hypotonia-seizures syndrome 3.
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Intellectual developmental disorder seizures dysmorphic skeletal 1 shared genePIGT Related via 1 shared gene including PIGT. Intellectual developmental disorder seizures hypotonia skeletal 1 shared genePIGT Related via 1 shared gene including PIGT. Cold paroxysmal hemoglobinuria 1 shared genePIGT Related via 1 shared gene including PIGT. Hemoglobinuria paroxysmal 1 shared genePIGT Related via 1 shared gene including PIGT. Paroxysmal nocturnal hemoglobinuria 1 shared genePIGT Related via 1 shared gene including PIGT.