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microcephaly primordial dwarfism
- ... MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning ...
- Microcephaly (Mayo Foundation for Medical Education and Research)Brain Malformations/Specifics ... Brain Malformations ... Mayo Foundation for Medical Education and Research
- ... stature. It is considered a form of primordial dwarfism because the growth ... small head (microcephaly). Despite a small head size, most people with ...
- About Microcephalic Osteodysplastic Primordial Dwarfism Type II (Nemours Foundation)Dwarfism/Specifics ... Dwarfism ... Nemours Foundation ... A class of disorders where growth delay occurs at the earliest stages of development.
- ... that likely occur during early embryonic development. CSS Dwarfism-onychodysplasia Fifth digit syndrome Mental retardation with hypoplastic ...
- ... show signs and symptoms of the condition. CS Dwarfism-retinal atrophy-deafness syndrome Genetic Testing Registry: Cockayne ...
- ... have been found to cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII). These mutations result in the ... Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. ...
- ... 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- ...