Arthrogryposis
Gene: MYMK
Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.
Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert listCreated: 11 Jul 2020, 8:37 a.m. | Last Modified: 2 Nov 2020, 8:21 p.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome 254940
Publications
Tag founder tag was added to gene: MYMK.
Gene: mymk has been classified as Green List (High Evidence).
Gene: mymk has been classified as Green List (High Evidence).
gene: MYMK was added gene: MYMK was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940 Review for gene: MYMK was set to GREEN