microcephalic osteodysplastic primordial dwarfism

Epidemiology

• rare (type 2)

Genetics

• associated with defects in PCNT (type 2)

Clinical manifestations

• average height of 100 centimeters (type 2)
• brain size comparable to that of a 3-month-old baby (type 2)
• near-normal intelligence (type 2)

More general terms

• dwarfism (nanism)

Database

• OMIM: https://mirror.omim.org/entry/210720