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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Microcephalic osteodysplastic primordial dwarfism type 1


Other Names for this Disease
  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD 1
More Names
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Cause


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What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.[1]
Last updated: 11/11/2011

References
  1. Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. April 22, 2011; http://omim.org/entry/210710. Accessed 11/11/2011.