Diseases name
|
Estimated prevalence (/100,000)
|
|
2,8 dihydroxyadenine urolithiasis
|
1.7
|
|
Acalvaria
|
< 1**
|
|
Acanthamoeba keratitis
|
1
|
|
Aceruloplasminemia
|
0.1
|
|
Acquired hemophilia
|
0.1
|
|
Acrodermatitis enteropathica, zinc deficiency type
|
0.2
|
|
Adrenocortical carcinoma
|
1
|
|
Adult Still's disease
|
1.23
|
|
Adult-onset proximal spinal muscular atrophy, autosomal dominant
|
0.1
|
|
Alagille syndrome
|
1.4
|
|
Albers-Schönberg osteopetrosis
|
1
|
|
Albright hereditary osteodystrophy
|
0.72
|
|
Alkaptonuria
|
0.3
|
|
Alpers syndrome
|
0.025
|
|
Alpha-mannosidosis
|
0.1
|
|
Alport syndrome
|
2
|
|
Amoebiasis due to free-living amoebae
|
1.75
|
|
Anaplastic large cell lymphoma
|
2
|
|
Anaplastic thyroid carcinoma
|
0.13
|
|
Aniridia
|
1.75
|
|
Anomaly of bile acid synthesis
|
0.6
|
|
Antisynthetase syndrome
|
1.5
|
|
Aortic arch interruption
|
0,3**
|
|
Apert syndrome
|
1.25
|
|
Ataxia-telangiectasia
|
1
|
|
Atypical coarctation of aorta
|
0,17**
|
|
Atypical hemolytic uremic syndrome
|
1
|
|
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
|
0.11
|
|
Autosomal dominant pterygium popliteal syndrome
|
0.3
|
|
Autosomal dominant severe congenital neutropenia
|
0,4**
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2C
|
1.96
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2D
|
0.57
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2E
|
0.57
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2F
|
0.57
|
|
Autosomal recessive malignant osteopetrosis
|
0,75**
|
|
Autosomal recessive medullary cystic kidney disease
|
1.05
|
|
Bardet-Biedl syndrome
|
0.8
|
|
Bartter syndrome
|
0.12
|
|
Berardinelli-Seip congenital lipodystrophy
|
0.25
|
|
Beta-thalassemia
|
0.5
|
|
Birt-Hogg-Dube syndrome
|
0.5
|
|
Blackfan-Diamond disease
|
0.32
|
|
Botulism
|
0.05
|
|
Budd-Chiari syndrome
|
1.5
|
|
Campomelic dysplasia
|
0.35
|
|
Cantrell pentalogy
|
0,55**
|
|
Carbamoylphosphate synthetase deficiency
|
0.7
|
|
Cat-eye syndrome
|
1.35
|
|
CDG syndrome
|
1,5**
|
|
CHARGE syndrome
|
0.14
|
|
Childhood disintegrative disorder
|
2
|
|
Childhood-onset proximal spinal muscular atrophy, autosomal dominant
|
0.1
|
|
Chondrodysplasia punctata, rhizomelic type
|
1
|
|
Chordoma
|
0.05
|
|
Choroideremia
|
2
|
|
Christ-Siemens-Touraine syndrome
|
0.35
|
|
Chronic autoimmune hepatitis
|
0.75
|
|
Chronic granulomatous disease
|
0.2
|
|
Chronic hepatic porphyria
|
1.5
|
|
Chronic hiccup
|
1
|
|
Churg-Strauss syndrome
|
1
|
|
Clouston syndrome
|
1
|
|
Coats disease
|
2
|
|
Coffin-Lowry syndrome
|
0.55
|
|
Combined deficiency of factor V and factor VIII
|
0.5
|
|
Congenital bullous ichthyosiform erythroderma
|
0.4
|
|
Congenital dyserythropoietic anemia
|
1
|
|
Congenital factor II deficiency
|
0.05
|
|
Congenital factor V deficiency
|
0.1
|
|
Congenital factor VII deficiency
|
0.25
|
|
Congenital factor X deficiency
|
0.2
|
|
Congenital factor XI deficiency
|
0.1
|
|
Congenital factor XIII deficiency
|
0.5
|
|
Congenital fibrinogen deficiency
|
0.15
|
|
Congenital muscular dystrophy type 1A
|
0.3
|
|
Congenital muscular dystrophy with integrin deficiency
|
0.03
|
|
Congenital myasthenic syndromes
|
0.75
|
|
Congenital Rubella syndrome
|
1**
|
|
Cornelia de Lange syndrome
|
1.9
|
|
Cowden syndrome
|
0.45
|
|
Craniofacial dyssynostosis
|
0.05
|
|
Craniopharyngioma
|
2
|
|
Creutzfeldt-Jakob disease
|
0.1
|
|
Crigler-Najjar syndrome
|
1
|
|
Criss-cross heart
|
0.8
|
|
Crouzon disease
|
2
|
|
Cutaneous mastocytosis
|
0.75
|
|
Cutaneous neuroendocrine carcinoma
|
0.5
|
|
Cutis verticis gyrata - intellectual deficit
|
1.02
|
|
Cyclic neutropenia
|
0.1
|
|
Cystinosis
|
0.5
|
|
Darier disease
|
1.5
|
|
Dentatorubral pallidoluysian atrophy
|
< 0,3
|
|
Diabetes - maternally inherited deafness
|
0.1
|
|
Diastrophic dwarfism
|
1.2
|
|
Distal myopathy, Nonaka type
|
0.1
|
|
Dopa-responsive dystonia
|
0.3
|
|
Dyskeratosis congenita
|
0.1
|
|
Dystrophic epidermolysis bullosa
|
0.27
|
|
Early onset torsion dystonia
|
0.4
|
|
Ebstein malformation
|
1.25
|
|
Ehlers-Danlos syndrome type 4
|
1
|
|
Emery-Dreifuss muscular dystrophy
|
0.3
|
|
Endocrine tumor
|
1
|
|
Erythropoietic protoporphyria
|
0.9
|
|
Evans syndrome
|
0.1
|
|
Ewing sarcoma
|
0.1
|
|
Extraskeletal myxoid chondrosarcoma
|
0.2
|
|
Fabry disease
|
1.75
|
|
Familial amyloid polyneuropathy
|
1.1
|
|
Familial cold urticaria
|
0.1
|
|
Fanconi anemia
|
1
|
|
Femur-fibula-ulna complex
|
1.5
|
|
Fibrodysplasia ossificans progressiva
|
0.08
|
|
Fibrous dysplasia of bone
|
< 0,05
|
|
Gaucher disease
|
2
|
|
Gaucher disease type 1
|
0.94
|
|
Gaucher disease type 2
|
0.01
|
|
Gaucher disease type 3
|
0.05
|
|
Giant pigmented hairy nevus
|
2
|
|
Glutaryl-CoA dehydrogenase deficiency
|
0.4
|
|
Glycogen storage disease type 2
|
1.1
|
|
Glycogen storage disease type 4
|
0.6
|
|
Goodpasture syndrome
|
0.64
|
|
Gorlin syndrome
|
1
|
|
Harding ataxia
|
1
|
|
Hemophilia B
|
1.3
|
|
Hereditary chronic pancreatitis
|
0.125
|
|
Hereditary thrombophilia due to congenital protein C deficiency
|
0.2
|
|
Hereditary thrombophilia due to congenital protein S deficiency
|
0.2
|
|
Hermansky-Pudlak syndrome
|
0.15
|
|
Holt-Oram syndrome
|
1
|
|
Homocystinuria due to cystathionine beta-synthase deficiency
|
0.4
|
|
Hurler syndrome
|
1
|
|
Hurler-Scheie syndrome
|
1
|
|
Hurler-Scheie syndrome
|
0.23
|
|
Hypereosinophilic syndromes
|
1.5
|
|
Hyperkalemic periodic paralysis
|
0.75
|
|
Hyperlipoproteinemia type 1
|
0.6
|
|
Hyperoxaluria
|
0.2
|
|
Hypokalemic periodic paralysis
|
1
|
|
Idiopathic and/or familial pulmonary arterial hypertension
|
1.5
|
|
Idiopathic aplastic anemia
|
0.4
|
|
Incontinentia pigmenti
|
0.2
|
|
Infantile Refsum disease
|
0.005
|
|
Isolated Klippel-Feil syndrome
|
2
|
|
Isolated nonketotic hyperglycinemia
|
0.2
|
|
Isovaleric acidemia
|
1
|
|
Jeune syndrome
|
0.2
|
|
Joubert syndrome
|
1
|
|
Junctional epidermolysis bullosa
|
0.06
|
|
Juvenile myelomonocytic leukemia
|
0.1
|
|
Juvenile neuronal ceroid lipofuscinosis
|
0.46
|
|
Kabuki syndrome
|
1.16
|
|
Kaposi's sarcoma
|
1.7
|
|
Kearns-Sayre syndrome
|
2
|
|
Krabbe disease
|
0,75**
|
|
Lafora disease
|
< 0,1
|
|
Lambert-Eaton myasthenic syndrome
|
1
|
|
Lamellar ichthyosis
|
> 0,33
|
|
Langerhans cell histiocytosis
|
2
|
|
Laron syndrome
|
0.2
|
|
Laryngo-tracheo-esophageal cleft
|
1.5
|
|
Late infantile neuronal ceroid lipofuscinosis
|
1.3
|
|
Lateral body wall complex
|
2**
|
|
Lemierre syndrome
|
0.1
|
|
Leprechaunism
|
0,1**
|
|
Leptospirosis
|
0.24
|
|
Lesch-Nyhan syndrome
|
0.38
|
|
Lewis-Sumner syndrome
|
0.9
|
|
Ligneous conjunctivitis
|
1.1
|
|
Limb-girdle muscular dystrophy
|
0.8
|
|
Lissencephaly type 2
|
0.12
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
1
|
|
Lowe syndrome
|
0.19
|
|
Lymphangioleiomyomatosis
|
0.1
|
|
Macrophagic myofasciitis
|
1
|
|
Maternal hyperphenylalaninemia
|
1.25
|
|
McCune-Albright syndrome
|
0.55
|
|
Mendelian susceptibility to atypical mycobacteria
|
0.059
|
|
Menkes disease
|
0.7
|
|
MERRF syndrome
|
0.9
|
|
Metachromatic leukodystrophy
|
0.16
|
|
Miller-Dieker syndrome
|
0.3
|
|
Mucolipidosis type 2
|
0,15**
|
|
Mucopolysaccharidosis type 1
|
1.3
|
|
Mucopolysaccharidosis type 2
|
0.6
|
|
Mucopolysaccharidosis type 3
|
1.1
|
|
Mucopolysaccharidosis type 4
|
0.4
|
|
Mucopolysaccharidosis type 6
|
0,16**
|
|
Muenke syndrome
|
1,8**
|
|
Multifocal motor neuropathy with conduction block
|
1.5
|
|
Multiple exostoses
|
2
|
|
Muscular dystrophy, Fukuyama type
|
0.54
|
|
Naegeli-Franceschetti-Jadassohn syndrome
|
0.035
|
|
Nail-patella syndrome
|
2
|
|
Nemaline myopathy
|
1
|
|
Neonatal diabetes mellitus
|
0.2
|
|
Nephrogenic diabetes insipidus
|
0.5
|
|
Netherton disease
|
1.35
|
|
Neurofibromatosis type 2
|
0.5
|
|
Neuromyelitis optica
|
1.5
|
|
Niemann-Pick disease type A
|
0,25**
|
|
Niemann-Pick disease type B
|
0,4**
|
|
Niemann-Pick disease type B
|
0.4
|
|
Niemann-Pick disease type C
|
0.85
|
|
Nijmegen breakage syndrome
|
1**
|
|
Non-distal trisomy 12p
|
2**
|
|
Ocular coloboma
|
1
|
|
Oculopharyngeal muscular dystrophy
|
1
|
|
Oral-facial-digital syndrome type 1
|
1.2
|
|
Ornithine carbamoyltransferase deficiency
|
1
|
|
Osteoporosis - pseudoglioma
|
0.05
|
|
Papillon-Lefevre syndrome
|
0.25
|
|
Paroxysmal hemicrania
|
2
|
|
Paroxysmal nocturnal hemoglobinuria
|
0.55
|
|
Pelizaeus-Merzbacher disease
|
0.25
|
|
Perinatal-lethal Gaucher disease
|
0.01
|
|
Persistent hyperinsulinemic hypoglycemia of infancy
|
2
|
|
Pfeiffer syndrome
|
1
|
|
Piebaldism
|
0.25
|
|
Poland syndrome
|
2
|
|
Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
|
0.15
|
|
Primary lateral sclerosis
|
1.5
|
|
Progeria
|
0,25**
|
|
Proximal myotonic myopathy
|
1
|
|
Proximal spinal muscular atrophy type 1
|
1.25
|
|
Proximal spinal muscular atrophy type 2
|
1.42
|
|
Proximal spinal muscular atrophy type 3
|
0.26
|
|
Proximal spinal muscular atrophy type 4
|
0.32
|
|
Pseudoachondroplasia
|
1.6
|
|
Pulmonary alveolar proteinosis
|
0.1
|
|
Pure autonomic failure
|
1
|
|
Pyridoxin-dependent epilepsy
|
0.15
|
|
Refsum disease
|
0.1
|
|
Relapsing polychondritis
|
0.35
|
|
Rieger syndrome
|
0.5
|
|
Rubinstein-Taybi syndrome
|
1
|
|
Sandhoff disease
|
0.75
|
|
Sanfilippo syndrome type A
|
0.3
|
|
Sarcosinemia
|
2
|
|
Scheie syndrome
|
0.2
|
|
Scheie syndrome
|
0.2
|
|
Schizencephaly
|
1.54
|
|
Senior-Loken syndrome
|
0.1
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
0.22
|
|
Severe congenital neutropenia
|
0.4
|
|
Sezary's syndrome
|
0.18
|
|
Sialidosis type 1
|
0,02**
|
|
Sialidosis type 2
|
0,02**
|
|
Sirenomelia
|
1**
|
|
Sjögren-Larsson syndrome
|
0.4
|
|
Solitary rectal ulcer syndrome
|
1*
|
|
Split hand - split foot
|
1.1
|
|
Spondylometaphyseal dysplasia
|
1
|
|
Sporadic inclusion body myositis
|
0.49
|
|
Sternal cleft
|
< 2
|
|
Stiff-man syndrome
|
0.1
|
|
Superficial pemphigus
|
1.2
|
|
Takayasu arteritis
|
0.45
|
|
Tay-Sachs disease
|
0,3**
|
|
Tibial aplasia - ectrodactyly
|
0.1
|
|
Tibial hemimelia
|
0.1
|
|
Townes-Brocks syndrome
|
0.42
|
|
Tracheal agenesis
|
1**
|
|
Transmissible spongiform encephalopathies
|
0.3
|
|
Tyrosinemia type 1
|
0.05
|
|
Unverricht-Lundborg disease
|
0.2
|
|
Van Der Woude syndrome
|
2
|
|
Von Hippel-Lindau disease
|
1.9
|
|
Walker-Warburg syndrome
|
1,65**
|
|
Werner syndrome
|
0.45
|
|
Wiskott-Aldrich syndrome
|
0.15
|
|
Wolf-Hirschhorn syndrome
|
2**
|
|
Wolfram syndrome
|
0.57
|
|
Wolman disease
|
0,28**
|
|
Xanthomatosis cerebrotendinous
|
0.13
|
|
Xeroderma pigmentosum
|
0.5
|
|
X-linked agammaglobulinemia
|
0.45
|
|
X-linked Charcot-Marie-Tooth disease
|
1.6
|
|
X-linked diffuse leiomyomatosis - Alport syndrome
|
0.1
|
|
X-linked dominant chondrodysplasia punctata
|
0.5
|
|
X-linked lymphoproliferative disease
|
0.1
|
|
X-linked recessive ocular albinism
|
2
|
|
Zellweger syndrome
|
1.1
|
Diseases name
|
Number of published cases
|
|
46,XX disorder of sex development - skeletal anomalies
|
2 cases
|
|
46,XY disorder of sex development - adrenal insufficiency
|
2 cases
|
|
Acrocraniofacial dysostosis
|
2 cases
|
|
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
|
2 cases
|
|
Alar cartilages hypoplasia - coloboma - telecanthus
|
2 cases
|
|
Amaurosis - hypertrichosis
|
2 cases
|
|
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
|
2 cases
|
|
Aniridia - renal agenesis - psychomotor retardation
|
2 cases
|
|
Aniridia-intellectual deficit syndrome
|
2 cases
|
|
Arthrogryposis - hyperkeratosis, lethal form
|
2 cases
|
|
Atherosclerosis- deafness - diabetes - epilepsy - nephropathy
|
2 cases
|
|
Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
|
2 cases
|
|
Auriculoocular anomalies - cleft lip
|
2 cases
|
|
Autosomal dominant craniodiaphyseal dysplasia
|
2 cases
|
|
Autosomal recessive acrofacial dysostosis
|
2 cases
|
|
Bangstad syndrome
|
2 cases
|
|
Beemer-Ertbruggen syndrome
|
2 cases
|
|
Blepharo-facio-skeletal syndrome
|
2 cases
|
|
Brachytelephalangy - dysmorphism - Kallmann syndrome
|
2 cases
|
|
Braddock syndrome
|
2 cases
|
|
Brain demyelination due to methionine adenosyltransferase deficiency
|
2 cases
|
|
Brain malformation - congenital heart disease - postaxial polydactyly
|
2 cases
|
|
Camptodactyly syndrome, Guadalajara type 2
|
2 cases
|
|
Cardiomyopathy - renal anomalies
|
2 cases
|
|
Cataract - ataxia - deafness
|
2 cases
|
|
Cataract - nephropathy - encephalopathy
|
2 cases
|
|
CDG syndrome type Ii
|
1 case
|
|
CDG syndrome type IIb
|
1 case
|
|
CDG syndrome type IId
|
1 case
|
|
CDG syndrome type IIe
|
2 cases
|
|
CDG syndrome type IIh
|
2 cases
|
|
CDG syndrome type Ij
|
1 case
|
|
CDG syndrome type IL
|
2 cases
|
|
Chondrodysplasia - disorder of sex development
|
2 cases
|
|
Choroidal atrophy - alopecia
|
2 cases
|
|
Cleft lip - retinopathy
|
2 cases
|
|
Cleft lip/palate - intellectual deficit - corneal opacities
|
2 cases
|
|
Cleft palate - short stature - vertebral anomalies
|
2 cases
|
|
Cleft palate - stapes fixation - oligodontia
|
2 cases
|
|
Cleido rhizomelic syndrome
|
2 cases
|
|
Congenital brain dysgenesis due to glutamine synthetase deficiency
|
2 cases
|
|
Congenital ichthyosis - microcephalus - quadriplegia
|
2 cases
|
|
Contractures - ectodermal dysplasia - cleft lip/palate
|
2 cases
|
|
Cooper-Jabs syndrome
|
2 cases
|
|
Corneal anesthesia - deafness - intellectual deficit
|
2 cases
|
|
Corneal-cerebellar syndrome
|
2 cases
|
|
Craniosynostosis - fibular aplasia
|
2 cases
|
|
Craniosynostosis-radial aplasia, Imaizumi type
|
2 cases
|
|
Cryptomicrotia - brachydactyly - excess fingertip arch
|
2 cases
|
|
Dahlberg-Borer-Newcomer syndrome
|
2 cases
|
|
Dandy-Walker malformation - postaxial polydactyly
|
2 cases
|
|
Deaf blind hypopigmentation syndrome, Yemenite type
|
2 cases
|
|
Deafness - genital anomalies - metacarpal and metatarsal synostosis
|
2 cases
|
|
Deafness - vitiligo - achalasia
|
2 cases
|
|
Deafness-tubular acidosis-anemia
|
2 cases
|
|
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
|
2 cases
|
|
Dermato-cardio-skeletal syndrome, Borrone type
|
2 cases
|
|
Dermatoleukodystrophy
|
2 cases
|
|
Desmosterolosis
|
2 cases
|
|
Developmental malformations - deafness - dystonia
|
2 cases
|
|
Dincsoy-Salih-Patel syndrome
|
2 cases
|
|
Duane anomaly - myopathy - scoliosis
|
2 cases
|
|
Dysmorphism - short stature - deafness - disorder of sex development
|
2 cases
|
|
Ectodermal dysplasia - blindness
|
2 cases
|
|
Eng-Strom syndrome
|
2 cases
|
|
Epilepsy - microcephaly - skeletal dysplasia
|
2 cases
|
|
Epithelio-exfoliative colitis - deafness
|
2 cases
|
|
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
|
2 cases
|
|
Fuqua-Berkovitz syndrome
|
2 cases
|
|
Gamma aminobutyric acid transaminase deficiency
|
2 cases
|
|
Gonadal dysgenesis, XY type - associated anomalies
|
2 cases
|
|
Heart defects - limb shortening
|
2 cases
|
|
HEC syndrome
|
2 cases
|
|
Hennekam-Beemer syndrome
|
2 cases
|
|
Hereditary cryohydrocytosis with reduced stomatin
|
2 cases
|
|
Hirschsprung disease - deafness - polydactyly
|
2 cases
|
|
Hydrocephaly - tall stature - joint laxity
|
2 cases
|
|
Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency
|
2 cases
|
|
Hyperekplexia - epilepsy
|
2 cases
|
|
Hypomagnesemia with normocalciuria
|
2 cases
|
|
Hypospadias-hypertelorism-coloboma and deafness
|
2 cases
|
|
Hypotrichosis-intellectual deficit, Lopes type
|
2 cases
|
|
Ichthyosis - hepatosplenomegaly - cerebellar degeneration
|
2 cases
|
|
Ichthyosis - oral and digital anomalies
|
2 cases
|
|
Ichthyosis congenita - biliary atresia
|
2 cases
|
|
Immunodeficiency due to CD25 deficiency
|
2 cases
|
|
Inappropriate antidiuretic hormone secretion syndrome
|
2 cases
|
|
Intellectual deficit, X-linked - acromegaly - hyperactivity
|
2 cases
|
|
Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism
|
2 cases
|
|
Intellectual deficit, X-linked - plagiocephaly
|
2 cases
|
|
Intellectual deficit, X-linked, Cantagrel type
|
2 cases
|
|
Intellectual deficit, X-linked, Reish type
|
2 cases
|
|
Iris dysplasia - hypertelorism - deafness
|
2 cases
|
|
Kaler-Garrity-Stern syndrome
|
2 cases
|
|
Kapur-Toriello syndrome
|
2 cases
|
|
Keratoderma - hypotrichosis - leukonychia
|
2 cases
|
|
Kozlowski-Brown-Hardwick syndrome
|
2 cases
|
|
Kudo-Tamura-Fuse syndrome
|
2 cases
|
|
Lethal cystic hygroma - cleft palate
|
2 cases
|
|
Lethal hemolytic anemia - genital anomalies
|
2 cases
|
|
Lethal Kniest-like dysplasia
|
2 cases
|
|
Leukoencephalopathy - dystonia - motor neuropathy
|
2 cases
|
|
Lichstenstein syndrome
|
2 cases
|
|
Lissencephaly type III - metacarpal bone dysplasia
|
2 cases
|
|
Low birth weight - dwarfism - dysgammaglobulinemia
|
2 cases
|
|
Lung fibrosis - immunodeficiency - gonadal dysgenesis
|
2 cases
|
|
Macrocephaly - immune deficiency - anemia
|
2 cases
|
|
Macrocephaly - short stature - paraplegia
|
2 cases
|
|
Mesomelic dysplasia - skin dimples
|
2 cases
|
|
Metaphyseal chondrodysplasia - retinitis pigmentosa
|
2 cases
|
|
Metaphyseal chondrodysplasia, Kaitila type
|
2 cases
|
|
Methylmalonic aciduria - microcephaly - cataract
|
2 cases
|
|
Microbrachycephaly - ptosis - cleft lip
|
2 cases
|
|
Microcephaly - digital anomalies - intellectual deficit
|
2 cases
|
|
Microcephaly - glomerulonephritis - marfanoid habitus
|
2 cases
|
|
Microcephaly - seizures - intellectual deficit - heart disease
|
2 cases
|
|
Microlissencephaly - micromelia
|
2 cases
|
|
Mitochondrial encephalomyopathy , Ghezzi-Zeviani type
|
2 cases
|
|
Mitochondrial encephalomyopathy aminoacidopathy
|
2 cases
|
|
Monosomy 9q22.3
|
2 cases
|
|
Multiple sclerosis - ichthyosis - factor VIII deficiency
|
2 cases
|
|
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
|
2 cases
|
|
Nephronophtisis familial, adult form - spastic quadriparesia
|
2 cases
|
|
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
|
2 cases
|
|
Not NOTCH3-related small vessel disease of the brain
|
2 cases
|
|
Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
|
2 cases
|
|
Obesity due to prohormone convertase-I deficiency
|
2 cases
|
|
Oculotrichodysplasia
|
2 cases
|
|
Okamoto syndrome
|
2 cases
|
|
Ossification anomalies - psychomotor development delay
|
2 cases
|
|
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
|
2 cases
|
|
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
|
2 cases
|
|
PARC syndrome
|
2 cases
|
|
Pierre Robin syndrome - faciodigital anomaly
|
2 cases
|
|
Pilodental dysplasia - refractive errors
|
2 cases
|
|
Progressive neurodegeneration - joint laxity - cataract
|
2 cases
|
|
Pseudoprogeria syndrome
|
2 cases
|
|
Pterygium colli - intellectual deficit - digital anomalies
|
2 cases
|
|
Ptosis - strabismus - rectus abdominis diastasis
|
2 cases
|
|
Pulmonary arterial hypertension - leukopenia - atrial septal defect
|
2 cases
|
|
Resistance to thyrotropin-releasing hormone syndrome
|
2 cases
|
|
Robinow-like syndrome
|
2 cases
|
|
Rudiger syndrome
|
2 cases
|
|
Say-Barber-Miller syndrome
|
2 cases
|
|
Scalp defects - postaxial polydactyly
|
2 cases
|
|
SCARF syndrome
|
2 cases
|
|
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia
|
2 cases
|
|
Short stature, Brussels type
|
2 cases
|
|
Siegler-Brewer-Carey syndrome
|
2 cases
|
|
Spastic paraplegia - precocious puberty
|
2 cases
|
|
Spastic quadriplegia - retinitis pigmentosa - intellectual deficit
|
2 cases
|
|
Spinal muscular atrophy - Dandy-Walker complex - cataracts
|
2 cases
|
|
Spondyloepimetaphyseal dysplasia - abnormal dentition
|
2 cases
|
|
Spondyloepimetaphyseal dysplasia, Genevieve type
|
2 cases
|
|
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
|
2 cases
|
|
Spondylometaphyseal dysplasia, A4 type
|
2 cases
|
|
Stimmler syndrome
|
2 cases
|
|
Stoll-Alembik-Finck syndrome
|
2 cases
|
|
Syngnathia multiple anomalies
|
2 cases
|
|
Talo-patello-scaphoid osteolysis
|
2 cases
|
|
Teebi-Shaltout syndrome
|
2 cases
|
|
Thrombocytopenia - Robin sequence
|
2 cases
|
|
Thyrocerebrorenal syndrome
|
2 cases
|
|
Trichomegaly - cataract - hereditary spherocytosis
|
2 cases
|
|
Trigonocephaly - bifid nose - acral anomalies
|
2 cases
|
|
Trigonocephaly - broad thumbs
|
2 cases
|
|
Tubular renal disease - cardiomyopathy
|
2 cases
|
|
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
|
2 cases
|
|
Weaver-Williams syndrome
|
2 cases
|
|
Xeroderma - talipes - enamel defects
|
2 cases
|
|
Zellweger-like syndrome without peroxisomal anomalies
|
2 cases
|
Diseases name
|
Number of published families
|
|
Ankyloblepharon filiforme - imperforate anus
|
2 families
|
|
Albinism-deafness syndrome
|
1 family
|
|
Alopecia - congenita keratosis palmoplantaris
|
1 family
|
|
Ankyloblepharon filiforme - imperforate anus
|
2 families
|
|
Aphalangy - syndactyly - microcephaly
|
1 family
|
|
Arthrogryposis-like hand anomaly - sensorineural deafness
|
1 family
|
|
Auriculoosteodysplasia
|
2 families
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2F
|
1 family
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2G
|
1 family
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2L
|
1 family
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
2 families
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1F
|
1 family
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1G
|
1 family
|
|
Autosomal dominant spastic paraplegia type 29
|
1 family
|
|
Autosomal dominant spastic paraplegia type 38
|
1 family
|
|
Autosomal dominant spastic paraplegia type 9
|
1 family
|
|
Autosomal recessive cerebellar ataxia - saccadic intrusion
|
1 family
|
|
Autosomal recessive spastic paraplegia type 14
|
1 family
|
|
Autosomal recessive spastic paraplegia type 23
|
1 family
|
|
Autosomal recessive spastic paraplegia type 24
|
1 family
|
|
Autosomal recessive spastic paraplegia type 25
|
1 family
|
|
Autosomal recessive spastic paraplegia type 26
|
2 families
|
|
Autosomal recessive spastic paraplegia type 27
|
2 families
|
|
Autosomal recessive spastic paraplegia type 28
|
1 family
|
|
Autosomal recessive spastic paraplegia type 30
|
1 family
|
|
Autosomal recessive spastic paraplegia type 32
|
1 family
|
|
Autosomal recessive spastic paraplegia type 35
|
1 family
|
|
Autosomal recessive spastic paraplegia type 39
|
2 families
|
|
Bakrania-Ragge syndrome
|
2 families
|
|
Banki syndrome
|
1 family
|
|
Bencze syndrome
|
2 families
|
|
Berant syndrome
|
1 family
|
|
Blepharonasofacial malformation syndrome
|
2 families
|
|
Brachydactyly - nystagmus - cerebellar ataxia
|
1 family
|
|
Brachydactyly type A5
|
2 families
|
|
Brachydactyly type A7
|
1 family
|
|
Bullous dystrophy, macular type
|
2 families
|
|
Cabezas syndrome
|
1 family
|