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| Arthrogryposis v0.242 | MYMK | Zornitza Stark Tag founder tag was added to gene: MYMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.242 | MYMK |
Zornitza Stark changed review comment from: Distal contractures are part of the phenotype of this muscle disorder. Sources: Expert list; to: 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 list |
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| Arthrogryposis v0.151 | MYMK | Zornitza Stark Marked gene: MYMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.151 | MYMK | Zornitza Stark Gene: mymk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.151 | MYMK | Zornitza Stark Classified gene: MYMK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.151 | MYMK | Zornitza Stark Gene: mymk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.150 | MYMK |
Zornitza Stark 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 Added comment: Distal contractures are part of the phenotype of this muscle disorder. Sources: Expert list |
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