A grouping of conditions that share developmental delay with features beyond the brain, each caused by changes in a single gene. Some of the genes here, such as ANKRD17, ASH1L and MYT1L, cause disease when one copy is changed, usually de novo; AFG2A-related disease needs changes in both copies.
Příznaky a projevy
Developmental delay and intellectual disability of varying severity, often with speech delay, low muscle tone and behavioural differences such as autism. Many people also have distinctive facial features, growth differences or seizures. Less often there are eye, skeletal, kidney or other organ differences; the pattern depends on the gene involved.
Co se diagnózou změní
Developmental, educational and therapy support, with assessment for seizures, growth, vision, hearing and other organ features suggested by the specific gene. Genetic counselling depends on the gene: parental testing for de novo dominant changes, and carrier testing for recessive forms.
Analyzované geny
Zahrnuty jsou také specifické formy
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
- X-linked syndromic complex neurodevelopmental disorder
