ICD-10: Q07

Netherton syndrome obsolete Saldino-Noonan syndrome obsolete Majewski syndrome Askin's tumor Bamforth-Lazarus syndrome Birk-Barel syndrome Boomerang dysplasia Bowen-Conradi syndrome Brown-Vialetto-Van Laere syndrome electroclinical syndrome infancy electroclinical syndrome variable age at onset electroclinical syndrome tyrosinemia type III autosomal dominant disease mitochondrial complex V (ATP synthase) deficiency nuclear type 1 rapadilino syndrome anismus obsolete Jensen syndrome fragile X-associated tremor/ataxia syndrome Townes-Brocks syndrome striated muscle rhabdoid tumor spinocerebellar ataxia type 6 spinocerebellar ataxia type 18 spinocerebellar ataxia type 19/22 spinocerebellar ataxia type 27 spinocerebellar ataxia type 36 spinocerebellar ataxia type 38 spinocerebellar ataxia type 40 episodic ataxia type 2 simultanagnosia social emotional agnosia MASA syndrome pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 5 Rapp-Hodgkin syndrome CEDNIK syndrome orofaciodigital syndrome III chromosome 15q25 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 1p36 deletion syndrome chromosome 17p13.3 duplication syndrome Desbuquois dysplasia Barber-Say syndrome Kufor-Rakeb syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 2 3MC syndrome 3 WHIM syndrome 1 fetal encasement syndrome familial temporal lobe epilepsy 2 syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 34 obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Norrie disease Potocki-Lupski syndrome pontocerebellar hypoplasia type 2E