Enzyme Deficiencies

45,X with Mosaicism Albright Hereditary Osteodystrophy Alkaptonuria alpha-dystroglycanopathies Becker Dystrophy Beckwith-Wiedemann Syndrome Bethlehem Dystrophy Birt-Hogg-Dube syndrome BRCA1 and BRCA2 Cayler Cardio-Facial Syndrome Channelopathy Congenital Heart Disease Corneal Dystrophy Cornelia de Lange Syndrome Cri Du Chat Syndrome Crigler-Najjar Cystic Fibrosis De Barsy Syndrome DiGeorge Syndrome Down Syndrome Duchenne Muscular Dystrophy Ehlers Danlos Syndrome Enzyme Deficiencies Familial Adenomatous Polyposis Familial Aldosteronism Familial Combined Hyperlipidemia Familial Htpertriglyceridemia Familial Hypercholesterolemia Familial Hypoalphalipoproteinemia Familial Hypocalciuric Hypercalcemia Fragile X Syndrome Friedreich Ataxia Fuchs Endothelial Corneal Dystrophy Gardenr Syndrome Genetic Kidney Disease Gilbert Syndrome Gorlin-Goltz Syndrome Growth Failure Hereditary Angioedema Hereditary Ataxia Homocystinuria Human Leukocyte Antigen B27 Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Enzyme Deficiency Inborn Errors of Metabolism Infantile Refsum Disease (IRD) Kartagener Syndrome Lesch-Nyhan Syndrome Liddle Syndrome Liver Disease Lucy-Driscoll Syndrome Lynch Syndrome Lysosomal Storage Disease Lysosomal Storage Diseases Marfan Syndrome Metabolic Myopathy Mitochondrial Disorders Monosomy X (45,XO) Multiple Endocrine Neoplasia 1 Muscular Dystrophy Myotonic Dystrophy Neonatal Adrenoleukodystrophy (NALD) Neurocognitive Deficits Ophthalmologic Abnormalities Plummer-Vinson Syndrome Pseudohypoparathyroidism Respiratory Diseases Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1) Sex Chromosome Trisomy Situs Inversus Totalis Skeletal Anomalies Spinocerebellar Ataxia Tuberous Sclerosis Turcot Syndrome Von Hippel-Lindau Syndrome X-Linked Disorders XYY Zellweger Syndrome