Yunis-Varon syndrome

Term ID

DOID:0060589

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

• GARD:331
• MESH:C536719
• OMIM:216340
• UMLS_CUI:C1857663

Ontology

Human Disease   ( DOID:0060589 )