Neurodegeneration, childhood-onset, with cerebellar atrophy

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Subtype of: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement di... · Neurodegeneration
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
neurodegeneration, childhood-onset, with cerebellar atrophy
EFO_0010256MONDO_0012984
AGTPBP1 Causal
28600779 30420557 30976113 31102495
ClinGen, Open Targets —
ABHD12 Unknown
29571850 20797687
Open Targets
All2 Causal1 Unknown1
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Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Decreased nerve conduction velocities 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Hyporeflexia 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Distal sensory loss 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Hereditary ataxia 1 shared geneABHD12 Related via 1 shared gene including ABHD12.