PhenomeGene — Human Disease Gene Website SeriesLYRM7

Clinical Characteristics

Children with this condition may:

•    Have episodes of sickness with tiredness and high acid levels in the blood,
•    Show signs of brain problems like vision loss, weakness, or difficulty speaking or moving,
•    Sometimes experience stroke-like events,
•    Develop more slowly or lose some skills,
•    Experience vision problems due to nerve damage.

Doctors have also seen:

•    Cyst-like changes in the brain in some children,
•    Vision problems that started in adulthood in others.

This condition can look different from person to person, and doctors are still learning about all the ways it can affect people.