Autozomálně recesivní
Caused by changes in both copies of the DPH1 gene, which is needed to make diphthamide, a modification of the protein-synthesis factor eEF2. Reduced diphthamide production is thought to affect protein synthesis during development.
Příznaky a projevy
Developmental delay and intellectual disability, short stature, sparse scalp hair and distinctive facial features. Less often there are congenital heart defects, or minor skeletal and ectodermal (dental and nail) features.
Co se diagnózou změní
Developmental and educational support, growth monitoring and assessment of other organs as features suggest. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing for relatives can be offered.
Analyzované geny
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- developmental delay with short stature, dysmorphic facial features, and sparse hair 1
- developmental delay with short stature, dysmorphic facial features, and sparse hair 2
