Hypotonia, infantile, with psychomotor retardation and characteristic facies

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Subtype of: Hypotonia
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
hypotonia, infantile, with psychomotor retardation and characteristic facies
MONDO_0014176
NALCN Unknown
23749988 24075186 25683120
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Hypotonia, infantile, with psychomotor retardation and characteristic facies.
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Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1 shared geneNALCN Related via 1 shared gene including NALCN. Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 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.