Autoszomális domináns
Caused by a change in one copy of ZBTB20, a transcription factor important in brain development and metabolism. Where parents were tested, the changes arose de novo.
Tünetek és jelek
A large head, low muscle tone, developmental delay and intellectual disability, often with autism or other behavioural differences. Distinctive facial features and hearing loss are common. Less often, in later life, there is calcification of the ear cartilage, wasting of the distal muscles and diabetes.
Mit változtat a diagnózis
Developmental and educational support, with hearing assessment, and monitoring for diabetes and thyroid problems. Where parents were tested, the changes arose de novo, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
intellectual disability-cataracts-calcified pinnae-myopathy syndrome; PRIMS
