ICD-10: E71.518

Yunis-Varon syndrome XFE progeroid syndrome WHIM syndrome 1 Nance-Horan syndrome alpha-methylacyl-CoA racemase deficiency ulnar-mammary syndrome ethylmalonic encephalopathy dicarboxylic aminoaciduria lethal congenital contracture syndrome 3 Muenke Syndrome restrictive dermopathy autosomal recessive Robinow syndrome autosomal dominant Robinow syndrome 2 EEC syndrome hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 7 Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Chudley-Schwartz type Christianson syndrome obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 hereditary neuropathy with liability to pressure palsies Norrie disease Hirata disease Kartagener syndrome monogenic disease mesocestoidiasis obsolete genetic disorder obsolete peripheral dysostosis lacrimoauriculodentodigital syndrome 1 Danon disease Frasier syndrome Usher syndrome familial partial lipodystrophy Farber lipogranulomatosis erythrokeratodermia variabilis Donohue syndrome Alstrom syndrome Netherton syndrome Gamstorp-Wohlfart syndrome nonphotosensitive trichothiodystrophy 4 posterior polar cataract Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 3 hypermethioninemia obsolete Saldino-Noonan syndrome obsolete Majewski syndrome Walker-Warburg syndrome West syndrome congenital disorder of glycosylation type II 2-hydroxyglutaric aciduria cranioectodermal dysplasia glycogen storage disease XV congenital generalized lipodystrophy ABCD syndrome Askin's tumor Aland Island eye disease Allan-Herndon-Dudley syndrome Finnish type amyloidosis anauxetic dysplasia 1 obsolete anonychia congenita Baller-Gerold syndrome Bamforth-Lazarus syndrome Bart-Pumphrey syndrome bestrophinopathy Bethlem myopathy Birk-Barel syndrome Bjornstad syndrome Blau syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome branchiooculofacial syndrome Brody myopathy Brooke-Spiegler syndrome Brown-Vialetto-Van Laere syndrome neonatal period electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency COX deficiency, infantile mitochondrial myopathy vitamin metabolic disorder PSAT deficiency PSPH deficiency tyrosinemia type III methylmalonic aciduria and homocystinuria type cblE congenital intrinsic factor deficiency X-linked monogenic disease autosomal dominant disease Y-linked monogenic disease Qazi Markouizos syndrome deafness-dystonia-optic neuronopathy syndrome X-linked myopathy with excessive autophagy adenylosuccinase lyase deficiency ARC syndrome spastic ataxia 1 rapadilino syndrome Meckel syndrome obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome cone dystrophy achalasia microcephaly syndrome cerebral creatine deficiency syndrome 1 Kahrizi syndrome temtamy preaxial brachydactyly syndrome Stargardt disease obsolete Matthew-Wood syndrome orotic aciduria Perrault syndrome Marshall-Smith syndrome Caroli disease pancreatic agenesis Koolen de Vries syndrome spinocerebellar ataxia type 5 infantile cerebellar-retinal degeneration Townes-Brocks syndrome spastic ataxia 4 spastic ataxia 7 Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia spinocerebellar ataxia type 1 spinocerebellar ataxia type 4 spinocerebellar ataxia type 10 spinocerebellar ataxia type 12 spinocerebellar ataxia type 13 spinocerebellar ataxia type 17 spinocerebellar ataxia type 18 spinocerebellar ataxia type 19/22 spinocerebellar ataxia type 23 spinocerebellar ataxia type 27 spinocerebellar ataxia type 28 spinocerebellar ataxia type 30 spinocerebellar ataxia type 34 spinocerebellar ataxia type 35 spinocerebellar ataxia type 38 episodic ataxia type 3 episodic ataxia type 6 episodic ataxia type 8 autosomal recessive spinocerebellar ataxia 10 coronin-1A deficiency reticular dysgenesis Pearson syndrome delta chain disease akinetopsia Kennedy's disease juvenile absence epilepsy amyotrophic lateral sclerosis type 16 Cogan-Reese syndrome Adams-Oliver syndrome Baraitser-Winter syndrome Carpenter syndrome Warburg micro syndrome Van Maldergem syndrome UV-sensitive syndrome MASA syndrome Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 dyschromatosis symmetrica hereditaria pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 peeling skin syndrome Ohdo syndrome Ohdo syndrome, SBBYS variant congenital secretory chloride diarrhea 1 Meier-Gorlin syndrome autosomal recessive intellectual developmental disorder Rapp-Hodgkin syndrome CEDNIK syndrome Native American myopathy acrorenal syndrome Stormorken syndrome Vici syndrome punctate palmoplantar keratoderma Galloway-Mowat syndrome 1 Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome IV Joubert syndrome with orofaciodigital defect orofaciodigital syndrome VIII orofaciodigital syndrome XI acrofacial dysostosis Rodriguez type chondrodysplasia Blomstrand type chromosome 10q23 deletion syndrome chromosome 18p deletion syndrome chromosome 4q21 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 16p11.2 duplication syndrome chromosome 17q12 duplication syndrome Cole-Carpenter syndrome lysinuric protein intolerance stromal dystrophy Schnyder corneal dystrophy chromosome 5p13 duplication syndrome Desbuquois dysplasia fibrochondrogenesis salt and pepper syndrome Kindler syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Perry syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia autoimmune neuropathy Warsaw breakage syndrome Barber-Say syndrome ablepharon macrostomia syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3