Caused by mutations in the ATR X gene. ATR X syndrome is characterised by severe learning difficulties, a characteristic facial appearance, abnormal genitalia and alpha
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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 … Wikipedia
Lujan-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 … Wikipedia
Mild 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 … Wikipedia
Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 … Wikipedia
Coffin–Lowry syndrome — Coffin Lowry syndrome Classification and external resources ICD 9 759.89 OMIM 303600 DiseasesDB … Wikipedia
Conradi–Hünermann syndrome — Conradi Hünermann syndrome Classification and external resources ICD 10 Q77.3 ICD 9 756.59 … Wikipedia
MASA 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 … Wikipedia
Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 … Wikipedia
Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 … Wikipedia
FG syndrome — Classification and external resources OMIM 305450 DiseasesDB 32162 GeneReviews … Wikipedia
