ICD-10: Q93

monogenic disease obsolete genetic disorder lacrimoauriculodentodigital syndrome 1 campomelic dysplasia Donohue syndrome Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease intermediate type obsolete Majewski syndrome X-linked sideroblastic anemia with ataxia obsolete infantile onset spinocerebellar ataxia Walker-Warburg syndrome spondylocostal dysostosis acrodermatitis enteropathica Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 Baller-Gerold syndrome Bethlem myopathy Y-linked monogenic disease autosomal genetic disease ataxia with oculomotor apraxia type 1 Ogden syndrome Kahrizi syndrome Perrault syndrome fragile X-associated tremor/ataxia syndrome spastic ataxia 2 spastic ataxia 3 spinocerebellar ataxia type 2 spinocerebellar ataxia type 8 spinocerebellar ataxia type 11 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 21 spinocerebellar ataxia type 25 spinocerebellar ataxia type 26 spinocerebellar ataxia type 31 episodic ataxia type 6 episodic ataxia type 8 autosomal recessive spinocerebellar ataxia 10 CD3delta deficiency lambda 5 deficiency amyotrophic lateral sclerosis type 16 Adams-Oliver syndrome Baraitser-Winter syndrome pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 5 chromosome 15q25 deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 22q11.2 deletion syndrome, distal chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 5q12 deletion syndrome Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 3MC syndrome 1 Nance-Horan syndrome Muenke Syndrome hypomyelinating leukodystrophy 10 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability Hedera type Miles-Carpenter syndrome syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Abidi type combined oxidative phosphorylation deficiency oculodentodigital dysplasia congenital secretory chloride diarrhea 1 Native American myopathy orofaciodigital syndrome VIII acrofacial dysostosis, Patagonia type chondrodysplasia Blomstrand type chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome Griscelli syndrome type 3 Pierson syndrome Potocki-Lupski syndrome syndromic X-linked intellectual disability Chudley-Schwartz type syndromic X-linked intellectual disability 14 Christianson syndrome Mowat-Wilson syndrome Schimke immuno-osseous dysplasia Warsaw breakage syndrome Barber-Say syndrome Kufor-Rakeb syndrome lethal congenital contracture syndrome 2 chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome MEDNIK syndrome