Neurodevelopmental Disorder with Microcephaly, Epilepsy and Brain Atrophy
Autozomálně recesivní
This condition is caused by changes in both copies of TRAPPC6B, part of the TRAPP complex that moves proteins between compartments inside cells, a process important for developing nerve cells.
Příznaky a projevy
A small head and epilepsy. Intellectual disability with absent expressive language is typical. Brain scans show reduced volume of the cortex, cerebellum and corpus callosum. Autistic features and stereotypies have been reported, and dystonia or spasticity occur in some.
Co se diagnózou změní
Seizure treatment and neurological follow-up, together with developmental, educational and behavioural support. Genetic counselling is recommended; parents are usually carriers, and carrier testing can be offered to relatives.
Analyzované geny
Známé také jako
NEDMEBA
