|
3-methylglutaconic aciduria type 1
|
|
6-deficiency pyruvyl-tetrahydropterin synthase
|
|
ABO isoimmunization
|
|
Achondroplasia
|
|
Achromatopsia
|
|
Aciduria Argininosuccinic
|
|
Acyl-CoA dehydrogenase deficiency
|
|
Adenosine deaminase deficiency
|
|
Adrenoleukodystrophy
|
|
Adult syndrome
|
|
Aicardi Goutieres Syndrome
|
|
Aicardi-Goutières syndrome
|
|
Alagille syndrome
|
|
Albright syndrome
|
|
Alpha thalassemia
|
|
Alpha-1 antitrypsin deficiency
|
|
Alpha-thalassemia syndrome X-linked intellectual disability
|
|
Alport syndrome
|
|
Alström syndrome
|
|
Amyotrophic Lateral Sclerosis
|
|
Amyotrophic lateral sclerosis familiar
|
|
Androgen insensitivity syndrome
|
|
Aniridia
|
|
APECED syndrome
|
|
Apparent mineralocorticoid excess
|
|
Arterial tortuosity syndrome
|
|
Ataxia-oculomotor apraxia type 1
|
|
ATIC deficiency
|
|
Autism spectrum disorder
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1B
|
|
Autosomal recessive limb-girdle muscular dystrophy
|
|
Autosomal recessive polycystic kidney disease
|
|
Band like calcification polymicrogyria
|
|
Bardet-Biedl syndrome
|
|
Bartter syndrome
|
|
Best Macular dystrophy
|
|
Beta Thalassemia
|
|
Biotinidase deficiency
|
|
Biotin-responsive basal ganglia disease
|
|
Blackfan-Diamond disease
|
|
Blepharophimosis-epicanthus inversus-ptosis syndrome
|
|
Bruck syndrome
|
|
Brugada syndrome
|
|
Bruton type agammaglobulinemia
|
|
CADASIL
|
|
Canavan Disease
|
|
Carbamoyl-phosphate synthase deficiency
|
|
Carbonic anhydrase deficiency type 2
|
|
Cartilage-hair hypoplasia
|
|
Catecholaminergic polymorphic ventricular tachycar
|
|
Caveolinopathy
|
|
CDK9 SYNDROME
|
|
Central core myopathy
|
|
Cerebellar hypoplasia
|
|
Charcot Marie Tooh 2A
|
|
Charcot Marie Tooh X-linked
|
|
Charcot Marie Tooth 1A
|
|
Charcot Marie Tooth 1B
|
|
Charcot Marie Tooth 2K
|
|
Charcot Marie Tooth 4C
|
|
Charcot Marie Tooth 4D
|
|
Chondrodysplasia punctata
|
|
Chondrodysplasia punctata type 1 Rhizomelic
|
|
Chondrodysplasia type Grebe
|
|
Choroideremia
|
|
Chronic granulomatosis
|
|
Citrullinemia
|
|
Cleidocranial dysostosis
|
|
Clouston syndrome
|
|
COFS syndrome
|
|
Cohen syndrome
|
|
Combined oxidative phosphorylation deficiency
|
|
Congenital adrenal hyperplasia
|
|
Congenital cataracts
|
|
Congenital cerebellar ataxia
|
|
congenital heart disease
|
|
Congenital ichthyosis
|
|
Congenital lamellar ichthyosis
|
|
Congenital muscular dystrophy
|
|
Congenital muscular dystrophy by merosin Deficit
|
|
Congenital muscular dystrophy megaconial
|
|
Congenital myasthenic syndromes with glycosylation defect
|
|
Congenital nephrotic syndrome
|
|
Congenital tufting enteropathy
|
|
Corneal dystrophy
|
|
Cornelia de Lange syndrome
|
|
Creutzfeldt-Jakob disease
|
|
Cystic fibrosis
|
|
Cystoid macular dystrophy
|
|
Cytomegalic congenital adrenal hypoplasia
|
|
D,L-2-hydroxyglutaric aciduria
|
|
Darier disease
|
|
Deficiency of glucose 6-phosphate dehydrogenase
|
|
Dehydrated hereditary stomatocytosis
|
|
Diastrophic dysplasia
|
|
Diffuse gastric cancer
|
|
Dihydropyrimidine dehydrogenase deficiency
|
|
Dihydropyrimidine dehydrogenase deficiency
|
|
Dominant polycystic kidney disease
|
|
Duchenne muscular dystrophy / Becker
|
|
Duffy isoinmunization
|
|
Dyskeratosis congenita, X-linked
|
|
Dystrophic epidermolysis bullosa
|
|
Ectodermic dysplasia
|
|
EIF2B3-related leukodstrophy
|
|
Ellis-van Creveld syndrome
|
|
Emery-Dreifuss muscular dystrophy
|
|
Epileptic encephalopathy
|
|
Fabry disease
|
|
Facio-scapulo-humeral dystrophy
|
|
Factor XIII deficiency
|
|
Familial adenomatous polyposis
|
|
Familial amyloidotic polyneuropathy
|
|
Familial dysautonomia
|
|
Familial hyperaldosteronism
|
|
Familial hypertrophic cardiomyopathy
|
|
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
|
|
Familial isolated arrhythmogenic right ventricular dysplasia
|
|
Familial isolated dilated cardiomyopathy
|
|
Familial mediterranian fever
|
|
Familial spastic paraplegia
|
|
Family thoracic aortic aneurysm
|
|
Fanconi Anemia
|
|
Fatal familial insomnia
|
|
Fatal mutiple mitochondrial dysfunctions syndrome
|
|
FGFR1 related disorder
|
|
Focal dermal hypoplasia
|
|
Fragile X syndrome
|
|
Fraser syndrome
|
|
Galactosemy
|
|
Gangliosidosis
|
|
Gaucher's Disease
|
|
Geleophysic dysplasia
|
|
Gerstmann-Straussler-Scheinker syndrome
|
|
Glanzmann's thrombasthenia
|
|
Glycine encephalopathy
|
|
Glycogen Storage Disease
|
|
Glycogenosis due to glucose-6-phosphatase deficiency
|
|
GNE-related disorders
|
|
Gorlin syndrome
|
|
GSS syndrome
|
|
Harlequin type ichthyosis congenital
|
|
Hemolytic anemia due to red cell pyruvate kinase deficiency
|
|
Hemophagocytic lymphohistiocytosis
|
|
Hemophilia A
|
|
Hemophilia B
|
|
Hereditary angioedema
|
|
Hereditary breast cancer
|
|
Hereditary chronic pancreatitis
|
|
Hereditary fructose intolerance
|
|
Hereditary hearing loss
|
|
Hereditary hemorrhagic telangiectasia
|
|
Hereditary multiple exostosis
|
|
Hereditary Parkinson
|
|
Hereditary spherocytosis
|
|
Hermansky-Pudlak syndrome
|
|
Hipomielinizante leukodystrophy
|
|
HLA typing
|
|
Holoprosencephaly
|
|
Homocystinuria
|
|
Hunters Syndrome
|
|
Huntington
|
|
Hurler Syndrome
|
|
Hyper IgD syndrome
|
|
Hyperinsulinism
|
|
Hyperkalemic periodic paralysis
|
|
Hypochondroplasia
|
|
Hypohidrotic ectodermal dysplasia
|
|
Hypoparathyroidism-retardation-dysmorphism syndrom
|
|
Hypophosphatemic rickets X-linked
|
|
Idiopathic dystonia
|
|
Incontinentia pigmenti
|
|
Infantile liver failure syndrome 1
|
|
intestinal atresia
|
|
IPEX syndrome
|
|
Isolated sulfite oxidase deficiency
|
|
isovaleric acidemia
|
|
Jeune asphyxiating thoracic dystrophy
|
|
Joubert syndrome
|
|
Junctional epidermolysis bullosa
|
|
Kell isoimmunization
|
|
Kennedy disease
|
|
Krabbe disease
|
|
L1 syndrome
|
|
L-aromatic amino acid decarboxylase deficiency
|
|
Larsen syndrome
|
|
LCHADD
|
|
Leber congenital amaurosis
|
|
Leigh disease with leukodystrophy
|
|
Leigh syndrome
|
|
Leigh-like syndrome
|
|
Leopard syndrome
|
|
Leprechaunism
|
|
Leri Weill Dyschondrosteosis
|
|
Leucodystrophy
|
|
leukoencephalopathy with vanishing white matter
|
|
Li-Fraumeni syndrome
|
|
Limb girdle muscular dystrophy
|
|
Lipofuscinosis
|
|
Lissencephaly type 1 (X-chromosome)
|
|
Long QT syndrome
|
|
Lowe syndrome
|
|
Lymphedema-Distichiasis
|
|
Lynch syndrome
|
|
Macular dystrophy
|
|
Marfan syndrome
|
|
McArdle disease
|
|
Menkes disease
|
|
Mental Retardation
|
|
Mental retardation syndrome - strabismus
|
|
Merkel-Gruber syndrome
|
|
Metachromatic leucodystrophy
|
|
Methyl malonic acidemia
|
|
Microcephaly
|
|
Microphthalmia
|
|
Microvillus inclusion disease
|
|
Mitochondrial complex IV deficiency
|
|
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
|
|
Mitochrondrial DNA depletion syndrome
|
|
Molybdenum cofactor deficiency
|
|
Morbus-Crouzon syndrome
|
|
Mucin-1 kidney disease
|
|
Mucolipidosis II
|
|
Mucopolysaccharidosis I
|
|
Mucopolysaccharidosis II
|
|
Mucopolysaccharidosis IIIA
|
|
Mucopolysaccharidosis IV-A
|
|
Muenke syndrome
|
|
Multiple Endocrine Neoplasia 1
|
|
Multiple Endocrine Neoplasia 2A
|
|
Multiple Endocrine Neoplasia 2B
|
|
Multiple intestinal atresia
|
|
Myoclonic dystonia
|
|
N-acetyl-alpha-D-galactosaminidase deficiency
|
|
Nail-patella syndrome
|
|
Nanoftalmia
|
|
Nemaline myopathy
|
|
Neurofibromatosis 1
|
|
Neurofibromatosis 2
|
|
Niemann Pick A/B syndrome
|
|
Niemann Pick C syndrome
|
|
Nonketotic hyperglycinemia
|
|
Nonspecific X-linked intellectual deficit
|
|
Noonan Syndrome
|
|
Norrie disease
|
|
nuclear cataract
|
|
Oculocutaneous albinism
|
|
Oculo-dental-digital dysplasia
|
|
Ohtahara Syndrome
|
|
Ornithine transcarbamylase deficiency
|
|
Osteochondrodysplasia
|
|
Osteogenesis imperfecta
|
|
Osteopetrosis
|
|
Oxoglutaricaciduria
|
|
Papillo-renal syndrome
|
|
Paraganglioma/Pheochromocytoma
|
|
Partial STAT1 deficiency
|
|
Pelizaeus Merzbacher
|
|
Pelizaeus Merzbacher-like
|
|
Peraganglioma / pheochromocytoma
|
|
Periventricular Heterotopia
|
|
Peters plus syndrome
|
|
Peutz Jeghers syndrome
|
|
Pfeiffer syndrome
|
|
Phenylketonuria
|
|
Pompe disease
|
|
Pressure sensitive neuropathy
|
|
Primary ciliary dyskinesia
|
|
Progressive external ophthalmoplegia
|
|
Progressive familial intrahepatic cholestasis
|
|
Propionic acidemia
|
|
Proximal myopathy with extrapyramidal signs
|
|
Pseudoachondroplasia
|
|
Pseudohermaphroditism
|
|
Pyridoxal phosphate-responsive seizures
|
|
Pyruvate carboxylase deficiency
|
|
Rendu-Osler-Weber disease
|
|
Retinitis Pigmentosa
|
|
Retinoblastoma
|
|
RhCE isoimmunization
|
|
RhD isoimmunization
|
|
Sandhoff disease
|
|
Schaaf-Yang syndrome
|
|
Schwannomatosis
|
|
Sensory ataxic neuropathy - dysarthria - ophthalmo
|
|
Severe combined immunodeficiency T-B + X-linked
|
|
Shwachman-Diamond syndrome
|
|
Sickle cell anemia
|
|
Simple epidermolysis bullosa
|
|
Simpson-Golabi-Behmel syndrome
|
|
Smith Lemli Opitz syndrome
|
|
Spinal Muscular Atrophy
|
|
Spinocerebellar ataxia
|
|
spinocerebellar ataxia type 36
|
|
Spondylometaphyseal dysplasia
|
|
Stargardt's Disease
|
|
Steinert myotonic dystrophy
|
|
Steroid resistant nephrotic syndrome
|
|
Stickler syndrome type 1
|
|
Stuve-Wiedemann syndrome
|
|
Synaptic congenital myasthenic syndromes
|
|
Syndrome type 2 lethal congenital contracture
|
|
Syndrome Van der Knapp
|
|
Tay Sachs
|
|
Temtamy's syndrome
|
|
Thymine-uraciluria
|
|
Tibial muscular dystrophy
|
|
Treacher Collins syndrome
|
|
Tuberous sclerosis
|
|
Tyrosinemia type I
|
|
Urine Disease smelling maple syrup
|
|
Usher syndrome
|
|
Van den Ende-Gupta syndrome
|
|
Van der Woude syndrome
|
|
Variable PenetranceHypertrophic Cardiomyopthy
|
|
Vitelliform macular dystrophy
|
|
Von Hippel Lindau syndrome
|
|
Walker-Warburg syndrome
|
|
Warburg micro syndrome
|
|
Wiskott-Aldrich syndrome
|
|
Wolman syndrome
|
|
Woodhouse-Sakati syndrome
|
|
X-linked adrenoleukodystrophy
|
|
X-linked Agammaglobulinemia
|
|
Zellweger syndrome
|
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