Studies of Children With Metabolic and Other Genetic Disorders
Genetic Disorder, Metabolic Disease
About this trial
This is an observational trial for Genetic Disorder focused on measuring Genetics, Metabolic, Dysmorphology, Training, DNA, DNA Testing, Dysmorphic Syndromes, Developmental Delay, Genetic Counseling, Molecular Genetics
Eligibility Criteria
INCLUSION CRITERIA: Patients with suspected or diagnosed genetic and/or metabolic conditions of all ages are eligible for this protocol. In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of sporadic or unknown etiology will qualify for this protocol. The actual selection of patients most appropriate for research and clinical training needs will be made by protocol investigators. EXCLUSION CRITERIA: Patients that their care requires resources not available at the NIH Clinical Center will not be eligible for the in-patient part of this study. There are no exclusions for the out-patient or DNA collection part of the study.
Sites / Locations
- National Institutes of Health Clinical Center, 9000 Rockville Pike