The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

Most common

P – Point mutation, or any insertion/deletion entirely inside one gene D – Deletion of a gene or genes Dup - Duplication of a gene or genes C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length

Disorder Chromosome Mutation Angelman syndrome 15q DCP Canavan disease 17p Charcot–Marie–Tooth disease17p12Dup Color blindness X P Cri du chat syndrome 5 D Cystic fibrosis 7q P DiGeorge syndrome 22q D Down syndrome 21 C Duchenne muscular dystrophy Xp DFamilial hypercholesterolemia19P Haemochromatosis type 1 6 P Hemophilia X P Klinefelter syndrome X C Neurofibromatosis 17q/22q/? Phenylketonuria 12q P Polycystic kidney disease 16 (PKD1) or 4 (PKD2) P Prader–Willi syndrome 15qDCPScheuermann's disease1q21-q22 or 7q22 Sickle cell disease 11p P Spinal muscular atrophy 5q DP Tay–Sachs disease 15q P Trisomy X X C Turner syndrome X C

Full genetic disorders list DisorderChromosome or geneTypeReferencePrevalence 1p36 deletion syndrome 1 D 1:5,000-10,0001q21.1 deletion syndrome1q21.1D 1:6,5002q37 deletion syndrome2q37D <1:1,000,0005q deletion syndrome5qD 1:20,0005,10-methenyltetrahydrofolate synthetase deficiencyMTHFS7p22.1 microduplication syndrome7p22.1 <1:1,000,00016p11.2 deletion syndrome16p11.2D 1:2,000-1:5,00017q12 microdeletion syndrome17q12 1:14,000-62,50017q12 microduplication syndrome17q12 18p deletion syndrome 18p D 1:50,000 21-hydroxylase deficiency 6p21.3 recessive 1:15,000 Alpha 1-antitrypsin deficiency14q32co-dominant, 1:2,500-5,000AAA syndrome (achalasia–addisonianism–alacrima syndrome)AAASrecessive 1:1,000,000Aarskog–Scott syndromeFGD1X-linked recessive 1:25,000ABCD syndromeEDNRB recessive 1:18,000-20,000Absence deformity of leg-cataract syndrome AceruloplasminemiaCP (3p26.3) recessive 1:2,000,000AcheiropodiaLMBR1recessive Achondrogenesis type IICOL2A1 (12q13.11)dominant 1:40,000-60,000 Achondroplasia FGFR3 (4p16.3) dominant 1:27,500 Acute intermittent porphyria HMBS dominant and recessive forms 1:500-50,000 Adenylosuccinate lyase deficiency ADSL recessive Adrenoleukodystrophy ABCD1 (X) recessive 1:17,000 Alagille syndrome JAG1, NOTCH2 dominant 1:30,000-50,000ADULT syndromeTP63dominantAicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000 Albinism 1:18,000-20,000 Alexander disease GFAP 1:15,600,000Alfi's syndrome9pmonosomy1:50,000 Alkaptonuria HGD 1:250,000-1,000,000 Alport syndrome 10q26.13 COL4A3, COL4A4, and COL4A5 1:5,000-10,000Alternating hemiplegia of childhoodATP1A3 1:1,000,000Aortic arch anomaly - peculiar facies - intellectual disabilitydominantAmish lethal microcephalySLC25A19recessive Amyotrophic lateral sclerosis – Frontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000Angel-shaped phalango-epiphyseal dysplasiaGDF5dominant Alström syndrome ALMS1 1:8,600,000 Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177 Amelogenesis imperfecta 1:14,000Aminolevulinic acid dehydratase deficiency porphyriaALAD 1:780,000,000 Androgen insensitivity syndrome 1:20,000-50,000 Angelman syndrome UBE3A 1:12,000-20,000Aphalangy-syndactyly-microcephaly syndromedominantApert syndromeFGFR2 1:65,000-80,000 Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000Arboleda-Tham SyndromeKAT6A(8p11.21)Dominant Ataxia telangiectasia ATM 1:40,000-1,000,000Axenfeld syndromePITX2, FOXO1A, FOXC1, PAX6 1:200,000Bainbridge–Ropers syndromeASXL3 de novo Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2 1:390,000,000Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000 Benjamin syndrome 1:20,000,000 biotinidase deficiency BTD 1:110,000,000Björnstad syndromeBCS1L 1:260,000,000Blepharophimosis intellectual disability syndromes Bloom syndrome 15q26.1 1:480,000 Birt–Hogg–Dubé syndrome 17 FLCN 1:19,500,000Brody myopathyATP2A1 1:10,000,000Brunner syndromeMAOA 1:500,000,000 CADASIL syndrome NOTCH3 P 1:156,000,000Cat eye syndrome221:74,000CATSHL syndromeFGFR3dominant/recessiveCRASIL syndromeHTRA1 1:156,000,000 Chronic granulomatous disorder 1:200,000 Campomelic dysplasia X 17q24.3–q25.1 C 1:40,000-200,000Camptodactyly-taurinuria syndromedominant Canavan disease ASPA 1:6,400-13,500Carpenter syndromeRAB23 1:1,000,000 CDKL5 deficiency disorder CDKL5 1:40,000-60,000 Central diabetes insipidusAVP, PCSK1autosomal dominant, autosomal recessive, X-linked dominant1:25,000 Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29 <1:1,000,000Cleft palate short stature vertebral anomalies syndromeCombined malonic and methylmalonic aciduria (CMAMMA)ACSF3recessive1:30,000Combined malonic and methylmalonic aciduria (CMAMMA)MLYCDrecessiveCongenital muscular dystrophy-infantile cataract-hypogonadism syndromerecessive Cystic fibrosis CFTR (7q31.2) D or S 1:100,000 Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500CHARGE syndrome CHD7 1:8,500-10,000 Chédiak–Higashi syndrome LYSTrecessive 1:39,000,000Chondrodysplasia, Grebe typeGDF5autosomal recessiveCleidocranial dysostosisRUNX2 1:7,800 Cockayne syndrome ERCC6, ERCC8 1:2,600-3,900 Coffin–Lowry syndrome X RPS6KA3 1:40,000-50,000 Cohen syndrome COH1 1:7,800,000 Collagenopathy, types II and XI COL11A1, COL11A2, COL2A1Congenital insensitivity to pain with anhidrosis (CIPA)NTRK1Congenital muscular dystrophymultipledominant or recessiveCorneal dystrophy-perceptive deafness syndromeSLC4A11autosomal recessiveCornelia de Lange syndrome (CDLS)HDAC8, SMC1A, NIPBL, SMA3, RAD211:10,000-30,000Cowden syndromePTEN1:200,000 CPO deficiency (coproporphyria) CPOX Cranio-lenticulo-sutural dysplasia14q13–q21 Cri du chat 5p15.2 D 1:37,000-50,000 Crohn's disease 16q12 P Crouzon syndromeFGFR2, FGFR31.6:100,000 Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR31:1,000,000Currarino syndromeHLXB9dominant1:100,000Darier's diseaseATP2A21:30,000-100,000 Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRLDenys–Drash syndromeWT1De Grouchy syndrome 18q DDHX30 syndrome3dominantDolichonychiaDown syndrome21C1:1,000-1,1001:1,200 (U.S.)DiGeorge syndrome 22q11.2 D1:4,000Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1Distal muscular dystrophyDysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknownDominant or recessiveDuchenne muscular dystrophyDystrophinX-linked recessiveDravet syndromeSCN1A, SCN2A1:20,000-40,000Ectrodactyly-polydactyly syndromeEdwards syndrome18trisomy1:5,000 Ehlers–Danlos syndromeCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSEdominant1:5,000Emanuel syndrome11, 22partial trisomyEmery–Dreifuss syndromeEMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43Epidermolysis bullosaKRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1dominant or recessive 11.08:1,000,000Erythropoietic protoporphyriaFECH1:75,000-200,000Fanconi anemia (FA)FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF1:130,000 Fabry diseaseGLA (Xq22.1) P1:117,000-476,000 Factor V Leiden thrombophilia Fatal familial insomniaPRNPdominant Familial adenomatous polyposisAPC1:10,000-15,000 Familial dysautonomiaIKBKAPFamilial Creutzfeld–Jakob diseasePRNPdominantFamilial episodic pain syndromeTRPA1, SCN10A, SCN11AdominantFamilial thoracic aortic aneurysm and aortic dissectionFOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11dominantFeingold syndromeMYCN FG syndromeMED12FBXW7 neurodevelopmental syndrome FBXW7 Fibular aplasia-ectrodactyly syndromedominantFine-Lubinsky syndromeMAFrecessiveFragile X syndromeFMR1T1:4,000 males 1:8,000 femalesFriedreich's ataxiaFXNT1:50,000 (U.S.) G6PD deficiency X-linked recessive GalactosemiaGALT, GALK1, GALEGaucher diseaseGBA (1)1:20,000Gerstmann–Sträussler–Scheinker syndromePRNPdominantGillespie syndromePAX6Glutaric aciduria, type I and type 2GCDH, ETFA, ETFB, ETFDHrecessiveGRACILE syndromeBCS1LGRIN2B-related neurodevelopmental disorderGRIN2B Griscelli syndromeMYO5A, RAB27A, MLPHGustavson syndromeHailey–Hailey diseaseATP2C1 (3) Harlequin type ichthyosisABCA12Hemochromatosis type 1HFE (chromosome 6) recessive 1:200 (Northern Europe), 1:300 (Northern America)Hemochromatosis type 2AHJV (or HFE2A) (chromosome 1) recessive Hemochromatosis type 2BHAMP (or HFE2B) (chromosome 19) recessiveHaemochromatosis type 3TFR2 (or HFE3) (chromosome 7) recessiveHemochromatosis type 4SLC40A1 (or HFE4) (chromosome 2) dominantHemochromatosis type 5FTH1 (chromosome 11) dominant HemophiliaFVIII1:7,500 males (hemophilia A)