Developmental Delay with Variable Intellectual Disability and Dysmorphic Facies
Autoszomális domináns
Caused by loss of one working copy of JARID2, a regulator of the Polycomb gene-silencing complex. It results from small changes within the gene or deletions removing it, which may arise de novo or be inherited.
Tünetek és jelek
Developmental delay and intellectual disability, with variable severity. Behavioural differences, including autism, are part of the condition, along with distinctive facial features. Palate abnormalities and heart defects have also been reported.
Mit változtat a diagnózis
Developmental, speech and educational support with behavioural assessment. Because the change may be new or inherited from a mildly affected parent, genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
