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 SLC135 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, participate in standardized assessments, and provide biological samples. 5. Willingness to travel to one of the three sites annually is favored, but not required. Exclusion Criteria: 1\. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency. \-