severe combined immunodeficiency syndrome
31Mohr–Tranebjærg syndrome — Classification and external resources OMIM 304700 Mohr–Tranebjærg syndrome (MTS) is a rare X liked recessive syndrome also known as Deafness dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960 …
32Conradi–Hünermann syndrome — Conradi Hünermann syndrome Classification and external resources ICD 10 Q77.3 ICD 9 756.59 …
33Complete 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 …
34Orofaciodigital syndrome 1 — Classification and external resources OMIM 311200 DiseasesDB 29898 MeSH …
35Nasodigitoacoustic syndrome — Classification and external resources ICD 10 Q …
36Occipital horn syndrome — Classification and external resources OMIM 304150 DiseasesDB 33413 Occipital horn syndrome (OHS), formerly considered a variant of Eh …
37MASA syndrome — Classification and external resources OMIM 303350 MASA syndrome, also called CRASH syndrome and Gareis Mason syndrome,[1] is a rare X linked recessive[2 …
38Nevoid basal cell carcinoma syndrome — Classification and external resources Micrograph showing keratocystic odontogenic tumour, a common finding in nevoid basal cell carcinoma syndrome. H E stain …
39McLeod syndrome — This article is about the genetic disease of the blood, not MacLeod s syndrome (the lung disease). McLeod syndrome Classification and external resources OMIM 314850 DiseasesDB 29708 …
40Muenke syndrome — Classification and external resources OMIM 602849 DiseasesDB 33585 Muenke Syndrome, also known as FGFR3 related craniosynostosis …
