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Summary Literature (0)
DOID:0060589 - Yunis-Varon syndrome


Disease Ontology 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.

Synonyms: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, cleidocranial dysplasia-micrognathia-absent thumbs syndrome,

Xenbase Genes : vac14, fig4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008995 - Yunis-Varon syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)