has material basis in germline mutation in MYLK megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome 1 https://www.malacards.org/card/megacystis_microcolon_intestinal_hypoperistalsis_syndrome_1 Berdon syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH DOID:0060610 MEDGEN:1778116 SCTID:253781004 MMIH syndrome MMIHS UMLS:C5542316 megacystis microcolon intestinal hypoperistalsis syndrome MESH:C536138 megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome GARD:0015195 megacystis, microcolon, hypoperistalsis syndrome NCIT:C98982 OMIM:249210 Orphanet:2241 MONDO:0100354