Autoszomális recesszív
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.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- developmental delay with short stature, dysmorphic facial features, and sparse hair 1
- developmental delay with short stature, dysmorphic facial features, and sparse hair 2
