Autoszomális recesszív
Caused by changes that stop both copies of the DIAPH1 gene from working. DIAPH1 helps organise the cell's internal scaffolding, which has an essential role in brain development.
Tünetek és jelek
Small head size, seizures beginning in infancy, and visual impairment caused by the brain rather than the eyes (cortical blindness). Developmental delay is typical. Less often there are recurrent respiratory infections, bronchiectasis or immune problems.
Mit változtat a diagnózis
Seizure treatment, vision and developmental support, and monitoring of growth. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
Más néven
SCBMS; seizures, cortical blindness, microcephaly syndrome
