<unk>  may vary widely among patients. The most common features are the presence of neurofibromas, plexiform neurofibromas, Lisch nodules, cafe au lait macules (CALM), delayed puberty features, and cognitive impairment.<unk> <unk> <unk>  may be diagnosed clinically with great specificity and sensitivity by the presence of 2 characteristic features on physical examination, although many children with the NF1 gene mutation may not meet the criteria at age<unk> , but will do so at 8 years old in 97% of the cases.
Neurofibromatosis type 1 physical examination
Lesch-Nyhan syndrome physical examination
Tuberous sclerosis MRI
Hunter syndrome physical examination
Asperger syndrome physical examination
Cowden syndrome physical examination
Cretinism physical examination
Fanconi syndrome physical examination