ICD-10: Q04

Hirata disease bradyopsia Danon disease Frasier syndrome Liddle syndrome obsolete Majewski syndrome cranioectodermal dysplasia ABCD syndrome Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 Bart-Pumphrey syndrome bestrophinopathy spastic cerebral palsy Birk-Barel syndrome blue cone monochromacy Athabaskan brainstem dysgenesis syndrome electroclinical syndrome infancy electroclinical syndrome Y-linked monogenic disease Qazi Markouizos syndrome ataxia with oculomotor apraxia type 1 cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency spinocerebellar ataxia type 40 episodic ataxia type 7 integrative agnosia dentatorubral-pallidoluysian atrophy homocarnosinosis Cogan-Reese syndrome Baraitser-Winter syndrome MASA syndrome Smith-McCort dysplasia pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 4 cerebral creatine deficiency syndrome 1 Kahrizi syndrome hemidystonia Marshall-Smith syndrome Koolen de Vries syndrome Townes-Brocks syndrome spinocerebellar ataxia type 18 spinocerebellar ataxia type 21 spinocerebellar ataxia type 26 spinocerebellar ataxia type 36 pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 10 Ohdo syndrome Meier-Gorlin syndrome acromelic frontonasal dysostosis Joubert syndrome with orofaciodigital defect acrofacial dysostosis Rodriguez type chromosome 18p deletion syndrome Desbuquois dysplasia MEDNIK syndrome EAST syndrome Miles-Carpenter syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 2 Ritscher-Schinzel syndrome 3MC syndrome 3 fetal encasement syndrome lethal congenital contracture syndrome 3 syndromic X-linked intellectual disability Lubs type