Single Gene Diagnostics

Single gene diagnostics

Genome Diagnostics Nijmegen offers Single Gene Diagnostics for genetically heterogeneous disorders. It is used when a specific genetic disorder is suspected.

Single gene diagnostics includes:
  • sequencing of the full coding region of a single gene with intron/exon boundaries
  • a clinical interpretation and reporting

Single Gene Diagnostics is available for >1100 genes (22 disorder categories). For all genes not listed on our website and clearly established to be causative for a certain genetic disease, a custom gene diagnostics is possible.

For more detailed information on our service Single gene diagnostics visit our more information page.
For an up to date list of Single genes we currently offer visit our ordering website.

Costs and Turnaround time:
  • Price: Prices range from 500-2300 euro depending on the size of the gene
  • TAT:   4-6 weeks


Available disorders/genes:
  Updated 03 april 2018

Disorders (A-Z) Disorder categories
Alagille syndrome Cardiovascular
Amyloidosis Cardiovascular
Arrhythmogenic right ventricular cardiomyopathy (ARVD) Cardiovascular
Basal cell nevus syndrome Cardiovascular
Brugada syndrome Cardiovascular
Cardiomyopathy (HCM/DCM) Cardiovascular
Carvajal syndrome Cardiovascular
Congenital heart disease Cardiovascular
Fabry disease Cardiovascular
Familial aortadissection Cardiovascular
Familial atrial fibrillation Cardiovascular
Heart disorders (WES) Cardiovascular
Holt-Oram syndrome Cardiovascular
Jervell and Lange-Nielsen syndrome Cardiovascular
Left ventricular noncompaction cardiomyopathy Cardiovascular
Long QT syndrome Cardiovascular
Restrictive cardiomyopathy Cardiovascular
Short QT syndrome Cardiovascular
Sick sinus syndrome Cardiovascular
Velocardiofacial syndrome/DiGeorge syndrome Cardiovascular
Wolff-Parkinson-White syndrome Cardiovascular
Congenital disorder of glycosylation Congenital disorder of glycosylation
Cutis laxa, autosomal recessive Congenital disorder of glycosylation
Glycogen storage disease Congenital disorder of glycosylation
Myasthenic syndrome congenital Congenital disorder of glycosylation
17,20-lyase deficiency, isolated Disorders in sex development
46XY Sex reversal Disorders in sex development
Adrenogenital syndrome (AGS) Disorders in sex development
Antley-Bixler type syndrome Disorders in sex development
Disorders of sex development (DSD) (WES) Disorders in sex development
hand-foot-genital syndrome Disorders in sex development
Leydig cell hypoplasia Disorders in sex development
Lipoid adrenal hyperplasia Disorders in sex development
Luteinizing hormone resistance Disorders in sex development
Mullerian aplasia and hyperandrogenism Disorders in sex development
Pseudohermafroditism with gynecomastia, male Disorders in sex development
Pseudovaginal perineoscrotal hypospadias Disorders in sex development
Y-chromosomal aberrations Disorders in sex development
46XY Sex reversal Endocrine
ACTH-independent macronodular adrenal hyperplasia Endocrine
adrenocorticotropic hormone deficiency (ACTH) Endocrine
Adrenogenital syndrome (AGS) Endocrine
Adrenoleukodystrophy Endocrine
Aldosterone synthase deficiency Endocrine
Alstrom syndrome Endocrine
Antley-Bixler type syndrome Endocrine
Central precocious puberty (pubertas praecox) Endocrine
CHARGE syndrome Endocrine
Corticosterone methyloxidase deficiency Endocrine
Cortisol 11-beta-ketoreductase deficiency (AME1) Endocrine
Glucocorticoid deficiecy Endocrine
Glucocorticoid receptor deficiency Endocrine
Glucocorticoid Remediabel Aldosteronism Endocrine
Hartsfield syndrome Endocrine
Hyperaldosteronism, familial Endocrine
Hypertension, autosomal dominant Endocrine
Hypogonadotropic hypogonadism with or without anosmia Endocrine
Hypoparathyroidism, sensorineural deafness and renal dysplasia Endocrine
Kallmann syndrome Endocrine
Leydig cell hypoplasia Endocrine
Liddle syndrome Endocrine
Lowe oculocerebrorenal syndrome Endocrine
Luteinizing hormone resistance Endocrine
Multiple endocrine neoplasia type 1 (MEN1) Endocrine
Multiple endocrine neoplasia type 2 (MEN2) Endocrine
Paraganglioma and pheochromocytoma, Hereditary Endocrine
Premature ovarian failure Endocrine
Pseudohypoaldosteronism type 1 Endocrine
Short stature (WES) Endocrine
Testotoxicosis, familial Endocrine
Ulnar-mammary syndrome Endocrine
Von Hippel-Lindau syndrome Endocrine
Y-chromosomal aberrations Endocrine
Abnormal sexual development Fertility and pregnancy
Congenital uni/bilateral agenesis vas deferens (CBAVD/CUAVD) Fertility and pregnancy
Healthy individual Fertility and pregnancy
Live/still birth, with malformation of the fetus Fertility and pregnancy
Premature ovarian insufficiency Fertility and pregnancy
Y-chromosomal aberrations Fertility and pregnancy
Arthrogryposis, renal dysfuntion and cholestasis 2 Gastric-Intestinal-Liver
Congenital chloride diarrhea Gastric-Intestinal-Liver
Dyskeratosis congenita Gastric-Intestinal-Liver
Gilbert syndrome Gastric-Intestinal-Liver
Hypomagnesemia, intestinal Gastric-Intestinal-Liver
Pancreatitis Gastric-Intestinal-Liver
Polycystic liver disease Gastric-Intestinal-Liver
Alport syndrome Hearing impairment
Alstrom syndrome Hearing impairment
Auditory neuropathy Hearing impairment
BOR syndrome (Branchio-Oto-Renal dysplasia) Hearing impairment
Branchio-oculo-facio syndrome (BOF) Hearing impairment
CHARGE syndrome Hearing impairment
CHILD syndrome Hearing impairment
Chudley-McCullough syndrome Hearing impairment
Congenital aural atresia (CAA) Hearing impairment
Deafness (WES) Hearing impairment
Deafness, autosomal dominant Hearing impairment
Deafness, autosomal recessive Hearing impairment
Deafness, X-linked Hearing impairment
Donnai-Barrow syndrome Hearing impairment
Hidrotic Ectodermal Dysplasia (Clouston) Hearing impairment
Hypoparathyroidism, sensorineural deafness and renal dysplasia Hearing impairment
Jervell and Lange-Nielsen syndrome Hearing impairment
Joubert syndrome Hearing impairment
Keratitis-ichthyosis-deafness syndrome Hearing impairment
LEOPARD syndrome Hearing impairment
Macrothrombocytopenia and progressive sensorineural deafness Hearing impairment
Megaloblastic anemia syndrome Hearing impairment
Microtia, hearing impairment, and cleft palate Hearing impairment
Muckle-Wells syndrome Hearing impairment
Multiple endocrine neoplasia type 2 (MEN2) Hearing impairment
Multiple synostosis syndrome Hearing impairment
Orofaciodigital syndrome Hearing impairment
Paraganglioma and pheochromocytoma, Hereditary Hearing impairment
Pendred syndrome Hearing impairment
Renal tubular acidosis with deafness Hearing impairment
SeSAME syndrome Hearing impairment
Simpson-Golabi-Behmel syndrome Hearing impairment
Sotos syndrome Hearing impairment
Stickler syndrome Hearing impairment
Treacher Collins-Franceschetti syndrome Hearing impairment
Usher syndrome Hearing impairment
Waardenburg syndrome Hearing impairment
Wolfram syndrome (DIDMOAD) Hearing impairment
Anemia Hematological, hereditary
Arthrogryposis, renal dysfuntion and cholestasis 2 Hematological, hereditary
Capillary malformation-arteriovenous malformation Hematological, hereditary
Coagulation factor deficiency Hematological, hereditary
Dyskeratosis congenita Hematological, hereditary
Epstein syndrome Hematological, hereditary
Fechtner syndrome Hematological, hereditary
Fibrinogenemia (a-, hypo-, dys-) Hematological, hereditary
Glanzmann thrombasthenia Hematological, hereditary
Glucocorticoid receptor deficiency Hematological, hereditary
Gray platelet syndrome Hematological, hereditary
Hemostatic/thrombotic disorders (WES) Hematological, hereditary
Hereditary angioedema Hematological, hereditary
Hyper-IgD syndrome Hematological, hereditary
May-Hegglin syndrome Hematological, hereditary
Platelet dysfunction, familial (with AML) Hematological, hereditary
Protein C deficiency Hematological, hereditary
Schimke immunoosseous dysplasia Hematological, hereditary
Scott syndrome Hematological, hereditary
Sebastian syndrome Hematological, hereditary
Thrombocytopenia, X-linked Hematological, hereditary
Thrombotic Thrombocytopenic Purpura (TTP) Hematological, hereditary
Von Willebrand disease Hematological, hereditary
Arthrogryposis, renal dysfuntion and cholestasis 2 Immunological, hereditary
Autoimmune disease Immunological, hereditary
Autoinflammation, antibody deficiency, and immune dysregulation syndrome Immunological, hereditary
Autoinflammatory syndrome Immunological, hereditary
Bloom syndrome Immunological, hereditary
C1q-deficiency Immunological, hereditary
Candidiasis, familial Immunological, hereditary
CINCA syndrome Immunological, hereditary
Dyskeratosis congenita Immunological, hereditary
Epidermodysplasia verruciformis Immunological, hereditary
GATA2-deficiency Immunological, hereditary
Glucocorticoid deficiecy Immunological, hereditary
Hyper-IgD syndrome Immunological, hereditary
Hyper-IgE syndrome Immunological, hereditary
Immunodeficiency, common variable with autoimmunity Immunological, hereditary
Infections, recurrent Immunological, hereditary
Leukocyte adhesion deficiency Immunological, hereditary
Metachondromatosis / Enchondromatosis Immunological, hereditary
Muckle-Wells syndrome Immunological, hereditary
Nijmegen breakage syndrome (NBS) Immunological, hereditary
Primary immunodeficiencies (WES) Immunological, hereditary
Schimke immunoosseous dysplasia Immunological, hereditary
WHIM syndrome Immunological, hereditary
Angelman syndrome Intellectual Disability
Bannayan-Riley-Ruvalcaba syndrome Intellectual Disability
Bardet-Biedl syndrome Intellectual Disability
Blepharophimosis-ptosis-intellectual disability syndrome Intellectual Disability
Cardio-Facio-Cutaneous syndrome (CFC) Intellectual Disability
CHARGE syndrome Intellectual Disability
CHILD syndrome Intellectual Disability
Ciliopathies (WES) Intellectual Disability
Cockayne syndrome Intellectual Disability
Coffin-Lowry syndrome Intellectual Disability
Coffin-Siris syndrome Intellectual Disability
Cohen syndrome Intellectual Disability
Congenital disorder of glycosylation Intellectual Disability
Cornelia de Lange syndrome Intellectual Disability
Costello syndrome Intellectual Disability
Cowden syndrome Intellectual Disability
Donnai-Barrow syndrome Intellectual Disability
Early infantile epileptic encephalopathy (EIEE) Intellectual Disability
Faciogenital dysplasia (Aarskog-Scott syndrome) Intellectual Disability
Floating-Harbor syndrome Intellectual Disability
Fragile X syndrome (FraX) Intellectual Disability
Frank-Ter Haar syndrome Intellectual Disability
Galloway-Mowat syndrome Intellectual Disability
Geleophysic dysplasia Intellectual Disability
Genitopatellar syndrome Intellectual Disability
Glutathione synthetase deficiency Intellectual Disability
GM1-gangliosidosis Intellectual Disability
Hyperfosfatasemia with intellectual disability Intellectual Disability
Hypochondroplasia Intellectual Disability
Intellectual disability (WES) Intellectual Disability
Intellectual disability, autosomal dominant Intellectual Disability
Intellectual disability, autosomal recessive Intellectual Disability
Intellectual disability, syndromal Intellectual Disability
Intellectual disability, X-linked Intellectual Disability
Joubert syndrome Intellectual Disability
Kabuki syndrome Intellectual Disability
KBG syndrome Intellectual Disability
Kleefstra syndrome (Chr 9q deletion) Intellectual Disability
Koolen-De Vries syndrome Intellectual Disability
Legius syndrome Intellectual Disability
LEOPARD syndrome Intellectual Disability
Lujan-Fryns syndrome Intellectual Disability
Mabry syndrome Intellectual Disability
MACS (Macrocefalic alopecia cutis laxa scoliosis) Intellectual Disability
Martsolf syndrome Intellectual Disability
Meckel syndrome Intellectual Disability
Microcephaly-capillary malformation syndrome Intellectual Disability
Microcephaly, chorioretinopathy, lymphedema, MR Intellectual Disability
Microphtalmia, syndromic Intellectual Disability
Mowat-Wilson syndrome Intellectual Disability
Myhre syndrome Intellectual Disability
Nijmegen breakage syndrome (NBS) Intellectual Disability
Noonan syndrome Intellectual Disability
Norrie disease Intellectual Disability
Oculo-digito-esophageal-duodenal syndrome (Feingold) Intellectual Disability
Ohdo syndrome Intellectual Disability
Opitz-Kaveggia syndrome Intellectual Disability
Orofaciodigital syndrome Intellectual Disability
Peters-plus syndrome Intellectual Disability
Prader-Willi syndrome Intellectual Disability
Rett syndrome Intellectual Disability
Rothmund-Thomson syndrome Intellectual Disability
Schaaf-Yang syndrome Intellectual Disability
Simpson-Golabi-Behmel syndrome Intellectual Disability
SNP array Intellectual Disability
Sotos syndrome Intellectual Disability
Vici syndrome Intellectual Disability
Anemia Iron disorders
Heme oxygenase I deficiency Iron disorders
Hemochromatosis, hereditary Iron disorders
Hemostatic/thrombotic disorders (WES) Iron disorders
Iron disorders (WES) Iron disorders
Cystic fibrosis (CF) Lung diseases
primary ciliary diskinesia Lung diseases
2-aminoadipic 2-oxoadipic aciduria Metabolic disorders
2p21 microdeletion syndrome Metabolic disorders
3-Methylcrotonyl-CoA carboxylase deficiency Metabolic disorders
3-Methylglutaconic aciduria Metabolic disorders
Abetalipoproteinemia Metabolic disorders
Acute Recurrent Myoglobinuria Metabolic disorders
Alkaptonuria Metabolic disorders
Aromatic L-amino acid decarboxylase deficiency Metabolic disorders
Aspartylglycosaminuria Metabolic disorders
Biotinidase deficiency Metabolic disorders
Butyrylcholinesterase deficiency Metabolic disorders
Carbamoylphosphate synthetase I deficiency Metabolic disorders
Carnitine deficiency Metabolic disorders
Carnitine Palmitoyltransferase deficiency Metabolic disorders
CDG alpha-mannosidase 1b1 deficiency Metabolic disorders
Cerebral creatine deficiency syndrome Metabolic disorders
Cholestasis Metabolic disorders
Combined malonic and methylmalonic aciduria Metabolic disorders
Congenital disorder of glycosylation Metabolic disorders
Diabetes mellitus Metabolic disorders
Dihydrolipoamide dehydrogenase deficiency Metabolic disorders
Dopamine beta-hydroxylase deficiency Metabolic disorders
Dystonia, dopamine responsive Metabolic disorders
Enolase deficiency Metabolic disorders
Epilepsy, pyridoxine-dependent Metabolic disorders
Extraoral halitosis Metabolic disorders
Fabry disease Metabolic disorders
Fructose intolerance Metabolic disorders
Fructose-1,6-bisphosphatase deficiency Metabolic disorders
Galactose epimerase deficiency Metabolic disorders
Galactosemia Metabolic disorders
Glyceraldehyde-3-phosphate dehydrogenase deficiency Metabolic disorders
Glycine N-methyltransferase deficiency Metabolic disorders
Glycogen storage disease Metabolic disorders
Glycogen storage disease Metabolic disorders
HDL deficiency Metabolic disorders
Hemolytic Anemia Metabolic disorders
Homocystinuria Metabolic disorders
Hyperhomocysteinemia Metabolic disorders
Hyperoxaluria Metabolic disorders
Hyperphenylalaninemia Metabolic disorders
Hyperprolinemia Metabolic disorders
Infantile neuroaxonal dystrophy Metabolic disorders
Infantile parkinsonism-dystonia Metabolic disorders
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Metabolic disorders
Intrinsic factor deficiency Metabolic disorders
Isovaleric acidemia Metabolic disorders
Lactase deficiency, congenital Metabolic disorders
Late-Onset Retinal Degeneration (L-ORD) Metabolic disorders
Lesch–Nyhan syndrome Metabolic disorders
Malate dehydrogenase deficiency Metabolic disorders
Maple Syrup Urine Disease Metabolic disorders
Medium chain Acyl-CoA Dehydrogenase deficiency Metabolic disorders
Megaloblastic anemia-1 Metabolic disorders
Metabolic disorders (WES) Metabolic disorders
Methylmalonic aciduria and homocystinuria Metabolic disorders
Methylmalonic aciduria, vitamin B12 unresponsive Metabolic disorders
Molybdenum cofactor deficiency Metabolic disorders
Myasthenic syndrome Metabolic disorders
Myofosforylase deficiency Metabolic disorders
N-acetylglutamate synthase deficiency Metabolic disorders
Niemann-Pick disease Metabolic disorders
Ornithine transcarbamylase deficiency Metabolic disorders
Orotic aciduria Metabolic disorders
Perrault syndrome Metabolic disorders
Phenylketonuria Metabolic disorders
Phosphatidylethanolamine N-methyltransferase deficiency Metabolic disorders
Phosphoglycerate kinase 1 deficiency Metabolic disorders
Phosphoglycerate mutase 1 deficiency Metabolic disorders
Propionic acidemia Metabolic disorders
Pyridoxamine 5'-phosphate oxidase deficiency Metabolic disorders
Pyruvate kinase deficiency Metabolic disorders
Retinitis Pigmentosa, autosomal recessive Metabolic disorders
Short chain Acyl-CoA dehydrogenase deficiency Metabolic disorders
Sialidosis Metabolic disorders
Sitosterolemia Metabolic disorders
Smith-Lemli-Opitz syndrome Metabolic disorders
STING-associated vasculopathy, infantile-onset Metabolic disorders
Succinyl CoA3-oxoacid CoA transferase deficiency Metabolic disorders
Tangier disease Metabolic disorders
Testis-Derived Transcript Metabolic disorders
Thiamine metabolism dysfunction syndrome Metabolic disorders
Trimethylaminuria Metabolic disorders
Very Long-Chain Acyl-CoA Dehydrogenase deficiency Metabolic disorders
3-Methylglutaconic aciduria Mitochondrial disorders
Aconitase deficiency Mitochondrial disorders
Alpha-keto acid dehydrogenase Mitochondrial disorders
Anemia Mitochondrial disorders
Brody myopathy Mitochondrial disorders
Cerebral creatine deficiency syndrome Mitochondrial disorders
Charcot-Marie-Tooth disease Mitochondrial disorders
Citrate synthase deficiency Mitochondrial disorders
Coenzyme Q10 deficiency Mitochondrial disorders
Complex (oxphos) deficiency, combined Mitochondrial disorders
Complex I deficiency Mitochondrial disorders
Complex II deficiency Mitochondrial disorders
Complex III deficiency Mitochondrial disorders
Complex IV deficiency Mitochondrial disorders
Complex V deficiency Mitochondrial disorders
Dihydrolipoamide dehydrogenase Mitochondrial disorders
Growth hormone deficiency Mitochondrial disorders
Hyperuricemia- pulmonary hypertension- renal failure and alkalosis Mitochondrial disorders
Hypomyelination Mitochondrial disorders
Isocitrate dehydrogenase deficiency Mitochondrial disorders
Leigh syndrome Mitochondrial disorders
Leukoencephalopathy Mitochondrial disorders
Lipoic acid synthase deficiency Mitochondrial disorders
Malate dehydrogenase deficiency Mitochondrial disorders
Megdel syndrome Mitochondrial disorders
Mitochondrial disorders (WES) Mitochondrial disorders
Mitochondrial DNA depletion syndrome Mitochondrial disorders
Mitochondrial PEPCK deficiency Mitochondrial disorders
Mitochondriopathy Mitochondrial disorders
Multiple mitochondrial dysfunctions syndrome Mitochondrial disorders
Ophthalmoplegia, chronic progressive (PEO) Mitochondrial disorders
Optic atrophy Mitochondrial disorders
Perrault syndrome Mitochondrial disorders
Prohibitin deficiency Mitochondrial disorders
Pyruvate carboxylase deficiency Mitochondrial disorders
Pyruvate dehydrogenase deficiency Mitochondrial disorders
Pyruvate dehydrogenase kinase deficiency Mitochondrial disorders
Pyruvate dehydrogenase phosphatase deficiency Mitochondrial disorders
Sengers syndrome Mitochondrial disorders
Spastic paraplegia, autosomal recessive Mitochondrial disorders
Thiamine metabolism dysfunction syndrome Mitochondrial disorders
3M Syndrome Multiple congenital anomalies (MCA)
46XY Sex reversal Multiple congenital anomalies (MCA)
acrocallosal syndrome Multiple congenital anomalies (MCA)
Acrofacial dysostosis Multiple congenital anomalies (MCA)
AEC syndrome Multiple congenital anomalies (MCA)
Alstrom syndrome Multiple congenital anomalies (MCA)
Angelman syndrome Multiple congenital anomalies (MCA)
Arthrogryposis, renal dysfuntion and cholestasis 2 Multiple congenital anomalies (MCA)
Arts syndrome Multiple congenital anomalies (MCA)
Asphyxiating thoracic dystrophy (Jeune syndrome) Multiple congenital anomalies (MCA)
Bannayan-Riley-Ruvalcaba syndrome Multiple congenital anomalies (MCA)
Baraitser-Winter syndrome Multiple congenital anomalies (MCA)
Bardet-Biedl syndrome Multiple congenital anomalies (MCA)
Basal cell nevus syndrome Multiple congenital anomalies (MCA)
Blepharophimosis, epicantus inversus and ptosis Multiple congenital anomalies (MCA)
Bohring-Opitz syndrome Multiple congenital anomalies (MCA)
Branchio-oculo-facio syndrome (BOF) Multiple congenital anomalies (MCA)
Brittle cornea syndrome Multiple congenital anomalies (MCA)
Brunner syndrome Multiple congenital anomalies (MCA)
Campomelic dysplasia Multiple congenital anomalies (MCA)
Cardio-Facio-Cutaneous syndrome (CFC) Multiple congenital anomalies (MCA)
Cerebrooculofacioskeletal syndrome Multiple congenital anomalies (MCA)
CHARGE syndrome Multiple congenital anomalies (MCA)
CHILD syndrome Multiple congenital anomalies (MCA)
Chondrodysplasia punctata Multiple congenital anomalies (MCA)
Ciliopathies (WES) Multiple congenital anomalies (MCA)
Cockayne syndrome Multiple congenital anomalies (MCA)
Coffin-Lowry syndrome Multiple congenital anomalies (MCA)
Coffin-Siris syndrome Multiple congenital anomalies (MCA)
Cohen syndrome Multiple congenital anomalies (MCA)
Cold-induced sweating syndrome Multiple congenital anomalies (MCA)
Congenital aural atresia (CAA) Multiple congenital anomalies (MCA)
Congenital cataracts with facial dysmorphism and neuropathy Multiple congenital anomalies (MCA)
Congenital contractures of the limbs and face (CLIFAHDD) Multiple congenital anomalies (MCA)
Congenital disorder of glycosylation Multiple congenital anomalies (MCA)
Cornelia de Lange syndrome Multiple congenital anomalies (MCA)
Costello syndrome Multiple congenital anomalies (MCA)
Craniofacial anomalies (WES) Multiple congenital anomalies (MCA)
Donnai-Barrow syndrome Multiple congenital anomalies (MCA)
Dravet syndrome Multiple congenital anomalies (MCA)
Duane-radial ray syndrome Multiple congenital anomalies (MCA)
Epilepsy with neurodevelopmental defects (EPND) Multiple congenital anomalies (MCA)
Faciogenital dysplasia (Aarskog-Scott syndrome) Multiple congenital anomalies (MCA)
Familial hyperphosphatemic tumoral calcinosis Multiple congenital anomalies (MCA)
Fibrochondrogenesis Multiple congenital anomalies (MCA)
Floating-Harbor syndrome Multiple congenital anomalies (MCA)
Frank-Ter Haar syndrome Multiple congenital anomalies (MCA)
Galloway-Mowat syndrome Multiple congenital anomalies (MCA)
Geleophysic dysplasia Multiple congenital anomalies (MCA)
Genitopatellar syndrome Multiple congenital anomalies (MCA)
Geroderma osteodysplasticum Multiple congenital anomalies (MCA)
GM1-gangliosidosis Multiple congenital anomalies (MCA)
Guttmacher syndrome Multiple congenital anomalies (MCA)
Hartsfield syndrome Multiple congenital anomalies (MCA)
Hereditary congenital facial paresis Multiple congenital anomalies (MCA)
Hidrotic Ectodermal Dysplasia (Clouston) Multiple congenital anomalies (MCA)
Holoprosencephaly Multiple congenital anomalies (MCA)
Hydrolethalus syndrome Multiple congenital anomalies (MCA)
Hydrolethalus syndrome Multiple congenital anomalies (MCA)
Hypertrophic osteoarthropathy, primary Multiple congenital anomalies (MCA)
Intellectual disability, autosomal dominant Multiple congenital anomalies (MCA)
Intellectual disability, autosomal recessive Multiple congenital anomalies (MCA)
Intellectual disability, syndromal Multiple congenital anomalies (MCA)
Intellectual disability, X-linked Multiple congenital anomalies (MCA)
IVIC syndrome Multiple congenital anomalies (MCA)
Joubert syndrome Multiple congenital anomalies (MCA)
Kabuki syndrome Multiple congenital anomalies (MCA)
KBG syndrome Multiple congenital anomalies (MCA)
Kleefstra syndrome (Chr 9q deletion) Multiple congenital anomalies (MCA)
Koolen-De Vries syndrome Multiple congenital anomalies (MCA)
Legius syndrome Multiple congenital anomalies (MCA)
LEOPARD syndrome Multiple congenital anomalies (MCA)
Limb-Mammary syndrome Multiple congenital anomalies (MCA)
Loeys-Dietz syndrome Multiple congenital anomalies (MCA)
Lowe oculocerebrorenal syndrome Multiple congenital anomalies (MCA)
Lujan-Fryns syndrome Multiple congenital anomalies (MCA)
macrocephaly / megalencephaly syndrome Multiple congenital anomalies (MCA)
MACS (Macrocefalic alopecia cutis laxa scoliosis) Multiple congenital anomalies (MCA)
Mandibulofacial dysostosis Multiple congenital anomalies (MCA)
Marinesco-Sjögren syndrome Multiple congenital anomalies (MCA)
Marshall syndrome Multiple congenital anomalies (MCA)
Marshall-Smith syndrome Multiple congenital anomalies (MCA)
McKusick-Kaufman syndrome Multiple congenital anomalies (MCA)
Meckel syndrome Multiple congenital anomalies (MCA)
Mendelian inherited disorders (WES) Multiple congenital anomalies (MCA)
Menkes disease Multiple congenital anomalies (MCA)
Microphtalmia, syndromic Multiple congenital anomalies (MCA)
Microphthalmia, isolated Multiple congenital anomalies (MCA)
Microtia, hearing impairment, and cleft palate Multiple congenital anomalies (MCA)
Mowat-Wilson syndrome Multiple congenital anomalies (MCA)
Multiple pterygium syndrome Multiple congenital anomalies (MCA)
Muscle-Eye-Brain disease Multiple congenital anomalies (MCA)
Myasthenic syndrome Multiple congenital anomalies (MCA)
Nance-Horan Syndrome Multiple congenital anomalies (MCA)
Nijmegen breakage syndrome (NBS) Multiple congenital anomalies (MCA)
Noonan syndrome Multiple congenital anomalies (MCA)
Norrie disease Multiple congenital anomalies (MCA)
Oculo-digito-esophageal-duodenal syndrome (Feingold) Multiple congenital anomalies (MCA)
Ohdo syndrome Multiple congenital anomalies (MCA)
Opitz G/BBB syndrome Multiple congenital anomalies (MCA)
Opitz-Kaveggia syndrome Multiple congenital anomalies (MCA)
Orofacial cleft Multiple congenital anomalies (MCA)
Orofaciodigital syndrome Multiple congenital anomalies (MCA)
Osteopathia striata with cranial sclerosis Multiple congenital anomalies (MCA)
Otospondylomegaepiphyseal dysplasia Multiple congenital anomalies (MCA)
Paget disease of bone 3 Multiple congenital anomalies (MCA)
Perlman syndrome Multiple congenital anomalies (MCA)
Peters-plus syndrome Multiple congenital anomalies (MCA)
Pitt-Hopkins syndrome (PTHS) Multiple congenital anomalies (MCA)
Polysyndactyly Multiple congenital anomalies (MCA)
Pontocerebellar hypoplasia Multiple congenital anomalies (MCA)
Prader-Willi syndrome Multiple congenital anomalies (MCA)
Primary failure of tooth eruption Multiple congenital anomalies (MCA)
PTEN Hamartoma Tumor syndrome Multiple congenital anomalies (MCA)
Rapp-Hodgkin syndrome Multiple congenital anomalies (MCA)
Rett syndrome Multiple congenital anomalies (MCA)
Roberts syndrome Multiple congenital anomalies (MCA)
Robinow syndrome Multiple congenital anomalies (MCA)
Rothmund-Thomson syndrome Multiple congenital anomalies (MCA)
Schaaf-Yang syndrome Multiple congenital anomalies (MCA)
Schinzel-Giedion syndrome Multiple congenital anomalies (MCA)
Sensenbrenner syndrome Multiple congenital anomalies (MCA)
SeSAME syndrome Multiple congenital anomalies (MCA)
Short rib polydactyly syndrome Multiple congenital anomalies (MCA)
SHORT syndrome Multiple congenital anomalies (MCA)
Short-rib thoracic dysplasia Multiple congenital anomalies (MCA)
Simpson-Golabi-Behmel syndrome Multiple congenital anomalies (MCA)
Sjogren-Larsson syndrome Multiple congenital anomalies (MCA)
Smith-Magenis syndrome Multiple congenital anomalies (MCA)
Smith-McCort dysplasia Multiple congenital anomalies (MCA)
SNP array Multiple congenital anomalies (MCA)
Split hand/foot malformation (SFHM) Multiple congenital anomalies (MCA)
Spondylocostal dysostosis Multiple congenital anomalies (MCA)
Spondyloepimetaphysal dysplasia Multiple congenital anomalies (MCA)
Spondyloepimetaphysal dysplasia Multiple congenital anomalies (MCA)
Spondyloepiphyseal dysplasia Multiple congenital anomalies (MCA)
Stickler syndrome Multiple congenital anomalies (MCA)
Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome Multiple congenital anomalies (MCA)
Thrombocytopenia-Absent Radius (TAR) syndrome Multiple congenital anomalies (MCA)
TP63 related disorders Multiple congenital anomalies (MCA)
Treacher Collins-Franceschetti syndrome Multiple congenital anomalies (MCA)
Trismus pseudocamptodactyly syndrome Multiple congenital anomalies (MCA)
Ulnar-mammary syndrome Multiple congenital anomalies (MCA)
van der Woude syndrome 2 Multiple congenital anomalies (MCA)
Vici syndrome Multiple congenital anomalies (MCA)
Walker-Warburg (-like) syndrome Multiple congenital anomalies (MCA)
Weaver syndrome Multiple congenital anomalies (MCA)
Weill-Marchesani syndrome Multiple congenital anomalies (MCA)
Werner syndrome Multiple congenital anomalies (MCA)
Wiedemann-Steiner syndrome Multiple congenital anomalies (MCA)
Acrodermatitis enteropathica Neurological
Adrenoleukodystrophy Neurological
Alexander disease Neurological
Alternating hemiplegia Neurological
Alzheimer disease Neurological
Amyloidosis Neurological
Amyotrophic lateral sclerosis Neurological
Aromatic L-amino acid decarboxylase deficiency Neurological
Ataxia + isolated vitamin E deficiency (AVED) Neurological
Ataxia and oculomotor apraxia Neurological
Ataxia-telangiectasia-like disorder Neurological
Ataxia, spastic, autosomal recessive Neurological
Basal ganglia calcification, idiopathic Neurological
Basilar migraine Neurological
Benign familial infantile seizures Neurological
Boucher-Neuhauser syndrome Neurological
CAPOS syndrome Neurological
Cerebrotendinous xanthomatosis Neurological
Charcot-Marie-Tooth disease Neurological
Chorea, hereditary, benign Neurological
Choreoathetosis, hypothyroidism and neonatal respiratory distress Neurological
Cognitive impairment with or without cerebellar ataxia Neurological
Complex II deficiency Neurological
Congenital indifference to pain Neurological
Congenital insensitivity to pain Neurological
Cortical dysplasia Neurological
Dejerine-Sottas Disease Neurological
Dopamine beta-hydroxylase deficiency Neurological
Dyskinesia Neurological
Dystonia Neurological
Dystonia, dopamine responsive Neurological
Epilepsy (WES) Neurological
Epilepsy with neurodevelopmental defects (EPND) Neurological
Epilepsy, Idiopathic Neurological
Epilepsy, myoclonic Neurological
Episodic ataxia Neurological
Episodic kinesigenic dyskinesia Neurological
Episodic pain syndrome Neurological
Erythermalgia, primary or idiopathic Neurological
Familial infantile convulsions with paroxysmal choreoathetosis Neurological
Febrile seizures Neurological
Fragile-X associated tremor ataxia syndrome Neurological
Friedreich Ataxia Neurological
Frontotemporal dementia Neurological
GLUT1 deficiency syndrome Neurological
Gyrate atrophy of choroid and retina Neurological
Hartsfield syndrome Neurological
Hemiplegic migraine Neurological
Hyperlysinemia Neurological
Hypomyelinating leukodystrophy Neurological
Hypotonia Neurological
Inflammatory demyelinating neuropathy Neurological
Kufor-Rakeb syndrome Neurological
Lissencephaly Neurological
Lowe oculocerebrorenal syndrome Neurological
Marinesco-Sjögren syndrome Neurological
Menkes disease Neurological
Microcephaly-capillary malformation syndrome Neurological
Motor neuropathy Neurological
Movement disorders (WES) Neurological
Muscle disorders (WES) Neurological
Neurodegeneration due to cerebral folate transport deficiency Neurological
Neurodegeneration with brain iron accumulation Neurological
Neuropathies (WES) Neurological
Parkinson disease (WES) Neurological
Parkinson's disease Neurological
Paroxysmal extreme pain disorder Neurological
Polymicrogyria Neurological
Polyneuropathy Neurological
Pontocerebellar hypoplasia Neurological
Primary lateral sclerosis Neurological
Recurrent neuropathy with pressure palsies Neurological
Rigidity and multifocal seizure syndrome Neurological
Ritscher-Schinzel syndrome Neurological
Roussy-Levy syndrome Neurological
Sandhoff disease Neurological
Schimke immunoosseous dysplasia Neurological
Sensory neuropathy Neurological
SeSAME syndrome Neurological
Short-rib thoracic dysplasia Neurological
Sjogren-Larsson syndrome Neurological
Small fiber neuropathy Neurological
Smith-Magenis syndrome Neurological
Sotos syndrome Neurological
Spastic paralysis, infantile onset ascending (IAHSP) Neurological
Spastic paraplegia, autosomal dominant Neurological
Spastic paraplegia, autosomal recessive Neurological
Spastic quadriplegic cerebral palsy Neurological
Spinal muscular atrophy Neurological
Spinocerebellar ataxia, aut. dominant Neurological
Spinocerebellar ataxia, autosomal recessive Neurological
Tay Sachs disease Neurological
Thiamine metabolism dysfunction syndrome Neurological
Wiedemann-Steiner syndrome Neurological
Bethlem myopathy Neuromuscular
Brody myopathy Neuromuscular
Central Core Disease Neuromuscular
Centronuclear myopathy Neuromuscular
Congenital myopathy Neuromuscular
Core myopathy Neuromuscular
Fibrosis of extraocular muscles, congenital Neuromuscular
Hyperkalemic periodic paralysis Neuromuscular
Hyperthermia, malignant Neuromuscular
Hypokalemic periodic paralysis Neuromuscular
Inclusion body myopathy Neuromuscular
Lethal congenital contracture syndrome Neuromuscular
Limb-girdle muscular dystrophy Neuromuscular
McLeod syndrome Neuromuscular
Multiminicore disease Neuromuscular
Muscle-Eye-Brain disease Neuromuscular
Myasthenic syndrome Neuromuscular
Myofibrillar myopathy Neuromuscular
Myotonia congenita Neuromuscular
Myotonic Dystrophy Neuromuscular
Nemaline myopathy Neuromuscular
Neutral lipid storage disease with myopathy Neuromuscular
Nonake myopathy Neuromuscular
Oculopharyngeal muscular dystrophy (OPMD) Neuromuscular
Paramyotonia congenita Neuromuscular
Polyglucosan body disease, adult form Neuromuscular
Polyglucosan body myopathy Neuromuscular
Proximal myopathy and ophthalmoplegia Neuromuscular
Rigid Spine Muscular Dystrophy Neuromuscular
Spinal muscular atrophy, distal Neuromuscular
Ullrich congenital muscular dystrophy Neuromuscular
Visceral myopathy Neuromuscular
Walker-Warburg (-like) syndrome Neuromuscular
ACTH-independent macronodular adrenal hyperplasia Oncogenetics
Baller-Gerold syndrome Oncogenetics
Bannayan-Riley-Ruvalcaba syndrome Oncogenetics
BAP1-tumor predisposition syndrome Oncogenetics
Bloom syndrome Oncogenetics
Breast and Ovary cancer, hereditary Oncogenetics
Cowden syndrome Oncogenetics
Desmoplastic medulloblastoma, hereditary Oncogenetics
DICER1 syndrome Oncogenetics
Dyskeratosis congenita Oncogenetics
Gastric cancer Oncogenetics
Hereditary cancer (WES) Oncogenetics
Leiomymatosis + kidney cancer Oncogenetics
Leukemia Oncogenetics
Li-Fraumeni syndrome Oncogenetics
Lynch syndrome (HNPCC) Oncogenetics
Mast cell disease Oncogenetics
Mismatch repair cancer syndrome Oncogenetics
Multiple endocrine neoplasia type 1 (MEN1) Oncogenetics
Multiple endocrine neoplasia type 2 (MEN2) Oncogenetics
Neurofibromatosis Oncogenetics
Nijmegen breakage syndrome (NBS) Oncogenetics
Paraganglioma and pheochromocytoma, Hereditary Oncogenetics
Peutz-Jeghers syndrome Oncogenetics
Platelet dysfunction, familial (with AML) Oncogenetics
Polyposis Oncogenetics
Predictive testing (cancer hotspot panel) Oncogenetics
PTEN Hamartoma Tumor syndrome Oncogenetics
Renal cancer, hereditary Oncogenetics
Renal cell carcinoma Oncogenetics
Rhabdoid tumor predisposition syndrome Oncogenetics
Rothmund-Thomson syndrome Oncogenetics
Schwannomatosis Oncogenetics
Somatic overgrowth and vascular malformations Oncogenetics
Tylosis with esophageal cancer Oncogenetics
Uveal melanoma, hereditary Oncogenetics
Von Hippel-Lindau syndrome Oncogenetics
Werner syndrome Oncogenetics
5-fluorouracil metabolism (pharmacogenetics) Pharmacogenetics
Asthma treatment (pharmacogenetics) Pharmacogenetics
Coumarin resistance (Pharmacogenetics) Pharmacogenetics
Cytochrome p450 genes (pharmacogenetics) Pharmacogenetics
G6PD hemolytic anemia (pharmacogenetics) Pharmacogenetics
Naltrexone metabolism (pharmacogenetics) Pharmacogenetics
Thiopurine metabolism (pharmacogenetics) Pharmacogenetics
Valproate metabolism (pharmacogenetics) Pharmacogenetics
ACTH-independent macronodular adrenal hyperplasia Renal / Nephrological
Alport syndrome Renal / Nephrological
Alstrom syndrome Renal / Nephrological
Amelogenesis imperfecta Renal / Nephrological
Arthrogryposis, renal dysfunction, and cholestasis Renal / Nephrological
Arthrogryposis, renal dysfuntion and cholestasis 2 Renal / Nephrological
Atypical Hemolytic Uremic Syndrome (aHUS) Renal / Nephrological
Bardet-Biedl syndrome Renal / Nephrological
Bartter syndrome Renal / Nephrological
BOR syndrome (Branchio-Oto-Renal dysplasia) Renal / Nephrological
Combined oxidative phosphorylation deficiency Renal / Nephrological
Cong. anomalies of kidney/urinary tract (CAKUT) Renal / Nephrological
Congenital dominant spinal muscular atrophy Renal / Nephrological
Corticosterone methyloxidase deficiency Renal / Nephrological
Cysteinuria/Cystinuria Renal / Nephrological
Dent's Disease (nephrolithiasis type 1) Renal / Nephrological
Denys-Drash syndrome Renal / Nephrological
Diabetes insipidus Renal / Nephrological
Donnai-Barrow syndrome Renal / Nephrological
Duane-radial ray syndrome Renal / Nephrological
Familial hyperphosphatemic tumoral calcinosis Renal / Nephrological
Familial Hypocalciuric Hypercalcemia Renal / Nephrological
Familial juvenile hyperuricemic nephropathy Renal / Nephrological
Fanconi renotubular syndrome Renal / Nephrological
Fanconi-Bickel syndrome Renal / Nephrological
Frasier syndrome Renal / Nephrological
Fumarase deficiency Renal / Nephrological
Gitelman syndrome Renal / Nephrological
Glomerulopathy with fibronectin deposits Renal / Nephrological
Glucocorticoid receptor deficiency Renal / Nephrological
Glucocorticoid Remediabel Aldosteronism Renal / Nephrological
Glutathione synthetase deficiency Renal / Nephrological
Hypocalcemia Renal / Nephrological
Hypomagnesemia, renal Renal / Nephrological
Hypoparathyroidism, sensorineural deafness and renal dysplasia Renal / Nephrological
Hypophosphatemic rickets Renal / Nephrological
Leiomymatosis + kidney cancer Renal / Nephrological
Liddle syndrome Renal / Nephrological
Lowe oculocerebrorenal syndrome Renal / Nephrological
Meckel syndrome Renal / Nephrological
Medullary Cystic Kidney disease Renal / Nephrological
Nail Patella syndrome Renal / Nephrological
Neonatal hyperparathyroidism Renal / Nephrological
Nephrogenic syndrome Renal / Nephrological
Nephrolithiasis/osteoporosis, hypophosphatemic Renal / Nephrological
Nephronophthisis Renal / Nephrological
Nephropathic cystinosis Renal / Nephrological
Nephrotic syndrome Renal / Nephrological
Osteopetrose with renal tubular acidosis Renal / Nephrological
Paraganglioma and pheochromocytoma, Hereditary Renal / Nephrological
Pseudohypoaldosteronism type 1 Renal / Nephrological
Pseudohypoaldosteronism type 2 Renal / Nephrological
Renal cancer, hereditary Renal / Nephrological
Renal cell carcinoma Renal / Nephrological
Renal disorders (WES) Renal / Nephrological
Renal glucosuria (GLYS1) Renal / Nephrological
Renal tubular acidosis with deafness Renal / Nephrological
Renal tubular acidosis, autosomal dominant Renal / Nephrological
Renal Tubular Dysgenesis Renal / Nephrological
Ritscher-Schinzel syndrome Renal / Nephrological
Senior-Loken syndrome Renal / Nephrological
SeSAME syndrome Renal / Nephrological
Von Hippel-Lindau syndrome Renal / Nephrological
Wilms tumor Renal / Nephrological
Xanthinuria Renal / Nephrological
Achondrogenesis Skeletal
Achondroplasia Skeletal
Atelosteogenesis Skeletal
Brachydactyly type b Skeletal
Brachyolmia Skeletal
C syndrome Skeletal
Calcification of joints and arteries Skeletal
Campomelic dysplasia Skeletal
Cantu syndrome Skeletal
Chudley-McCullough syndrome Skeletal
Cranioectodermal dysplasia Skeletal
Craniofrontonasal syndrome (CFNS) Skeletal
Craniosynostosis Skeletal
Diastrophic dysplasia Skeletal
Distal arthrogryposis Skeletal
Faciogenital dysplasia (Aarskog-Scott syndrome) Skeletal
hand-foot-genital syndrome Skeletal
Hartsfield syndrome Skeletal
Hypertrophic osteoarthropathy, primary Skeletal
Hypophosphatasia Skeletal
Klippel-Feil syndrome Skeletal
LEOPARD syndrome Skeletal
Lethal congenital contracture syndrome Skeletal
Meier-Gorlin syndrome Skeletal
Metachondromatosis / Enchondromatosis Skeletal
Metatropic dysplasia Skeletal
Microcephalic osteodysplastic primordial dwarfism Skeletal
Microcephaly, primary Skeletal
Multiple epiphyseal dysplasia Skeletal
Multiple synostosis syndrome Skeletal
Nail Patella syndrome Skeletal
Oculodentodigital dysplasia (ODDD) Skeletal
Orofaciodigital syndrome Skeletal
Osteoarthritis with mild chondrodysplasia Skeletal
Osteochondritis dissecans Skeletal
Osteogenesis imperfecta Skeletal
Osteopetrosis Skeletal
Osteoporosis Skeletal
Osteoporosis-pseudoglioma syndrome (OPPG) Skeletal
Patella malformation syndrome Skeletal
Polysyndactyly Skeletal
Primary hypertrophic osteoarthropathy Skeletal
Proximal symphalangism (SYM1) Skeletal
Pycnodysostosis Skeletal
Robinow syndrome Skeletal
Schimke immunoosseous dysplasia Skeletal
Simpson-Golabi-Behmel syndrome Skeletal
Skeletal dysplasia Skeletal
Small Patella syndrome Skeletal
Spondyloepimetaphysal dysplasia Skeletal
Spondyloepiphyseal dysplasia Skeletal
Spondyloepiphyseal dysplasia tarda (SEDT) Skeletal
Stickler syndrome Skeletal
Thanatofore dysplasia Skeletal
Torg-Winchester syndrome Skeletal
Trichodontoosseus syndrome Skeletal
Van den Ende-Gupta syndrome Skeletal
Wiedemann-Steiner syndrome Skeletal
Acral peeling skin syndrome Skin
Acrodermatitis enteropathica Skin
Alopecia universalis Skin
Arthrogryposis, renal dysfuntion and cholestasis 2 Skin
Basan syndrome Skin
Birt-Hogg-Dubé syndrome Skin
Buschke-Ollendorff syndrome Skin
C1q-deficiency Skin
Chanarin-Dorfman syndrome Skin
CHILD syndrome Skin
CLOVE(S) syndrome/ macrodactyly Skin
Cowden syndrome Skin
Cutaneous malignant melanoma Skin
Cutis laxa (elastolysis), autosomal recessive Skin
Cutis laxa, autosomal dominant Skin
Darier-White Skin
Distal arthrogryposis Skin
Dowling-Degos Skin
Dyskeratosis congenita Skin
Dystrophic epidermolysis bullosa Skin
Ehlers-Danlos syndrome Skin
Epidermolytic ichthyosis Skin
Erythrokeratodermia variabilis Skin
Focal dermal hypoplasia Skin
Focal palmoplantar keratoderma Skin
Glucocorticoid deficiecy Skin
Hailey-Hailey Skin
Hennekam syndrome Skin
Hereditary lymphedema Skin
Hypertrophic osteoarthropathy, primary Skin
Hypotrichosis Marie Unna Skin
Ichthyosis Skin
Ichthyosis prematurity syndrome Skin
Ichthyosis vulgaris/Atopic dermatitis Skin
Ichthyosis-hypotrichosis-sclerosing-cholangitis Skin
Keratitis-ichthyosis-deafness syndrome Skin
Lowe oculocerebrorenal syndrome Skin
Lymphedema-distichiasis syndrome Skin
Mal de Meleda Skin
Melanoma-pancreatic cancer syndrome Skin
Milroy-like lymphedema Skin
Monilethrix Skin
Multiple cutaneous and mucosal venous malformations Skin
Nonne-Milroy lymphedema Skin
Odonto onychodermal dysplasia Skin
Oligodontia and colorectal cancer Skin
Pachyonychia congenita Skin
Palmoplantar keratoderma Skin
Palmoplantar keratoderma Skin
Papillon-Lefevre syndrome Skin
Papillon-Lefevre syndrome Skin
Piebaldism Skin
Pityriasis rubra pilaris Skin
Primary hypertrophic osteoarthropathy Skin
Proteus syndroom Skin
Sjogren-Larsson syndrome Skin
Skin disorders (WES) Skin
Sneddon syndrome Skin
Somatic overgrowth and vascular malformations Skin
Sturge-Weber syndrome Skin
Tooth Agenesis Skin
Torg-Winchester syndrome Skin
Vohwinkel syndrome with ichthyosis Skin
Witkop syndrome Skin
Abetalipoproteinemia Vision impairement / blindness
Achromatopsia Vision impairement / blindness
Age-related Macular Degeneration (AMD) Vision impairement / blindness
Alstrom syndrome Vision impairement / blindness
Aniridia Vision impairement / blindness
Bardet-Biedl syndrome Vision impairement / blindness
Basal Laminar Drusen Vision impairement / blindness
Bestrophinopathy Vision impairement / blindness
Bietti crystalline corneoretinal dystrophy Vision impairement / blindness
Blue cone monochromacy Vision impairement / blindness
Bothnia retinal dystrophy Vision impairement / blindness
Boucher-Neuhauser syndrome Vision impairement / blindness
Branchio-oculo-facio syndrome (BOF) Vision impairement / blindness
CAPOS syndrome Vision impairement / blindness
Central Areolair Chorioid Dystrophy Vision impairement / blindness
CHARGE syndrome Vision impairement / blindness
Choroideremia Vision impairement / blindness
Color blindness, red/green Vision impairement / blindness
Cone dystrophy Vision impairement / blindness
Cone-rod dystrophy (CRD) Vision impairement / blindness
Congenital cataracts with facial dysmorphism and neuropathy Vision impairement / blindness
Congenital disorder of glycosylation Vision impairement / blindness
Congenital stationary night blindness Vision impairement / blindness
Cornea plana congenita Vision impairement / blindness
Donnai-Barrow syndrome Vision impairement / blindness
Enhanced S-cone syndrome Vision impairement / blindness
Exsudative Vitreoretinopathy Vision impairement / blindness
Fleck retina, familial benign Vision impairement / blindness
Fundus albipunctatus Vision impairement / blindness
Glaucoma Vision impairement / blindness
Gyrate atrophy of choroid and retina Vision impairement / blindness
Leber Congenital Amaurosis Vision impairement / blindness
Macula dystrophy Vision impairement / blindness
Macular corneal dystrophy type 1 Vision impairement / blindness
Malattia Leventinese Vision impairement / blindness
Marinesco-Sjögren syndrome Vision impairement / blindness
Microphtalmia, syndromic Vision impairement / blindness
Nance-Horan Syndrome Vision impairement / blindness
Norrie disease Vision impairement / blindness
Oculodentodigital dysplasia (ODDD) Vision impairement / blindness
Optic atrophy Vision impairement / blindness
Osteoporosis-pseudoglioma syndrome (OPPG) Vision impairement / blindness
Papillorenal syndrome Vision impairement / blindness
Retinal macular dystrophy Vision impairement / blindness
Retinitis Pigmentosa, autosomal dominant Vision impairement / blindness
Retinitis Pigmentosa, autosomal recessive Vision impairement / blindness
Retinitis punctata albescens Vision impairement / blindness
Schimke immunoosseous dysplasia Vision impairement / blindness
Senior-Loken syndrome Vision impairement / blindness
Sjogren-Larsson syndrome Vision impairement / blindness
Stargardt disease Vision impairement / blindness
Stickler syndrome Vision impairement / blindness
Tay Sachs disease Vision impairement / blindness
Treacher Collins-Franceschetti syndrome Vision impairement / blindness
Usher syndrome Vision impairement / blindness
Uveal melanoma, hereditary Vision impairement / blindness
Vision disorders (WES) Vision impairement / blindness
Vitelliform Macular Dystrophy Vision impairement / blindness
Vitreoretinochoroidopathy Vision impairement / blindness
Von Hippel-Lindau syndrome Vision impairement / blindness
Wagner disease Vision impairement / blindness
Weill-Marchesani syndrome Vision impairement / blindness
Wolfram syndrome (DIDMOAD) Vision impairement / blindness