Smith-lemli-opitz syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SMITH-LEMLI-OPITZ SYNDROME
C0175694
NADSYN1 Unknown — Disgenet
All4 Causal3 Unknown1
Related Diseases Diseases that share the most curated genes with Smith-lemli-opitz syndrome.
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Congenital myotonia 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Myotonia congenita 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Syndactyly of the toes 1 shared geneDHCR7 Related via 1 shared gene including DHCR7. Becker generalized myotonia 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Hyperkalemic periodic paralysis 1 shared geneCLCN1 Related via 1 shared gene including CLCN1.