Clinical diagnosis Autosomal recessive inheritance A clinical diagnosis of<unk>  is supported by a constellation of criteria: * No fungiform papillae on the tongue * Decreased deep tendon reflexes * Lack of an axon flare following intradermal histamine * No overflow tears with emotional crying Genetic testing Genetic testing is performed on a small sample of blood from the tested individual. The DNA is examined with a designed probe specific to the known mutations. The accuracy of the test is above 99%. Dr. Anat Blumenfeld of the Hadassah Medical center in Jerusalem identified chromosome number 9 as the responsible chromosome. Prenatal testing<unk>  is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. If both parents are shown to be carriers by genetic testing, there is a 25% chance that the child will have<unk> . For pregnancies at increased risk for<unk> , preimplantation genetic diagnosis or prenatal diagnosis by amniocentesis (at 15–17 weeks) or chorionic villus sampling (at 10–14 weeks) is possible.
Familial dysautonomia
Bartter syndrome
Arts syndrome
Blind loop syndrome
Andersen–Tawil syndrome
Crandall syndrome
Barakat syndrome
Eagle syndrome