postaxial acrofacial dysostosis | ClinicalTrials HQ

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Trial	Conditions	Status	Phase	Updated	More info	NCT ID
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders	Arts syndrome, Blood Protein Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Hemolysis, Lesch-Nyhan syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Oroticaciduria 1, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Sneddon syndrome, X-linked disease, adenine phosphoribosyltransferase deficiency, adenosine monophosphate deaminase deficiency, adenylosuccinate lyase deficiency, anemia, beta-ureidopropionase deficiency, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebrovascular disorder, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, dysgammaglobulinemia, hematologic disorder, hereditary disease, hereditary motor and sensory neuropathy, hyper-IgM syndrome, immune system disorder, inborn disorder of purine or pyrimidine metabolism, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, inosine triphosphatase deficiency, intellectual disability, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, pontocerebellar hypoplasia, postaxial acrofacial dysostosis, purine nucleoside phosphorylase deficiency, skin disorder, skin vascular disease, vascular disorder, xanthinuria type I	Recruiting	Not stated	2026-08-19		NCT06092346