2q23 1 microdeletion syndrome

2q37 deletion syndrome. 2001 proposed developmental delay coarse facial appearance hirsutism and hypoplastic or absent fifth distal phalanges as minimal diagnostic criteria for the diagnosis of Coffin-Siris syndrome.

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3q29 microdeletion syndrome.

. 3-methylglutaconyl-CoA hydratase deficiency AUH defect 3M syndrome. 2q231 microdeletion syndrome. 3-methylcrotonyl-CoA carboxylase deficiency. De même cest aussi lun des acteurs qui doit permettre de.

3-beta-hydroxysteroid dehydrogenase deficiency. 3-alpha hydroxyacyl-CoA dehydrogenase deficiency. Senior 1971 described 6 unrelated children who had broad nose with prominent nares and mild mental retardation in addition to short stature. Maladies Rares Info Services est mentionné dans le Plan comme lun des opérateurs susceptibles dinciter à la prise en charge de toutes les personnes suspectes ou atteintes de maladies rares dans les réseaux des centres de référence maladies rares afin de réduire limpasse et lerrance diagnostiques action 11.

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