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Human Disease

Carey-Fineman-Ziter syndrome 1

Term ID
DOID:0061115
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. https://pubmed.ncbi.nlm.nih.gov/27232676/
References
Ontology
Human Disease   ( DOID:0061115 )
Relationships
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Genes Involved
Zebrafish Models