ICD-10: E88.43

autoimmune polyendocrine syndrome type 2 monogenic disease obsolete genetic disorder mulibrey nanism nonphotosensitive trichothiodystrophy 4 ABCD syndrome acrodermatitis enteropathica Bart-Pumphrey syndrome Bethlem myopathy Bietti crystalline corneoretinal dystrophy Birk-Barel syndrome Bowen-Conradi syndrome Brown-Vialetto-Van Laere syndrome childhood electroclinical syndrome COX deficiency, infantile mitochondrial myopathy vitamin metabolic disorder Chanarin-Dorfman syndrome ARC syndrome Kahrizi syndrome Perrault syndrome inclusion body myopathy with Paget disease of bone and frontotemporal dementia spastic ataxia 4 spinocerebellar ataxia type 12 spinocerebellar ataxia type 15 spinocerebellar ataxia type 20 GRID2-related spinocerebellar ataxia episodic ataxia type 3 episodic ataxia type 6 episodic ataxia type 8 dropped head syndrome familial juvenile hyperuricemic nephropathy amyotrophic lateral sclerosis type 10 amyotrophic lateral sclerosis type 16 obsolete amyotrophic lateral sclerosis type 17 Van Maldergem syndrome MASA syndrome rippling muscle disease 2 pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 6 Ohdo syndrome mitochondrial complex III deficiency nuclear type 2 Galloway-Mowat syndrome 1 orofaciodigital syndrome IV orofaciodigital syndrome VII orofaciodigital syndrome VIII Cole-Carpenter syndrome MEDNIK syndrome EAST syndrome Barber-Say syndrome lethal congenital contracture syndrome 2 obsolete DMD-related dilated cardiomyopathy Char syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 3 Yunis-Varon syndrome WHIM syndrome 1 lethal congenital contracture syndrome 3 Wilson-Turner syndrome Christianson syndrome