Genetic Disorders – Diseases

Aarskog Syndrome
1
Alagille Syndrome
1
Allan-Herndon-Dudley Syndrome
1
Alport Syndrome
1
Angelman Syndrome
1
Apert Syndrome
1
Bannayan-Riley-Ruvalcaba Syndrome
1
Bardet-Biedl Syndrome
1
Beckwith-Wiedemann Syndrome
1
Bloom Syndrome
1
Brugada Syndrome
1
Canavan Disease
1
Carpenter Syndrome
1
CHARGE Syndrome
1
Cockayne Syndrome
1
Cornelia de Lange Syndrome
1
Costello Syndrome
1
Cri-du-chat Syndrome
1
Crouzon Syndrome
1
DiGeorge Syndrome
1
Down Syndrome
1
Dravet Syndrome
1
Duchenne Muscular Dystrophy
1
Edwards Syndrome (Trisomy 18)
1
Fabry Disease
1
Familial Adenomatous Polyposis (Gardner Syndrome)
1
Fanconi Anemia
1
Fragile X Syndrome
1
Gaucher Disease
1
Hermansky-Pudlak Syndrome
1
Hunter Syndrome (MPS II)
1
Huntington’s Disease
1
Hurler Syndrome (MPS I)
1
Joubert Syndrome
1
Kabuki Syndrome
1
Kartagener Syndrome
1
Klinefelter Syndrome
1
Krabbe Disease
1
Leigh Syndrome
1
Lennox-Gastaut Syndrome
1
Leprechaunism (Donohue Syndrome)
1
Li-Fraumeni Syndrome
1
Lowe Syndrome
1
Lynch Syndrome
1
Marfan Syndrome
1
Meckel-Gruber Syndrome
1
Morquio Syndrome (MPS IV)
1
Mowat-Wilson Syndrome
1
Niemann-Pick Disease
1
Noonan Syndrome
1
Norrie Disease
1
Opitz Syndrome
1
Peutz-Jeghers Syndrome
1
Pfeiffer Syndrome
1
Phenylketonuria (PKU)
1
Pierre Robin Sequence
1
Pitt-Hopkins Syndrome
1
Poland Syndrome
1
Pompe Disease
1
Prader-Willi Syndrome
1
Proteus Syndrome
1
QT Long Syndrome
1
Refsum Disease
1
Rett Syndrome
1
Rett-like Syndrome (CDKL5)
1
Rubinstein-Taybi Syndrome
1
Saethre-Chotzen Syndrome
1
Sandhoff Disease
1
Seckel Syndrome
1
Sickle Cell Anemia
1
Silver-Russell Syndrome
1
Smith-Lemli-Opitz Syndrome
1
Sotos Syndrome
1
Stickler Syndrome
1
Tay-Sachs Disease
1
Timothy Syndrome
1
Trisomy 13 (Patau Syndrome)
1
Trisomy 18 (Edwards Syndrome)
1
Turner Syndrome
1
Usher Syndrome
1
Von Hippel-Lindau Syndrome
1
Waardenburg Syndrome
1
WAGR Syndrome
1
Williams Syndrome
1
Wilson Disease
1
Zellweger Syndrome
1

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