740 top medical experts on Inborn Genetic Diseases across 45 countries and 38 U.S. states, including 678 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Inborn Genetic Diseases: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): and Neonatal Diseases and Abnormalities Hereditary Congenital (4) and Narrower Categories: Alagille Syndrome (472), Ataxia Telangiectasia (1,052), Autoimmune Lymphoproliferative Syndrome (510), Brugada Syndrome (1,107), CADASIL (886), CHARGE Syndrome (549), Camurati-Engelmann Syndrome (108), Cherubism (189), Chromosome Disorders (1,195), Ciliopathies (556), Congenital Adrenal Hyperplasia (794), Congenital Hemolytic Anemia (390), Congenital Hypoplastic Anemia (8), Congenital Myasthenic Syndromes (619), Congenital Pain Insensitivity (192), Costello Syndrome (334), Cystic Fibrosis (2,766), Donohue Syndrome (103), Dwarfism (611), Familial Dysalbuminemic Hyperthyroxinemia (56), Familial Hypertrophic Cardiomyopathy (609), Familial Multiple Lipomatosis (5), Frasier Syndrome (51), GATA2 Deficiency (152), Genetic Skin Diseases (25), Graves Ophthalmopathy (815), Hajdu-Cheney Syndrome (178), Hemoglobinopathies (452), Hereditary Autoinflammatory Diseases (977), Hereditary Eye Diseases (476), Hereditary Neoplastic Syndromes (1,050), Hyper-IgM Immunodeficiency Syndrome (338), Inborn Errors Metabolism (884), Inborn Errors Renal Tubular Transport (445), Inherited Blood Coagulation Disorders (594), Kallmann Syndrome (462), Kartagener Syndrome (853), Lennox Gastaut Syndrome (324), Loeys-Dietz Syndrome (626), Marfan Syndrome (1,061), Muscular Dystrophies (833), Nail-Patella Syndrome (169), Nervous System Heredodegenerative Disorders (409), Oculocerebrorenal Syndrome (216), Orofaciodigital Syndromes (327), Osteochondrodysplasias (807), Osteogenesis Imperfecta (720), Pelger-Huet Anomaly (77), Primary Hypertrophic Osteoarthropathy (313), Primary Immunodeficiency Diseases (822), Pycnodysostosis (153), Werner Syndrome (76), X-Linked Genetic Diseases (1,280), Y-Linked Genetic Diseases (50), Yellow Nail Syndrome (145), alpha 1-Antitrypsin Deficiency (485).
  4. Clinical Trials ClinicalTrials.gov : at least 165 including 11 Active, 64 Completed, 50 Recruiting
  5. Synonyms: Hereditary Diseases


  

        

                    


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