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Browse : By Condition : By Disease Heading : Diseases and Abnormalities at or before Birth : Abnormalities, Multiple


Include trials that are no longer recruiting patients.

14 studies were found.
1.RecruitingImmunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome; Shprintzen syndrome; Chromosome Abnormalities; Abnormalities, Multiple; Conotruncal Cardiac Defects
2.RecruitingPhenotype and Etiology of Pallister-Hall Syndrome
Conditions: Epilepsy; Hamartoma; Multiple Abnormalies; Syndactyly
3.RecruitingClinical and Genetic Studies on Holoprosencephaly
Condition: Holoprosencephaly
4.RecruitingGenetics and Clinical Characteristics of Bardet-Biedl Syndrome
Condition: Bardet-Biedl Syndrome
5.RecruitingPrenatal Screening For Smith-Lemli-Opitz Syndrome
Conditions: Smith-Lemli-Opitz Syndrome; Pregnancy
6.RecruitingTreatment of Self-Injurious Behavior in Individuals with Prader-Willi Syndrome
Conditions: Prader-Willi Syndrome; Self-Injurious Behavior
7.RecruitingVitamin E in Aging Persons With Down Syndrome
Conditions: Down Syndrome; Alzheimer Disease
8.RecruitingStudy of Unrelated Allogeneic Bone Marrow Transplantation in Patients With Benign Congenital Bone Marrow Failure Disorders
Conditions: Graft Versus Host Disease; Neutropenia; Shwachman syndrome; Red-Cell Aplasia, Pure; Osteopetrosis
9.Not yet recruitingStudy of Bile Acids in Patients With Peroxisomal Disorders
Conditions: Infantile Refsum's Disease; Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy
10.RecruitingPhase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
11.RecruitingExamination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Conditions: Cockayne Syndrome; Skin Neoplasm; Xeroderma Pigmentosum
12.RecruitingStudy of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome
13.RecruitingBrain Study of Patients with Frontal Lobe Dementia and Parkinsonian Disorders
Conditions: Alzheimer's Disease; Dementia; Down's Syndrome
14.RecruitingStudy of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder; Mental Retardation; Multiple Abnormalies

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