autosomal recessive osteopetrosis 6

An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.

Signs and symptoms

• Osteopetrosis
• Cortical sclerosis of the iliac wing
• Dense metaphyseal bands
• Erlenmeyer flask deformity of the femurs

Also known as: OPTB6; autosomal recessive osteopetrosis intermediate form