ADCY6

adenylate cyclase 6
OMIM: 600294, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ADCY6 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM:616287
  • Lethal congenital contracture syndrome 8, MONDO:0014570