autosomal recessive osteopetrosis 7

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.

Signs and symptoms

• Osteopetrosis
• Progressive visual loss
• Decreased circulating IgG concentration
• Hepatomegaly
• Motor delay
• Abnormal trabecular bone morphology
• Nystagmus
• Anemia
• Recurrent pneumonia
• Decreased circulating IgM concentration

Also known as: OPTB7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome