List of genetic disordersFrom Wikipedia, the free encyclopediaThe following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.Contents[hide] 1More common disorders 2Full list !ee also "#eferencesMore common disorders[edit] $ % $oint mutation, or any insertion&deletion entirely inside one gene ' % 'eletion of a gene or genes ( % )hole chromosome e*tra, missing, or +oth ,see chromosomal a+errations- T % Trinucleotide repeat disorders. gene is e*tended in lengthDisorder Mutation Chromosome22/11.2 deletion syndrome ' 22/0ngelman syndrome '($ 11(anavan disease 12p(harcot%Marie%Tooth disease(olor +lindness $ 3(ri du chat ' 1(ystic fi+rosis $ 2/'own syndrome ( 21'uchenne muscular dystrophy ' 3p4aemochromatosis $ 54aemophilia $ 36linefelter syndrome ( 37eurofi+romatosis 12/&22/&8$henylketonuria $ 12/$olycystic kidney disease $ 15 ,$6'1- or " ,$6'2-$rader%)illi syndrome '( 11!ickle9cell disease $ 11pTay%!achs disease $ 11Turner syndrome ( 3Full list[edit]Sortable tableDisorder name Mutation type Chromosome1p5 deletion syndrome ' 1p51:p deletion syndrome ' 1:p219hydro*ylase deficiency 5p21."1,3see Turner syndrome( 3"2,33,;21see 'own syndrome( 21"2,333see triple 3 syndrome( 3"2,33&III syndromesee 22/11.2 deletion syndrome' 22/autosomal recessive form of Huvenile 0=! type Sortable tableDisorder name Mutation type Chromosomesee 0myotrophic lateral sclerosisEtype 20utosomal recessive nonsyndromic hearing losssee 7onsyndromic deafnessEautosomal recessive0utosomal #ecessive !ensorineural 4earing ?mpairment and >oitersee $endred syndrome0*'see 0le*ander disease0yerBa syndromesee primary pulmonary hypertensionI variant of the 4e*osaminidase >M2 gangliosidosissee !andhoff diseaseI07Fsee neurofi+romatosis type ??Ieare9!tevenson cutis gyrata syndrome 1J/25Ienign paro*ysmal peritonitissee Mediterranean fever, familialIenHamin syndromeSortable tableDisorder name Mutation type Chromosome+eta9thalassemiaI4" 'eficiencysee tetrahydro+iopterin deficiencyIilateral 0coustic 7eurofi+romatosissee neurofi+romatosis type ??+iotinidase deficiency+ladder cancerIleeding disorderssee factor @ =eiden throm+ophiliaIloch9!ulB+erger syndromesee incontinentia pigmentiIloom syndrome 11/25.1Ione diseasesIone marrow diseasessee 39linked sidero+lastic anemiaIonnevie9Cllrich syndromesee Turner syndromeSortable tableDisorder name Mutation type ChromosomeIourneville diseasesee tu+erous sclerosisIourneville phakomatosissee tu+erous sclerosisIrain diseasessee prion disease+reast cancerIirt%4ogg%'u+K syndrome 12Irittle +one diseasesee osteogenesis imperfectaIroad Thum+94allu* syndromesee #u+instein9Tay+i syndromeIronBe 'ia+etessee hemochromatosisIronBed cirrhosissee hemochromatosisIul+ospinal muscular atrophy, 39linkedsee !pinal and +ul+ar muscular atrophySortable tableDisorder name Mutation type ChromosomeIurger9>rutB syndromesee lipoprotein lipase deficiency, familial(0'0!?= syndrome $ (>' (hronic granulomatous disorder(ampomelic dysplasia ( 12/2".9/21.1(anavan disease(ancer(ancer Family syndromesee hereditary nonpolyposis colorectal cancer(ancer of +reastsee +reast cancer [1](ancer of the +laddersee +ladder cancer(ar+o*ylase 'eficiency, Multiple, =ate9Fnsetsee +iotinidase deficiency$ (ardiomyopathysee 7oonan syndromeSortable tableDisorder name Mutation type Chromosome(at cry syndromesee (ri du chat(0@'see congenital a+sence of the vas deferens(aylor cardiofacial syndromesee 22/11.2 deletion syndrome' 22/(I0@'see congenital a+sence of the vas deferens(G$see congenital erythropoietic porphyria(eramide trihe*osidase deficiencysee Fa+ry disease3(ere+elloretinal 0ngiomatosis, familialsee von 4ippel9=indau disease$,p259p21-(ere+ral arteriopathywith su+cortical infarcts and leukoencephalopathysee (0'0!?= syndrome$ (ere+ral autosomal dominant ateriopathywith su+cortical infarcts and leukoencephalopathysee (0'0!?= syndrome$ Sortable tableDisorder name Mutation type Chromosome(ere+ral sclerosissee tu+erous sclerosisL ,/"-, 15 ,p1.-(ere+roatrophic 4yperammonemiasee #ett syndrome3(ere+roside =ipidosis syndromesee >aucher disease$ 1,/21-(Fsee cystic fi+rosis [1]' ,most common-Mor su+stitution(FT# ,2/1.2-(4see congenital hypothyroidism(harcot diseasesee amyotrophic lateral sclerosis(harcot9Marie9Tooth disease(hondrodystrophiasee achondroplasia(hondrodystrophy syndromesee achondroplasia(hondrodystrophy with sensorineural deafnesssee otospondylomegaepiphyseal dysplasiaSortable tableDisorder name Mutation type Chromosome(hondrogenesis imperfectasee achondrogenesis, type ??(horeoathetosis self9mutilation hyperuricemia syndromesee =esch97yhan syndrome$ 3(lassic >alactosemiasee galactosemia$ L ,p1-(lassical Ghlers%'anlos syndromesee Ghlers%'anlos syndromeEclassical type(lassical $henylketonuriasee phenylketonuria(left lip and palatesee !tickler syndrome(loverleaf skull with thanatophoric dwarfismsee Thanatophoric dysplasiaEtype 2(=!see (offin9=owry syndrome(MTsee (harcot9Marie9Tooth disease(ockayne syndromeSortable tableDisorder name Mutation type Chromosome(offin9=owry syndromecollagenopathy, types ?? and 3?(olon (ancer, familial 7onpolyposissee hereditary nonpolyposis colorectal cancer(olon cancer, familialsee familial adenomatous polyposis(olorectal cancer [1](omplete 4$#T deficiencysee =esch97yhan syndrome(omplete hypo*anthine9guanine phosphori+osyltransferase deficiencysee =esch97yhan syndrome(ompression neuropathysee hereditary neuropathy with lia+ility to pressure palsies(ongenital adrenal hyperplasiasee 219hydro*ylase deficiencycongenital +ilateral a+sence of vas deferenssee (ongenital a+sence of the vas deferensSortable tableDisorder name Mutation type Chromosome(ongenital erythropoietic porphyria(ongenital heart disease(ongenital hypomyelinationsee (harcot9Marie9Tooth diseaseEType 1see (harcot9Marie9Tooth diseaseEType "(ongenital hypothyroidism(ongenital methemoglo+inemiasee Methemoglo+inemiaE(ongenital methaemoglo+inaemia(ongenital osteosclerosissee achondroplasia(ongenital sidero+lastic anaemiasee 39linked sidero+lastic anemia3(onnective tissue disease(onotruncal anomaly face syndromesee 22/11.2 deletion syndrome' 22/(ooleyAs 0nemiasee +eta9thalassemiaSortable tableDisorder name Mutation type Chromosome(opper storage diseasesee )ilsonAs disease1 ,/1".-(opper transport diseasesee Menkes disease(oproporphyria, hereditarysee hereditary coproporphyria(oproporphyrinogen o*idase deficiencysee hereditary coproporphyria(owden syndrome($F deficiencysee hereditary coproporphyria($#F deficiencysee hereditary coproporphyria($3 deficiencysee hereditary coproporphyria(raniofacial dysarthrosissee (rouBon syndrome(raniofacial 'ysostosissee (rouBon syndromeSortable tableDisorder name Mutation type Chromosome(retinismsee congenital hypothyroidism(reutBfeldt9Nako+ diseasesee prion disease(ri du chat ' 1p(rohnAs disease, fi+rostenosing $ 15/12(rouBon syndrome F>F#2 ,1J/21.9/25-(rouBon syndrome with acanthosis nigricanssee (rouBonodermoskeletal syndrome(rouBonodermoskeletal syndrome(!see (ockayne syndromesee (owden syndrome(urschmann9Iatten9!teinert syndromesee myotonic dystrophycutis gyrata syndrome of Ieare9!tevensonsee Ieare9!tevenson cutis gyrata syndromeSortable tableDisorder name Mutation type Chromosome'9glycerate dehydrogenase deficiencysee hypero*aluria, primary'appled metaphysis syndromesee spondyloepimetaphyseal dysplasia, !trudwick type'0T 9 'ementia 0lBheimerAs typesee 0lBheimerAs disease>enetic hypercalciuriasee 'entAs disease3p11.22'IM'see muscular dystrophy, 'uchenne and Iecker types'eafness with goitersee $endred syndrome'eafness9retinitis pigmentosa syndromesee Csher syndrome'eficiency disease, $henylalanine 4ydro*ylasesee phenylketonuria$ 12/'egenerative nerve diseasesde >rouchy syndrome 1see 'e >rouchy syndrome' 1:pSortable tableDisorder name Mutation type Chromosome'eHerine9!ottas syndromesee (harcot9Marie9Tooth disease'elta9aminolevulinate dehydratase deficiency porphyriasee 0=0 dehydratase deficiency'ementiasee (0'0!?= syndromedemyelinogenic leukodystrophysee 0le*ander disease'ermatosparactic type of Ghlers%'anlos syndromesee Ghlers%'anlos syndromeEdermatospara*is type'ermatospara*issee Ghlers%'anlos syndromeEdermatospara*is typedevelopmental disa+ilitiesd4M7see distal hereditary motor neuropathy'4M79@see distal hereditary motor neuropathy'4T# deficiencysee androgen insensitivity syndrome3Sortable tableDisorder name Mutation type Chromosome'iffuse >lo+oid Iody !clerosissee 6ra++e disease'i >eorgeAs syndrome ' 22/'ihydrotestosterone receptor deficiencysee androgen insensitivity syndrome3distal hereditary motor neuropathy'M1see Myotonic dystrophyEtype 1T 1L'M2see Myotonic dystrophyEtype 2T 'own syndrome 21'!M0@see distal spinal muscular atrophy, type @'!7see (harcot9Marie9Tooth diseaseEtype "'!!see (harcot9Marie9Tooth disease, type "Sortable tableDisorder name Mutation type Chromosome'uchenne&Iecker muscular dystrophysee Muscular dystrophy, 'uchenne and Iecker type'warf, achondroplasticsee achondroplasia

'warf, thanatophoricsee thanatophoric dysplasia'warfism'warfism9retinal atrophy9deafness syndromesee (ockayne syndromedysmyelinogenic leukodystrophysee 0le*ander disease'ystrophia myotonicasee myotonic dystrophyT 1Ldystrophia retinae pigmentosa9dysostosis syndromesee Csher syndromeGarly9Fnset familial alBheimer disease ,GFF0'-see 0lBheimer diseaseEtype 1see 0lBheimer diseaseEtype see 0lBheimer diseaseEtype "Sortable tableDisorder name Mutation type ChromosomeG'!see Ghlers%'anlos syndromeGhlers%'anlos syndromeGkman9=o+stein diseasesee osteogenesis imperfectaGntrapment neuropathysee hereditary neuropathy with lia+ility to pressure palsiesGpiloiasee tu+erous sclerosisG$$see erythropoietic protoporphyriaGrythro+lastic anemiasee +eta9thalassemiaGrythrohepatic protoporphyriasee erythropoietic protoporphyriaGrythroid 19aminolevulinate synthetase deficiencysee 39linked sidero+lastic anemiaGrythropoietic porphyriasee congenital erythropoietic porphyriaSortable tableDisorder name Mutation type Chromosomeerythropoietic protoporphyriaGrythropoietic uroporphyriasee congenital erythropoietic porphyriaGye cancersee retino+lastoma F0 9 Friedreich ata*iasee FriedreichAs ata*iaF0see fanconi anemiaFa+ry disease $ 3/22.1Facial inHuries and disordersfactor @ =eiden throm+ophiliaF0=!see amyotrophic lateral sclerosisfamilial acoustic neuromasee neurofi+romatosis type ??familial adenomatous polyposisfamilial 0lBheimer disease ,F0'-Sortable tableDisorder name Mutation type Chromosomesee 0lBheimerAs diseasefamilial amyotrophic lateral sclerosissee amyotrophic lateral sclerosisfamilial dysautonomiafamilial fat9induced hypertriglyceridemiasee lipoprotein lipase deficiency, familialfamilial hemochromatosissee hemochromatosisfamilial =$= deficiencysee lipoprotein lipase deficiency, familialfamilial nonpolyposis colon cancersee hereditary nonpolyposis colorectal cancerfamilial paro*ysmal polyserositissee Mediterranean fever, familialfamilial $(Tsee porphyria cutanea tardafamilial pressure9sensitive neuropathysee hereditary neuropathy with lia+ility to pressure palsiesSortable tableDisorder name Mutation type Chromosomefamilial primary pulmonary hypertension ,F$$4-see primary pulmonary hypertensionFamilial Turner syndromesee 7oonan syndromefamilial vascular leukoencephalopathysee (0'0!?= syndromeF0$see familial adenomatous polyposisF'see familial dysautonomiaFemale pseudo9Turner syndromesee 7oonan syndromeFerrochelatase deficiencysee erythropoietic protoporphyriaferroportin diseasesee 4aemochromatosisEtype "Feversee Mediterranean fever, familialF> syndromeSortable tableDisorder name Mutation type ChromosomeF>F#9associated coronal synostosissee Muenke syndromeFi+rinoid degeneration of astrocytessee 0le*ander diseaseFi+rocystic disease of the pancreassee cystic fi+rosisFMFsee Mediterranean fever, familialFolling diseasesee phenylketonuriafra,3- syndromesee fragile 3 syndrome3/22.fragile 3 syndrome 3/22.Fragilitas ossiumsee osteogenesis imperfectaF#030 syndromesee fragile 3 syndrome3/22.F#'0see FriedreichAs ata*iaSortable tableDisorder name Mutation type ChromosomeFriedreichAs ata*iasee FriedreichAs ata*iaFriedreichAs ata*iaF3!see fragile 3 syndrome3/22.>5$' deficiency>alactokinase deficiency diseasesee galactosemia>alactose919phosphate uridyl9transferase deficiency diseasesee galactosemiagalactosemia>alactosylceramidase deficiency diseasesee 6ra++e disease>alactosylceramide lipidosissee 6ra++e diseasegalactosylcere+rosidase deficiencysee 6ra++e diseaseSortable tableDisorder name Mutation type Chromosomegalactosylsphingosine lipidosissee 6ra++e disease>0=( deficiencysee 6ra++e disease>0=T deficiencysee galactosemia>aucher disease>aucher9like diseasesee pseudo9>aucher disease>I0 deficiencysee >aucher disease type 1>'see >aucherAs disease>enetic +rain disordersgenetic emphysemasee alpha 19antitrypsin deficiencygenetic hemochromatosissee hemochromatosisSortable tableDisorder name Mutation type Chromosome>iant cell hepatitis, neonatalsee 7eonatal hemochromatosis>=0 deficiencysee Fa+ry disease>lio+lastoma, retinalsee retino+lastoma>lioma, retinalsee retino+lastomaglo+oid cell leukodystrophy ,>(=, >='-see 6ra++e diseaseglo+oid cell leukoencephalopathysee 6ra++e disease>lucocere+rosidase deficiencysee >aucher disease>lucocere+rosidosissee >aucher disease>lucosyl cere+roside lipidosissee >aucher disease>lucosylceramidase deficiencySortable tableDisorder name Mutation type Chromosomesee >aucher disease>lucosylceramide +eta9glucosidase deficiencysee >aucher disease>lucosylceramide lipidosissee >aucher disease>lyceric aciduriasee hypero*aluria, primary>lycine encephalopathysee 7onketotic hyperglycinemia>lycolic aciduriasee hypero*aluria, primary>M2 gangliosidosis, type 1see Tay9!achs disease>oiter9deafness syndromesee $endred syndrome>raefe9Csher syndromesee Csher syndrome>ron+lad9!trand+erg syndromesee pseudo*anthoma elasticumSortable tableDisorder name Mutation type Chromosome>uenther porphyriasee congenital erythropoietic porphyria>unther diseasesee congenital erythropoietic porphyria4aemochromatosissee hemochromatosis4allgren syndromesee Csher syndrome4arle/uin type ichthyosis4+ ! diseasesee sickle cell anemia4(4see hypochondroplasia4($see hereditary coproporphyria4ead and +rain malformations4earing disorders and deafnessSortable tableDisorder name Mutation type Chromosome4earing pro+lems in children4GF20see hemochromatosisEtype 24GF2Isee hemochromatosisEtype 24ematoporphyriasee porphyria4eme synthetase deficiencysee erythropoietic protoporphyria4emochromatosessee hemochromatosishemochromatosishemoglo+in M diseasesee methemoglo+inemiaE+eta9glo+in type4emoglo+in ! diseasesee sickle cell anemiahemophiliaSortable tableDisorder name Mutation type Chromosome4G$see hepatoerythropoietic porphyriahepatic 0>T deficiencysee hypero*aluria, primaryhepatoerythropoietic porphyria4epatolenticular degeneration syndromesee )ilson disease4ereditary arthro9ophthalmopathysee !tickler syndrome4ereditary coproporphyria $ /124ereditary dystopic lipidosissee Fa+ry disease4ereditary hemochromatosis ,44(-see hemochromatosis [1]4ereditary hemorrhagic telangiectasia ,44T-4ereditary ?nclusion Iody Myopathysee skeletal muscle regenerationSortable tableDisorder name Mutation type Chromosome4ereditary iron9loading anemiasee 39linked sidero+lastic anemia4ereditary motor and sensory neuropathysee (harcot9Marie9Tooth disease4ereditary motor neuronopathy, type @see distal hereditary motor neuropathy4ereditary multiple e*ostoses4ereditary nonpolyposis colorectal cancer'70 mismatch repair dysfunctionusually in M!42 and M=41 genesusually chromosomes 2and 4ereditary periodic fever syndromesee Mediterranean fever, familial4ereditary $olyposis (olisee familial adenomatous polyposis4ereditary pulmonary emphysemasee alpha 19antitrypsin deficiency4ereditary resistance to activated protein (see factor @ =eiden throm+ophiliaSortable tableDisorder name Mutation type Chromosome4ereditary sensory and autonomic neuropathy type ???see familial dysautonomia4ereditary spastic paraplegiasee infantile9onset ascending hereditary spastic paralysis4ereditary spinal ata*iasee FriedreichAs ata*ia4ereditary spinal sclerosissee FriedreichAs ata*ia4errickAs anemiasee sickle cell anemia4eteroBygous F!MG'see )eissen+acher9OweymPller syndrome4eteroBygous otospondylomegaepiphyseal dysplasiasee )eissen+acher9OweymPller syndrome4e*0 deficiencysee Tay9!achs disease4e*osaminidase 0 deficiencysee Tay9!achs disease4e*osaminidase alpha9su+unit deficiency ,variant I-Sortable tableDisorder name Mutation type Chromosomesee Tay9!achs disease4FG9associated hemochromatosissee hemochromatosis4>$!see $rogeria4ippel9=indau diseasesee von 4ippel9=indau disease4=04see hemochromatosis4M7 @see distal hereditary motor neuropathy4M!7see (harcot9Marie9Tooth disease47$((see hereditary nonpolyposis colorectal cancer47$$see hereditary neuropathy with lia+ility to pressure palsieshomocystinuriaSortable tableDisorder name Mutation type Chromosome4omogentisic acid o*idase deficiencysee alkaptonuria4omogentisic acidurasee alkaptonuria4omoBygous porphyria cutanea tardasee hepatoerythropoietic porphyria4$1see hypero*aluria, primary4$2see hypero*aluria, primary4$0see hyperphenylalaninemia4$#T 9 4ypo*anthine9guanine phosphori+osyltransferase deficiencysee =esch97yhan syndrome4!07 type ???see familial dysautonomia4!07see familial dysautonomiaSortable tableDisorder name Mutation type Chromosome4!79???see familial dysautonomia4uman dermatospara*issee Ghlers%'anlos syndromeEdermatospara*is type4untingtonAs disease T "p15.4utchinson9>ilford progeria syndromesee progeria4yperandrogenism, nonclassic type, due to 219hydro*ylase deficiencysee 219hydro*ylase deficiency4yperchylomicronemia, familialsee lipoprotein lipase deficiency, familial4yperglycinemia with ketoacidosis and leukopeniasee propionic acidemia4yperlipoproteinemia type ?see lipoprotein lipase deficiency, familialhypero*aluria, primaryhyperphenylalaninaemiasee hyperphenylalaninemiaSortable tableDisorder name Mutation type Chromosomehyperphenylalaninemia4ypochondrodysplasiasee hypochondroplasia4ypochondrogenesis4ypochondroplasia "p15.4ypochromic anemiasee 39linked sidero+lastic anemia4ypocupremia, congenitalsee Menkes disease4ypo*anthine phosphori+osyltransferse ,4$#T- deficiencysee =esch97yhan syndrome?04!$see infantile9onset ascending hereditary spastic paralysis?(F syndromesee ?mmunodeficiency, centromere insta+ility and facial anomalies syndrome2J/11.2?diopathic hemochromatosissee hemochromatosis, type Sortable tableDisorder name Mutation type Chromosome?diopathic neonatal hemochromatosissee hemochromatosis, neonatal?diopathic pulmonary hypertensionsee primary pulmonary hypertension?mmune system disorderssee 39linked severe com+ined immunodeficiency?ncontinentia pigmenti $ 3/2:?nfantile cere+ral >aucherAs diseasesee >aucher disease type 2?nfantile >aucher diseasesee >aucher disease type 2infantile9onset ascending hereditary spastic paralysis?nfertilityinherited emphysemasee alpha 19antitrypsin deficiency?nherited human transmissi+le spongiform encephalopathiessee prion diseaseSortable tableDisorder name Mutation type Chromosomeinherited tendency to pressure palsiessee hereditary neuropathy with lia+ility to pressure palsies?nsley90stley syndromesee otospondylomegaepiphyseal dysplasia?ntermittent acute porphyria syndromesee acute intermittent porphyria?ntestinal polyposis9cutaneous pigmentation syndromesee $eutB%Neghers syndrome?$see incontinentia pigmenti?ron storage disordersee hemochromatosis?sodicentric 11see isodicentric 11?nv dup 11/1191"?solated deafnesssee nonsyndromic deafnessNackson9)eiss syndromeN4see 4aemochromatosisEtype 2Sortable tableDisorder name Mutation type ChromosomeNou+ert syndromeN$=!see Nuvenile $rimary =ateral !clerosis0=!2Huvenile amyotrophic lateral sclerosissee 0myotrophic lateral sclerosisEtype 2Nuvenile gout, choreoathetosis, mental retardation syndromesee =esch97yhan syndromeHuvenile hyperuricemia syndromesee =esch97yhan syndromeN)!see Nackson9)eiss syndrome6'see spinal and +ul+ar muscular atrophy6ennedy diseasesee spinal and +ul+ar muscular atrophy6ennedy spinal and +ul+ar muscular atrophysee spinal and +ul+ar muscular atrophy6erasin histiocytosisSortable tableDisorder name Mutation type Chromosomesee >aucher disease6erasin lipoidosissee >aucher disease6erasin thesaurismosissee >aucher diseaseketotic glycinemiasee propionic acidemiaketotic hyperglycinemiasee propionic acidemia6idney diseasessee hypero*aluria, primary6linefelter syndrome6linefelter syndromesee 6linefelter syndrome6niest dysplasia6ra++e disease=acunar dementiaSortable tableDisorder name Mutation type Chromosomesee (0'0!?= syndrome=anger9!aldino achondrogenesissee achondrogenesis, type ??=anger9!aldino dysplasiasee achondrogenesis, type ??=ate9onset 0lBheimer diseasesee 0lBheimer diseaseEtype 2=ate9onset familial 0lBheimer disease ,0'2-see 0lBheimer diseaseEtype 2late9onset 6ra++e disease ,=F6'-see 6ra++e disease=earning 'isorderssee =earning disa+ility=entiginosis, perioralsee $eutB9Neghers syndrome=esch97yhan syndrome=eukodystrophiesSortable tableDisorder name Mutation type Chromosomeleukodystrophy with #osenthal fi+erssee 0le*ander disease=eukodystrophy, spongiformsee (anavan disease=F!see =i9Fraumeni syndrome=i9Fraumeni syndrome=ipase ' deficiencysee lipoprotein lipase deficiency, familial=?$' deficiencysee lipoprotein lipase deficiency, familial=ipidosis, cere+rosidesee >aucher disease=ipidosis, ganglioside, infantilesee Tay9!achs disease=ipoid histiocytosis ,kerasin type-see >aucher diseaselipoprotein lipase deficiency, familialSortable tableDisorder name Mutation type Chromosome=iver diseasessee galactosemia=ou >ehrig diseasesee amyotrophic lateral sclerosis=ouis9Iar syndromesee ata*ia telangiectasia=ynch syndromesee hereditary nonpolyposis colorectal cancer=ysyl9hydro*ylase deficiencysee Ghlers%'anlos syndromeEkyphoscoliosis typeMachado9Noseph diseasesee !pinocere+ellar ata*iaEtype Male +reast cancersee +reast cancerMale genital disordersMale Turner syndromesee 7oonan syndromeMalignant neoplasm of +reastsee +reast cancerSortable tableDisorder name Mutation type Chromosomemalignant tumor of +reastsee +reast cancerMalignant tumor of urinary +laddersee +ladder cancerMammary cancersee +reast cancerMarfan syndrome 11Marker 3 syndromesee fragile 3 syndromeMartin9Iell syndromesee fragile 3 syndromeMc(une%0l+right syndrome 2J /1.291.Mc=eod syndrome 3MG'7?6[2][]' 0$1!1Mediterranean 0nemiasee +eta9thalassemiaMediterranean fever, familialSortable tableDisorder name Mutation type ChromosomeMega9epiphyseal dwarfismsee otospondylomegaepiphyseal dysplasiaMenkea syndromesee Menkes diseaseMenkes diseaseMental retardation with osteocartilaginous a+normalitiessee (offin9=owry syndromeMeta+olic disordersMetatropic dwarfism, type ??see 6niest dysplasiaMetatropic dysplasia type ??see 6niest dysplasiaMethemoglo+inemiaE+eta9glo+in typemethylmalonic acidemiaMF!see Marfan syndromeM40MSortable tableDisorder name Mutation type Chromosomesee (owden syndromeM6see Menkes diseaseMicro syndrome 2/21.Microcephaly $ 1/1 ,0!$M-MM0see methylmalonic acidemiaM76see Menkes diseaseMonosomy 1p5 syndromesee 1p5 deletion syndrome' 1p5monosomy 3see Turner syndromeMotor neuron disease, amyotrophic lateral sclerosissee amyotrophic lateral sclerosisMovement disordersMowat9)ilson syndromeSortable tableDisorder name Mutation type ChromosomeMucopolysaccharidosis ,M$! ?-Mucoviscidosissee cystic fi+rosisMuenke syndromeMulti9?nfarct dementiasee (0'0!?= syndromeMultiple car+o*ylase deficiency, late9onsetsee +iotinidase deficiencyMultiple hamartoma syndromesee (owden syndromeMultiple neurofi+romatosissee neurofi+romatosisMuscular dystrophyMuscular dystrophy, 'uchenne and Iecker typeMyotonia atrophicasee myotonic dystrophyMyotonia dystrophicaSortable tableDisorder name Mutation type Chromosomesee myotonic dystrophymyotonic dystrophyMy*edema, congenitalsee congenital hypothyroidism7ance9?nsley syndromesee otospondylomegaepiphyseal dysplasia7ance9!weeney chondrodysplasiasee otospondylomegaepiphyseal dysplasia7I?01see pantothenate kinase9associated neurodegeneration7eill9'ingwall syndromesee (ockayne syndrome7euro+lastoma, retinalsee retino+lastoma7eurodegeneration with +rain iron accumulation type 1see pantothenate kinase9associated neurodegeneration7eurofi+romatosis type ? 12/11.2Sortable tableDisorder name Mutation type Chromosome7eurofi+romatosis type ??7eurologic diseases7euromuscular disordersneuronopathy, distal hereditary motor, type @see distal hereditary motor neuropathyneuronopathy, distal hereditary motor, with pyramidal featuressee 0myotrophic lateral sclerosisEtype "7iemann9$icksee 7iemann%$ick disease7$0, 7$I, 7$(1, 7$(2,!phingomyelin phosphodiesterase 1!M$'17oack syndromesee $feiffer syndrome7onketotic hyperglycinemiasee >lycine encephalopathy7on9neuronopathic >aucher diseasesee >aucher disease type 17on9phenylketonuric hyperphenylalaninemiasee tetrahydro+iopterin deficiencySortable tableDisorder name Mutation type Chromosomenonsyndromic deafness7oonan syndrome7orr+ottnian >aucher diseasesee >aucher disease type Fchronosissee alkaptonuriaFchronotic arthritissee alkaptonuriaF?see osteogenesis imperfectaFsler9)e+er9#endu diseasesee 4ereditary hemorrhagic telangiectasiaF!MG'see otospondylomegaepiphyseal dysplasiaosteogenesis imperfectaFsteopsathyrosissee osteogenesis imperfectaSortable tableDisorder name Mutation type ChromosomeFsteosclerosis congenitasee achondroplasiaFto9spondylo9megaepiphyseal dysplasiasee otospondylomegaepiphyseal dysplasiaotospondylomegaepiphyseal dysplasiaF*alosissee hypero*aluria, primaryF*aluria, primarysee hypero*aluria, primarypantothenate kinase9associated neurodegeneration$atau !yndrome ,Trisomy 1-$I>' deficiencysee acute intermittent porphyria$(( deficiencysee propionic acidemia$(Tsee porphyria cutanea tardaSortable tableDisorder name Mutation type Chromosome$'Msee Myotonic dystrophyEtype 2$endred syndrome$eriodic diseasesee Mediterranean fever, familial$eriodic peritonitissee Mediterranean fever, familial$eriorificial lentiginosis syndromesee $eutB9Neghers syndrome$eripheral nerve disorderssee familial dysautonomia$eripheral neurofi+romatosissee neurofi+romatosis type ?$eroneal muscular atrophysee (harcot9Marie9Tooth diseasepero*isomal alanine.glyo*ylate aminotransferase deficiencysee hypero*aluria, primary$eutB9Neghers syndromeSortable tableDisorder name Mutation type Chromosome$feiffer syndrome$henylalanine hydro*ylase deficiency diseasesee phenylketonuriaphenylketonuria$heochromocytomasee von 4ippel9=indau disease$ierre #o+in syndrome with fetal chondrodysplasiasee )eissen+acher9OweymPller syndrome$igmentary cirrhosissee hemochromatosis$N!see $eutB9Neghers syndrome$607see pantothenate kinase9associated neurodegeneration$6Csee phenylketonuria$lum+oporphyriasee 0=0 deficiency porphyriaSortable tableDisorder name Mutation type Chromosome$M0see (harcot9Marie9tooth disease$olycystic kidney disease $ 15 ,$6'1- or " ,$6'2-polyostotic fi+rous dysplasiasee Mc(une%0l+right syndrome2J /1.291.polyposis colisee familial adenomatous polyposispolyposis, hamartomatous intestinalsee $eutB9Neghers syndromepolyposis, intestinal, ??see $eutB9Neghers syndromepolyps9and9spots syndromesee $eutB9Neghers syndrome$orpho+ilinogen synthase deficiencysee 0=0 deficiency porphyriaporphyriaporphyrin disordersee porphyriaSortable tableDisorder name Mutation type Chromosome$$4see primary pulmonary hypertension$$F3 deficiencysee variegate porphyria$rader9=a+hart9)illi syndromesee $rader9)illi syndrome$rader9)illi syndromepresenile and senile dementiasee 0lBheimerAs diseaseprimary hemochromatosissee hemochromatosisprimary hyperuricemia syndromesee =esch97yhan syndromeprimary pulmonary hypertensionprimary senile degenerative dementiasee 0lBheimerAs diseaseprion diseaseSortable tableDisorder name Mutation type Chromosomeprocollagen type G'! @??, mutantsee Ghlers%'anlos syndromeEarthrochalasia typeprogeriasee 4utchinson >ilford $rogeria !yndrome$rogeria9like syndromesee (ockayne syndromeprogeroid nanismsee (ockayne syndromeprogressive chorea, chronic hereditary ,4untington-see 4untingtonAs diseaseprogressively deforming osteogenesis imperfecta with normal scleraesee Fsteogenesis imperfectaEType ???$#FMMsee Myotonic dystrophyEtype 2propionic acidemiapropionyl9(o0 car+o*ylase deficiencysee propionic acidemiaprotein ( deficiencySortable tableDisorder name Mutation type Chromosomeprotein ! deficiencyprotoporphyriasee erythropoietic protoporphyriaprotoporphyrinogen o*idase deficiencysee variegate porphyriapro*imal myotonic dystrophysee Myotonic dystrophyEtype 2pro*imal myotonic myopathysee Myotonic dystrophyEtype 2pseudo9>aucher diseasepseudo9Cllrich9Turner syndromesee 7oonan syndromepseudo*anthoma elasticumpsychosine lipidosissee 6ra++e diseasepulmonary arterial hypertensionsee primary pulmonary hypertensionSortable tableDisorder name Mutation type Chromosomepulmonary hypertensionsee primary pulmonary hypertension$)!see $rader9)illi syndrome$3G 9 pseudo*anthoma elasticumsee pseudo*anthoma elasticum#+see retino+lastoma#ecklinghausen disease, nervesee neurofi+romatosis type ?#ecurrent polyserositissee Mediterranean fever, familial#etinal disorders#etinitis pigmentosa9deafness syndromesee Csher syndrome#etino+lastoma#ett syndromeSortable tableDisorder name Mutation type Chromosome#F0=! type see 0myotrophic lateral sclerosisEtype 2#icker syndromesee Myotonic dystrophyEtype 2#iley9'ay syndromesee familial dysautonomia#oussy9=evy syndromesee (harcot9Marie9Tooth disease#!T!see #u+instein9Tay+i syndrome#T!see #ett syndromesee #u+instein9Tay+i syndrome#TTsee #ett syndrome#u+instein9Tay+i syndrome!ack9Iara+as syndromesee Ghlers%'anlos syndrome, vascular type!0''07Sortable tableDisorder name Mutation type Chromosomesarcoma family syndrome of =i and Fraumenisee =i9Fraumeni syndromesarcoma, +reast, leukemia, and adrenal gland ,!I=0- syndromesee =i9Fraumeni syndrome!I=0 syndromesee =i9Fraumeni syndrome!IM0see spinal and +ul+ar musclular atrophy!('see sickle cell anemia!chwannoma, acoustic, +ilateralsee neurofi+romatosis type ??!chwartB%Nampel syndrome!(?'31see 39linked severe com+ined immunodeficiencysclerosis tu+erosasee tu+erous sclerosis!'0TSortable tableDisorder name Mutation type Chromosomesee 0lBheimerAs disease!G' congenitasee spondyloepiphyseal dysplasia congenita!G' !trudwicksee spondyloepimetaphyseal dysplasia, !trudwick type!G'csee spondyloepiphyseal dysplasia congenita!GM', !trudwick typesee spondyloepimetaphyseal dysplasia, !trudwick typesenile dementiasee 0lBheimer diseaseEtype 2severe achondroplasia with developmental delay and acanthosis nigricanssee !0''07!hprintBen syndromesee 22/11.2 deletion syndrome' 22/sickle cell anemia ' 1:/!iderius 39linked mental retardation syndromecaused by mutations in the PHF8 gene$' 3p11.22Sortable tableDisorder name Mutation type Chromosomeskeleton9skin9+rain syndromesee !0''07!kin pigmentation disorders!M0see spinal muscular atrophy!MG', !trudwick typesee spondyloepimetaphyseal dysplasia, !trudwick type!MG', type ?see spondyloepimetaphyseal dysplasia, !trudwick type!mith9=emli9FpitB syndrome!mith Magenis !yndrome!outh90frican genetic porphyriasee variegate porphyriaspastic paralysis, infantile onset ascendingsee infantile9onset ascending hereditary spastic paralysis!peech and communication disorderssphingolipidosis, Tay9!achsSortable tableDisorder name Mutation type Chromosomesee Tay9!achs diseasespinal and +ul+ar muscular atrophyspinal muscular atrophyspinal muscular atrophy, distal type @see distal hereditary motor neuropathyspinal muscular atrophy, distal, with upper lim+ predominancesee distal hereditary motor neuropathyspinocere+ellar ata*iaspondyloepimetaphyseal dysplasia, !trudwick typespondyloepiphyseal dysplasia congenitaspondyloepiphyseal dysplasiasee collagenopathy, types ?? and 3?spondylometaepiphyseal dysplasia congenita, !trudwick typesee spondyloepimetaphyseal dysplasia, !trudwick typespondylometaphyseal dysplasia ,!M'-Sortable tableDisorder name Mutation type Chromosomesee spondyloepimetaphyseal dysplasia, !trudwick typespondylometaphyseal dysplasia, !trudwick typesee spondyloepimetaphyseal dysplasia, !trudwick typespongy degeneration of central nervous systemsee (anavan diseasespongy degeneration of the +rainsee (anavan diseasespongy degeneration of white matter in infancysee (anavan diseasesporadic primary pulmonary hypertensionsee primary pulmonary hypertension!!I syndromesee !0''07steely hair syndromesee Menkes disease!teinert diseasesee myotonic dystrophy!teinert myotonic dystrophy syndromesee myotonic dystrophySortable tableDisorder name Mutation type Chromosome!tickler syndromestrokesee (0'0!?= syndrome!trudwick syndromesee spondyloepimetaphyseal dysplasia, !trudwick typesu+acute neuronopathic >aucher diseasesee >aucher disease type !wedish genetic porphyriasee acute intermittent porphyria!wedish porphyriasee acute intermittent porphyria!wiss cheese cartilage dysplasiasee 6niest dysplasiaTay9!achs diseaseT' 9 thanatophoric dwarfismsee thanatophoric dysplasiaT' with straight femurs and cloverleaf skullsee thanatophoric dysplasiaEType 2Sortable tableDisorder name Mutation type ChromosomeTelangiectasia, cere+ello9oculocutaneoussee ata*ia telangiectasiaTesticular feminiBation syndromesee androgen insensitivity syndrometetrahydro+iopterin deficiencyTFM 9 testicular feminiBation syndromesee androgen insensitivity syndromethalassemia intermediasee +eta9thalassemiaThalassemia MaHorsee +eta9thalassemiathanatophoric dysplasiaThrom+ophilia due to deficiency of cofactor for activated protein (, =eiden typesee factor @ =eiden throm+ophiliaThyroid diseaseTomaculous neuropathysee hereditary neuropathy with lia+ility to pressure palsiesSortable tableDisorder name Mutation type ChromosomeTotal 4$#T deficiencysee =esch97yhan syndromeTotal hypo*anthine9guanine phosphori+osyl transferase deficiencysee =esch97yhan syndromeTransmissi+le dementiassee prion diseaseTransmissi+le spongiform encephalopathiessee prion diseaseTreacher (ollins syndrome 1/29/.1Trias fragilitis ossiumsee osteogenesis imperfectaEType ?triple 3 syndrome 3Triplo 3 syndromesee triple 3 syndrome3Trisomy 21see 'own syndromeTrisomy 3see triple 3 syndrome3Sortable tableDisorder name Mutation type ChromosomeTroisier94anot9(hauffard syndromesee hemochromatosisT!see Turner syndromeT!'see Tay9!achs diseaseT!Gssee prion diseasetu+erose sclerosissee tu+erous sclerosistu+erous sclerosisTurner syndrome 3Turner syndrome in female with 3 chromosomesee 7oonan syndromeTurnerAs phenotype, karyotype normalsee 7oonan syndromeTurnerAs syndromesee Turner syndrome3Sortable tableDisorder name Mutation type ChromosomeTurner9like syndromesee 7oonan syndromeType 2 >aucher diseasesee >aucher disease type 2Type>aucher diseasesee >aucher disease type C'$9galactose9"9epimerase deficiency diseasesee galactosemiaC'$ glucose "9epimerase deficiency diseasesee galactosemiaC'$ glucose he*ose919phosphate uridylyltransferase deficiencysee galactosemiaCllrich97oonan syndromesee 7oonan syndromeCllrich9Turner syndromesee Turner syndromeCndifferentiated deafnesssee nonsyndromic deafnessSortable tableDisorder name Mutation type ChromosomeC$! deficiencysee acute intermittent porphyriaCrinary +ladder cancersee +ladder cancerC#F' deficiencysee porphyria cutanea tardaCroporphyrinogen decar+o*ylase deficiencysee porphyria cutanea tardaCroporphyrinogen synthase deficiencysee acute intermittent porphyriaC#F! deficiencysee congenital erythropoietic porphyriaCsher syndromeCT$ he*ose919phosphate uridylyltransferase deficiencysee galactosemia@an Iogaert9Iertrand syndromesee (anavan disease@an der 4oeve syndromesee osteogenesis imperfectaEType ?Sortable tableDisorder name Mutation type Chromosomevariegate porphyria@elocardiofacial syndromesee 22/11.2 deletion syndrome' 22/@4= syndromesee von 4ippel9=indau disease@ision impairment and +lindnesssee 0lstrDm syndrome@on Iogaert9Iertrand diseasesee (anavan diseasevon 4ippel9=indau disease@on #ecklenhausen90pple+aum diseasesee hemochromatosisvon #ecklinghausen diseasesee neurofi+romatosis type ?@$see variegate porphyria@rolik diseasesee osteogenesis imperfectaSortable tableDisorder name Mutation type Chromosome)aarden+urg syndrome)ar+urg !Ho Fledelius !yndromesee Micro syndrome2/21.)'see )ilson disease)eissen+acher9OweymPller syndrome)illiams !yndrome)ilson disease)ilsonAs diseasesee )ilson disease)olf%4irschhorn syndrome ' "p)olff $eriodic diseasesee Mediterranean fever, familial)O!see )eissen+acher9OweymPller syndrome3eroderma pigmentosum G#((" 11Sortable tableDisorder name Mutation type Chromosome39linked mental retardation and macroorchidismsee fragile 3 syndrome339linked primary hyperuricemiasee =esch97yhan syndrome339linked severe com+ined immunodeficiency 339linked sidero+lastic anemia 339linked spinal9+ul+ar muscle atrophysee spinal and +ul+ar muscular atrophy339linked uric aciduria enByme defectsee =esch97yhan syndrome339!(?'see 39linked severe com+ined immunodeficiency33=!0see 39linked sidero+lastic anemia33!(?'see 39linked severe com+ined immunodeficiency3333 syndromesee triple 3 syndrome3Sortable tableDisorder name Mutation type Chromosome3333 syndromesee ":, 3333333333 syndromesee "L, 33333333< syndromesee 6linefelter syndrome333< trisomysee 6linefelter syndrome33