Search Ontology:
Human Disease

Carey-Fineman-Ziter syndrome 2

Term ID
DOID:0061116
Synonyms
  • CFZS2
Definition
A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/39668186/
References
Ontology
Human Disease   ( DOID:0061116 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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