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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Inherited Reproductive Disorders46 XY differences of sex development, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Kallmann syndrome, Male Urogenital Diseases, Menstruation Disturbances, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Puberty, Delayed, Urogenital Abnormalities, Urogenital Diseases, amenorrhea, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, infertility disorder, precocious pubertyRecruitingNot stated2026-07-28NCT01500447
Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing46 XY differences of sex development, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Kallmann syndrome, Male Urogenital Diseases, Urogenital Abnormalities, Urogenital Diseases, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, hypogonadotropic hypogonadismActive, not recruitingNot stated2025-02-04NCT04733274
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
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate46 XY differences of sex development, Adnexal Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cysts, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Jaw Abnormalities, Jaw Diseases, Kallmann syndrome, Male Urogenital Diseases, Maxillofacial Abnormalities, Mouth Abnormalities, Musculoskeletal Abnormalities, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Stomatognathic Diseases, Stomatognathic System Abnormalities, Urogenital Abnormalities, Urogenital Diseases, anosmia, cleft lip, cleft lip/palate, cleft palate, cryptorchidism, disorder of sexual differentiation, endocrine system disorder, female reproductive system disorder, gonadal disorder, hereditary disease, hypogonadism, hypogonadotropic hypogonadism, infertility disorder, lip disorder, male reproductive system disorder, mouth disorder, musculoskeletal system disorder, neoplasm, nervous system disorder, ovarian cyst, ovarian disorder, penile agenesis, polycystic ovary syndrome, precocious puberty, testicular disorderRecruitingNot stated2022-06-21NCT01601171