Human genes for Yunis-Varon syndrome
Yunis-Varon syndrome [DOID:0060589]
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: Yunis-Varon syndrome, DOID:0060589, YunisVaron syndrome, Yunis-Varon disease, Yunis-Varon disorder ...