Taken together, we have shown that the p.Met1Thr variant in the start codon of the AMOT gene in patients with hydrocephalus leads to an in-frame shift to the next ATG, resulting in a protein (AMOT130ΔN) of smaller size but increased protein stability, due to the loss of the N-terminal 91 amino acids. Here, AMOT is linked to Hydrocephalus.