The presence of the disease can be confirmed with a genetic test. In a study of 10 infants with clinical indications of NSML prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation. An additional patient with the suspected mutation was subsequently found to have NF1, following evaluation of the mother. There are 5 identified allelic variants responsible for NSML. Y279C, T468M, A461T, G464A, and Q510P which seems to be a unique familial mutation, in that all other variants are caused by transition errors, rather than transversion.
Noonan syndrome with multiple lentigines
Multiple hamartoma syndrome
Hemihyperplasia–multiple lipomatosis syndrome
Sabinas brittle hair syndrome
Tuber cinereum hamartoma
Acorea, microphthalmia and cataract syndrome
Pure hair-nail type ectodermal dysplasia
Lenz microphthalmia syndrome