severe combined immunodeficiency syndrome
21Oculocerebrorenal syndrome — Classification and external resources ICD 10 E72.0 ICD 9 270.8 …
22Androgen 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 …
23FG syndrome — Classification and external resources OMIM 305450 DiseasesDB 32162 GeneReviews …
24Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 …
25Nijmegen breakage syndrome — Classification and external resources OMIM 251260 DiseasesDB 32395 eMedicine …
26Crouzon syndrome — Classification and external resources ICD 10 Q75.1 ICD 9 756.0 …
27Cockayne syndrome — Classification and external resources ICD 10 Q87.1 (ILDS Q87.110) ICD 9 759.8 …
28Donnai-Barrow syndrome — Classification and external resources OMIM 222448 Donnai Barrow syndrome is a genetic disorder. It is associated with LRP2.[1] It is an inherited (genetic) disorder that affects many parts of the body …
29Loeys–Dietz syndrome — Loeys Dietz syndrome Classification and external resources OMIM below See below DiseasesDB 34032 Loeys Dietz syndrome is a recently discovered autosomal dominant genetic …
30Craniofrontonasal syndrome — Classification and external resources OMIM 304110 Craniofrontonasal syndrome is an X linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia …
