| Microcephalic osteodysplastic primordial dwarfism type II | |
|---|---|
| Other names | Majewski osteodysplastic primordial dwarfism type II |
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| Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics  |
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. [1]
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MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population.
It is associated with the protein pericentrin (PCNT). [2]
Intelligence is reported by usually within low-normal or mild intellectual disability range. [3] Some have average levels of intelligence, but may masked by specific learning disability.
