severe combined immunodeficiency syndrome
11Omenn syndrome — Classification and external resources ICD 10 D81.2 (ILDS D81.210) OMIM 603554 Diseases …
12Coffin–Lowry syndrome — Coffin Lowry syndrome Classification and external resources ICD 9 759.89 OMIM 303600 DiseasesDB …
13Mild androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …
14Donohue syndrome — Classification and external resources insulin receptor OMIM 246200 …
15Lujan-Fryns syndrome — Lujan–Fryns syndrome Classification and external resources Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin. ICD 10 F …
16Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 …
17Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 …
18Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 …
19Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …
20Robinow syndrome — Classification and external resources An infant exhibiting the facial features of Robinow syndrome. ICD 10 Q …
