Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioural Abnormalities
Autoszomális domináns
Caused by a change in one copy of POLR2A, which encodes the largest subunit of RNA polymerase II, the enzyme that reads most genes. Most reported changes arise de novo.
Tünetek és jelek
Marked low muscle tone from infancy, with developmental delay. Severity varies from mild to severe. Epilepsy, ataxia, joint hypermobility, short stature and congenital heart abnormalities have also been reported.
Mit változtat a diagnózis
Physiotherapy, feeding, speech and educational support, with neurological review as needed. Most cases arise de novo, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
NEDHIB; POLR2A-associated neurodevelopmental disability; POLR2A-related disorder
