autosomal recessive osteopetrosis 8

info · Genetic

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.

Signs and symptoms

Osteopetrosis
Optic atrophy
Visual loss
Anemia
Hepatomegaly
Splenomegaly
Feeding difficulties
Frontal bossing
Macrocephaly
Thrombocytopenia

Also known as: OPTB8