Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures
Autoszomális recesszív
Caused by changes in both copies of BRAT1, a gene involved in RNA processing and brain development. The clinical picture varies between people.
Tünetek és jelek
Developmental delay and speech delay, with cerebellar atrophy on MRI. Some people have seizures.
Mit változtat a diagnózis
Developmental, physiotherapy and speech support, with seizure treatment where needed. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Vizsgált gének
Más néven
NEDCAS
