" /> Osteopetrosis, autosomal recessive 6 - CISMeF





Preferred Label : Osteopetrosis, autosomal recessive 6;

Symbol : OPTB6;

CISMeF acronym : OPTB6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, autosomal recessive, intermediate form;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pleckstrin homology domain-containing protein, family M, member 1 gene (PLEKHM1, 611466.0001);

Prefixed ID : #611497;

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29/07/2025


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