Intellectual developmental disorder peripheral neuropathy

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
619844C5676969MONDO:0859240
NUDT2 Causal
27431290 30059600 31607746 32552793 33058507
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DISABILITY-PERIPHERAL NEUROPATHY-CORPUS CALLOSUM ABNORMALITIES SYNDROME DUE TO NUDIX HYDROLASE 2 DEFICIENCY
694937
NUDT2 Unknown
38141063
Orphanet