ICD-10: H02.514

Kufor-Rakeb syndrome lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 2 3MC syndrome 3 Nance-Horan syndrome Muenke Syndrome EEC syndrome Prieto syndrome Wilson-Turner syndrome Miles-Carpenter syndrome Christianson syndrome obsolete Brooks-Wisniewski-Brown syndrome Norrie disease Pierson syndrome Danon disease Frasier syndrome Usher syndrome Liddle syndrome bulbospinal polio Gamstorp-Wohlfart syndrome Fukuyama congenital muscular dystrophy ABCD syndrome Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 distal arthrogryposis Baller-Gerold syndrome Bamforth-Lazarus syndrome Bart-Pumphrey syndrome bestrophinopathy Birk-Barel syndrome Bjornstad syndrome Bowen-Conradi syndrome Brown-Vialetto-Van Laere syndrome electroclinical syndrome childhood electroclinical syndrome Qazi Markouizos syndrome ARC syndrome rapadilino syndrome Ogden syndrome Kahrizi syndrome urofacial syndrome focal dystonia multifocal dystonia oculogyric crisis cranio-facial dystonia IMAGe syndrome episodic ataxia type 1 episodic ataxia type 4 episodic ataxia type 7 episodic ataxia type 8 Kennedy's disease amyotrophic lateral sclerosis type 19 Cogan-Reese syndrome Baraitser-Winter syndrome Van Maldergem syndrome MASA syndrome Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia Rapp-Hodgkin syndrome Stormorken syndrome Vici syndrome Hennekam syndrome chromosome 19q13.11 deletion syndrome Cole-Carpenter syndrome salt and pepper syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome Barber-Say syndrome ablepharon macrostomia syndrome