Crs 1


 actin-accumulation myopathy
 adenosine monophosphate deaminase deficiency
 Alagille syndrome
 amelogenesis imperfecta
 amyotrophic lateral sclerosis
 ankylosing spondylitis
 auriculo-condylar syndrome
 autoimmune Addison disease
 autosomal dominant nocturnal frontal lobe epilepsy
 Bartter syndrome
 Charcot-Marie-Tooth disease
 Chediak-Higashi syndrome
 Coffin-Siris syndrome
 Cowden syndrome
 Crohn disease
 Diamond-Blackfan anemia
 Ehlers-Danlos syndrome
 Emery-Dreifuss muscular dystrophy
 familial adenomatous polyposis
 familial hemiplegic migraine
 frontonasal dysplasia
 homocystinuria
 Hutchinson-Gilford progeria syndrome
 Kufs disease
 Leber congenital amaurosis
 leptin receptor deficiency
 Loeys-Dietz syndrome
 Mabry syndrome
 Müllerian aplasia and hyperandrogenism
 Noonan syndrome
 renal tubular dysgenesis
 Robinow syndrome
 Stickler syndrome
 systemic lupus erythematosus
 systemic scleroderma

https://ghr.nlm.nih.gov/
Crs. 2

 Alport syndrome
 amyotrophic lateral sclerosis
 benign recurrent intrahepatic cholestasis
 centronuclear myopathy
 cerebrotendinous xanthomatosis
 cranioectodermal dysplasia
 Crohn disease
 cystinuria
 cytogenetically normal acute myeloid leukemia
 deoxyguanosine kinase deficiency
 Diamond-Blackfan anemia
 dopa-responsive dystonia
 epidermolysis bullosa with pyloric atresia
 episodic ataxia
 erythromelalgia
 Gilbert syndrome
 GRACILE syndrome
 hereditary hemochromatosis
 homocystinuria
 hypercholesterolemia
 intrahepatic cholestasis of pregnancy
 lactose intolerance
 Leydig cell hypoplasia
 Lynch syndrome
 Miyoshi myopathy
 Mowat-Wilson syndrome
 multiple mitochondrial dysfunctions syndrome
 multiple pterygium syndrome
 neuroblastoma
 Perry syndrome
 Peters anomaly
 protein C deficiency
 small fiber neuropathy
 spastic paraplegia type 4
 Waardenburg syndrome
 xeroderma pigmentosum
https://ghr.nlm.nih.gov/

Crs.3

 Adams-Oliver syndrome
 ADCY5-related dyskinesia
 Aicardi-Goutieres syndrome
 alkaptonuria
 aminoacylase 1 deficiency
 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
 autosomal dominant hypocalcemia
 benign chronic pemphigus
 biotinidase deficiency
 blepharophimosis, ptosis, and epicanthus inversus syndrome
 boomerang dysplasia
 Brugada syndrome
 carnitine-acylcarnitine translocase deficiency
 CAV3-related distal myopathy
 cerebral cavernous malformation
 Chanarin-Dorfman syndrome
 CHMP2B-related frontotemporal dementia
 chronic atrial and intestinal dysrhythmia
 combined pituitary hormone deficiency
 congenital myasthenic syndrome
 congenital sucrase-isomaltase deficiency
 cranioectodermal dysplasia
 Diamond-Blackfan anemia
 dilated cardiomyopathy with ataxia syndrome
 dyskeratosis congenita
 Hermansky-Pudlak syndrome
 Kallmann syndrome
 Larsen syndrome
 nonsyndromic deafness
 optic atrophy type 1
 osteogenesis imperfecta
 Perrault syndrome
 Robinow syndrome
 Romano-Ward syndrome
 SOX2 anophthalmia syndrome
 Usher syndrome
 von Hippel-Lindau syndrome
 Waldenström macroglobulinemia

https://ghr.nlm.nih.gov/

Crs.4

 abetalipoproteinemia
 adermatoglyphia
 age-related macular degeneration
 amelogenesis imperfecta
 aspartylglucosaminuria
 asphyxiating thoracic dystrophy
 atypical hemolytic-uremic syndrome
 autosomal dominant congenital stationary night blindness
 Axenfeld-Rieger syndrome
 beta-mannosidosis
 Bietti crystalline dystrophy
 congenital myasthenic syndrome
 core binding factor acute myeloid leukemia
 Crouzonodermoskeletal syndrome
 Ellis-van Creveld syndrome
 facioscapulohumeral muscular dystrophy
 Fraser syndrome
 glutaric acidemia type II
 lacrimo-auriculo-dento-digital syndrome
 methylmalonic acidemia
 mucopolysaccharidosis type I
 Muenke syndrome
 nephronophthisis
 nonsyndromic deafness
 Peters anomaly
 polycystic kidney disease
 prekallikrein deficiency
 progressive external ophthalmoplegia
 pseudohypoaldosteronism type 1
 pulmonary alveolar microlithiasis
 renal hypouricemia
 retinal arterial macroaneurysm with supravalvular pulmonic stenosis
  Romano-Ward syndrome
 SADDAN
 tetrahydrobiopterin deficiency
 thanatophoric dysplasia
 UV-sensitive syndrome
 Weyers acrofacial dysostosis
 Wolf-Hirschhorn syndrome

https://ghr.nlm.nih.gov/

Crs.5

 acute promyelocytic leukemia

 amyotrophic lateral sclerosis
 atelosteogenesis type 2
 CHOPS syndrome
 chylomicron retention disease
 Cockayne syndrome
 congenital contractural arachnodactyly
 Cornelia de Lange syndrome
 craniometaphyseal dysplasia
 Crohn disease
 cytogenetically normal acute myeloid leukemia
 D-bifunctional protein deficiency
 distal myopathy 2
 dopamine transporter deficiency syndrome
 dyskeratosis congenita
 episodic ataxia
 hereditary angioedema
 hereditary hyperekplexia
 hereditary sensory and autonomic neuropathy type II
 lacrimo-auriculo-dento-digital syndrome
 Langerhans cell histiocytosis
 Laron syndrome
 lattice corneal dystrophy type I
 Leigh syndrome
 limb-girdle muscular dystrophy
 Marinesco-Sjögren syndrome
 Milroy disease
 molybdenum cofactor deficiency
 myofibrillar myopathy
 Netherton syndrome
  nonsyndromic paraganglioma
 oculocutaneous albinism
 Paget disease of bone
 Parkes Weber syndrome
 Perrault syndrome
 primary ciliary dyskinesia
 pyridoxine-dependent epilepsy
 Sandhoff disease
 Sotos syndrome
 spinal muscular atrophy
 STING-associated vasculopathy with onset in infancy
 Treacher Collins syndrome
 Usher syndrome
 Wagner syndrome
 Weaver syndrome

Crs.6

 Axenfeld-Rieger syndrome
 Behçet disease
 branchio-oculo-facial syndrome
 Carpenter syndrome
 celiac disease
 Char syndrome
 chordoma
 cleidocranial dysplasia
 Coffin-Siris syndrome
 Cole disease
 critical congenital heart disease
 Dandy-Walker malformation
 Diamond-Blackfan anemia
 factor XIII deficiency
 Graves disease
 Hashimoto thyroiditis
 Huntington disease-like syndrome
 hypermethioninemia
 keratoderma with woolly hair
 Lafora progressive myoclonus epilepsy
 LAMA2-related muscular dystrophy
 MEGDEL syndrome
 methylmalonic acidemia
 multiple epiphyseal dysplasia
 multiple sclerosis
 Nakajo-Nishimura syndrome
  narcolepsy
 nonsyndromic deafness
 oculodentodigital dysplasia
 Peters anomaly
 polycystic kidney disease
 polycystic lipomembranous osteodysplasia with sclerosing
leukoencephalopathy
 pontocerebellar hypoplasia
 porphyria
 progressive pseudorheumatoid dysplasia
 Refsum disease
 rhizomelic chondrodysplasia punctata
 Stargardt macular degeneration
 Stevens-Johnson syndrome/toxic epidermal necrolysis
 Stickler syndrome
 trichohepatoenteric syndrome
 vitelliform macular dystrophy
 Weissenbacher-Zweymüller syndrome
 X-linked sideroblastic anemia

CRS.7

 argininosuccinic aciduria
 Baraitser-Winter syndrome
 cardiofaciocutaneous syndrome
 cerebral cavernous malformation
 Charcot-Marie-Tooth disease
 chronic granulomatous disease
 COG5-congenital disorder of glycosylation
 color vision deficiency
 congenital bilateral absence of the vas deferens
 congenital bile acid synthesis defect type 2
 congenital leptin deficiency
 cystic fibrosis
 cytochrome P450 oxidoreductase deficiency
 dihydrolipoamide dehydrogenase deficiency
 distal hereditary motor neuropathy, type II
 familial hypertrophic cardiomyopathy
 Ghosal hematodiaphyseal dysplasia
 giant congenital melanocytic nevus
 Greig cephalopolysyndactyly syndrome
 hand-foot-genital syndrome
 hereditary hemochromatosis
 hereditary pancreatitis
  hypomyelination and congenital cataract
 intrahepatic cholestasis of pregnancy
 isolated growth hormone deficiency
 Langerhans cell histiocytosis
 lissencephaly with cerebellar hypoplasia
 Lynch syndrome
 mucopolysaccharidosis type VII
 multiple lentigines syndrome
 nonsyndromic deafness
 nonsyndromic holoprosencephaly
 Pallister-Hall syndrome
 Pendred syndrome
 phosphoglycerate mutase deficiency
 progressive familial intrahepatic cholestasis
 Romano-Ward syndrome
 Saethre-Chotzen syndrome
 short QT syndrome
 spondylocostal dysostosis
 supravalvular aortic stenosis
 systemic lupus erythematosus
 Walker-Warburg syndrome
 Williams syndrome
 Zellweger spectrum disorder

CRS. 8

 8p11 myeloproliferative syndrome

 achromatopsia
 amelogenesis imperfecta
 ataxia with vitamin E deficiency
 autosomal dominant nocturnal frontal lobe epilepsy
 Baller-Gerold syndrome
 benign familial neonatal seizures
 branchiootorenal syndrome
 CHARGE syndrome
 Cohen syndrome
 congenital myasthenic syndrome
 core binding factor acute myeloid leukemia
 corticosterone methyloxidase deficiency
 dihydropyrimidinase deficiency
 dystonia 6
 epidermolysis bullosa simplex
 epidermolysis bullosa with pyloric atresia
 familial hyperaldosteronism
  familial idiopathic basal ganglia calcification
 familial lipoprotein lipase deficiency
 Farber lipogranulomatosis
 Graves disease
 Hashimoto thyroiditis
 hereditary multiple exostoses
 hereditary spherocytosis
 juvenile Paget disease
 Kallmann syndrome
 Klippel-Feil syndrome
 Langer-Giedion syndrome
 late-infantile neuronal ceroid lipofuscinosis
 mal de Meleda
 microphthalmia
 mucopolysaccharidosis type III
 Nijmegen breakage syndrome
 Northern epilepsy
 osteoglophonic dysplasia
 Paget disease of bone
 Pfeiffer syndrome
 piebaldism
 pyruvate dehydrogenase deficiency
 RAPADILINO syndrome
 Roberts syndrome
 Rothmund-Thomson syndrome
 spastic paraplegia type 8

crs.9

 17-beta hydroxysteroid dehydrogenase 3 deficiency

 Adams-Oliver syndrome
 autosomal dominant nocturnal frontal lobe epilepsy
 autosomal recessive hyper-IgE syndrome
 Berardinelli-Seip congenital lipodystrophy
 bladder cancer
 cap myopathy
 cartilage-hair hypoplasia
 chorea-acanthocytosis
 citrullinemia
 critical congenital heart disease
 cytochrome c oxidase deficiency
 distal arthrogryposis type 1
 dopamine beta-hydroxylase deficiency
 early-onset primary dystonia
  essential thrombocythemia
 familial dysautonomia
 familial HDL deficiency
 Fanconi anemia
 Friedreich ataxia
 Fukuyama congenital muscular dystrophy
 galactosemia
 geleophysic dysplasia
 glycine encephalopathy
 Gorlin syndrome
 head and neck squamous cell carcinoma
 hereditary fructose intolerance
 hereditary hemorrhagic telangiectasia
 hereditary sensory neuropathy type IA
 hypomagnesemia with secondary hypocalcemia
 inclusion body myopathy 2
 Kleefstra syndrome
 lattice corneal dystrophy type II
 Loeys-Dietz syndrome
 lymphangioleiomyomatosis
 Mabry syndrome
 nail-patella syndrome
 nemaline myopathy
 oculocutaneous albinism
 pontocerebellar hypoplasia
 primary myelofibrosis
 Robinow syndrome
 Sheldon-Hall syndrome
 Tangier disease
 VLDLR-associated cerebellar hypoplasia

crs.10

 age-related macular degeneration

 Apert syndrome
 ataxia neuropathy spectrum
 autoimmune lymphoproliferative syndrome
 autosomal dominant partial epilepsy with auditory features
 Bannayan-Riley-Ruvalcaba syndrome
 Beare-Stevenson cutis gyrata syndrome
 breast cancer
 cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy
 cholesteryl ester storage disease
  CHST3-related skeletal dysplasia
 Cockayne syndrome
 congenital myasthenic syndrome
 Cornelia de Lange syndrome
 Cowden syndrome
 Crouzon syndrome
 Diamond-Blackfan anemia
 Dubin-Johnson syndrome
 familial hemophagocytic lymphohistiocytosis
 familial thoracic aortic aneurysm and dissection
 genitopatellar syndrome
 gyrate atrophy of the choroid and retina
 head and neck squamous cell carcinoma
 Hermansky-Pudlak syndrome
 Hirschsprung disease
 histiocytosis-lymphadenopathy plus syndrome
 hypermethioninemia
 Imerslund-Gräsbeck syndrome
 infantile-onset spinocerebellar ataxia
 Jackson-Weiss syndrome
 junctional epidermolysis bullosa
 juvenile polyposis syndrome
 lacrimo-auriculo-dento-digital syndrome
 multiple endocrine neoplasia
 myofibrillar myopathy
 nonsyndromic deafness
 nonsyndromic paraganglioma
 Ochoa syndrome
 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
 Perrault syndrome
 Pfeiffer syndrome
 Pol III-related leukodystrophy
 renal coloboma syndrome
 tetrahydrobiopterin deficiency

Crs.11

 acatalasemia
 age-related macular degeneration
 Aicardi-Goutieres syndrome
 amelogenesis imperfecta
 aniridia
 asphyxiating thoracic dystrophy
 ataxia-telangiectasia
  autosomal dominant vitreoretinochoroidopathy
 Bardet-Biedl syndrome
 Bartter syndrome
 Beckwith-Wiedemann syndrome
 Berardinelli-Seip congenital lipodystrophy
 beta-ketothiolase deficiency
 CATSPER1-related nonsyndromic male infertility
 cerebral folate transport deficiency
 congenital neuronal ceroid lipofuscinosis
 Costello syndrome
 Cowden syndrome
 cytogenetically normal acute myeloid leukemia
 Denys-Drash syndrome
 distal hereditary motor neuropathy, type V
 dopa-responsive dystonia
 enlarged parietal foramina
 Ewing sarcoma
 familial exudative vitreoretinopathy
 Frasier syndrome
 frontonasal dysplasia
 gastrointestinal stromal tumor
 Gillespie syndrome
 gnathodiaphyseal dysplasia
 head and neck squamous cell carcinoma
 hereditary angioedema
 hereditary multiple exostoses
 hereditary paraganglioma-pheochromocytoma
 horizontal gaze palsy with progressive scoliosis
 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia
congenita, and genital anomalies
 isobutyryl-CoA dehydrogenase deficiency
 Jacobsen syndrome
 Jervell and Lange-Nielsen syndrome
 juvenile Batten disease
 juvenile primary osteoporosis
 osteoporosis-pseudoglioma syndrome
 permanent neonatal diabetes mellitus
 Peters anomaly

Crs.12

 distal arthrogryposis type 1

 distal hereditary motor neuropathy, type II
 Dowling-Degos disease
 epidermolysis bullosa simplex
 epidermolytic hyperkeratosis
 episodic ataxia
 focal palmoplantar keratoderma
 Fraser syndrome
 frontonasal dysplasia
 globozoospermia
 hereditary hypophosphatemic rickets
 hereditary sensory and autonomic neuropathy type II
 histidinemia
 Holt-Oram syndrome
 IRAK-4 deficiency
 isolated lissencephaly sequence
 Joubert syndrome
 Kabuki syndrome
 Klippel-Feil syndrome
 Kniest dysplasia
 lactate dehydrogenase deficiency
 Leber congenital amaurosis
 Legg-Calvé-Perthes disease
 leukoencephalopathy with vanishing white matter
 monilethrix
 mucolipidosis II alpha/beta
 myopathy with deficiency of iron-sulfur cluster assembly enzyme
 nephrogenic diabetes insipidus
 platyspondylic lethal skeletal dysplasia, Torrance type
 Pol III-related leukodystrophy
 PRICKLE1-related progressive myoclonus epilepsy with ataxia
 pseudohypoaldosteronism type 1
 pseudohypoaldosteronism type 2
 Rotor syndrome
 Senior-Løken syndrome
 short-chain acyl-CoA dehydrogenase deficiency
 spinocerebellar ataxia type 2
 spondyloepimetaphyseal dysplasia, Strudwick type
 spondyloepiphyseal dysplasia congenita
 Stickler syndrome
 Timothy syndrome
 triosephosphate isomerase deficiency
 von Willebrand disease
 Warsaw breakage syndrome
 white sponge nevus

crs.13
 8p11 myeloproliferative syndrome
 Aicardi-Goutieres syndrome
 autosomal recessive hypotrichosis
 autosomal recessive spastic ataxia of Charlevoix-Saguenay
 Bart-Pumphrey syndrome
 Clouston syndrome
 COL4A1-related brain small-vessel disease
 core binding factor acute myeloid leukemia
 cytogenetically normal acute myeloid leukemia
 deafness and myopia syndrome
 factor X deficiency
 familial porencephaly
 Fanconi anemia
 Fraser syndrome
 hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
syndrome
 hereditary cerebral amyloid angiopathy
 Hirschsprung disease
 hyperphosphatemic familial tumoral calcinosis
 hystrix-like ichthyosis with deafness
 infantile neuronal ceroid lipofuscinosis
 juvenile Batten disease
 keratitis-ichthyosis-deafness syndrome
 late-infantile neuronal ceroid lipofuscinosis
 limb-girdle muscular dystrophy
 nonsyndromic deafness
 nonsyndromic holoprosencephaly
 ornithine translocase deficiency
 palmoplantar keratoderma with deafness
 Peters plus syndrome
 propionic acidemia
 retinoblastoma
 succinate-CoA ligase deficiency
 Tourette syndrome
 Treacher Collins syndrome
 Troyer syndrome
 Vohwinkel syndrome
 Waardenburg syndrome
 Wilson disease

http://ghr.nlm.nih.gov/chromosome/13/show/Conditions
 crs.14

 achondrogenesis
 age-related macular degeneration
 alpha-1 antitrypsin deficiency
 amyotrophic lateral sclerosis
 anhidrotic ectodermal dysplasia with immune deficiency
 branchiootorenal syndrome
 Charcot-Marie-Tooth disease
 coloboma
 combined pituitary hormone deficiency
 congenital hypothyroidism
 corticosteroid-binding globulin deficiency
 cranioectodermal dysplasia
 cutis laxa
 DICER1 syndrome
 dopa-responsive dystonia
 dyskeratosis congenita
 familial dilated cardiomyopathy
 familial restrictive cardiomyopathy
 FOXG1 syndrome
 Graves disease
 hereditary hyperekplexia
 hidradenitis suppurativa
 Imerslund-Gräsbeck syndrome
 Krabbe disease
 Laing distal myopathy
 lamellar ichthyosis
 leukoencephalopathy with vanishing white matter
 limb-girdle muscular dystrophy
 lysinuric protein intolerance
 microphthalmia
 molybdenum cofactor deficiency
 myosin storage myopathy
 Niemann-Pick disease
 oculopharyngeal muscular dystrophy
 ophthalmo-acromelic syndrome
 pontocerebellar hypoplasia
 Proteus syndrome
 sick sinus syndrome
 spastic paraplegia type 3A
 spinal muscular atrophy
  spinocerebellar ataxia type 3
 Walker-Warburg syndrome
 Winchester syndrome

http://ghr.nlm.nih.gov/chromosome/14/show/Conditions

crs.15

 acral peeling skin syndrome

 acromicric dysplasia
 acute promyelocytic leukemia
 Adams-Oliver syndrome
 age-related macular degeneration
 Alpers-Huttenlocher syndrome
 amyotrophic lateral sclerosis
 Andermann syndrome
 Angelman syndrome
 ataxia neuropathy spectrum
 autosomal recessive congenital stationary night blindness
 Bartter syndrome
 Bloom syndrome
 Brugada syndrome
 cardiofaciocutaneous syndrome
 congenital mirror movement disorder
 cytogenetically normal acute myeloid leukemia
 Diamond-Blackfan anemia
 familial osteochondritis dissecans
 familial thoracic aortic aneurysm and dissection
 geleophysic dysplasia
 glutaric acidemia type II
 Griscelli syndrome
 hepatic lipase deficiency
 Kufs disease
 Langerhans cell histiocytosis
 late-infantile neuronal ceroid lipofuscinosis
 Legius syndrome
 limb-girdle muscular dystrophy
 Loeys-Dietz syndrome
 Marfan syndrome
 myoclonic epilepsy myopathy sensory ataxia
 oculocutaneous albinism
 Prader-Willi syndrome
 primary myelofibrosis
 progressive external ophthalmoplegia
 pulmonary veno-occlusive disease
 sensorineural deafness and male infertility
 Shprintzen-Goldberg syndrome
 sick sinus syndrome
 spastic paraplegia type 11
 Tay-Sachs disease
 Weill-Marchesani syndrome

http://ghr.nlm.nih.gov/chromosome/15/show/Conditions

crs. 16

 alpha thalassemia
 alveolar capillary dysplasia with misalignment of pulmonary veins
 asphyxiating thoracic dystrophy
 Blau syndrome
 Brody myopathy
 Brooke-Spiegler syndrome
 chronic granulomatous disease
 combined malonic and methylmalonic aciduria
 complete LCAT deficiency
 congenital bile acid synthesis defect type 1
 core binding factor acute myeloid leukemia
 Crohn disease
 DOORS syndrome
 familial hemiplegic migraine
 familial Mediterranean fever
 familial paroxysmal kinesigenic dyskinesia
 fish-eye disease
 Floating-Harbor syndrome
 generalized arterial calcification of infancy
 giant axonal neuropathy
 Gitelman syndrome
 glycogen storage disease type IX
 Huntington disease-like syndrome
 infantile neuronal ceroid lipofuscinosis
 juvenile Batten disease
 KBG syndrome
 Liddle syndrome
 Mainzer-Saldino syndrome
 malignant migrating partial seizures of infancy
 malonyl-CoA decarboxylase deficiency
 Meier-Gorlin syndrome
 Miller syndrome
 mucopolysaccharidosis type IV
 multicentric osteolysis, nodulosis, and arthropathy
 multiple familial trichoepithelioma
 North American Indian childhood cirrhosis
 oculocutaneous albinism
 PMM2-congenital disorder of glycosylation
 polycystic kidney disease
 polymicrogyria
 pseudoxanthoma elasticum
 Rubinstein-Taybi syndrome
 spastic paraplegia type 7

http://ghr.nlm.nih.gov/chromosome/16/show/Conditions