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Aarskog Syndrome
Aase Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Adie Syndrome
Adrenoleukodystrophy
Agnosia
Aicardi Syndrome
Alagille Syndrome
Alström Syndrome
Alternating Hemiplegia
Apert Syndrome
Arthrogryposis
Ataxia
Bardet-Biedl Syndrome
Barth Syndrome
Behcet's Syndrome
Blastomycosis
Botulism
Celiac
Cerebrocostomandibular Syndrome
Charcot-Marie-Tooth Disease
Cleidocranial Dysplasia
Cockayne Syndrome
Coffin Lowry Syndrome
Cornelia De Lange Syndrome
Corticobasal Degeneration
Costello Syndrome
Craniofrontonasal Dysplasia
Cri du Chat Syndrome
Crigler-Najjar Syndrome
Cyclic Vomiting Syndrome
Cystinosis
Dandy Walker Syndrome
Degos
Dercum Disease
DiGeorge Syndrome
Dubowitz Syndrome
Dystonia
Ehlers-Danlos Syndrome
Erythromelalgia
Fabry's
Familial Dysautonomia
Fanconi Anemia
Floating-Harbor Syndrome
Friedreich Ataxia
Galactosemia
Gaucher's
Gerstmann Syndrome
Glutaricaciduria
Guillain-Barre Syndrome
Gustatory Sweating
Hallervorden-Spatz Syndrome
Hemihypertrophy
Hemophilia
Hereditary Angioedema
Hidradenitis Suppurativa
Homocystinuria
Horner Syndrome
Huntington's
Hydrocephalus
Incontinentia Pigmenti
Isaacs Syndrome
Jacobsen Syndrome
Joubert Syndrome
Kearns Sayre Syndrome
Kernicterus
Klippel-Feil Syndrome
Kluver-Bucy Syndrome
Laurence-Moon Syndrome
Leigh's
Lesch-Nyhan Syndrome
Lissencephaly
Lowe Syndrome
Madelung's
Mannosidosis
Marfan Syndrome
Mastocytosis
Meige Syndrome
Melorheostosis
Mobius Syndrome
Moyamoya
Multiple Hereditary Exostoses
Myotonic Dystrophy
Nail Patella Syndrome
Narcolepsy
Neurofibromatosis
Neuroleptic Malignant Syndrome
Niemann-Pick
Noonan Syndrome
Olivopontocerebellar Atrophy
Ollier Disease
Opitz Syndrome
Osteogenesis Imperfecta
Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome
Pemphigoid
Pemphigus
Phenylketonuria
Pick Disease of the Brain
Pierre Robin Syndrome
POEMS Syndrome
Porencephaly
Porphyrias
Prader-Willi Syndrome
Progeria
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Refsum's
Retinoblastoma
Rett's Syndrome
Rickets
Robinow Syndrome
Rubinstein-Taybi Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome
Spina Bifida
Stickler's Syndrome
Stiff-Person Syndrome
Sturge-Weber Syndrome
Subacute Sclerosing Panencephalitis
Tangier
Tay-Sachs
Thalassemia
Thrombocytopenia Absent Radius Syndrome
Tourette Syndrome
Treacher Collins Syndrome
Tuberous Sclerosis
Turner Syndrome
Tyrosinemia
Usher Syndrome
VATER Syndrome
Velo-Cardio-Facial Syndrome
Waardenburg Syndrome
WAGR Syndrome
Weaver Syndrome
Wegener's Granulomatosis
Williams Syndrome
Wilson's Disease
Xeroderma Pigmentosum
Zellweger Syndrome
Zollinger-Ellison Syndrome


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