Majewski osteodysplastic primordial dwarfism type II
Encyclopedia
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is listed as a "rare disease
" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MOPD, or a subtype of MOPD, affects less than 200,000 people in the US population and a form of dwarfism associated with brain and skeletal abnormalities.
It was characterized in 1982.
It is associated with PCNT
.
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MOPD, or a subtype of MOPD, affects less than 200,000 people in the US population and a form of dwarfism associated with brain and skeletal abnormalities.
It was characterized in 1982.
It is associated with PCNT
PCNT
Pericentrin , also known as PCNT, is a protein which in humans is encoded by the PCNT gene.- Function :The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material...
.