ICD-10: E83.0

monogenic disease Frasier syndrome Liddle syndrome nonphotosensitive trichothiodystrophy 4 Baller-Gerold syndrome Bamforth-Lazarus syndrome Birk-Barel syndrome Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome Brody myopathy aceruloplasminemia PSAT deficiency PSPH deficiency autosomal genetic disease Qazi Markouizos syndrome rapadilino syndrome Ogden syndrome Perrault syndrome IMAGe syndrome spastic ataxia 2 autosomal recessive spinocerebellar ataxia 10 Pearson syndrome Warburg micro syndrome MASA syndrome renal-hepatic-pancreatic dysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia Rapp-Hodgkin syndrome CEDNIK syndrome Stormorken syndrome Vici syndrome stromal dystrophy Kindler syndrome Kufor-Rakeb syndrome 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome Nance-Horan syndrome Prieto syndrome Miles-Carpenter syndrome Christianson syndrome obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 2