Conditions / Genetic
autosomal recessive osteopetrosis 4
info · Genetic
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
Signs and symptoms
- Osteopetrosis
- Increased bone mineral density
- Anemia
- Petechiae
- Thrombocytopenia
- Optic disc pallor
- Facial palsy
- Sclerotic vertebral endplates
- Hepatomegaly
- Visual impairment
Also known as: OPTB4; infantile malignant osteopetrosis 2