Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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Subtype of: Perisylvian polymicrogyria · Polymicrogyria
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MONDO_0014679
PI4KA Unknown
34415310 25855803 34415322
Open Targets
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.
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Spastic paraplegia 84, autosomal recessive 1 shared genePI4KA Related via 1 shared gene including PI4KA. Bilateral perisylvian polymicrogyria 1 shared genePI4KA Related via 1 shared gene including PI4KA. Combined immunodeficiency, enteropathy spectrum 1 shared genePI4KA Related via 1 shared gene including PI4KA. Gastrointestinal defects and immunodeficiency syndrome 1 shared genePI4KA Related via 1 shared gene including PI4KA. Heparin cofactor 2 deficiency 1 shared genePI4KA Related via 1 shared gene including PI4KA.