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Genetic Disorders

Frequently Asked Questions & Answers

Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Acoustic Neuroma
Adie Syndrome
Adrenal Hyperplasia
Adrenoleukodystrophy
Aicardi Syndrome
Alagille Syndrome
Albinism
Alkaptonuria
Alopecia Areata
Alpha- Antitrypsin Deficiency
Alström Syndrome
Angelman Syndrome
Apert Syndrome
Arthrogryposis
Ataxia
Autism Spectrum
Bardet-Biedl Syndrome
Barth Syndrome
Batten
Beckwith-Wiedemann Syndrome
Canavan
Celiac Disease
Cerebrocostomandibular Syndrome
Charcot-Marie-Tooth Disease
Cleidocranial Dysplasia
Cockayne Syndrome
Coffin Lowry Syndrome
Congenital Cardiovascular Disorders
Congenital Heart Disease
Congenital Musculoskeletal Disorders
Congenital Neurological Disorders
Congenital Pain Insensitivity
Congenital Urological Disorders
Cornelia De Lange Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Cri du Chat Syndrome
Crigler-Najjar Syndrome
Cystic Fibrosis
Cystinosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Dwarfism
Ectodermal Dysplasia
Ehlers-Danlos Syndrome
Factor V Leiden
Familial Dysautonomia
Familial Erythromelalgia
Familial Hypercholesterolemia
Fanconi Anemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Friedreich Ataxia
Galactosemia
Gaucher's
Gene Therapy
Genetic Testing and Counseling
Genetics Education
Glutaricaciduria
Glycogen Storage Disease Type II
Hailey-Hailey Disease
Hallervorden-Spatz Syndrome
Hemihypertrophy
Hemochromatosis
Hemophilia
Hereditary Angioedema
Hereditary Spastic Paraplegia
Homocystinuria
Human Genetics
Huntington's Disease
Hydrocephalus
Incontinentia Pigmenti
Jacobsen Syndrome
Joubert Syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome
Langer-Giedion Syndrome
Laurence-Moon Syndrome
Leigh's
Lesch-Nyhan Syndrome
Leukodystrophy
Lissencephaly
Lowe Syndrome
Lymphedema
Machado-Joseph
Mannosidosis
Marfan Syndrome
McArdle's
Meckel-Gruber Syndrome
Menkes' Syndrome
Mobius Syndrome
Multiple Hereditary Exostoses
Muscular Dystrophies
Myotonic Dystrophy
Nail Patella Syndrome
Narcolepsy
Neurofibromatosis
Niemann-Pick
Noonan Syndrome
Opitz Syndrome
Osteogenesis Imperfecta
Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome
Phenylketonuria
Polycystic Kidney
Popliteal Pterygium Syndrome
Porphyrias
Prader-Willi Syndrome
Progeria
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Refsum's
Retinoblastoma
Rett's Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Sickle Cell
Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome
Soto's Syndrome
Spinal Muscular Atrophy
Stickler's Syndrome
Sturge-Weber Syndrome
Tay-Sachs
Thalassemia
Thrombocytopenia Absent Radius Syndrome
Tourette Syndrome
Treacher Collins Syndrome
Tuberous Sclerosis
Turner Syndrome
Tyrosinemia
Urea Cycle
Usher Syndrome
VATER Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
WAGR Syndrome
Weaver Syndrome
Williams Syndrome
Wilson's Disease
Xeroderma Pigmentosum
Zellweger Syndrome
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