[8] Diagnoses of this syndrome have occurred in Switzerland, Sicily, the Northern Israel Druze community as well as some other parts of Western Europe.

[7] The only symptoms seen consistently in all 24 diagnosed cases are epilepsy, amelogenesis imperfecta in both primary and secondary teeth, and developmental delay.

[5][6][10] Other physical symptoms that some cases have presented with include broad thumbs and toes, microcephaly, coarse hair, mildly asymmetric skull, up slanting palpebral fissures which is where the outside corners of the eyes are higher than normal, and smooth philtrum which is where the upper lip does not have a dip in the center.

The fourth child demonstrated developmental delay at age 6 months and had epileptic attacks that were only partially responsive to treatment.

[7] Symptoms of KTS, including epilepsy, amelogenesis imperfecta and developmental delay, overlap with the phenotype described for den Hoed-de Boer-Voisin syndrome (DHDBV),[11] an autosomal dominant condition caused by heterozygous missense variants in SATB1.

Although several mutations in the ROGDI gene have been linked to the cause of KTS, the connection between the enamel defect and the altered brain function of patients has not yet been found.

It is also highly expressed in other parts of the adult brain, spinal cord, peripheral blood, heart, and bone marrow.

These studies showed a low level of expression in the fetal brain which is consistent with the onset of symptoms occurring no earlier than one month after birth.

Studies also suggest that ROGDI may interact with DISC1 which is involved in neuronal proliferation and migration and differentiation of cortical interneurons.

This duplication that caused the frameshift resulted in a premature stop codon in the ROGDI gene after the 19th amino acid.

[14][15] Diagnosis occurs based on the two most common features of this syndrome: epilepsy and symmetrical enamel hypoplasia also known as amelogenesis imperfecta.

The onset of symptoms can occur when the patient is between one month and four years old, contributing to the misconception that tooth discoloration is due to the environment.

[citation needed] Magnetic resonance imaging (MRI) in one family showed mild atrophy of the cranial vermis as well as a small pons.

The infant's symptoms included loss of motor skills, mental disability, epilepsy, and missing enamel.

The infant also showed signs of myelin breakdown and did not produce the same amount of sweat as a normal person which resulted in the development of the term amelo-cerebro-hypohydrotic syndrome.