Clinical Research Directory

Inclusion Criteria: 1. Parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study. 2. Males and females of any age are eligible for this study 3. Suspected or confirmed diagnosis of SLC13A5 deficiency with genetic variants in both SLC13A5 alleles and consistent clinical characteristics. Variants of uncertain significance in one or both alleles are acceptable if deemed good candidates by participant's primary geneticist or neurologist and study personnel. 4. Participant and caregiver must be willing to provide clinical data and participate in standardized assessments. Exclusion Criteria: 1\. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency. \-