ICD-10: E79

Charlevoix-Saguenay spastic ataxia episodic ataxia type 5 episodic ataxia type 7 episodic ataxia type 8 Pearson syndrome mu chain disease GABA aminotransferase deficiency Cogan-Reese syndrome Van Maldergem syndrome MASA syndrome pontocerebellar hypoplasia type 10 Ohdo syndrome, SBBYS variant CEDNIK syndrome Vici syndrome Hennekam syndrome chromosome 17p13.1 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 17p13.3 duplication syndrome lysinuric protein intolerance Char syndrome patent blue V allergy obsolete complex genetic disease Frasier syndrome 2-hydroxyglutaric aciduria glycogen storage disease XV glycogen storage disease IX Aland Island eye disease anauxetic dysplasia 1 Bamforth-Lazarus syndrome Birk-Barel syndrome Bowen-Conradi syndrome Brooke-Spiegler syndrome ornithine translocase deficiency Y-linked monogenic disease autosomal genetic disease adenylosuccinase lyase deficiency Ogden syndrome pyrimidine metabolic disorder orotic aciduria Perrault syndrome Ritscher-Schinzel syndrome 2 3MC syndrome 3 Yunis-Varon syndrome WHIM syndrome 1 Prieto syndrome syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome Miles-Carpenter syndrome obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 patterned macular dystrophy 3 Holzgreve-Wagner-Rehder Syndrome