microcephalic osteodysplastic primordial dwarfism 2

Home » Classic Medicine » Syndromes » microcephalic osteodysplastic primordial dwarfism 2
microcephalic osteodysplastic primordial dwarfism 22016-11-27T05:11:01+00:00

microcephalic osteodysplastic primordial dwarfism 2 

GENETICS

An über rare often autosomal recessive condition (OMIM:210720) characterised by intrauterine growth retardation, severe but proportionate short stature (average height 100 cm), and microcephaly (brain size comparable to that of a 3-month-old infant), with near-normal intelligence.

Molecular pathology Defects of PCNT, which encodes pericentrin, a protein involved in establishing microtubule arrays in mitosis and meiosis, cause microcephalic osteodysplastic primordial dwarfism 2. 

Synonyms MOPD2, osteodysplastic primordial dwarfism type 2 

References http://www.uniprot.org/uniprot/O95613

http://www.omim.org/entry/210720

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.