ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE We used exome sequencing to identify five different bi-allelic pathogenic ADPRHL2 variants in 12 individuals from 8 families affected by a neurodegenerative disorder manifesting in childhood or adolescence with key clinical features including developmental delay or regression, seizures, ataxia, and axonal (sensori-)motor neuropathy. 30401461 2018