Table 2.

Comparison of Phenotypes of Individuals with Yunis-Varón Syndrome and Fig4-Null Mice

Feature	Individuals with Yunis-Varón Syndrome	Fig4-Null Mice
Severe CNS disease with extensive vacuolation	+	+
Postnatal growth deficiency	+	+
Hair/fur	sparse, light-colored	pale
Digital hypoplasia	+	−
Calvarial dysostosis	+	−
Clavicular defects	+	−
Pelvic dysplasia	+	−
Abnormal bone ossification or maintenance	+ (narrow diaphyses and fracture susceptibility)	+ (low trabecular volume and thin cortices)
Dental anomalies	+ (hypodontia, impaction, premature loss)	relative overgrowth of incisors or altered craniofacial morphology

Plus signs (+) and minus signs (−) indicate presence and absence, respectively, of trait.