Additional Resources

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)
• 22q11.2 Deletion or Duplication
  • DGS Deletion (OMIM 188400)
  • VCF Deletion (OMIM 192430)
  • Duplication (OMIM 608363)
• Sex Determining SRY (OMIM 480000)