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GTR Home > Conditions/Phenotypes > Osteoporosis, childhood- or juvenile-onset, with developmental delay

Osteoporosis, childhood- or juvenile-onset, with developmental delay

Summary

Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients (Marom et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MCPH19, OPDD, beta'-COP, COPB2
    Summary: COPI coat complex subunit beta 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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