hypotonia, infantile, with psychomotor retardation and characteristic facies 2

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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 2
UNC80 Causal
26708751 26708753 26545877
ClinGen
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with hypotonia, infantile, with psychomotor retardation and characteristic facies 2.
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Global developmental delay 1 shared geneUNC80 Related via 1 shared gene including UNC80. Intellectual developmental disorder 1 shared geneUNC80 Related via 1 shared gene including UNC80. Autism 1 shared geneUNC80 Related via 1 shared gene including UNC80.