Conditions / Genetic
autosomal recessive osteopetrosis 5
info · Genetic
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
Signs and symptoms
- Hypochromic microcytic anemia
- Seizure
- Mydriasis
- Cranial hyperostosis
- Proptosis
- Increased total leukocyte count
- Facial palsy
- Hepatomegaly
- Osteopetrosis
- Increased bone mineral density
Also known as: OPTB5; infantile malignant osteopetrosis 3