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Results 1 - 8 of 8 for Microcephalic primordial dwarfism
  1. Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) ...
  2. ... largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb ... syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012 Nov; ...
  3. ... the PCNT gene have been found to cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII). These mutations result in the ... gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. ...
  4. ... largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb ...
  5. Saul-Wilson syndrome is characterized by short stature (dwarfism) and other skeletal abnormalities. The growth problems in Saul-Wilson syndrome are called ...
  6. ... that likely occur during early embryonic development. CSS Dwarfism-onychodysplasia Fifth digit syndrome Mental retardation with hypoplastic ...
  7. ... show signs and symptoms of the condition. CS Dwarfism-retinal atrophy-deafness syndrome Genetic Testing Registry: Cockayne ...
  8. ... Wilson syndrome, a condition characterized by short stature (dwarfism) and other skeletal abnormalities. The mutations change single ... disability, seizures, and an unusually small head size (microcephaly). Mutations in the COG4 gene that cause COG4- ...