- 1q21.1 Recurrent Microdeletion
- 3q29 Recurrent Deletion
- 7q11.23 Duplication Syndrome
- 15q13.3 Recurrent Deletion
- 16p11.2 Recurrent Deletion
- 16p12.2 Recurrent Deletion
- 17q12 Recurrent Duplication
- 17q12 Recurrent Deletion Syndrome
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- 22q11.2 Deletion Syndrome
- ACTG2 Visceral Myopathy
- ADAMTSL4-Related Eye Disorders
- ADCY5 Dyskinesia
- ADNP-Related Disorder
- AIP Familial Isolated Pituitary Adenomas
- ALK-Related Neuroblastic Tumor Susceptibility
- ALS2-Related Disorder
- ANKRD17-Related Neurodevelopmental Syndrome
- ANKRD26-Related Thrombocytopenia
- ANO5 Muscle Disease
- AP-4-Associated Hereditary Spastic Paraplegia
- APC-Associated Polyposis Conditions
- APOB-Related Familial Hypobetalipoproteinemia
- ARID1B-Related Disorder
- ARSACS
- ASAH1-Related Disorders
- ASPM Primary Microcephaly
- ASXL3-Related Disorder
- ATN1-Related Neurodevelopmental Disorder
- ATP1A3-Related Neurologic Disorders
- ATP6V0A2-Related Cutis Laxa
- ATP7A-Related Copper Transport Disorders
- ATP8B1 Deficiency
- Abetalipoproteinemia
- Aceruloplasminemia
- Achondrogenesis Type 1B
- Achondroplasia
- Achromatopsia
- Acid Sphingomyelinase Deficiency
- Acute Intermittent Porphyria
- Adenine Phosphoribosyltransferase Deficiency
- Adenosine Deaminase 2 Deficiency
- Adenosine Deaminase Deficiency
- Adult Refsum Disease
- Aicardi Syndrome
- Aicardi-Goutières Syndrome
- Alagille Syndrome
- Alexander Disease
- Alkaptonuria
- Allan-Herndon-Dudley Syndrome
- Alpha-1 Antitrypsin Deficiency
- Alpha-Mannosidosis
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- Alpha-Thalassemia
- Alport Syndrome
- Alström Syndrome
- Alzheimer Disease Overview
- Amyotrophic Lateral Sclerosis Overview
- Andersen-Tawil Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Apert Syndrome
- Arginase Deficiency
- Argininosuccinate Lyase Deficiency
- Aromatic L-Amino Acid Decarboxylase Deficiency
- Arrhythmogenic Right Ventricular Cardiomyopathy Overview
- Arterial Tortuosity Syndrome
- Arylsulfatase A Deficiency
- Asparagine Synthetase Deficiency
- Ataxia with Oculomotor Apraxia Type 1
- Ataxia with Oculomotor Apraxia Type 2
- Ataxia with Vitamin E Deficiency
- Ataxia-Telangiectasia
- Au-Kline Syndrome
- Autoimmune Lymphoproliferative Syndrome
- Autosomal Dominant Epilepsy with Auditory Features
- Autosomal Dominant Robinow Syndrome
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
- Autosomal Dominant TRPV4 Disorders
- Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
- Autosomal Dominant Tubulointerstitial Kidney Disease – REN
- Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD
- Autosomal Recessive Congenital Ichthyosis
- Aymé-Gripp Syndrome
- BAP1 Tumor Predisposition Syndrome
- BCL11A-Related Intellectual Disability
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
- BSCL2-Related Neurologic Disorders / Seipinopathy
- Bachmann-Bupp Syndrome
- Baller-Gerold Syndrome
- Baraitser-Winter Cerebrofrontofacial Syndrome
- Bardet-Biedl Syndrome Overview
- Barth Syndrome
- Beckwith-Wiedemann Syndrome
- Berardinelli-Seip Congenital Lipodystrophy
- Bestrophinopathies
- Beta-Propeller Protein-Associated Neurodegeneration
- Beta-Thalassemia
- Bietti Crystalline Dystrophy
- Biotin-Thiamine-Responsive Basal Ganglia Disease
- Biotinidase Deficiency
- Birt-Hogg-Dubé Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
- Bloom Syndrome
- Bohring-Opitz Syndrome
- Branchiooculofacial Syndrome
- Branchiootorenal Spectrum Disorder
- Brugada Syndrome
- Bryant-Li-Bhoj Neurodevelopmental Syndrome
- C3 Glomerulopathy
- C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
- CACNA1C-Related Disorders
- CADASIL
- CASK Disorders
- CATSPER-Related Male Infertility
- CDC73-Related Disorders
- CDK13-Related Disorder
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
- CHCHD10-Related Disorders
- CHD2-Related Neurodevelopmental Disorders
- CHD4 Neurodevelopmental Disorder
- CHD7 Disorder
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
- CHKB-Related Muscular Dystrophy
- CHMP2B Frontotemporal Dementia
- CHST3-Related Skeletal Dysplasia
- CLCN2-Related Leukoencephalopathy
- CLCN4-Related Neurodevelopmental Disorder
- CLCN7-Related Osteopetrosis
- CLPB Deficiency
- COL1A1/2 Osteogenesis Imperfecta
- COL4A1-Related Disorders
- COMP-Related Pseudoachondroplasia
- CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- CTNNB1 Neurodevelopmental Disorder
- CYLD Cutaneous Syndrome
- Caffey Disease
- Calpainopathy
- Campomelic Dysplasia
- Camurati-Engelmann Disease
- Cantú Syndrome
- Capillary Malformation-Arteriovenous Malformation Syndrome
- Carbonic Anhydrase VA Deficiency
- Cardiofaciocutaneous Syndrome
- Carney Complex
- Carnitine Palmitoyltransferase 1A Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
- Carnitine-Acylcarnitine Translocase Deficiency
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Celiac Disease
- Cerebrotendinous Xanthomatosis
- Char Syndrome
- Charcot-Marie-Tooth Hereditary Neuropathy Overview
- Chediak-Higashi Syndrome
- Cherubism
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
- Chondrodysplasia Punctata 1, X-Linked
- Chondrodysplasia Punctata 2, X-Linked
- Choroideremia
- Christianson Syndrome
- Chronic Granulomatous Disease
- Chylomicron Retention Disease
- Citrin Deficiency
- Citrullinemia Type I
- Classic Ehlers-Danlos Syndrome
- Classic Galactosemia and Clinical Variant Galactosemia
- Cleidocranial Dysplasia Spectrum Disorder
- Cockayne Syndrome
- Coffin-Siris Syndrome
- Cohen Syndrome
- Cold-Induced Sweating Syndrome Including Crisponi Syndrome
- Collagen VI-Related Dystrophies
- Complete Plasminogen Activator Inhibitor 1 Deficiency
- Congenital Central Hypoventilation Syndrome
- Congenital Contractural Arachnodactyly
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
- Congenital Diaphragmatic Hernia Overview
- Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
- Congenital Dyserythropoietic Anemia Type I
- Congenital Erythropoietic Porphyria
- Congenital Fibrosis of the Extraocular Muscles Overview
- Congenital Insensitivity to Pain Overview
- Congenital Mirror Movements
- Congenital Myasthenic Syndromes Overview
- Congenital NAD Deficiency Disorder
- Congenital Stromal Corneal Dystrophy
- Cornelia de Lange Syndrome
- Costeff Syndrome
- Costello Syndrome
- Cranioectodermal Dysplasia
- Craniometaphyseal Dysplasia, Autosomal Dominant
- Creatine Deficiency Disorders
- Cystic Fibrosis
- Cystinosis
- Cytochrome P450 Oxidoreductase Deficiency
- DCTN1-Related Neurodegeneration
- DCX-Related Disorders
- DDX3X-Related Neurodevelopmental Disorder
- DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
- DEPDC5-Related Epilepsy
- DFNA2 Nonsyndromic Hearing Loss
- DICER1 Tumor Predisposition
- DLG4-Related Synaptopathy
- DNAJC6 Parkinson Disease
- DNMT1-Related Disorder
- DRPLA
- DYRK1A Syndrome
- DYT-GNAL
- DYT1 Early-Onset Isolated Dystonia
- Danon Disease
- Deafness and Myopia Syndrome
- Deafness-Dystonia-Optic Neuronopathy Syndrome
- Dent Disease
- Deoxyguanosine Kinase Deficiency
- Diabetes Mellitus, 6q24-Related Transient Neonatal
- Diamond-Blackfan Anemia
- Diastrophic Dysplasia
- Dihydrolipoamide Dehydrogenase Deficiency
- Dilated Cardiomyopathy Overview
- Disorders of GNAS Inactivation
- Disorders of Intracellular Cobalamin Metabolism
- Donnai-Barrow Syndrome
- Dopamine Beta-Hydroxylase Deficiency
- Duane Syndrome
- Duarte Variant Galactosemia
- Dysferlinopathy
- Dyskeratosis Congenita and Related Telomere Biology Disorders
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathies
- EBF3 Neurodevelopmental Disorder
- EED-Related Overgrowth
- EFEMP2-Related Cutis Laxa
- ELANE-Related Neutropenia
- ELN-Related Cutis Laxa
- EMC10-Related Neurodevelopmental Disorder
- ENTPD1-Related Neurodevelopmental Disorder
- EPB42-Related Hereditary Spherocytosis
- EPG5-Related Disorder
- ETV6 Thrombocytopenia and Predisposition to Leukemia
- ESCO2 Spectrum Disorder
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- EXOSC3 Pontocerebellar Hypoplasia
- EZH2-Related Overgrowth
- El-Hattab-Alkuraya Syndrome
- Ellis-van Creveld Syndrome
- Emanuel Syndrome
- Emery-Dreifuss Muscular Dystrophy
- Encephalocraniocutaneous Lipomatosis
- Enlarged Parietal Foramina
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa with Pyloric Atresia
- Epimerase Deficiency Galactosemia
- Episodic Ataxia Type 1
- Erythropoietic Protoporphyria, Autosomal Recessive
- Ethylmalonic Encephalopathy
- FAM111A-Related Skeletal Dysplasias
- FARS2 Deficiency
- FBLN5-Related Cutis Laxa
- FBN1-Related Marfan Syndrome
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- FGFR Craniosynostosis Syndromes Overview
- FGFR1-Related Hartsfield Syndrome
- FH Tumor Predisposition Syndrome
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
- FLNA Deficiency
- FLNB Disorders
- FMR1 Disorders
- FOXP1 Syndrome
- FOXP2-Related Speech and Language Disorder
- FREM1 Autosomal Recessive Disorders
- FRMD7-Related Infantile Nystagmus
- Fabry Disease
- Facioscapulohumeral Muscular Dystrophy
- Factor V Leiden Thrombophilia
- Familial Cerebral Cavernous Malformations
- Familial Combined Hypolipidemia
- Familial Dysautonomia
- Familial Hemiplegic Migraine
- Familial Hemophagocytic Lymphohistiocytosis
- Familial Hypercholesterolemia
- Familial Hyperinsulinism
- Familial Lipoprotein Lipase Deficiency
- Familial Mediterranean Fever
- Familial Paroxysmal Nonkinesigenic Dyskinesia
- Familial Porphyria Cutanea Tarda
- Fanconi Anemia
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- Feingold Syndrome 1
- Fibrous Dysplasia / McCune-Albright Syndrome
- Fibrodysplasia Ossificans Progressiva
- Floating-Harbor Syndrome
- Free Sialic Acid Storage Disorders
- Friedreich Ataxia
- Fructose-1,6-Bisphosphatase Deficiency
- Fryns Syndrome
- Fukuyama Congenital Muscular Dystrophy
- Fumarate Hydratase Deficiency
- G6PC3 Deficiency
- GAN-Related Neurodegeneration
- GARS1-Associated Axonal Neuropathy
- GATA1-Related Cytopenia
- GBE1 Adult Polyglucosan Body Disease
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
- GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- GLB1-Related Disorders
- GLI3-Related Pallister-Hall Syndrome
- GLYT1 Encephalopathy
- GM2 Activator Deficiency
- GM3 Synthase Deficiency
- GNAO1-Related Disorder
- GNB1 Encephalopathy
- GNB5-Related Neurodevelopmental Disorder
- GNE Myopathy
- GNPTAB-Related Disorders
- GRIN1-Related Neurodevelopmental Disorder
- GRIN2A-Related Speech Disorders and Epilepsy
- GRIN2B-Related Neurodevelopmental Disorder
- GRIN2D-Related Developmental and Epileptic Encephalopathy
- GRN Frontotemporal Dementia
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
- Gabriele-de Vries Syndrome
- Gaucher Disease
- Geleophysic Dysplasia
- Generalized Arterial Calcification of Infancy
- Genetic Atypical Hemolytic-Uremic Syndrome
- Genetic Hearing Loss Overview
- Genetic Prion Disease
- Genetic Steroid-Resistant Nephrotic Syndrome Overview
- Glucose Transporter Type 1 Deficiency Syndrome
- Glutaric Acidemia Type 1
- Glycogen Storage Disease Type I
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type IV
- Glycogen Storage Disease Type V
- Glycogen Storage Disease Type VI
- Greig Cephalopolysyndactyly Syndrome
- HEXA Disorders
- HFE Hemochromatosis
- HIST1H1E Syndrome
- HNRNPH2-Related Neurodevelopmental Disorder
- HNRNPU-Related Neurodevelopmental Disorder
- HPRT1 Disorders
- HTRA1 Disorder
- HYAL2 Deficiency
- Hand-Foot-Genital Syndrome
- Hemophilia A
- Hemophilia B
- Hepatic Veno-Occlusive Disease with Immunodeficiency
- Hepatoerythropoietic Porphyria
- Hereditary Ataxia Overview
- Hereditary Coproporphyria
- Hereditary Diffuse Gastric Cancer
- Hereditary Distal Renal Tubular Acidosis
- Hereditary Dystonia Overview
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
- Hereditary Folate Malabsorption
- Hereditary Fructose Intolerance
- Hereditary Hemorrhagic Telangiectasia
- Hereditary Hyperekplexia Overview
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
- Hereditary Multiple Osteochondromas
- Hereditary Myopathy with Early Respiratory Failure
- Hereditary Nephrogenic Diabetes Insipidus
- Hereditary Neuropathy with Liability to Pressure Palsies
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
- Hereditary Sensory and Autonomic Neuropathy Type II
- Hereditary Spastic Paraplegia Overview
- Hereditary Transthyretin Amyloidosis
- Heritable Pulmonary Arterial Hypertension Overview
- Heritable Thoracic Aortic Disease Overview
- Hermansky-Pudlak Syndrome
- Hidrotic Ectodermal Dysplasia 2
- Holoprosencephaly Overview
- Holt-Oram Syndrome
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
- Huntington Disease
- Huntington Disease-Like 2
- Huppke-Brendel Syndrome
- Hutchinson-Gilford Progeria Syndrome
- Hyaline Fibromatosis Syndrome
- Hyperkalemic Periodic Paralysis
- Hypermanganesemia with Dystonia 1
- Hypermobile Ehlers-Danlos Syndrome
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Hyperphosphatemic Familial Tumoral Calcinosis
- Hypertrophic Cardiomyopathy Overview
- Hypochondroplasia
- Hypohidrotic Ectodermal Dysplasia
- Hypokalemic Periodic Paralysis
- Hypomyelination and Congenital Cataract
- Hypophosphatasia
- IMAGe Syndrome
- INSR-Related Severe Syndromic Insulin Resistance
- IPEX Syndrome
- IRF6-Related Disorders
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
- ISCA2-Related Mitochondrial Disorder
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
- Incontinentia Pigmenti
- Infantile-Onset Spinocerebellar Ataxia
- Isolated and Classic Cutis Marmorata Telangiectatica Congenita
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
- Isolated Methylmalonic Acidemia
- Isolated Sulfite Oxidase Deficiency
- Jervell and Lange-Nielsen Syndrome
- Joubert Syndrome
- Junctional Epidermolysis Bullosa
- Juvenile Hemochromatosis
- Juvenile Polyposis Syndrome
- KAT6B Disorders
- KBG Syndrome
- KCNK9 Imprinting Syndrome
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
- KCNT1-Related Epilepsy
- KMT2B-Related Dystonia
- Kabuki Syndrome
- Kaufman Oculocerebrofacial Syndrome
- Kindler Syndrome
- Kleefstra Syndrome
- Koolen-de Vries Syndrome
- Krabbe Disease
- L1 Syndrome
- LAMA2 Muscular Dystrophy
- LMNA-Related Dilated Cardiomyopathy
- LMNB1-Related Autosomal Dominant Leukodystrophy
- LPIN2-Related Majeed Syndrome
- LRRK2 Parkinson Disease
- LTBP4-Related Cutis Laxa
- LZTR1- and SMARCB1-Related Schwannomatosis
- Laing Distal Myopathy
- Lathosterolosis
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
- Leber Hereditary Optic Neuropathy
- Legius Syndrome
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Li-Fraumeni Syndrome
- Lipoid Proteinosis
- Loeys-Dietz Syndrome
- Long QT Syndrome
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
- Lowe Syndrome
- Lymphedema-Distichiasis Syndrome
- Lymphoproliferative Disease, X-Linked
- Lynch Syndrome
- Lysinuric Protein Intolerance
- Lysosomal Acid Lipase Deficiency
- MAPT-Related Frontotemporal Dementia
- MBD5 Haploinsufficiency
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
- MECP2 Disorders
- MECP2 Duplication Syndrome
- MECR-Related Neurologic Disorder
- MED12-Related Disorders
- MELAS
- MERRF
- MFN2 Hereditary Motor and Sensory Neuropathy
- MIRAGE Syndrome
- MN1 C-Terminal Truncation Syndrome
- MPPH Syndrome
- MPV17-Related Mitochondrial DNA Maintenance Defect
- MUTYH Polyposis
- MYH9-Related Disease
- MYRF-Related Cardiac Urogenital Syndrome
- Malignant Hyperthermia Susceptibility
- Mandibulofacial Dysostosis with Microcephaly
- Maple Syrup Urine Disease
- Marinesco-Sjögren Syndrome
- Maternal 15q Duplication Syndrome
- Maturity-Onset Diabetes of the Young Overview
- McKusick-Kaufman Syndrome
- McLeod Neuroacanthocytosis Syndrome
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Microcephaly-Capillary Malformation Syndrome
- Microphthalmia with Linear Skin Defects Syndrome
- Milroy Disease
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Mitochondrial DNA Maintenance Defects Overview
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
- Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
- Molybdenum Cofactor Deficiency
- Monosomy 7 Predisposition Syndromes Overview
- Mowat-Wilson Syndrome
- Mucolipidosis III Gamma
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IVA
- Muenke Syndrome
- Multicentric Osteolysis Nodulosis and Arthropathy
- Multiple Acyl-CoA Dehydrogenase Deficiency
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Endocrine Neoplasia Type 4
- Multiple Epiphyseal Dysplasia, Autosomal Dominant
- Multiple Sulfatase Deficiency
- Myhre Syndrome
- Myotonia Congenita
- Myotonic Dystrophy Type 1
- Myotonic Dystrophy Type 2
- NDP-Related Retinopathies
- NFIA-Related Disorder
- NGLY1-Related Congenital Disorder of Deglycosylation
- NKX2-1-Related Disorders
- NKX6-2-Related Disorder
- NOTCH3-Related Lateral Meningocele Syndrome
- NR0B1-Related Adrenal Hypoplasia Congenita
- NR2F1-Related Neurodevelopmental Disorder
- NSDHL-Related Disorders
- NTHL1 Tumor Syndrome
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
- Nail-Patella Syndrome
- Nephronophthisis-Related Ciliopathies
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
- Neuroferritinopathy
- Neurofibromatosis 1
- NF2-Related Schwannomatosis
- Nevoid Basal Cell Carcinoma Syndrome
- Nicolaides-Baraitser Syndrome
- Niemann-Pick Disease Type C
- Nijmegen Breakage Syndrome
- Nonketotic Hyperglycinemia
- Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development
- Nonsyndromic Disorders of Testicular Development Overview
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
- Nonsyndromic Retinitis Pigmentosa Overview
- Nonsyndromic Tooth Agenesis Overview
- Noonan Syndrome
- Noonan Syndrome with Multiple Lentigines
- Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
- OTOF-Related Deafness
- Oculocutaneous Albinism and Ocular Albinism Overview
- Oculocutaneous Albinism Type 4
- Oculopharyngeal Muscular Dystrophy
- Okur-Chung Neurodevelopmental Syndrome
- Optic Atrophy Type 1
- Oral-Facial-Digital Syndrome Type I
- Ornithine Transcarbamylase Deficiency
- Osteopathia Striata with Cranial Sclerosis
- PACS1 Neurodevelopmental Disorder
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- PAX2-Related Disorder
- PAX6-Related Aniridia
- PI4KA-Related Disorder
- PIK3CA-Related Overgrowth Spectrum
- PINK1 Type of Young-Onset Parkinson Disease
- PLA2G6-Associated Neurodegeneration
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
- PLP1 Disorders
- PLPBP Deficiency
- PMM2-CDG
- PNPLA6 Disorders
- PNPO Deficiency
- POLG-Related Disorders
- POLR3-Related Leukodystrophy
- PORCN-Related Developmental Disorders
- POT1 Tumor Predisposition
- PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
- PPP2R1A-Related Neurodevelopmental Disorder
- PPP2R5D-Related Neurodevelopmental Disorder
- PRICKLE1-Related Disorders
- PROP1-Related Combined Pituitary Hormone Deficiency
- PRRT2-Associated Paroxysmal Movement Disorders
- PRSS1-Related Hereditary Pancreatitis
- PTEN Hamartoma Tumor Syndrome
- PURA-Related Neurodevelopmental Disorders
- Pachyonychia Congenita
- Pancreatitis Overview
- Pantothenate Kinase-Associated Neurodegeneration
- Parkin Type of Early-Onset Parkinson Disease
- Parkinson Disease Overview
- Pediatric Genetic Cholestatic Liver Disease Overview
- Pelizaeus-Merzbacher-Like Disease 1
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
- Periodontal Ehlers-Danlos Syndrome
- Permanent Neonatal Diabetes Mellitus
- Perrault Syndrome
- Peters Plus Syndrome
- Peutz-Jeghers Syndrome
- Phelan-McDermid Syndrome
- Phenylalanine Hydroxylase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- Phosphoribosylpyrophosphate Synthetase Deficiency
- Phosphorylase Kinase Deficiency
- Pitt-Hopkins Syndrome
- Poikiloderma with Neutropenia
- Polycystic Kidney Disease, Autosomal Dominant
- Polycystic Kidney Disease, Autosomal Recessive
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
- Polymicrogyria Overview
- Pompe Disease
- Potocki-Lupski Syndrome
- Prader-Willi Syndrome
- Primary Ciliary Dyskinesia
- Primary Congenital Glaucoma
- Primary Coenzyme Q10 Deficiency Overview
- Primary Familial and Congenital Polycythemia
- Primary Familial Brain Calcification
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- Primary Hyperoxaluria Type 3
- Primary Mitochondrial Disorders Overview
- Primary Pyruvate Dehydrogenase Complex Deficiency Overview
- Primary Trimethylaminuria
- Primrose Syndrome
- Progressive Myoclonic Epilepsy Type 1
- Progressive Myoclonus Epilepsy, Lafora Type
- Progressive Pseudorheumatoid Dysplasia
- Prolidase Deficiency
- Propionic Acidemia
- Proteus Syndrome
- Prothrombin Thrombophilia
- Pseudohypoaldosteronism Type II
- Pseudoxanthoma Elasticum
- Pulmonary Fibrosis Predisposition Overview
- Pycnodysostosis
- Pyridoxine-Dependent Epilepsy – ALDH7A1
- Pyruvate Carboxylase Deficiency
- RAB18 Deficiency
- RERE-Related Disorders
- RFC1 CANVAS / Spectrum Disorder
- RNU4atac-opathy
- ROR2-Related Robinow Syndrome
- RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
- RPS6KA3-Related Intellectual Disability
- RRM2B Mitochondrial DNA Maintenance Defects
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
- Retinoblastoma
- Rhabdoid Tumor Predisposition Syndrome
- Rhizomelic Chondrodysplasia Punctata Type 1
- Riboflavin Transporter Deficiency
- Ritscher-Schinzel Syndrome
- Rothmund-Thomson Syndrome
- Rotor Syndrome
- Rubinstein-Taybi Syndrome
- SALL4-Related Disorders
- SAMD9L Ataxia-Pancytopenia Syndrome
- SATB2-Associated Syndrome
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
- SCN1A Seizure Disorders
- SCN3A-Related Neurodevelopmental Disorder
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
- SCN9A Neuropathic Pain Syndromes
- SERAC1 Deficiency
- SETBP1 Haploinsufficiency Disorder
- SETD1B-Related Neurodevelopmental Disorder
- SETD2 Neurodevelopmental Disorders
- SGCE Myoclonus-Dystonia
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy
- SHORT Syndrome
- SHOX Deficiency Disorders
- Single Large-Scale Mitochondrial DNA Deletion Syndromes
- SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
- SLC25A19-Related Thiamine Metabolism Dysfunction
- SLC25A24 Fontaine Progeroid Syndrome
- SLC26A2-Related Atelosteogenesis
- SLC26A2-Related Multiple Epiphyseal Dysplasia
- SLC39A8-CDG
- SLC39A14 Deficiency
- SLC6A1-Related Neurodevelopmental Disorder
- SLC6A3-Related Dopamine Transporter Deficiency Syndrome
- SOST-Related Sclerosing Bone Dysplasias
- SOX2 Disorder
- SPTBN4 Disorder
- SPTLC1-Related Hereditary Sensory Neuropathy
- STAC3 Disorder
- STAT3 Hyper IgE Syndrome
- STXBP1 Encephalopathy with Epilepsy
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SYNE1 Deficiency
- SYNGAP1-Related Intellectual Disability
- Saethre-Chotzen Syndrome
- Salih Myopathy
- Sandhoff Disease
- Saul-Wilson Syndrome
- Schaaf-Yang Syndrome
- Schimke Immunoosseous Dysplasia
- Schmid Metaphyseal Chondrodysplasia
- Sepiapterin Reductase Deficiency
- Serine Deficiency Disorders
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Shprintzen-Goldberg Syndrome
- Shwachman-Diamond Syndrome
- Sickle Cell Disease
- Silver-Russell Syndrome
- Simpson-Golabi-Behmel Syndrome Type 1
- Sitosterolemia
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Snyder-Robinson Syndrome
- Sotos Syndrome
- Spastic Paraplegia 3A
- Spastic Paraplegia 4
- Spastic Paraplegia 7
- Spastic Paraplegia 8
- Spastic Paraplegia 11
- Spastic Paraplegia 15
- Sphingosine Phosphate Lyase Insufficiency Syndrome
- Spinal and Bulbar Muscular Atrophy
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy, X-Linked Infantile
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 2
- Spinocerebellar Ataxia Type 3
- Spinocerebellar Ataxia Type 6
- Spinocerebellar Ataxia Type 7
- Spinocerebellar Ataxia Type 8
- Spinocerebellar Ataxia Type 10
- Spinocerebellar Ataxia Type 11
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 15
- Spinocerebellar Ataxia Type 17
- Spinocerebellar Ataxia Type 20
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia Type 37
- Spinocerebellar Ataxia Type 38
- Spinocerebellar Ataxia with Axonal Neuropathy Type 1
- Spondylocostal Dysostosis, Autosomal Recessive
- Spondylometaphyseal Dysplasia, Corner Fracture Type
- Squalene Synthase Deficiency
- Stickler Syndrome
- Strømme Syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency
- Systemic Primary Carnitine Deficiency
- TANGO2 Deficiency
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
- TBC1D24-Related Disorders
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
- TEK-Related Venous Malformations
- TET3-Related Beck-Fahrner Syndrome
- TFR2-Related Hemochromatosis
- THOC6 Intellectual Disability Syndrome
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
- TNF Receptor-Associated Periodic Fever Syndrome
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
- TP63-Related Disorders
- TRIO-Related Neurodevelopmental Disorder
- TRMU Deficiency
- TRPM3-Related Neurodevelopmental Disorder
- TSEN54 Pontocerebellar Hypoplasia
- TUBB4A-Related Leukodystrophy
- TXNL4A-Related Craniofacial Disorders
- Tangier Disease
- Tatton-Brown-Rahman Syndrome
- Thanatophoric Dysplasia
- Thiamine-Responsive Megaloblastic Anemia Syndrome
- Three M Syndrome
- Thrombocytopenia Absent Radius Syndrome
- Townes-Brocks Syndrome
- Treacher Collins Syndrome
- Trichohepatoenteric Syndrome
- Trichorhinophalangeal Syndrome
- Troyer Syndrome
- Tuberous Sclerosis Complex
- Tubulinopathies Overview
- Type II Collagen Disorders Overview
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type I
- UNC80 Deficiency
- Udd Distal Myopathy – Tibial Muscular Dystrophy
- Urea Cycle Disorders Overview
- Urofacial Syndrome
- Usher Syndrome Type I
- Usher Syndrome Type II
- VCAN-Related Vitreoretinopathy
- VLDLR Cerebellar Hypoplasia
- VPS13A Disease
- VPS13D Movement Disorder
- VPS35-Related Parkinson Disease
- Variegate Porphyria
- Vascular Ehlers-Danlos Syndrome
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- Von Hippel-Lindau Syndrome
- von Willebrand Disease
- WAC-Related Intellectual Disability
- WARS2 Deficiency
- WAS-Related Disorders
- WDR26-Related Intellectual Disability
- WDR62 Primary Microcephaly
- WFS1 Spectrum Disorder
- WT1 Disorder
- Waardenburg Syndrome Type I
- Warsaw Syndrome
- Weill-Marchesani Syndrome
- Weiss-Kruszka Syndrome
- Werner Syndrome
- White-Sutton Syndrome
- Wiedemann-Steiner Syndrome
- Williams Syndrome
- Wilms Tumor Predisposition
- Wilson Disease
- Woodhouse-Sakati Syndrome
- X-Linked Acrogigantism
- X-Linked Adrenoleukodystrophy
- X-Linked Agammaglobulinemia
- X-Linked Congenital Stationary Night Blindness
- X-Linked Dystonia-Parkinsonism
- X-Linked Hyper IgM Syndrome
- X-Linked Hypophosphatemia
- X-Linked Congenital Retinoschisis
- X-Linked Myotubular Myopathy
- MID1-Related Opitz G/BBB Syndrome
- X-Linked Otopalatodigital Spectrum Disorders
- X-Linked Protoporphyria
- X-Linked Severe Combined Immunodeficiency
- X-Linked Spondyloepiphyseal Dysplasia Tarda
- Xeroderma Pigmentosum
- Xia-Gibbs Syndrome
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
- Y Chromosome Infertility
- ZAP70-Related Combined Immunodeficiency
- Zellweger Spectrum Disorder
- GeneReviews Glossary