Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with ...1

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Symptoms of Microcephalic osteodysplastic primordial dwarfism type II

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Microcephalic osteodysplastic primordial dwarfism type II

Genetic Changes: Mutations in the PCNT gene cause MOPDII . The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly ...2

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Diagnosis

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Treatments

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Causes

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ microcephalic-osteodysplastic-primordial-dwarfism-type-ii
  2. ibid.
  3. ibid.

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