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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)

General

dwarfism (nanism)

Database Correlations

OMIM 210720

References

  1. UniProt :accession O95613
  2. OMIM :accession 210720