autism
acute intermittent porphyria
albinism
ataxia-telangiectasia
Beckwith-Wiedemann syndrome
Best's disease
beta-ketothiolase deficiency
beta thalassemia
bladder cancer
breast cancer
carnitine palmitoyltransferase I deficiency
Charcot-Marie-Tooth disease
Cystic fibrosis
Depression
Denys-Drash syndrome
familial Mediterranean fever
Hereditary angioedema OMIM: 106100
Jacobsen syndrome
Jervell and Lange-Nielsen syndrome
Mantle cell lymphoma (t11;14)
Meckel syndrome
methemoglobinemia, beta-globin type
Mixed Lineage Leukemia
multiple endocrine neoplasia type 1
Hereditary Multiple Exostoses
Niemann-Pick disease
nonsyndromic deafness
porphyria
Potocki-Shaffer Syndrome
Romano-Ward syndrome
Sickle cell anemia
Smith-Lemli-Opitz syndrome
tetrahydrobiopterin deficiency
Usher syndrome
WAGR syndrome
Wiedemann-Steiner syndrome
Wilms' tumor
