Neurodevelopmental Disorder with Spasticity, Cataracts and Cerebellar Hypoplasia
Autoszomális recesszív
Caused by changes in both copies of MED27, which encodes a subunit of the Mediator complex that helps switch genes on. Changes have been reported in 11 families.
Tünetek és jelek
Developmental delay and intellectual disability, with spasticity or low muscle tone of the trunk, dystonic movements and cerebellar hypoplasia on brain MRI. Cataracts and seizures have been noted in more severely affected people. Cerebellar atrophy has also been reported.
Mit változtat a diagnózis
Eye assessment and treatment of cataracts when needed, seizure treatment, and developmental, physiotherapy and feeding support. Both parents of an affected child are usually carriers, so each further child has a recurrence risk; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
