Achondroplasia
Achondroplasia, Achondroplastic dwarf, Achondroplastic dwarfism, Chondrodystrophia fetalis, Congenital osteosclerosis, Osteosclerosis congenita, Achondroplastic short stature
Ataxia
Bloom
Down
2017 | Brazil | Bertapelli et al.
2015 - US - Zemel et al.
2012 - Egypt - Afifi et al.
Afifi HH et al American Journal of Medical Genetics Part A. 2012;158A(11):2647-55
2010 - Netherlands - Van Gameren Oosterom et al.
Van-Gameren-Oosterom et al. Netherlands
2002 - Sweden - Myrelid et al.
Hypochondroplasia
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Afifi HH et al. American Journal of Medical Genetics Part A. 2012;158A(11):2647-55