• List of genetic disorders

A

• Aarskog syndrome
• Aase syndrome
• Abderhalden-Kaufmann-Lignac syndrome
• Abetalipoproteinemia
• Achondroplasia
• Acrofacial dysostosis, Nager type
• Adducted thumb syndrome recessive form
• Adenosine deaminase deficiency
• Alkaptonuria
• Alpha-1-Antitrypsin Deficiency
• Alpha-mannosidosis
• Alport syndrome
• Andersen-Tawil syndrome
• Androgen insensitivity syndrome
• Aneuploidy
• Anticipation (genetics)
• Apert syndrome
• Ataxia telangiectasia

B

• Bardet-Biedl syndrome
• Barth syndrome
• Becker's muscular dystrophy
• Birt-Hogg-Dubé syndrome
• Bloom syndrome

C

• Canavan disease
• Charcot-Marie-Tooth disease
• Chromosome 22, microdeletion 22 q11
• Chronic granulomatous disease
• Cockayne syndrome
• Coffin-Lowry syndrome
• Cri du chat

C cont.

• Crouzon syndrome

D

• DiGeorge syndrome
• Dor Yeshorim

E

• Ellis-van Creveld syndrome

F

• Familial Mediterranean fever
• Familial adenomatous polyposis
• Familial dysautonomia
• Fanconi anemia
• Fragile X syndrome
• Fructose intolerance
• Fructose malabsorption

G

• Galactosemia
• Gaucher's disease
• Genetic disorder
• Glanzmann's thrombasthenia

H

• Haemophilia
• Hereditary hemorrhagic telangiectasia
• Hereditary nonpolyposis colorectal cancer
• Hereditary spastic paraplegia
• Hyperimmunoglobinemia D with recurrent fever

I

• Immunodeficiency, centromere instability and facial anomalies syndrome

J

• Jervell and Lange-Nielsen syndrome
• Joubert syndrome

K

• Krabbe disease

L

• Lesch-Nyhan syndrome
• Li-Fraumeni syndrome
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

M

• Marfan syndrome
• Medium chain acyl dehydrogenase deficiency
• Myeloperoxidase deficiency

N

• Neurofibromatosis
• Neurofibromatosis type I

O

• Occipital horn syndrome

P

• Pendred syndrome
• Peutz-Jeghers syndrome
• Phenylketonuria
• Polycystic kidney disease
• Porphyria
• Preimplantation genetic diagnosis
• Progeria
• Propionic acidemia

R

• Retinitis pigmentosa
• Romano-Ward syndrome
• Rothmund-Thompson's syndrome
• Rubinstein-Taybi syndrome

S

• Sickle cell anemia

T

• TAR syndrome
• Tay-Sachs disease
• Thalassemia
• Timothy syndrome
• Treacher Collins syndrome
• Triple X syndrome
• Tuberous scelerosis
• Tuberous sclerosis
• Turner syndrome

V

• Von Gierke's disease
• Von Willebrand disease

W

• Waardenburg syndrome
• Werner syndrome
• Williams syndrome
• Wilson's disease
• Wiskott-Aldrich syndrome

X

• Xeroderma pigmentosum