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Browse result for Microcephalic osteodysplastic primordial dwarfism
※ introduction 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.
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).
Intelligence is reported by usually within low-normal or mild intellectual disability range. Some have average levels of intelligence, but may masked by specific learning disability.
Reference
Wiki: Microcephalic osteodysplastic primordial dwarfism
Reference
Wiki: Microcephalic osteodysplastic primordial dwarfism
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03475 | O95613 | 5116 | PCNT | Pericentrin | Homo sapiens |
