A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.
Okubo Y, Endo W, Inui T, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Sato R, Arai-Ichinoi N, Kikuchi A, Kure S, et al. Brain Dev. 2018 Apr; 40(4):334-338. Epub 2017 Dec 16.