Chromosome AD AR Others

Number
3 VHL (3letters) RCC (3 letters)
4 ADPKD (PKD2)
Huntington´s
Achondroplasia

5 Familial adenomatous Cri-du-chat (5p-)

polyposis (POLYP… 5 letters)
6 Hemochromatosis (HFE)
ARPKD (PKHD1 gene)
7 Cystic Fibrosis Williams Syndrome
(CTFR gene, ∆F508)
9 Tuberous Sclerosis (TSC1) Freidreich's Ataxia (FXN gene,
GAA)
10 MEN2 (RET gene)
11 MEN1 (menin) β-globin defects (e.g. Sickle cell Wilms Tumor
disease, β-thalassemia)

13 BRCA2 (incomplete Wilson's Disease Patau Syndrome

penetrance)
Retinoblastoma (Rb1,
incomplete penetrance, 1/3 of
cases are inherited)
15 Marfan Syndrome Prader-Willi
Syndrome
Angelman
Syndrome
16 ADPKD (PKD1) α-globin gene defects
Tuberous Sclerosis (TSC2) (alpha-thalassemia… 16 letters)
17 Neurofibromatosis type 1
BRCA1 (incomplete
penetrance)
Li-Fraumeni Syndrome (p53)
18 Edwards Syndrome
21 Down´s Syndrome
22 Neurofibromatosis type 2
(NF2, 22 letters)
Di George Syndrome
(22q11.2)
Familial Hypercholesterolemia Albinism
Hereditary hemorrhagic Glycogen storage diseases
telangiectasia (Osler-Weber-
Rendu syndrome)
Myotonic Dystrophy (CTG) Kartagener Syndrome
Other
Mucopolysaccharidoses
Sphingolipidoses
Gaucher Disease
PKU deficiency
 X-Link dominant: Fragile X
X Syndrome Turner Syndrome (45,X0)
(FMR1 gene, CGG) Rett syndrome (MECP2)
Oblivious Ornithine Transcarbamylase Deficiency
Female Fabry disease
Will Wiskott-Aldrich Syndrome
Often Ocular Albinism
X-Linked Give G6PD Deficiency
Recessive Her Hunter Syndrome
Boys Bruton Agammaglobulinemia
Her Hemophilia A and B
X-Linked Lesch-Nyhan Syndrome
Disorders Dystrophy (Duchenne and Becker)