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Genetic Disorders

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Aarskog Syndrome (4)
Aase Syndrome (3)
Ablepharon-Macrostomia Syndrome (4)
Acoustic Neuroma (15)
Adie Syndrome (3)
Adrenal Hyperplasia (6)
Adrenoleukodystrophy (6)
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Alpha-1 Antitrypsin Deficiency (11)
Alstrom Syndrome (3)
Angelman Syndrome (20)
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Floating-Harbor Syndrome (4)
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Klinefelter Syndrome (9)
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Larsen Syndrome (4)
Laurence-Moon Syndrome (3)
Leber's Congenital Amaurosis (9)
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Lesch-Nyhan Syndrome (1)
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Loeys-Dietz Syndrome (5)
Lowe Syndrome (2)
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Lysinuric Protein Intolerance (5)
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Multiple Hereditary Exostoses (6)
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Musculoskeletal (212)
Myotonic Dystrophy (4)
Nail Patella Syndrome (4)
Narcolepsy (18)
Nasu-Hakola Disease (3)
Neurofibromatosis (16)
Neurological (132)

Niemann-Pick (4)
Noonan Syndrome (8)
Opitz Syndrome (4)
Organizations (17)
Osteogenesis Imperfecta (15)
Pallister Killian Mosaic Syndrome (9)
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PEHO Syndrome (5)
Personal Pages (13)
Phenylketonuria (9)
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Popliteal Pterygium Syndrome (1)
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Prader-Willi Syndrome (9)
Progeria (10)
Propionic Acidemia (5)
Proteus Syndrome (5)
Prune Belly Syndrome (2)
Pseudoxanthoma Elasticum (5)
RAPADILINO Syndrome (2)
Refsum's (3)
Retinoblastoma (24)
Retinoschisis (6)
Rett's Syndrome (20)
Robinow Syndrome (4)
Rubinstein-Taybi Syndrome (6)
Russell Silver Syndrome (3)
Sanfilippo Syndrome (7)
Schizencephaly (1)
Shwachman Syndrome (7)
Sickle Cell (19)
Sirenomelia (6)
Smith Lemli Opitz Syndrome (3)
Smith-Magenis Syndrome (3)
Soto's Syndrome (5)
Spinal Muscular Atrophy (16)
Stickler's Syndrome (3)
Sturge-Weber Syndrome (4)
Support Groups (26)
Tay-Sachs (4)
Thalassemia (22)
Thrombocytopenia Absent Radius Syndrome (3)
Tourette Syndrome (60)
Treacher Collins Syndrome (4)
Trichothiodystrophy (9)
Tuberous Sclerosis (11)
Turner Syndrome (13)
Tyrosinemia (2)
Unverricht-Lundborg Disease (3)
Urea Cycle (2)
Urological (29)
Usher Syndrome (2)
VATER Syndrome (18)
Velo-Cardio-Facial Syndrome (5)
Von Hippel-Lindau (4)
Waardenburg Syndrome (2)
WAGR Syndrome (3)
Weaver Syndrome (2)
Williams Syndrome (18)
Wilson's Disease (11)
Wolf-Hirschhorn Syndrome (7)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)

Related Categories:
Health > Conditions and Diseases > Congenital Anomalies (10)
Health > Conditions and Diseases > Rare Disorders (277)

Web Pages

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	Gene Clinics - http://www.geneclinics.org Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
	Genetic and Rare Conditions - http://www.kumc.edu/gec/support/ Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
	Your Genes, Your Health - http://www.ygyh.org The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
	Primary Ciliary Dyskinesia - http://www.p-c-d.org/en/ Information on a rare congenital disease.
	The Center For Jewish Genetics Disorders - http://www.jewishgeneticscenter.org/ A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.

	Genetic Disorders: The Links to Diet - http://www.ctds.info/genetic_disorders.html 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.
	Information on Trisomy 13 - http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
	What malformation did El Greco paint? - http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
	IMMD Institute of Medical Molecular Diagnostics Ltd. - http://www.immd.de/ 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.
	A3243G - http://www.a3243g.com/ Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.

	Blepharophimosis Ptosis Epicanthus Inversus Syndrome - http://freespace.virgin.net/andy.bowles/ 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.
	XLH Network - http://www.xlhnetwork.org Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
	New Scientist: Heroin Addiction Gene Identified and Blocked - http://www.newscientist.com/article.ns?id=dn7445 Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.

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