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Genetic Disorders
Directory > Health > Conditions and Diseases > Genetic Disorders

Aarskog Syndrome (6) Hemihypertrophy (3) Propionic Acidemia (4)
Aase Syndrome (3) Hemochromatosis (19) Proteus Syndrome (3)
Ablepharon-Macrostomia Syndrome (4) Hereditary Angioedema (5) Prune Belly Syndrome (3)
Alagille Syndrome (7) Hereditary Spastic Paraplegia (6) Pseudoxanthoma Elasticum (3)
Alkaptonuria (5) Incontinentia Pigmenti (7) Robinow Syndrome (4)
Alpha-1 Antitrypsin Deficiency (9) Joubert Syndrome (5) Russell Silver Syndrome (2)
Batten (7) Klinefelter Syndrome (12) Sanfilippo Syndrome (6)
Beckwith-Wiedemann Syndrome (9) Laurence-Moon Syndrome (4) Schizencephaly (4)
Coffin Lowry Syndrome (5) Lesch-Nyhan Syndrome (2) Shwachman Syndrome (7)
Costello Syndrome (2) Lowe Syndrome (4) Smith-Magenis Syndrome (4)
Cowden Syndrome (3) Machado-Joseph (7) Smith Lemli Opitz Syndrome (3)
Craniofrontonasal Dysplasia (3) Mannosidosis (2) Soto's Syndrome (5)
Crigler-Najjar Syndrome (5) McArdle's (2) Sturge-Weber Syndrome (4)
Cystic Fibrosis (165) Meckel-Gruber Syndrome (4) Thrombocytopenia Absent Radius Syndrome (4)
DiGeorge Syndrome (4) Mobius Syndrome (5) Turner Syndrome (12)
Down Syndrome (90) Nail Patella Syndrome (7) Urea Cycle (2)
Dubowitz Syndrome (4) Noonan Syndrome (9) Usher Syndrome (2)
Ectodermal Dysplasia (6) Opitz Syndrome (6) Velo-Cardio-Facial Syndrome (5)
Familial Hypercholesterolemia (2) Organizations (7) Von Hippel-Lindau (6)
Fatty Oxidation (4) Pallister-Hall Syndrome (4) Waardenburg Syndrome (4)
Floating-Harbor Syndrome (4) Pallister Killian Mosaic Syndrome (3) Weaver Syndrome (3)
Fragile X Syndrome (14) Personal Pages (11) Williams Syndrome (10)
Glutaricaciduria (4) Popliteal Pterygium Syndrome (2) Xeroderma Pigmentosum (8)
Hailey-Hailey Disease (1) Prader-Willi Syndrome (10) Zellweger Syndrome (5)

Web Sitesi

IMMD Institute of Medical Molecular Diagnostics Ltd.
The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary
breast cancer, various cardiovascular diseases or diseases with onset in childhood.

Reviews Rating: Not yet Rated Whois Check

Blepharophimosis Ptosis Epicanthus Inversus Syndrome
The BPEI (BPES) Family Network encourages people to get in touch with each other, share information
and ask questions. Explanation of this rare eye disorder.

Reviews Rating: Not yet Rated Whois Check

Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about
each disease listed.

Reviews Rating: Not yet Rated Whois Check

Washington University in St Louis
Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal
Periodontis. Interested families may participate in a registry dedicated to learning about the
natural history of these three conditions.

Reviews Rating: Not yet Rated Whois Check

Genetic Disorders: The Links to Diet
Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to
disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.

Reviews Rating: Not yet Rated Whois Check

XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia,
X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

Reviews Rating: Not yet Rated Whois Check

Genetic and Rare Conditions Site
Lay advocacy groups, support groups, information on genetic conditions and birth defects for
professionals, educators and individuals. Disorders from A-Z.

Reviews Rating: Not yet Rated Whois Check

Gene Clinics
Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders.
Covers genetic testing in diagnosis and management and genetic counseling of patients.

Reviews Rating: Not yet Rated Whois Check

Primary Ciliary Dyskinesia
Information on a rare congenital disease.
Reviews Rating: Not yet Rated Whois Check

The UDGD Spot
Resources and information for families of children with genetic disabilities or syndromes that are
still awaiting a diagnosis.

Reviews Rating: Not yet Rated Whois Check

Dr. Greene's HouseCalls
A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family
experience with this rare disease.

Reviews Rating: Not yet Rated Whois Check


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