Non-syndromic deafness |
Sudden Deafness Syndrome |
Usher Syndrome |
Breast Neoplasm (Family) |
BAP1 – Tumor Predisposition Syndrome |
Colorectal Neoplasm (Family) |
Cowden’s Syndrome |
Hereditary Cancer Predisposition Syndrome |
Hereditary Tyrosinemia Type 1 |
Li-Fraumeni Syndrome |
Lynch Syndrome |
Retinoblastoma |
Tumor predisposition syndrome (BAP1) |
Brugada Syndrome |
Familial Hyperlipoproteinemia Type III |
Familial Hypertrophic Cardiomyopathy |
Jervell and Lange-Nielsen Syndrome |
Progressive Familial Heart Block |
Romano-Ward Syndrome |
Sinus Nodule Syndrome |
MODY Type 3 Diabetes |
MODY Type 4 Diabetes |
MODY Type 5 Diabetes |
MODY Type 6 Diabetes |
MODY Type Diabetes |
Alagille Syndrome (Arteriohepatic Dysplasia) |
Congenital Lactase Deficiency |
Congenital diarrhea |
Cystic fibrosis |
Dubin-Johnson Syndrome |
Familial Intrahepatic Cholestasis |
Family diarrhea |
Irritable Bowel Syndrome |
Juvenile Polyposis Syndrome |
Trichohepatoenteric Syndrome (THE) |
Type 1 Progressive Intrahepatic Cholestasis |
Type 2 Progressive Intrahepatic Cholestasis |
Type 3 Progressive Intrahepatic Cholestasis |
Type 4 Progressive Intrahepatic Cholestasis |
Williams Syndrome |
Achondroplasia |
Adrenoleukodystrophy |
Alpha Antitrypsin Deficiency (AAT) |
Alpha-1 Antitrypsin Deficiency |
Alport’s Syndrome |
Angelman Syndrome |
Axenfeld Rieger Syndrome |
Bardet-Biedl Syndrome |
Berardinelli-Seip Syndrome |
Blau’s Syndrome |
Blepharophimosis Syndrome |
Bloom Syndrome |
Branched Chain Amino Acid Dehydrogenase Kinase Deficiency |
Cardio-facio-cutaneous syndrome |
Carpenter’s Syndrome |
Cat’s Eye Syndrome |
Char syndrome |
Cockayne’s Syndrome |
Cohen’s Syndrome |
Costello Syndrome |
Doors Syndrome |
Down’s syndrome |
Ellis Van Creveld Syndrome |
Epilepsy Responsive to pyridoxine |
Fabry disease |
Familial Adenomatous Polyposis |
Familial Amyloidotic Polyneuropathy (FAP) |
Familial Dysautonomy (Riley-Day Syndrome) |
Familial Glucocorticoid Deficiency (DFG) |
Familial cold autoinflammatory syndrome (FCAS) |
Familial hypobetalipoproteinemia |
Family Mediterranean Fever |
Family Periodic Fever |
HNRNPH2 |
Hereditary Breast and Ovary Cancer Syndrome |
Hereditary angioedema |
Hermansky-Pudlak Syndrome – 1 |
Hermansky-Pudlak Syndrome – 4 |
Hermansky-Pudlak Syndrome – 6 |
Hurler’s Syndrome |
Hypereplexy |
Hyperimmunoglobulin E (Hyper IgE) Syndrome |
Hyperornithinemia-Hyperammonemia-Homocitrulinuria Syndrome |
Hypohydrotic Ectodermal Dysplasia |
Joubert Syndrome |
Kabuki Syndrome |
Kindler Syndrome |
Ligase 4 Deficiency Syndrome (LIG4) |
Lucey-Driscoll Syndrome |
Maple Syrup Urine Disease (Leucinosis) |
Marfan syndrome |
Metachromatic leukodystrophy |
Miller-Dieker Syndrome |
Morquio Syndrome |
Mucolipidosis Type 4 (Gangliosidosis) |
Mucopolysaccharidosis |
Mucopolysaccharidosis Type II |
Mucopolysaccharidosis Type IIIB |
Mucopolysaccharidosis Type IVA |
Multiple Sulphatase Deficiency (Austin’s Disease) |
Noonan’s Syndrome |
PANDAS Syndrome |
PTEN Tumor Hamartoma Syndrome |
Pfeiffer’s Syndrome |
Phelan-McDermid Syndrome |
Pigment Incontinence Syndrome |
Pontocerebellar Hypoplasia |
Prader-Willi Syndrome |
Primary Hyperoxaluria |
Proteus Syndrome |
Pseudo Arisulfatase A Deficiency |
Rasopathies |
Rett Syndrome |
Salla’s disease |
Schaaf-Yang Syndrome |
Schwartz Jampel Syndrome Type 1 |
Seckel’s Syndrome |
Selective IgA Deficiency |
Smith-Lemli-Opitz Syndrome |
Smith-Magenis Syndrome |
Sotos Syndrome |
Townes Syndrome |
Transthyretin-mediated Hereditary Amyloidosis (TTR) |
Treacher-Collins Syndrome |
Tuberous Sclerosis |
Type 0B Glycogenosis |
Type 1 Gaucher Disease |
Ubiquitins |
Upshaw Schulman Syndrome |
Van der Woude Syndrome |
Walker-Warburg Syndrome |
Weaver syndrome |
Weill-Marchesani Syndrome |
Werner’s Syndrome |
Wilson’s Disease |
Wiskott-Aldrich Syndrome |
Wolfram syndrome |
Zellweger Syndrome |
Afibrinogenemia |
Atypical Hemolytic Uremic Syndrome (aHUS) |
Beta Thalassemia |
Congenital Dyserythropoietic Anemia |
Fanconi’s anemia |
HDL Deficiency (Family) |
Hemochromatosis |
Hemophilia – Factor VIII Deficiency |
Hemophilia A |
Hereditary Stomatocytosis |
Intermediate Beta Thalassemia |
Sickle cell anemia |
Spherocytosis |
Thrombophilia (Factor V – Protein C) |
X-linked agammaglobulinemia |
Fragile X Syndrome |
Friedreich’s Ataxia |
Pompe disease |
5α-Reductase |
Aromatase Deficiency |
Autoimmune Lymphoproliferative Syndrome (ALPS) |
Congenital Erythropoietic Porphyria (Gunther’s Disease) |
Familial hemophagocytic lymphohistiocytosis (HLH) |
Neurofibromatosis |
Severe Combined Immunodeficiency Syndrome |
Type 2 X-linked Lymphoproliferative Syndrome |
X-linked Lymphoproliferative Syndrome (XLP) |
Sjogren’s Syndrome |
Yao’s Syndrome |
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency |
Mitochondrial Complex Deficiency 1 |
Becker Muscular Dystrophy |
Duchenne Muscular Dystrophy |
Emery-Dreifuss Muscular Dystrophy |
Hypotonia in Down Syndrome |
Leigh’s Syndrome |
Malignant Hyperthermia |
Melas Syndrome |
Muscular Dystrophy – Congenital Dystroglycanopathy |
Myasthenia Grave |
Becker Muscular Dystrophy |
Duchenne Muscular Dystrophy |
Emery-Dreifuss Muscular Dystrophy |
Hypotonia in Down Syndrome |
Leigh’s Syndrome |
Malignant Hyperthermia |
Melas Syndrome |
Muscular Dystrophy – Congenital Dystroglycanopathy |
Myasthenia Grave |
Canavan disease |
Charcot-Marie Disease |
Congenital Central Hypoventilation |
Huntington’s Disease |
Louis-Bar Syndrome (Ataxia Telangiectasia) |
Pick’s Disease |
Spinocerebellar Ataxia |
Tay-Sachs disease |
Torsional dystonia |
Wolfram Syndrome-1 |
GLUT1 Deficiency Syndrome |
West syndrome |
Antley-Bixley Syndrome with Genital Anomaly |
Restless Legs Syndrome (Willis-Ekbom disease) |
Tourette’s Syndrome |
Perrault Syndrome |
Polycystic Ovary Syndrome |
Hypochondroplasia |
Léri-Weill dyschondrosteosis |
Bartter’s Syndrome |
Familial Amyloid Nephropathy with Urticaria and Deafness |
Polycystic Kidney Disease (DRP) |
Renal agenesis |
Choroideremia |
Dry Eye Syndrome |
Knobloch Syndrome |
Stickler Syndrome |
Biotinidase Deficiency |