FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Carey-Fineman-Ziter syndrome 1 ID (Ontology) DOID:0061115 (Human Disease)
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.
Also Known As "CFZS1"
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 Genes
 Carey-Fineman-Ziter syndrome 1       1
 for disease ribbon | Carey-Fineman-Ziter syndrome 1       1
 model of | Carey-Fineman-Ziter syndrome 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
syndrome                          |
 |__Carey-Fineman-Ziter syndrome__|
                                  Carey-Fineman-Ziter syndrome 1  1 rec.
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Is a autosomal recessive disease
Carey-Fineman-Ziter syndrome
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Synonyms
  • "CFZS1" EXACT OMO:0003012
Secondary IDs
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MIM:254940