Term Name: | Carey-Fineman-Ziter syndrome 1 |
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Synonyms: | CFZS1 |
Definition: | A Carey-Fineman-Ziter syndrome 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 that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0061115] ( DOID:0061115 ) |