Congenital limbs-face contractures-hypotonia-developmental delay syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CONGENITAL LIMBS-FACE CONTRACTURES-HYPOTONIA-DEVELOPMENTAL DELAY SYNDROME
562528
NALCN Unknown
31410997
Orphanet
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Congenital limbs-face contractures-hypotonia-developmental delay syndrome.
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Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1 shared geneNALCN Related via 1 shared gene including NALCN. Sheldon-hall syndrome 1 shared geneNALCN Related via 1 shared gene including NALCN. Digitotalar dysmorphism 1 shared geneNALCN Related via 1 shared gene including NALCN. Distal arthrogryposis 1 shared geneNALCN Related via 1 shared gene including NALCN. Temporal lobe epilepsy 1 shared geneNALCN Related via 1 shared gene including NALCN.