PhenomeGene — Human Disease Gene Website SeriesMDGA2

Clinical Characteristics

Seizures: usually begin in the first few months of life. Seizures are very difficult to control.

Development:Children with this condition have profound delays in all areas of development. Most are unable to walk independently. Speech does not develop in most children.

Muscle tone:Low muscle tone (hypotonia) from birth is present in all children, making movement and feeding more difficult.

Prognosis: The condition is severe. Some children have died in early childhood. All children require lifelong support from a multidisciplinary care team.