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An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.




CFZ syndrome
Congenital non-progressive myopathy with Moebius and Robin sequences
Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence