ICD-10: Q45.8

Miles-Carpenter syndrome Griscelli syndrome type 3 Potocki-Lupski syndrome Caroli disease pancreatic agenesis spastic ataxia 7 janus kinase-3 deficiency succinic semialdehyde dehydrogenase deficiency Dowling-Degos disease congenital secretory chloride diarrhea 1 chromosome 17q21.31 duplication syndrome Schimke immuno-osseous dysplasia Barber-Say syndrome Ritscher-Schinzel syndrome 2 Nance-Horan syndrome congenital chylothorax Danon disease Gamstorp-Wohlfart syndrome Askin's tumor Bamforth-Lazarus syndrome Bjornstad syndrome Bowen-Conradi syndrome brachyolmia Brody myopathy AGAT deficiency tyrosinemia type III schneckenbecken dysplasia achalasia microcephaly syndrome fibroma