Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
autosomal recessive osteopetrosis 1
MONDO:0009815
autosomal recessive osteopetrosis 2
MONDO:0009816
autosomal recessive osteopetrosis 5
MONDO:0009817
autosomal recessive osteopetrosis 3
MONDO:0009818
autosomal recessive osteopetrosis 4
MONDO:0012676
autosomal recessive osteopetrosis 7
MONDO:0012859