List of genetic disorders

Last updated

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

Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on G banding. Each row is vertically aligned at centromere level. It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left).
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Further information: Karyotype Human karyotype with bands and sub-bands.png
Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on G banding. Each row is vertically aligned at centromere level. It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left).
Duchenne muscular dystrophy Duchenne-muscular-dystrophy.jpg
Duchenne muscular dystrophy
A cherry red spot, which can be a feature of several storage disorders, including Tay-Sachs disease Tay-sachsUMich.jpg
A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease
Angelman syndrome 15 bDCP
Canavan disease 17p
Charcot–Marie–Tooth disease 17p12 [1] Dup
Color blindness XP
Cri du chat syndrome 5D
Cystic fibrosis 7qP
DiGeorge syndrome 22qD
Down syndrome 21C
Duchenne muscular dystrophy XpD
Familial hypercholesterolemia 19P
Haemochromatosis type 1 6P
Hemophilia XP
Klinefelter syndrome XC
Neurofibromatosis 17q/22q/?
Phenylketonuria 12qP
Polycystic kidney disease 16 (PKD1) or 4 (PKD2)P
Prader–Willi syndrome 15DCP
Scheuermann's disease 1q21-q22 or 7q22
Sickle cell disease 11pP
Spinal muscular atrophy 5qDP
Tay–Sachs disease 15P
Turner syndrome XC

Full genetic disorders list

DisorderChromosome or geneTypeReferencePrevalence
1p36 deletion syndrome 1D1:7,500
1q21.1 deletion syndrome 1q21.1D
2q37 deletion syndrome 2q37D
5q deletion syndrome 5qD
5,10-methenyltetrahydrofolate synthetase deficiency MTHFS [2]
17q12 microdeletion syndrome 17q12 [3] [4] 1:14,000-62,500
17q12 microduplication syndrome 17q12 [5]
18p deletion syndrome 18pD1:50,000
21-hydroxylase deficiency 6p21.3recessive1:15,000
Alpha 1-antitrypsin deficiency 14q32 co-dominant,1:2,500-5,000
AAA syndrome (achalasia–addisonianism–alacrima syndrome) AAAS recessive [6] 1:1,000,000
Aarskog–Scott syndrome FGD1 X-linked recessive1:25,000
ABCD syndrome EDNRB recessive1:18,000-20,000
Absence deformity of leg-cataract syndrome
Aceruloplasminemia CP (3p26.3)recessive1:2,000,000
Acheiropodia LMBR1 recessive
Achondrogenesis type II COL2A1 (12q13.11)dominant1:40,000-60,000
achondroplasia FGFR3 (4p16.3)dominant1:27,500
Acute intermittent porphyria HMBS dominant and recessive forms1:500-50,000
Adenylosuccinate lyase deficiency ADSL recessive
Adrenoleukodystrophy ABCD1 (X)recessive1:17,000
Alagille syndrome JAG1, NOTCH2 dominant [7] 1:30,000-50,000
ADULT syndrome TP63 dominant
Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000
Albinism 1:18,000-20,000
Alexander disease GFAP 1:15,600,000
Alfi's syndrome 9pmonosomy1:50,000
alkaptonuria HGD 1:250,000-1,000,000
Alport syndrome 10q26.13 COL4A3, COL4A4 , and COL4A5 1:5,000-10,000
Alternating hemiplegia of childhood ATP1A3 1:1,000,000
Aortic arch anomaly - peculiar facies - intellectual disability dominant
Amish lethal microcephaly SLC25A19 recessive
Amyotrophic lateral sclerosisFrontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000
Angel-shaped phalango-epiphyseal dysplasia GDF5 dominant
Alström syndrome ALMS1 1:8,600,000
Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177
Amelogenesis imperfecta 1:14,000
Aminolevulinic acid dehydratase deficiency porphyria ALAD 1:780,000,000
Androgen insensitivity syndrome 1:20,000-50,000
Angelman syndrome UBE3A 1:12,000-20,000
Aphalangy-syndactyly-microcephaly syndrome dominant
Apert syndrome FGFR2 1:65,000-80,000
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000
Ataxia telangiectasia ATM 1:40,000-1,000,000
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6 1:200,000
Bainbridge–Ropers syndrome ASXL3 de novo
Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2 1:390,000,000
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000
Benjamin syndrome 1:20,000,000
biotinidase deficiency BTD 1:110,000,000
Björnstad syndrome BCS1L 1:260,000,000
Blepharophimosis intellectual disability syndromes
Bloom syndrome 15q26.11:480,000
Birt–Hogg–Dubé syndrome 17 FLCN 1:19,500,000
Brody myopathy ATP2A1 1:10,000,000
Brunner syndrome MAOA 1:500,000,000
CADASIL syndrome NOTCH3 P1:156,000,000
Cat eye syndrome 221:74,000
CRASIL syndrome HTRA1 1:156,000,000
Chronic granulomatous disorder 1:200,000
Campomelic dysplasia X 17q24.3–q25.1C1:40,000-200,000
Camptodactyly-taurinuria syndrome dominant
Canavan disease ASPA 1:6,400-13,500
Carpenter Syndrome RAB23 1:1,000,000
CDKL5 deficiency disorder CDKL5 [8] 1:40,000-60,000 [8]
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29 <1:1,000,000 [9]
Cleft palate short stature vertebral anomalies syndrome
Combined malonic and methylmalonic aciduria (CMAMMA) ACSF3 recessive [10] [11] 1:30,000 [10]
Combined malonic and methylmalonic aciduria (CMAMMA) MLYCD recessive
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome recessive
Cystic fibrosis CFTR (7q31.2)D or S [12] 1:100,000
Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500
CHARGE syndrome CHD7 1:8,500-10,000
Chédiak–Higashi syndrome LYST recessive1:39,000,000
Chondrodysplasia, Grebe type GDF5 autosomal recessive [13]
Cleidocranial dysostosis RUNX2 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, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1
Congenital Muscular Dystrophy multipledominant or recessive [14]
Corneal dystrophy-perceptive deafness syndrome SLC4A11 autosomal recessive [15]
Cornelia de Lange syndrome (CDLS) HDAC8, SMC1A, NIPBL, SMA3, RAD21 1:10,000-30,000
Cowden syndrome PTEN 1:200,000
CPO deficiency (coproporphyria) CPOX
Cranio-lenticulo-sutural dysplasia 14q13–q21
Cri du chat 5p15.2D [16] [17] 1:37,000-50,000
Crohn's disease 16q12P
Crouzon syndrome FGFR2, FGFR3 1.6:100,000
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR3 1:1,000,000
Currarino syndrome HLXB9 dominant1:100,000
Darier's disease ATP2A2 1:30,000-100,000
Dent's disease (Genetic hypercalciuria)Xp11.22 CLCN5, OCRL
Denys–Drash syndrome WT1
De Grouchy syndrome 18qD
Down Syndrome 21C1:1,000-1,100
1:1,200 (U.S.)
DiGeorge syndrome 22q11.2D1:4,000
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1
Distal muscular dystrophy Dysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknownDominant or recessive [18]
Duchenne muscular dystrophy Dystrophin X-linked recessive [19]
Dravet syndrome SCN1A, SCN2A 1:20,000-40,000
Ectrodactyly-polydactyly syndrome
Edwards Syndrome 18trisomy1:5,000
Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE dominant1:5,000
Emanuel syndrome 11, 22partial trisomy
Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Epidermolysis bullosa KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1 dominant or recessive [20] [21] 11.08:1,000,000
Erythropoietic protoporphyria FECH 1:75,000-200,000
Fabry disease GLA (Xq22.1)P1:117,000-476,000
Factor V Leiden thrombophilia
Fatal familial insomnia PRNP dominant
Familial adenomatous polyposis APC 1:10,000-15,000
Familial dysautonomia IKBKAP
Familial Creutzfeld–Jakob Disease PRNP dominant
Familial episodic pain syndrome TRPA1, SCN10A, SCN11A dominant
Familial thoracic aortic aneurysm and aortic dissection FOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11 dominant
Feingold syndrome MYCN
FG syndrome MED12
FBXW7 neurodevelopmental syndrome FBXW7
Fibular aplasia-ectrodactyly syndrome dominant
Fine-Lubinsky syndrome MAF recessive
Fragile X syndrome FMR1 T1:4,000 males

1:8,000 females

Friedreich's ataxia FXN T1:50,000 (U.S.)
G6PD deficiency
Galactosemia GALT, GALK1, GALE
Gaucher disease GBA (1)1:20,000
Gerstmann–Sträussler–Scheinker syndrome PRNP dominant
Gillespie syndrome PAX6
Glutaric aciduria, type I and type 2 GCDH, ETFA, ETFB, ETFDH recessive
GRACILE syndrome BCS1L
GRIN2B-related neurodevelopmental disorder GRIN2B
Griscelli syndrome MYO5A, RAB27A, MLPH
Gustavson syndrome
Hailey–Hailey disease ATP2C1 (3)
Harlequin type ichthyosis ABCA12
Hemochromatosis type 1 HFE (chromosome 6)recessive.1:200 (Northern Europe), 1:300 (Northern America)
Hemochromatosis type 2A HJV (or HFE2A) (chromosome 1)recessive
Hemochromatosis type 2B HAMP (or HFE2B) (chromosome 19)recessive
Haemochromatosis type 3 TFR2 (or HFE3) (chromosome 7)recessive
Hemochromatosis type 4 SLC40A1 (or HFE4) (chromosome 2)dominant
Hemochromatosis type 5 FTH1 (chromosome 11)dominant
Hemophilia FVIII 1:7,500 males (hemophilia A)

1:40,000 males (hemophilia B)

Hepatoerythropoietic porphyria UROD
Hereditary coproporphyria 3q12P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4 1:5,000 [22]
Hereditary inclusion body myopathy GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostoses EXT1, EXT2, EXT3 1:50,000
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1

autosomal dominant, autosomal recessive or X-linked recessive

Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 1:500,000
Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22
Heterotaxy NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
Homocystinuria CBS (gene) recessive [23]
Huntington's disease chromosome 4 HTT gene autosomal dominant 1:10,000 in USA
Hunter syndrome IDS 1:100,000-150,000 males
Hurler syndrome IDUA1:100,000
Hutchinson–Gilford progeria syndrome LMNA 1:18,000,000
Hyperlysinemia AASS recessive
Hyperoxaluria, primary AGXT, GRHPR, DHDPSL
Hyperphenylalaninemia 12q
Hypoalphalipoproteinemia (Tangier disease) ABCA1
Hypochondrogenesis COL2A1
Hypochondroplasia FGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)20q11.2
Incontinentia pigmenti IKBKG (Xq28)P
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MED17 recessive
Ischiopatellar dysplasia TBX4 dominant
Isodicentric 15 15q11–14Inv dup1:30,000 [24]
PRICKLE1-related progressive myoclonus epilepsy with ataxia PRICKLE1 dominant or recessive
Jackson–Weiss syndrome FGFR2
Jacobsen syndrome 111:100,000
Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile-onset dystonia ACTB, IMPDH2 dominant
Juvenile primary lateral sclerosis (JPLS) ALS2
Keloid disorder
KIF1A-Associated Neurological Disorder KIF1A (2q37.3)Dominant Negative
Kleefstra syndrome 9q34D
Kniest dysplasia COL2A1 1:1,000,000
Kosaki overgrowth syndrome PDGFRB
Krabbe disease GALC 1:100,000
Kufor–Rakeb syndrome ATP13A2
LCAT deficiency LCAT
Lesch–Nyhan syndrome HPRT (X)1:380,000
Li–Fraumeni syndrome TP53
Limb-Girdle Muscular Dystrophy Multipledominant or recessive [25] [26] 1:14,500-123,000
Lynch syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3 1:279
lipoprotein lipase deficiency recessive1:1,000,000
Malignant hyperthermia RYR1 (19q13.2)dominant1:5,000-100,000
Maple syrup urine disease BCKDHA, BCKDHB, DBT, DLD recessive
Marfan syndrome 15dominant1:5,000-10,000
Maroteaux–Lamy syndrome ARSB recessive1:43,261-1,505,160
McCune–Albright syndrome 20 q13.2–13.31:100,000-1,000,000
McLeod syndrome XK (X)0.5-1:100,000
MEDNIK syndrome AP1S1 D [27] [28]
Mediterranean fever, familial MEFV
Menkes disease ATP7A (Xq21.1)1:100,000-250,000
Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive1:48,000
Micro syndrome RAB3GAP (2q21.3)
Microcephaly ASPM (1q31)P
Miller-Dieker syndrome 17p13.3D1:100,000
Morquio syndrome GALNS, GLB1 1:200,000-300,000
Mowat–Wilson syndrome ZEB2 (2)
Muenke syndrome FGFR3 1:30,000
Multiple endocrine neoplasia type 1 (Wermer's syndrome) MEN1 dominant
Multiple endocrine neoplasia type 2 RET dominant
Muscular dystrophy multipleAR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy MSTN
myotonic dystrophy DMPK, CNBP dominant or T1:8,000
Natowicz syndrome HYAL1 <1:1,000,000
Neurofibromatosis type I 17q11.2
Neurofibromatosis type II NF2 (22q12.2)
Niemann–Pick disease SMPD1, NPA, NPB, NPC1, NPC2 1:250,000 (types A and B)

1:150,000 (type C)

Nonketotic hyperglycinemia GLDC, AMT, GCSH recessive1:60,000
Nonsyndromic deafness
Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL dominant1:1,000
Norman–Roberts syndrome RELN recessive
Ogden syndrome XP
Omenn syndrome RAG1, RAG2 recessive
Osteogenesis imperfecta COL1A1, COL1A2, IFITM5 dominant1:15,000-20,000
Ostravik-Lindemann-Solberg syndrome 2p15autosomal recessive [29]
Pantothenate kinase-associated neurodegeneration PANK2 (20p13–p12.3)recessive1-3:1,000,000
Patau syndrome (Trisomy 13)13trisomy
PCC deficiency (propionic acidemia) PC recessive1:250,000
Porphyria cutanea tarda (PCT) UROD dominant1:10,000
Pendred syndrome PDS (7)recessive
Peutz–Jeghers syndrome STK11 dominant1:25,000-300,000
Pfeiffer syndrome FGFR1, FGFR2 dominant1:100,000
Phelan-McDermid syndrome 22q13D
Phenylketonuria PAH recessive1:12,000
Pipecolic acidemia AASDHPPT recessive
Pitt–Hopkins syndrome TCF4 (18)dominant, de novo1:11,000-41,000
Polycystic kidney disease PKD1 (16) or PKD2 (4)P
Polycystic ovary syndrome (PCOS)
Porphyria 1-100:50,000
Prader–Willi syndrome 15paternal imprinting1:10,000-30,000
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive1:32,000
Primary pulmonary hypertension
Protein C deficiency PROC dominant [30] 1:20,000
Protein S deficiency PROS1 dominant
Proximal 18q deletion syndrome 18qD
Pseudo-Gaucher disease
Pseudoxanthoma elasticum ABCC6 recessive1:25,000
Retinitis pigmentosa RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRXdominant or recessive1:4,000
Rett syndrome MECP2 dominant, often de novo1:8,500 females
Roberts syndrome ESCO2 recessive
Rubinstein–Taybi syndrome (RSTS) CREBBP dominant1:125,000-300,000
Sandhoff disease HEXB recessive
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS 1:70,000
Scheuermann's disease 1q21-q22 or 7q22autosomal dominant1:45
Schwartz–Jampel syndrome HSPG2 recessive
Sjogren-Larsson syndrome ALDH3A2 Autosomal-recessive , ,
Skin fragility-woolly hair-palmoplantar keratoderma syndrome DSP
Spondyloepiphyseal dysplasia congenita (SED) COL2A1 dominant
Shprintzen–Goldberg syndrome FBN1 dominant
Sickle cell anemia 11p15P
Siderius X-linked mental retardation syndrome PHF8 X-Linked Recessive


Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sly syndrome GUSB recessive1:250,000
Smith–Lemli–Opitz syndrome DHCR7 recessive1:20,000-60,000
Smith–Magenis syndrome 17p11.2dominant1:15,000-25,000
Snyder–Robinson syndrome Xp21.3-p22.12recessive<1:1,000,000
Spinal muscular atrophy 5q1:10,000
Spinocerebellar ataxia (types 1–29) ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 dominant, recessive or T
Split hand split foot-nystagmus syndrome dominant
SSB syndrome (SADDAN) FGFR3 dominant
Stargardt disease (macular degeneration) ABCA4, CNGB3, ELOVL4, PROM1 dominant or recessive1-1.28:10,000
Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1 dominant or recessive1:7,500-9,000 (U.S.)
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1 dominant
Tay–Sachs disease HEXA (15)recessive
Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive
Thanatophoric dysplasia FGFR3 dominant1:60,000
Thickened earlobes-conductive deafness syndrome
Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D)dominant1:50,000
Tuberous sclerosis complex (TSC) TSC1, TSC2 dominant7-12:100,000
Turner syndrome Xmonosomy1:2,000-2,500 live female births
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1recessive3-6:100,000 (type I)
Variegate porphyria PPOX dominant
Viljoen-Kallis-Voges syndrome recessive
von Hippel–Lindau disease VHL dominant1:36,000
von Willebrand disease VWF dominant1:10,000
Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant1:42,000
Warkany syndrome 2 8trisomy
Weissenbacher–Zweymüller syndrome COL11A2 recessive
Weyer's ulnar ray/oligodactyly syndrome recessive
Williams syndrome 7q11.23dominant1:10,000
Wilson disease ATP7B recessive1:30,000
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35)recessive
Wolf–Hirschhorn syndrome 4p16.3dominant, often de novo1:50,000
Xeroderma pigmentosum 15 ERCC4 recessive
X-linked intellectual disability and macroorchidism (fragile X syndrome)X
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy)X
Xp11.2 duplication syndromeXp11.2D


X-linked severe combined immunodeficiency (X-SCID)X
X-linked sideroblastic anemia (XLSA) ALAS2 (X)
47,XXX ( triple X syndrome)XC1:1,000 females
XXXX syndrome ( 48, XXXX)X1:50,000 females
XXXXX syndrome ( 49,XXXXX)X1:85,000-250,000 females
XXXXY syndrome ( 49,XXXXY)X1:85,000-100,000 males
XYY syndrome ( 47,XYY)Y1:1,000 male births
XXYY syndrome ( 48,XXYY)X, Y1:18,000-40,000 males
XYYY syndrome ( 48,XYYY)Y
XXXY syndrome ( 48,XXXY)X1:50,000 males
XYYYY syndrome ( 49,XYYYY)Y1:1,000,000 males
Zellweger syndrome PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 recessive

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Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.

<span class="mw-page-title-main">Emery–Dreifuss muscular dystrophy</span> Medical condition

Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement, causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden cardiac death. It is rare, affecting 0.39 per 100,000 people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.

<span class="mw-page-title-main">Gray platelet syndrome</span> Medical condition

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. The name derives from the initial observation of gray appearance of platelets with a paucity of granules on blood films from a patient with a lifelong bleeding disorder.

<span class="mw-page-title-main">Ullrich congenital muscular dystrophy</span> Medical condition

Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.

Hyperglycerolemia, also known as glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body. Excess amounts of glycerol can be found in the blood and/ or urine. Hyperglycerolmia occurs more frequently in males. Hyperglycerolemia is listed as a "rare disease", which means it affects less than 200,000 people in the US population, or less than about 1 in 1500 people.

Leigh syndrome, French Canadian type, also known as congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, is a rare mitochondrial disorder which is characterized by regular metabolic acidosis, hypotonia, developmental delays and facial dysmorphy. It's associated with mutations in a gene in chromosome 2. Approximately 100 cases of this syndrome have been reported in medical literature.

Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.

<span class="mw-page-title-main">Waardenburg anophthalmia syndrome</span> Medical condition

Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. So far, 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide. This condition is caused by homozygous mutations in the SMOC1 gene, in chromosome 14.

<span class="mw-page-title-main">Otofaciocervical syndrome</span> Medical condition

Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.

<span class="mw-page-title-main">Boucher-Neuhäuser syndrome</span> Medical condition

Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism.

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. It has been described in eight individuals of which seven came from Finnmark County, Norway. Inheritance pattern is thought to be autosomal recessive.

<span class="mw-page-title-main">Amaurosis congenita, cone-rod type, with congenital hypertrichosis</span> Medical condition

Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a very rare genetic disorder which is characterized by ocular anomalies and trichomegaly. It is inherited in an autosomal recessive manner. Only 2 cases have been described in medical literature.

<span class="mw-page-title-main">Spondylometaphyseal dysplasia with cone-rod dystrophy</span> Medical condition

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia, neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss. Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3.

<span class="mw-page-title-main">Corneal dystrophy-perceptive deafness syndrome</span> Medical condition

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing loss of post-lingual onset.


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Further reading