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

• MIM:254940

Ontology

Human Disease   ( DOID:0061115 )