-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.

Yunis-Varon syndrome (YVS; OMIM 216340) is a rare heterogeneous autosomal recessive disorder with easy recognition of characteristic severe neurological and skeletal abnormalities involving skeletal muscles and cartilages. This cleidocranial dysplasia is characterized by bone and tooth disorders; it also affects the cardiovascular system and tissues from ectoderm with very poor outcomes. Rarely, mutations of the gene, encoding a 50-phosphoinositide phosphatase have been identified as the cause for YVS.