Primary Conditions of Interest (CF) Cystic Fibrosis 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 2,4-Dienoyl-CoA Reductase Deficiency (DECRD) 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency 22q11.2 deletion syndrome/DiGeorge syndrome/Velocardiofacial syndrome 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH) 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency 3-Methylglutaconic Aciduria Type I 3-Methylglutaconic Aciduria Type VII (MGCA7) 46,XY Disorder of Sex Development 46,XY Gonadal Dysgenesis (SRY-related) 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related) 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related) 5-Alpha Reductase Deficiency 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency Achalasia-Addisonianism-Alacrima Achondrogenesis Achondroplasia (ACH) Achromatopsia Acid Sphingomyelinase Acral Peeling Skin Syndrome Acro-Renal-Ocular syndrome Acrofacial Dysostosis AD nocturnal frontal lobe epilepsy (ADNFLE) Adams-Oliver syndrome Adenosine Deaminase Deficiency Adenosuccinate lyase def (MR and ASD) Adenylosuccinate Lyase Deficiency ADNP syndrome Adrenal Hypoplasia Congenita (AHC), X-linked Adult-onset autosomal dominant leukodystrophy (ADLD) Agammaglobulinemia, X-linked Aicardi-Goutieres Syndrome Al-Awadi-Raas-Rothschild syndrome Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR) Alagille syndrome Albinism and Deafness (COMMAD) Albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness (ABCD) syndrome Alexander Disease All Allgrove Syndrome Alpers syndrome (Alpers-Huttenlocher syndrome) Alpha-1 Antitrypsin Deficiency Alpha-Dystroglycanopathies Alpha-Methylacyl-CoA Racemase Deficiency Alpha-Thalassemia Intellectual Disability Syndrome Alport Syndrome Alstrom Syndrome Alzheimer Disease Ambiguous external genitalia Amish Lethal Microcephaly Amyotrophic lateral sclerosis (ALS) Anauxetic Dysplasia Andersen-Tawil Syndrome Androgen Insensitivity Syndrome (AIS) Angelman syndrome (AS) Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type) Aniridia Anophthalmia Anterior segment anomalies with or without cataract Anterior Segment Dysgenesis Anterior segment Dysgenesis 7, with Sclerocornea Warburg Micro Syndrome Antley-Bixler Syndrome (ABS) APECED Apert Syndrome APRT Deficiency AR Deafness Ar Pitt-Hopkins-like MR, AR focal epilepsy (Amish) Arginase Deficiency Argininosuccinic Aciduria Aromatase Deficiency Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Arterial Tortuosity syndrome Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis multiplex congenita Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome Arts Syndrome Aspartylglucosaminuria Ataxia Ataxia with oculomotor apraxia Ataxia-telangiectasia Atrial Septal Defect Atrioventricular Canal Defect Atrioventricular Septal Defect Attenuated Familial Adenomatous Polyposis (AFAP) Atypical parkinsonism Atypical Rett Syndrome Auditory Neuropathy, Autosomal Dominant, 1 Auditory neuropathy, autosomal recessive, 1/ DFNB9 Autism spectrum disorders Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA) Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB) Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Autoimmune Polyglandular Syndrome Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Congenital Ichthyosis Autosomal recessive mental retardation with ovarian failure Autosomal Recessive Polycystic Kidney Disease Axenfeld-Rieger Syndrome Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N) Bainbridge-Ropers syndrome Bannayan-Riley-Ruvalcaba Syndrome Baraitser-Winter Syndrome Baraitser-Winter syndrome 2/ DFNA20/ DFNA26 Bardet-Biedl Syndrome Bart-Pumphrey Syndrome/ DFN3A/ DFNB1A/ Hystrix-like Ichthyosis with deafness Barth Syndrome Bartter Syndrome Bartter Syndrome/ SNHL Basal cell nevus syndrome Beare-Stevenson Cutis Gyrata Syndrome Becker Muscular Dystrophy (BMD) Benign brain tumors Benign Familial Infantile Seizures (BFIS) Benign Familial Neonatal Seizures (BFNS) Benign Familial Neonatal-Infantile Seizures (BFNIS) Benign Recurrent Intrahepatic Cholestasis (BRIC) Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2) Bent Bone Dysplasia Best Vitelliform Macular Dystrophy Bestretinopathy Bestrophinopathy, Autosomal Recessive Beta-Ketothiolase Deficiency Biopterin Metabolism Biotin-responsive Basal Ganglia Disease Biotinidase Deficiency Birt-Hogg-Dube Syndrome Bjornstad Syndrome Blackfan-Diamond Syndrome Bloom Syndrome Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Bothnia retinal dystrophy Bradykinesia Brain Cancer Branchiooculofacial Syndrome Branchiootic Syndrome Branchiootic syndrome 3/ DFNA23 Branchiootorenal (BOR) Syndrome Branchiootorenal Syndrome Branchiootorenal Syndrome 1, Anterior Segment Anomalies, with or without Cataracts Branchiootorenal syndrome 2 Breast Cancer Brittle Cornea syndrome Brody Disease Brown-Vialetto-Van Laere Syndrome Bruck syndrome Brugada Syndrome Bruton type agammaglobulinemia Bulbospinal Muscular Atrophy, X-linked Bullous Ichthyosiform Erythroderma CA II Deficiency Cabezas syndrome CADASIL Caffey disease Campomelic Dysplasia (CD) Canavan Disease Candidate Gene for Hearing Loss Cantu Syndrome Capillary Malformation-Arteriovenous Malformation syndrome (CV-AVM) CARASIL Cardio-Facio-Cutaneous Syndrome Cardiofaciocutaneous Syndrome Carney Complex Carnitine Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase IA Deficiency Carnitine Palmitoyltransferase II (CPT2) Deficiency Carpenter Syndrome Carrier/Variant-Specific Testing Carrier/Variant-Specific Testing - mtDNA Variants Carrier/Variant-Specific Testing - Nuclear Variants Cartilage-Hair Hypoplasia Cataract Cataract 1, with or without Micorcornea Cataract 15, multiple types Cataract 19, multiple types Cataract 21 Cataract 30 Cataract 36 Cataract 40 Cataract 41 Cataract 43 Cataract 45 Cataract 47, juvenile, with Microcornea Cataract 5 Cataract and Microcornea Cataract and Microphthalmia Cataract-Microcornea Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Cenani-Lenz syndrome Central Core Disease Central Hypoventilation Syndrome Centronuclear Myopathy Cerebellar Ataxia Cerebellar atrophy Cerebellar Hypoplasia Cerebellar stroke Cerebral Cavernous Malformation (CCM) Cerebral Creatine Deficiency Syndrome-1 (CCDS1) Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma (CEDNIK) Syndrome Cerebral Palsy Cerebrotendinous xanthomatosis (CTX) CFTR-Related Disorders (CFTR-RD) CFTR-Related Metabolic Syndrome (CRMS) Chanarin-Dorfman syndrome Char Syndrome Charcot Marie Tooth (CMT) Charcot-Marie-Tooth disease type 1A/ Charcot-Marie-Tooth disease type 1E/ Dejerine-Sottas disease/ Inflammatory Demyelinating Neuropathy/ Recurrent Neuropathy with Pressure Palsies/ Roussy-L Charcot-Marie-Tooth disease, axonal, type 2W/ Usher syndrome type 3B Charcot-Marie-Tooth disease, recessive intermediate, B/ DFNB89 Charcot-Marie-Tooth Disease, Type 2A2 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 CHARGE Syndrome Cherubism CHILD syndrome Chondrocalcinosis 2 Chondrodysplasia Punctata (CDPX1 and CDPX2) Chondrodysplasia Punctata, X-linked (Brachytelephalangic) Chorea Choroideremia Chromosomal Abnormalities Chromosome Abnormalities (Must indicate suspected mosaic chromosomal abnormality) Chronic Granulomatous Disease (CGD) Chronic Infantile Neurologic Cutaneous and Articular Syndrome Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO) Chronic Kidney Disease Risk Chronic or recurrent acute pancreatitis Chronic Progressive External Ophthalmoplegia (CPEO) Chudley-McCullough syndrome Ciliopathies Citrin deficiency CK Syndrome Classic Citrullinemia Classical Ehlers-Danlos syndrome Cleft lip and/or palate with mucous cysts of lower lip Clouston Syndrome CMT with Focal Segmental Glomerulosclerosis COACH Syndrome Coarctation of the Aorta Cobalamin Metabolism and Related Disorders Cockayne syndrome Coenzyme Q10 (CoQ10) Deficiency Coffin-Lowry Syndrome (CLS) Coffin-Siris syndrome Cohen Syndrome Collodion Baby Coloboma Colorectal Cancer Combined D-2- and L-2-Hydroxyglutaric Aciduria Combined dystonia Combined Malonic and Methylmalonic Aciduria (CMAMMA) Combined oxidative phosphorylation deficiency Combined pituitary hormone deficiency Combined Saposin Deficiency Complex I Deficiency Complex II Deficiency (MT-C2D) Complex III Deficiency Complex IV(Cytochrome C Oxidase) Deficiency Complex V (ATP Synthesis) Deficiency Complicated Hereditary Spastic Paraplegias Cone-Rod Dystrophy, Autosomal Dominant Cone-Rod Dystrophy, Autosomal Recessive Cone-rod Synaptic Disorder Congenital absence of the vas deferens (CAVD) Congenital Amegakaryocytic Thrombocytopenia (CAMT) Congenital Anomalies Congenital cataracts, hearing loss, and neurodegeneration Congenital Contractural Arachnodactyly Congenital deafness with Labyrinthine Aplasia, Microtia ,and Microdontia (LAMM) Congenital Disorder of Glycosylation Congenital Heart Defect Congenital Hypotonia Congenital Ichthyosiform Erythroderma, Non-Bullous Congenital Insensitivity to Pain (CIP) Congenital Insensitivity to Pain with Anhidrosis Congenital Muscular Dystrophy (CMD) Congenital Myasthenia Syndrome Congenital Myopathies Congenital Nystagmus, X-linked Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD) Congenital Stationary Night Blindness, Autosomal Dominant Congenital Stationary Night Blindness, Autosomal Recessive Congenital Stationary Night Blindness, X-Linked CopyDx/MLPA Testing Cornelia de Lange Syndrome Cortical Brain Malformations Costello Syndrome Cousin syndrome Cowden Syndrome Craniofacial-deafness-hand Syndrome Craniofrontonasal syndrome Craniometaphyseal Dysplasia Craniosynostosis CRASH Syndrome Creatine Deficiency Syndromes Crouzon Syndrome (with or without Acanthosis Nigricans) Cutaneous Mastocytosis Cutis Laxa Cutis Laxa, Autosomal Dominant Cyclic Neutropenia Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Cytochrome P450 Oxidoreductase (POR) Deficiency Danon Disease Darier Disease DDX3X-related Disorder Deafness and Myopia Deafness, Congenital Heart Defects, and Posterior Embryotoxon Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (DOORS) Deafness-Infertility Syndrome Dementia Dent Disease Dent Disease 2 Dentatorubral-Pallidoluysian Atrophy Dentinogenesis Imperfecta and Deafness Developmental Delay Developmental Eye Disorders Dextrocardia DFNA1 DFNA15 DFNA22/ DFNB37 DFNA25 DFNA2A DFNA36/ DFNB7 DFNA3B/ DFNB1B/ Digenic Deafness DFNA40 DFNA41 DFNA44 DFNA48/ DFNB62 DFNA4B DFNA5 DFNA50 DFNA51 DFNA64 DFNA66 DFNA67 DFNA68 DFNA69 DFNA70 DFNA9 DFNB102 DFNB103 DFNB104 DFNB105 DFNB15 DFNB16 DFNB18B DFNB22 DFNB24 DFNB28 DFNB29 DFNB3 DFNB30 DFNB35 DFNB36 DFNB39 DFNB4 Nonsyndromic Hearing Loss and Deafness DFNB42 DFNB49 DFNB59 DFNB6 DFNB61 DFNB63 DFNB66 DFNB68 DFNB70 DFNB77 DFNB79 DFNB8/ DFNB10 DFNB84A DFNB84B DFNB88 DFNB93 DFNB98 DFNX1 / Charcot-Marie-Tooth disease-5/ Arts syndrome DFNX2 DFNX4 DFNX6 Diabetes and Hearing Loss Diamond-Blackfan Anemia DiGeorge syndrome Dihydrolipoamide Dehydrogenase Deficiency Dihydropteridine Reductase (DHPR) Deficiency Dilated Cardiomyopathy (DCM) Dimethylglycine Dehydrogenase Deficiency Discordant external genitalia Disorders impacting patients in the newborn to early childhood period of life Disseminated bronchiectasis Distal Arthrogryposis Distal Hereditary Motor Neuropathy Distal Renal Tubular Acidosis Dopa-Responsive Dystonia Dopa-responsive parkinsonism Double Outlet Right Ventricle DRLPA Duane-Radial Ray syndrome Duchenne Muscular Dystrophy (DMD) Dyskeratosis Congenita Dyslipidemia Dystonia Dystonia-deafness syndromes Dystrophia Myotonica Dystrophia Myotonica 2 Dystrophic Epidermolysis Bullosa (DEB) Dystrophinopathies Early-Onset Epileptic Encephalopathy and/or Infantile Spasms Ebstein Anomaly Ectodermal Dysplasia Ectrodactyly Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome Ectrodactyly/Split Hand-Split Foot Malformation Ehlers-Danlos Syndrome Ellis-van Creveld Syndrome Emery-Dreifuss Muscular Dystrophy (EDMD) Encephalopathy due to defective mitochondrial and peroxisomal fission Endocrine Tumor Endometrial Cancer Enhanced S-Cone Syndrome Epidermolysis Bullosa (EB) Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Simplex Epidermolysis Bullosa, Junctional Type Epidermolysis Bullosa, Junctional with Muscular Dystrophy Epidermolysis Bullosa, Junctional with Pyloric Atresia Epidermolytic Ichthyosis Epidermolytic Palmoplantar Keratoderma (EPPK) Epilepsy Epilepsy and Mental Retardation Limited to Females Epilepsy with Variable Learning and Behavioral Disorders Epileptic Encephalopathy Episodic Ataxia Episodic Pain Syndrome Type 3 Erythrokeratodermia Variabilis (EKV) Erythrokeratodermia variabilis et progressiva / DFNA2B/ DFNB1A/ Digenic Deafness Ethylmalonic Encephalopathy ExonArray Testing exudative vitreoretinopathy Fabry Disease Factor V Leiden-Related Thrombophilia Familial Adenomatous Polyposis (FAP) Familial Amyloid Polyneuropathy Familial Cold Autoinflammatory Syndrome Familial Cold Urticaria syndrome Familial Cutaneous Malignant Melanoma Familial Dysautonomia Familial Exudative Vitreoretinopathy Familial Hibernian Fever Familial Hypercholesterolemia Familial Hypocalciuric Hypercalcemia (FHH) Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Familial Isolated Hyperparathyroidism (FIHP) Familial Isolated Hypoparathyroidism (FIH) Familial Mediterranean Fever Familial Medullary Thyroid Cancer Familial Multiple Mole and Melanoma Syndrome Familial Progressive Hyperpigmentation with or without Hypopigmentation Familial Transthyretin Amyloidosis Fanconi-Bickel Syndrome Fatty Acid Oxidation Disorders Fazio-Londe Syndrome Feingold Syndrome Ferguson-Smith Disease Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome Fetus with ultrasound anomalies FG syndrome FGFR-Related Skeletal Dysplasias Fibrochondrogenesis Focal Dermal Hypoplasia Focal Segmental Glomerulosclerosis Focal segmental glomerulosclerosis 6 (FSGS6) Foveomacular Vitelliform Dystrophy, Adult-onset FOXG1 syndrome Fragile X Syndrome Fragile X type E Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) FRDA Free Sialic Acid Storage Disorders Friedreich Ataxia Friedreich Spinocerebellar Frontometaphyseal dysplasia Frontotemporal Dementia (FTD) Frontotemporal lobar degeneration (FTLD) Fucosidosis Fumarase Deficiency Fumarate Hydratase Deficiency Fundus Albipunctatus Fundus Flavimaculatus Galactokinase deficiency Galactosemia Gangliosidosis Gastrointestinal Stromal Tumor Gaucher Disease Gender Verification Generalized Atrophic Benign Epidermolysis Bullosa (GABEB) Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Genital ambiguity Genitopatellar syndrome Giant Axonal Neuropathy (GAN) Gitelman Syndrome Glaucoma, Juvenile Open Angle Glaucoma, Primary Congenital Glaucoma, Primary Open Angle Glucose Transporter Type I Deficiency Syndrome Glutaric Aciduria Type I Glutaric Aciduria Type II Glutathione Synthetase Deficiency (GSSD) Glycerol Kinase Deficiency Glycogen Storage Disease 0, Muscle (GSD0B) Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb Glycogen Storage Disease IV Glycogen Storage Disease IXc (GSD9C) Glycogen Storage Disease IXd (GDS9D) Glycogen Storage Disease Type II Glycogen Storage Disease Type IXa Glycogen Storage Disease Type IXb (GSD9B) Glycogen Storage Disease Type V (GSD V) Glycogen Storage Disease VII (GSD7) Glycogen Storage Disease X (GSD10) Glycogen Storage Disease XI (GSD11) Glycogen Storage Disease XII (GSD12) Glycogen Storage Disease XIII (GSD13) Glycogen Storage Disease XV (GSD15) GM1-Gangliosidosis GNE - Related Myopathy Goldmann-Favre Syndrome Goltz Syndrome Gorlin Syndrome GRACILE Syndrome Greenberg skeletal dysplasia Greig Cephalopolysyndactyly Syndrome GRIN2B-related Neurodevelopmental Disorder Gronblad Syndrome GTP Cyclohydrolase I Deficiency Hadju-Cheney Syndrome Hailey-Hailey disease Haim-Munk Syndrome Harlequin Ichthyosis Hartsfield syndrome Haw River syndrome Hawkinsinuria Hay-Wells Syndrome Hearing Loss Hearing Loss / SNHL Hematologic Cancer Hemiplegic migraine Hereditary Angioedema (HAE) Type I-II Hereditary Angioedema (HAE) Type III Hereditary Ataxia Hereditary Fructose Intolerance Hereditary Hemorrhagic Telangiectasia (HHT) Hereditary Inclusion Body Myopathy (HIBM) Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Motor and Sensory Neuropathy (HMSN) Hereditary Multiple Exostoses (HME) Hereditary Myopathy with Lactic Acidosis Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) Hereditary Pancreatitis Hereditary Retinoblastoma Hereditary Sensory and Autonomic Neuropathy (HSAN) Hereditary Sensory and Autonomic Neuropathy I (HSAN I) Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E) Hereditary Sensory and Autonomic Neuropathy II (HSAN II) Hereditary Sensory and Autonomic Neuropathy III (HSAN III) Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) Hereditary Sensory and Autonomic Neuropathy V (HSAN V) Hereditary Sensory and Autonomic Neuropathy VIII (HSAN VIII) Hereditary Spastic Paraplegia (HSP) Hereditary Spastic Paraplegia - Inborn Errors of Metabolism Herlitz Junctional Epidermolysis Bullosa Hermansky-Pudlak Syndrome Heterotaxy HFE-Associated Hemochromatosis Hidrotic ectodermal dysplasia Hirschsprung Disease HMG-CoA Lyase Deficiency Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency Holoprosencephaly Holt-Oram syndrome Homocystinuria due to Cystathionine Beta-Synthase Deficiency HOXD13-Associated Limb Abnormalities Hoyeraal-Hreidarsson Syndrome (HHS) HSAN with Spastic Paraplegia Hunter Syndrome Hurler Syndrome Hydrocephalus, X-linked Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency Hyper-IgD Syndrome Hyper-IgE Syndrome (HIES) Hyper-IgM Syndromes Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD) Hyperammonemia Related Disorders Hyperekplexia Hyperkalemic Periodic Paralysis Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus Hyperostosis-hyperphosphatemia syndrome Hyperparathyroidism-Jaw Tumor Syndrome Hyperphenylalaninemia Hyperphosphatemic familial tumoral calcinosis Hypertrophic Cardiomyopathy (HCM) Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hypo-/Anhidrotic Ectodermal Dysplasia Hypocalcemia, Autosomal Dominant (ADH) Hypochondroplasia (HCH) Hypogonadotropic Hypogonadism (HH) Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) Hypokalemia Hypokalemic Periodic Paralysis Hypomagnesemia Hypomyelinating Leukodystrophy Hypomyelination and Congenital Cataract (HCC) Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) Hypophosphatasia Hypophosphatemic nephrolithiasis/osteoporosis Hypophosphatemic rickets Hypophosphatemic Rickets, X-linked Hypoplastic Left Heart Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) Ichthyosis Linearis Circumflexa Ichthyosis Prematurity Syndrome Ichthyosis Vulgaris Ichthyosis, Spastic quadriplegia, and Intellectual Disablity Ichthyosis, X-linked (Steroid Sulfatase Deficiency) Idiopathic Infantile Hypercalcemia Immunodeficiency Syndrome with Hyper-IgM Incontinentia Pigmenti (IP) Infantile and Juvenile Nuclear Cataract, Unspecified Eye Infantile Liver Failure Syndrome Infantile Parkinsonism, Autosomal Recessive Infantile Spasm Syndrome-2, X-linked Inherited Erythromelalgia (IEM) Intellectual disability Interrupted Aortic Arch Interstitial lung disease (ILD) Intrahepatic Cholestasis of Pregnancy Invasive Pneumococcal Disease IRAK4 Deficiency Iris Hypoplasia Isobutyryl-CoA Dehydrogenase Deficiency Isolated Gonadotropin-releasing Hormone Deficiency (IGD) Isovaleric Acidemia Jackson-Weiss Syndrome Jensen Syndrome Jervell and Lange-Nielsen Syndrome Jervell and Lange-Nielsen syndrome / Long QT syndrome 1/ Long QT syndrome 2 Jervell and Lange-Nielsen syndrome 2 (LNS) / Long QT syndrome 5 Jobs Syndrome Joubert Syndrome Juvenile Amyotrophic Lateral Sclerosis (JALS) / Juvenile Lou Gehrig Disease Juvenile Polyposis Syndrome (JPS) Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT) Kabuki syndrome (KS) Kallmann Syndrome KBG Syndrome Kearns-Sayre Syndrome (KSS) Kennedy Disease Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) Keratosis Follicularis Spinulosa Decalvans (KFSD) Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK) Syndrome Keutel syndrome Kleefstra Syndrome Krabbe Disease Lacrimo-Auriculo-Dental-Digital syndrome Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome Lactic Acidemia Lactic acidosis Lafora Disease Lamellar Ichthyosis Lamellar Ichthyosis Type 1 Lamellar Ichthyosis Type 2 Laterality Defect Leber Congenital Amaurosis, Autosomal Dominant Leber Congenital Amaurosis, Autosomal Recessive Lebers Hereditary Optic Neuropathy (LHON) Left Ventricular Noncompaction (LVNC) Left Ventricular Outflow Tract Obstruction Legius Syndrome Leigh Syndrome Lesch-Nyhan Syndrome Lethal Congenital Contracture Syndrome Lethal Multiple Pterygium Syndrome Leukemia Leukocyte Adhesion Deficiency Type 1 Leukodystrophy Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with vanishing white matter Li-Fraumeni Syndrome (LFS) Liddle Syndrome LIG4 Syndrome Limb Abnormalities Limb-Girdle Muscular Dystrophy (LGMD) Limb-Mammary Syndrome Lip Pit Syndrome Lipodystrophy Lipoyltransferase 1 Deficiency (LIPT1) Lissencephaly Loeys-Dietz syndrome (LDS) Long QT Syndrome (LQTS) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Loricrin Keratoderma Lou Gehrig's disease Lowe Syndrome (Oculocerebrorenal syndrome of Lowe) Lower Motor Neuron Disease Lujan syndrome (LS) (Lujan-Fyns syndrome) Lung Cancer Lynch Syndrome Lysosomal Acid Lipase Deficiency Lysosomal Storage Disorders Mabry syndrome Machado-Joseph disease Macrocephaly Macrocephaly, Alopecia, Cultis Laxa, and Scoliosis (MACS) Macular Dystrophy, Autosomal Dominant Macular Dystrophy, Autosomal Recessive Macular Dystrophy, Stargardt-Like Majeed Syndrome Malonyl-CoA Decarboxylase Deficiency Mandibulofacial Dysostosis Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease, Type III Marfan Syndrome/LDS/Related Disorders Maroteaux-Lamy Syndrome Marshall syndrome MASA Syndrome Maternally Inherited Deafness or Aminoglycoside-Induced Deafness Maternally Inherited Diabetes and Deafness (MIDD) Maternally Inherited Diabetes Mellitus (MIDM) Maturity-Onset Diabetes of the Young (MODY) McArdle Disease Meckel-Gruber Syndrome MED13L Syndrome Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Medullary Cystic Kidney Disease Melanoma Panel Melnick-Fraser Syndrome Menkes Disease Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma (MEDNIK) Syndrome Metabolic Myopathy Metachondromatosis Metachromatic Leukodystrophy Metaphyseal Dysplasia without Hypotrichosis Methionine Adenosyltransferase I/III Deficiency Methylglutaconic Aciduria Methylmalonic Acidemia Methylmalonic Acidemia and Hyperhomocysteinemia, cblX Type Methylmalonic Aciduria and Homocystinuria, cblJ Type Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type Microcephaly Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ) Microphthalmia Microphthalmia, Lenz Syndrome Mitis Junctional Epidermolysis Bullosa Mitochondrial Complex I Deficiency Mitochondrial Complex II Deficiency Mitochondrial Complex III Deficiency Mitochondrial Complex IV Deficiency Mitochondrial Complex V Deficiency Mitochondrial DNA Depletion Syndrome Mitochondrial DNA Multiple Deletions Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) Mitochondrial Encephalopathy Mitochondrial Muscle Myopathy Mitochondrial Myopathy (MM) Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) Mitochondrial Pyruvate Carrier Deficiency Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE) Mitochondrial Ribosomal Protein Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D) Mitochondrial Trifunctional Protein (MTP) Deficiency Mohr-Tranebjaerg syndrome Morquio B Disease Morquio Syndrome A Motor Neuron Disease Movement Disorder Mowat-Wilson Syndrome MtDNA-related disorders Muckle-Wells Syndrome Mucolipidosis I Mucolipidosis IV Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID Mucopolysaccharidosis IIIB Mucopolysaccharidosis IIIC Mucopolysaccharidosis type I Mucopolysaccharidosis Type II Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVB Mucopolysaccharidosis VI (MPSVI) Muenke Syndrome Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Multiple Congenital Anomalies Multiple Endocrine Neoplasia 2A Multiple Endocrine Neoplasia 2B Multiple Endocrine Neoplasia Type 1 Multiple Epiphyseal Dysplasia (MED) Multiple Mitochondrial Dysfunctions Syndrome Multiple Sulfatase Deficiency Multiple syndromes associated with pathogenic variants in the TP63 gene Muscle Defects with Respiratory Insufficiency Muscular Dystrophy-Dystroglycanopathy (LGMD) Myasthenia/Myasthenic Syndromes (Congenital) Myelodysplastic syndrome MYH9 related disease/Macrothrombocytopenia and progressive sensorineural deafness / DFNA17 Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) Myoclonus dystonia Myofibrillar Myopathy Myofibrillar Myopathy (MFM) Myopathy, Lactic Acidosis, and Sideroblastic Anemia Myotonia Atrophica Myotonia Congenita Myotonic Dystrophy Myotonic Dystrophy, Type 1 (DM1) Myotonic Dystrophy, Type 2 (DM2) N-Acetylglutamate Synthase Deficiency (NAGS) Nager Syndrome Naito-Oyanagi disease Nemaline Myopathy Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) Syndrome Neonatal Onset Multisystem Inflammatory Disease Neonatal respiratory failure Neonatal Severe Primary Hyperparathyroidism (NSHPT) Nephrocalcinosis Nephrogenic Diabetes Insipidus Nephrolithiasis Nephronophthisis Nephrotic Syndrome Nephrotic Syndrome Type 9 (NPHS9) Netherton Syndrome Neu-Laxova Syndrome Neurodegeneration with Brain Iron Accumulation (NBIA) Neurofibromatosis Type 1 Neurofibromatosis Type 2 Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP) Neurohypophyseal Diabetes Insipidus Neuromyotonia Neuronal Ceroid Lipofuscinoses (NCL) Neuronal Ceroid-Lipofuscinosis 2 (CLN2) Neuropathy Neutral lipid storage disease with ichthyosis (NLSD) Neutropenia, X-linked Neutrophil Immunodeficiency Syndrome Nevoid basal cell carcinoma syndrome Newfoundland Rod-Cone Dystrophy Niemann-Pick Disease Niemann-Pick Disease, Type C Niemann-Pick Disease, Types A and B Night Blindness Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant NOD Non syndromic X-linked ID Non-epidermolytic Palmoplantar Keratoderma (NEPPK) Non-Herlitz Junctional Epidermolysis Bullosa Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53 Non-syndromic Hearing Loss, Autosomal Dominant Non-syndromic Hearing Loss, Autosomal Recessive Non-syndromic hearing loss, X-linked Nonsyndromic autosomal recessive mental retardation Nonsyndromic Low-Frequency Sensorineural Hearing Loss Nonsyndromic Sensorineural Mitochondrial Deafness / Aminoglycoside-Induced Deafness Nonsyndromic X-Linked Mental Retardation Nonsyndromic X-Linked mental retardation/ ATRX Nonsyndromic X-Linked Mental Retardation/ Fried Syndrome Nonsyndromic X-Linked Mental Retardation/ West/ Proud/ Partington/ XLAG Nonsyndromic X-Linked Mental Retardation/ XLMR-optic atrophy Noonan Syndrome Noonan syndrome with multiple lentigines Noonan-Like Syndrome Norrie Disease NSARMR and ARMR with RP Nystagmus Occipital Horn Disease Oculo Facio Cardio Dental Syndrome Oculocutaneous Albinism Oculodentaldigital Dysplasia/ AR SNHL Oculomotor apraxia Oculopharyngeal Muscular Dystrophy (OPMD) Odonto-onycho-dermal dysplasia (OODD) Ohtahara Syndrome Olmsted Syndrome Omenn Syndrome Open Spine/Abdominal Wall Defects Optic Atrophy Optic atrophy with or without deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy Oral-Facial Digital Type 6 Oral-Facial-Digital syndrome Type 1 Ornithine Transcarbamylase (OTC) Deficiency Ornithine Transcarbamylase Deficiency Osler-Weber-Rendu Syndrome Osteochondrodysplasias Osteogenesis Imperfecta (OI) Osteopetrosis Osteopetrosis Type 1, Autosomal Dominant Osteoporosis-Pseudoglioma Syndrome Otofaciocervical Syndrome Ovarian Cancer Ovarian dysfunction Ovarioleukodystrophy Oxidative Phosphorylation (OXPHOS) Deficiency Pachyonychia Congenita type 1 (PC1) Pachyonychia Congenita type 2 (PC2) Pallister Hall syndrome (PHS) Palmoplantar Keratoderma Palmoplantar keratoderma with deafness/ Nonsyndromic Sensorineural Mitochondrial Deafness/ Aminoglycoside-Induced Deafness Palmoplantar Keratoderma with SNHL Pancreatic Cancer Papillon-Lefevre Syndrome Paraganglioma Paramyotonia Congenita Parathyroid Carcinoma Parkes Weber syndrome Parkinson Disease Parkinsonism Paroxysmal dyskinesia Paroxysmal Extreme Pain Disorder (PEPD) Paroxysmal Kinesigenic Dyskinesia (PKD) Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA) Partial Epilepsy with Auditory Features, Autosomal Dominant Patent Ductus Arteriosus Patent Foramen Ovale Pearson Syndrome Pediatric Motor Neuron Disease Peeling Skin Syndrome (PSS) Pendred Syndrome Pendred syndrome / DFNB4 Periodic paralysis Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease (PCWH) Peripheral neuropathy, hoarseness, and hearing loss, DFNA4 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Periventricular Nodular Heterotopia Permanent Neonatal Diabetes (PND) Peroxisomal Biogenesis Disorders Peroxisomal Disorders Perrault Syndrome Perrault Syndrome / D-bifunctional Protein Deficiency Perrault Syndrome 4 (PRLTS4) Peter’s Anomaly Peutz-Jeghers Syndrome Pfeiffer Syndrome Phenylalanine hydroxylase deficiency Phenylketonuria Pheochromocytoma Piebaldism Pigmentary Retinal Dystrophy Pitt Hopkins Syndrome Pneumothorax, Primary Spontaneous Polycystic Kidney Disease Polycystic kidney, autosomal dominant Polycystic kidney, unspecified Polycystic Liver Disease Polymicrogyria Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) Pompe Disease Pontocerebellar Hypoplasia (PCH) Popliteal Pterygium Syndrome Postnatal respiratory distress Potassium-aggrevated myotonia Prader-Willi syndrome (PWS) Pre-axial Acrofacial Dysostosis Premature Ovarian Failure (FMR1-Associated) Premature Ovarian Failure (POF) Prenatal Cornelia de Lange Syndrome (CdLS) Primary Aldosteronism Primary AR microcephaly Primary Ciliary Dyskinesia Primary Coenzyme Q10 Deficiency Primary Familial Brain Calcification (PFBC) Primary Hyperoxaluria Primary Hyperoxaluria Type I Primary Hyperoxaluria Type II Primary Hyperoxaluria Type III Primary/Systemic Carnitine Deficiency Prion Disease Progressive External Ophthalmoplegia Progressive Familal Intrahepatic Cholestatis 4/ Familial Hypercholanemia/ DFNA51 Progressive Familial Intrahepatic Cholestasis (PFIC) Progressive Familial Intrahepatic Cholestasis-2 (PFIC2) Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Progressive Myoclonic Epilepsy Progressive Neurodevelopmental Syndrome in Males Progressive Supranuclear Palsy (PSP) Progressive Symmetric Erythrokeratoderma (PSEK) Prolidase Deficiency Propionic Acidaemia Propionic Acidemia Prostate Cancer Proteus Syndrome/Proteus-like Syndrome Prothrombin-Related Thrombophilia Proximal Myotonic Myopathy (PROMM) Pseudo-Vitamin D-Deficiency Rickets Pseudoachondroplasia (PSACH) Pseudoxanthoma Elasticum (PXE) Pseudoxanthoma Elasticum-like disorder with multiple coagulation factor deficiency PTEN associated Macrocephaly/Autism Syndrome PTEN-related Disorders PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome Pulmonary alveolar proteinosis (PAP) Pulmonary Arterial Hypertension (PAH) Pulmonary Stenosis PURA Syndrome Purine Nucleoside Phosphorylase Deficiency Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Pyridoxine Dependent Seizures Pyridoxine-Refractory Sideroblastic Anemia Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive Pyruvate Carboxylase Deficiency Pyruvate dehydrogenase complex deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Pyruvate Metabolism Raine syndrome Refsum Disease Renal Cancer Renal Hypouricemia Renal tubular acidosis with deafness Renal-Coloboma Syndrome / Papillorenal Syndrome Restrictive Dermopathy Reticular Dysgenesis Retinitis Pigmentosa, Autosomal Dominant (adRP) Retinitis Pigmentosa, Autosomal Recessive (arRP) Retinitis Pigmentosa, X-linked Retinitis Punctata Albescens Retinoschisis, Juvenile X-Linked Rett syndrome Rhizomelic chondrodysplasia punctata (RCDP) Ricker Syndrome Rickets, Hypophosphatemic, Autosomal Dominant Rickets, Hypophosphatemic, Autosomal Recessive Rieger Syndrome Riley Day Syndrome Rippling muscle disease Robert<span>'</span>s syndrome Robinow Syndrome Rodriguez Syndrome Rosenberg-Chutorian Syndrome Rothmund-Thomson/RAPADILINO syndrome Rubinstein-Taybi syndrome (RSTS) Salla Disease Sandhoff Disease Sanfilippo Syndrome A Sanfilippo Syndrome A, B, C and D Sanfilippo Syndrome B Sanfilippo Syndrome C Saposin A Deficiency Saposin B Deficiency Saposin C Deficiency SATB2-associated Syndrome Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) Schopf-Schulz-Passarge Syndrome (SSPS) Schwannomatosis SCN2A-related Disorders Seckel syndrome Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES/ Enlarged Vestibular Aqueduct (digenic)/ Pendred’s syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance syndrome (SeSAME syndrome) Senior-Loken Syndrome Sensorineural Hearing Loss (SNHL) Septo-Optic Dysplasia Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) Severe Combined Immune Deficiency (SCID) Severe Combined Immune Deficiency (SCID), ADA Type Severe Combined Immune Deficiency (SCID), DCLRE1C Type Severe Combined Immune Deficiency (SCID), IL7R Type Severe Combined Immune Deficiency (SCID), JAK3 Type Severe Combined Immune Deficiency (SCID), RAG Type Severe Combined Immune Deficiency (XSCID), X-linked Severe Combined Immune Deficiency with Radiation Sensitivity Severe Congenital Neutropenia Short QT Syndrome (SQTS) Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Short-Rib Thoracic Dysplasia (SRTD) Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency Shprintzen-Goldberg syndrome Shwachman-Diamond Syndrome (SDS) Sialidosis Sideroblastic Anemia Sideroblastic Anemia with Spinocerebellar Ataxia Sideroblastic Anemia, X-linked Simpson-Golabi-Behmel Syndrome (SGBS) Single Ventricle Sinoatrial Node Dysfunction and Deafness (SANDD) Sinoatrial node dysfunction and deafness (SANDD)/ Bradycardia and congenital deafness/ SNHL Situs Inversus Sjogren Larsson Syndrome (SLS) Skeletal Dysplasia Small Fiber Neuropathy (SFN) Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome (SMS) SNHL (AR) SNHL and male infertility Sotos Syndrome Spastic Ataxia Spastic paraplegia Spastic Paraplegia 28 (SPG28) Spastic Paraplegia 4 (SPG4) Spastic Paraplegia 43 (SPG43) Spastic Paraplegia 54 (SPG54) Spastic Paraplegia 74 (SPG74) Spinal and Bulbar Muscular Atrophy (SBMA) Spinal Muscular Atrophy Spinal Muscular Atrophy with lower extremity predominance Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) Spinocerebellar Ataxia Spinocerebellar Ataxia type 1 (SCA1) Spinocerebellar Ataxia type 2 (SCA2) Spinocerebellar Ataxia type 3 (SCA3) Spinocerebellar Ataxia type 6 (SCA6) Spinocerebellar Ataxia type 7 (SCA7) Spinocerebellar Ataxia type 8 (SCA8) Spinocerebellar Degeneration Split Hand - Split Foot Malformation Spondylocostal dysostosis Spondyloepiphyseal dysplasia spectrum disorders Spondylometaepiphyseal Dysplasia, Menger Type Stargardt Disease Steatocystoma Multiplex Steinert Disease Stickler syndrome STXBP1 Encephalopathy with Epilepsy Sudden Cardiac Arrest Sudden Unexplained Death Superficial Epidermolytic Ichthyosis Supravalvular Aortic Stenosis Surfactant deficiency Surfactant Dysfunction (SD) Surfactant metabolism dysfunction Susceptibility to Cutaneous Malignant Melanoma Syndromic Micropthalmia Type 3 Syntelencephaly Tay-Sachs Disease Testicular Feminization Syndrome (TFM) Tetralogy of Fallot Thanatophoric Dysplasia (TD) Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders Thrombocytopenia, X-linked Thrombocytopenioa with Absent Radii (TAR) syndrome and non-syndromic abnormalities Thyroid Cancer Tietz Albinism-Deafness Syndrome TNF Receptor-Associated Periodic Syndrome Torsion dystonia Total Anomalous Pulmonary Venous Return Townes-Brocks Syndrome Transposition of the Great Arteries Transthyretin Amyloidosis Treacher Collins Syndrome (TCS) Tremors Triphalangeal Thumb Polydactyly Triple-A Syndrome Tuberous Sclerosis Complex (TSC) Tyrosine Hydroxylase Deficiency Tyrosinemia Type I Tyrosinemia Type II Tyrosinemia Type III Ullrich CMD/Bethlem Myopathy Ullrich Congenital Muscular Dystrophy Ulnar-mammary syndrome Uncomplicated Hereditary Spastic Paraplegias Uniparental Disomy Unna-Thost disease Unspecified Hearing Loss Unverricht-Lundborg Disease (Baltic Myoclonus) Urea Cycle Disorders Usher 1B, rarely 3 / DFNA11/ DFNB2 Usher Syndrome Usher Syndrome Type 1/ DFNB12 Usher Syndrome Type 1J/ DFNB48 Usher Syndrome Type 3A/ Retinitis Pigmentosa Usher Type 1C / DFNA18 Usher Type 1G Usher Type 2A Usher type 2C Usher Type 2D / DFNB31 Uterine Cancer Van Buchem Disease Type 2 Van der Woude Syndrome Vascular Ehlers-Danlos syndrome Vasopressin-resistant Diabetes Insipidus Vasopressin-sensitive Diabetes Insipidus Velocardiofacial syndrome Ventricular Septal Defect Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Vitamin D-dependent rickets Vitamin K-dependent Coagulation Factor Deficiency Vitreoretinochoroidopathy, Autosomal Dominant Vohwinkel syndrome Von Hippel-Lindau syndrome Vorner syndrome Waardenburg Syndrome Walker–Warburg Syndrome Warburg Micro Syndrome Weissenbach-Zweymuller syndrome Wermer syndrome West Syndrome White Sponge Nevus Wieacker-Wolff Syndrome Williams-Beuren syndrome Wilson Disease Wiskott-Aldrich syndrome Wolff-Parkinson-White Syndrome Wolfram Syndrome Wolfran Syndrome and WFS like disorder/ DFNA6/ DFNA14/ DFNA38 X-linked adrenoleukodystrophy X-linked Erythropoietic Protoporphyria X-linked Myotubular Myopathy Xanthinuria Xia-Gibbs Syndrome Select all conditions that apply
