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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, velocardiofacial syndromeRecruitingPhase 42026-03-18NCT00768820
GROWing Up With Rare GENEtic Syndromes22q11.2 deletion syndrome, 46 XY differences of sex development, 48,XXYY syndrome, Abnormalities, Multiple, Allan-Herndon-Dudley syndrome, Aortic Stenosis, Supravalvular, Bardet-Biedl syndrome, Blepharophimosis syndrome Ohdo type, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, De Lange Syndrome, Deaf-Blind Disorders, Deafness, DiGeorge syndrome, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Jacobsen Distal 11q Deletion Syndrome, Kallmann syndrome, Klinefelter syndrome, Limb Deformities, Congenital, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rett syndrome, Saethre-Chotzen syndrome, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, adrenal gland disorder, adrenogenital syndrome, aortic valve disorder, aortic valve stenosis, blepharophimosis - intellectual disability syndrome, Ohdo type, blindness (disorder), blood platelet disease, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, coloboma, congenital adrenal hyperplasia, congenital heart disease, connective tissue disorder, craniosynostosis, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, gonadal disorder, gonadal dysgenesis, hamartoma, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, hypothalamic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, non-acquired combined pituitary hormone deficiency, nutritional disorder, obesity disorder, otorhinolaryngologic disease, overnutrition, parathyroid gland disorder, retinitis pigmentosa, sex chromosome disorder of sex development, steroid inherited metabolic disorder, syndactyly, synostosis, tetrasomy X, thrombocytopenia, tuberous sclerosis, velocardiofacial syndrome, vision disorderRecruitingNot stated2023-09-06NCT04463316