Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia

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Subtype of: Cerebellar hypoplasia · Neurodevelopmental disorder
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
MONDO_0100038
INPP4A Unknown
21937992 25338135 31978615 36653678 36759255 39315527
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia.
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Cerebellar hypoplasia 1 shared geneINPP4A Related via 1 shared gene including INPP4A. Autosomal recessive mental retardation 1 shared geneINPP4A Related via 1 shared gene including INPP4A. Dyskeratosis congenita 1 shared geneINPP4A Related via 1 shared gene including INPP4A. Nystagmus 1 shared geneINPP4A Related via 1 shared gene including INPP4A. Microcephaly 1 shared geneINPP4A Related via 1 shared gene including INPP4A.