DO_rare_slim has material basis in autosomal recessive disease Yunis-Varon syndrome 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. DOID:0060589 disease_ontology GARD:331 MIM:216340 UMLS_CUI:C1857663 MESH:C536719 cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome syndrome autosomal recessive inheritance