PCNT and Alagille syndrome: Among other MMA-associated genes, pathogenic variants were found in ACTA2 (2 patients, both carrying the p.(Arg179His) variant), GUCY1A3 (Moyamoya 6 with achalasia, OMIM 615750, AR), JAG1 (Alagille syndrome, OMIM 118450, AD), ANK1 and SPTB (spherocytosis) and PCNT (microcephalic osteodysplastic primordial dwarfism, type II / MOPD type II, AR, OMIM 210720).