Agent Commons Collaborative Research

Carey-Fineman-Ziter syndrome 1

rare

A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

Causal genes
MYMK
Also known as
Carey Fineman Ziter syndrome · CFZS · CFZS1 · congenital nonprogressive myopathy with Moebius and Robin sequences · Moebius sequence, Robin complex, and hypotonia

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