Developmental disorder with hypotonia, epilepsy, and cerebral/cerebellar atrophy

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Subtype of: Developmental disorder
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
developmental disorder with hypotonia, epilepsy, and cerebral/cerebellar atrophy
MONDO_0060758
CACNA1G Unknown
29878067 31836334 32736238 32878331 33057194 33098379 39674904
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Developmental disorder with hypotonia, epilepsy, and cerebral/cerebellar atrophy.
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Spinocerebellar ataxia type 42 1 shared geneCACNA1G Related via 1 shared gene including CACNA1G. Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 shared geneCACNA1G Related via 1 shared gene including CACNA1G. Autosomal recessive mental retardation 1 shared geneCACNA1G Related via 1 shared gene including CACNA1G. Spastic ataxia 1 shared geneCACNA1G Related via 1 shared gene including CACNA1G. Spinocerebellar ataxia 1 shared geneCACNA1G Related via 1 shared gene including CACNA1G.