KEGG   VARIANT: 23154v1
Entry
23154v1                      Variant                               
Name
NCDN mutation
Type
Loss of function
Gene
NCDN  neurochondrin [KO:K27819]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608458
Network
nt06544  Neuroactive ligand signaling
Disease
H02892  Neurodevelopmental disorder with infantile epileptic spasms
Reference
PMID:33711248
  Authors
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
  Title
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
  Journal
Am J Hum Genet 108:739-748 (2021)
DOI:10.1016/j.ajhg.2021.02.015
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