Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

Inclusion Criteria: * Patient group: * Patients who have RAI1-related disorder confirmed by genetic testing including karyotyping, fluorescence in situ hybridization (FISH), array Comparative Genomic Hybridization (aCGH), single nucleotide polymorphism (SNP) array and next generation sequencing performed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. * Grossly intact hearing and vision as per parent report * Age between 1 month to 60 years old * Able to complete the study (i.e., travel to site and spend 1 day in Houston) * Caregiver with spoken and written English at a level adequate to give informed assent (consent on behalf of the patient) for participation. Control group: * Healthy family member, not having a RA1-related disorder * Age between 5 years to 80 years old Exclusion Criteria: * Patient group: * Contraindication for blood draw or skin biopsy as determined by the enrolling provider (e.g., bleeding diathesis) * Patients who are at high risk including ventilator/tracheostomy dependent, poorly controlled endocrine disorders, and unstable seizures (will be assessed by neurologist), end-stage renal disease. * Participation in any investigational treatment study Control group: • Patients who have RAI1-related disorder confirmed by genetic testing.