" /> Dysosteosclerosis - CISMeF





Preferred Label : Dysosteosclerosis;

Type : Phenotype or locus, molecular basis unknown;

Description : Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by Elcioglu et al., 2002).;

Inheritance : Autosomal recessive;

Prefixed ID : %224300;

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25/07/2025


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