ICD-10: R13

orofaciodigital syndrome VIII EAST syndrome EEC syndrome Wilson-Turner syndrome Miles-Carpenter syndrome Hirata disease Frasier syndrome bulbospinal polio Gamstorp-Wohlfart syndrome congenital disorder of glycosylation type I ADULT syndrome triple-A syndrome bestrophinopathy Birk-Barel syndrome Bowen-Conradi syndrome Brody myopathy COX deficiency, infantile mitochondrial myopathy PSPH deficiency Qazi Markouizos syndrome amyotrophic lateral sclerosis type 12 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 amyotrophic lateral sclerosis type 15 amyotrophic lateral sclerosis type 16 Baraitser-Winter syndrome Van Maldergem syndrome MASA syndrome pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 3 Rapp-Hodgkin syndrome amyotrophic lateral sclerosis type 22 Galloway-Mowat syndrome 1