Online Mendelian Inheritance in Man (OMIM):
To access the OMIM web site, please visit: www.ncbi.nlm.nih.gov/omim.
Below is a list of the common diseases for which the Genetics Laboratories at Kennedy Krieger Institute tests. Please click on the accompanying links to visit the OMIM web site for more information.
- Cerebrotendinous Xanthomatosis (OMIM 213700)
- XALD (OMIM 300100)
- Smith-Lemli-Opitz Syndrome (OMIM 270400)
- Sitosterolemia (OMIM 210250)
- Phytosterolemia (OMIM 210250)
- Lathosterolosis (OMIM 607330)
- Desmosterolosis (OMIM 602398)
- X-Linked Creatine Transporter Deficiency (OMIM 300352)
- Arginine Glycine Amidinotransferase (AGAT) Deficiency (OMIM 612718)
- Guanidinoacetate Methyltransferase (GMAT) Deficiency (OMIM 612736)
- Zellweger Syndrome (OMIM 214100)
- NALD (OMIM 202370)
- Infantile Refsum Disease (OMIM 266510)
- Refsum Disease (OMIM 266500)
- Methylmalonic Acidemia (OMIM 251000, 277410, 277400, 251100, and 277380)
- Canavan Disease (OMIM 271900)
- Hyper IgD Syndrom (OMIM 260920)
- Mevalonic Aciduria (OMIM 610377)
- Methylglutaconic Acidurias
- Barth Syndrome (OMIM 302060)
- Costeff Hereditary Optic Atrophy (OMIM 258501)
- 3-MGC Hydratase Deficiency (OMIM 250950)
- Ornithine Transcarbamylase (OTC) Deficiency (OMIM 311250)
- Rhizomelic Chondrodysplasia Punctata (RCDP) (OMIM 215100)