All individuals with variants in gene MYH8

9 entries on 1 page. Showing entries 1 - 9.
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00153391 128748 - sample of a fetus with Arthrogryposis multiplex congenita, mother not yet analysed ? ? Germany - - 0 - - arthrogryposis Arthrogryposis multiplex congenita 1 1 Andreas Laner
00291611 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00291612 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291613 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00291614 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 18 Mohammed Faruq
00291615 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00304554 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00380565 WHP64 PubMed: Sun 2018 - F - China - - 0 - - ? Congenital Contractural Arachnodactyly;Distal Arthrogryposis type 7 1 1 LOVD
00412454 Pat3 PubMed: Velmans 2012 - M - - - - 0 - - NDD macrocephaly, OFC Z+2.7; no dolichocephaly; large forehead; epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; finger/toe clinodactyly; no developmental motor delay; developmental speech delay; no developmental regression; no intellectual disability; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; constipation; no gastroesophageal reflux; no vomiting; aphasia, dysphasia; MYH8 variant segregating with trismus-pseudocampto-dactyly in the family, central apnea, brachycephaly 1 1 Johan den Dunnen
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