header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0060589
Term Name: Yunis-Varon syndrome Search Ontology:
Synonyms:
  • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
  • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Definition: A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/23623387
References:
Ontology: Human Disease   (DOID:0060589)
OTHER Yunis-Varon syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FIG4 Yunis-Varon syndrome 216340
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None