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List represents a sample of symptoms, diseases, and other queries. Updated weekly.

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome Autosomal Recessive Bestrophinopathy Acrofacial Dysostosis Type Catania Hypomandibular Faciocranial Dysostosis Acro-Fronto-Facio-Nasal Dysostosis 45,X/46,XY Mixed Gonadal Dysgenesis Dyschondrosteosis-Nephritis Syndrome Familial Progressive Vestibulocochlear Dysfunction Dincsoy-Salih-Patel Syndrome Pentalogy of Cantrell Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Penoscrotal Transposition Cardio-Facio-Cutaneous Syndrome Type 4 Cardio-Facio-Cutaneous Syndrome Type 3 Cardio-Facio-Cutaneous Syndrome Type 2 Cardio-Facio-Cutaneous Syndrome Ostravik-Lindemann-Solberg Syndrome Cardiomyopathy - Cataract - Hip Spine Disease Syndrome Bifid Nose Arrhinia Infantile Choroidocerebral Calcification Syndrome Camptodactyly Syndrome Type Guadalajara 2 Cataract - Microcornea Syndrome Hereditary Mixed Polyposis Syndrome Epithelioid Hemangioendothelioma Mesoaxial Synostotic Syndactyly with Phalangeal Reduction Cortical Blindness-Intellectual Disability-Polydactyly Syndrome Congenital Pseudoarthrosis of the Limbs Congenital Epulis Blue Diaper Syndrome Cataract - Ataxia - Deafness Autosomal Recessive Spinocerebellar Ataxia 8 Congenital Cataract-Ichthyosis Syndrome Congenital Tracheal Stenosis Congenital Subglottic Stenosis Nasal Encephalocele Non-Involuting Congenital Hemangioma Desbuquois Dysplasia Anotia Epignathus Cerebellar Ataxia with Peripheral Neuropathy Type 2 Congenital Cerebellar Hypoplasia Nasal Glial Heterotopia Familial Calcium Pyrophosphate Deposition Monilethrix Nasolacrimal Duct Cyst Calderon Gonzalez Cantu Syndrome Sorsby Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome CAMFAK Syndrome Commissural Facial Cleft Hereditary Corneal Dystrophy Biemond Syndrome Type 2 Cysts and Fistulae of the Face and Oral Cavity Skeletal Dysplasia - Intellectual Disability Syndrome Rapidly Involuting Congenital Hemangioma Greenberg Dysplasia Coats Disease Ring Chromosome 19 Ring Chromosome 14 Syndrome Ring Chromosome 7 Laryngeal Abductor Paralysis Hypoplastic Right Heart Syndrome Colonic Atresia Isolated optic nerve hypoplasia Bangstad Syndrome Bamforth Syndrome Glandular Cheilitis Lip Disease Aurocephalosyndactyly Nodular Localized Cutaneous Amyloidosis Progressive Pseudorheumatoid Dysplasia X-Linked Mandibulofacial Dysostosis Histiocytoid Cardiomyopathy Cerebellar Ataxia-Hypogonadism Syndrome Motor Neuron Disease Type Madras Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia Ataxia - Tapetoretinal Degeneration Syndrome Lemierre Syndrome Stromal Keratitis Cogan Syndrome Preaxial Brachydactyly - Hallux Varus Syndrome Neurotrophic Keratopathy Vulvar Intraepithelial Neoplasia Neonatal Hypoxic and Ischemic Brain Injury Branchio-Oculo-Facial Syndrome Capillary Malformation - Arteriovenous Malformation Syndrome Peripheral Arteriovenous Malformation Pellucid Marginal Degeneration Brachyolmia Congenital Scoliosis due to Bony Malformation Cardiac Anomalies-Heterotaxy Syndrome BOD Syndrome Nephrogenic Systemic Fibrosis Bencze Syndrome Banki Syndrome Congenital Intrauterine Infection-Like Syndrome Blepharoptosis - Myopia - Ectopia Lentis Boomerang Dysplasia Pashayan Syndrome Alopecia - Hypogonadism - Extrapyramidal Syndrome Autosomal Recessive Amelia Amelia Drug Rash with Eosinophilia and Systemic Symptoms Congenital Generalized Hypertrichosis Type Ambras Amaurosis-Hypertrichosis Syndrome Carney Triad Acromegaly - Cutis verticis gyrata - Corneal Leukoma Syndrome Acheiria Charcot-Marie-Tooth Disease Type 2 Testicular Regression Syndrome Adrenomyodystrophy Internal Carotid Agenesis Aicardi-Goutières Syndrome Aicardi-Goutières Syndrome Type 5 Aicardi-Goutières Syndrome Type 3 X-Linked Fetal Akinesia Syndrome Anonychia-Microcephaly Syndrome Microphthalmia with Limb Anomalies Aplasia Cutis Congenita - High Myopia - Cone-Rod Dysfunktion Recessive Aplasia Cutis Congenita of Limbs Non-Syndromic Aplasia Cutis Congenita Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome Balint Syndrome Aprosencephaly and Cerebellar Dysgenesis Immune Hydrops Fetalis Metaphyseal Anadysplasia Cardiac Diverticulum Vein of Galen Aneurysm Hereditary Neurocutaneous Angioma Walker-Dyson Syndrome Hay-Wells Syndrome Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome Familial Visceral Myopathy X-Linked Mental Retardation Type Lubs Trisomy 8q Trisomy 4p Distal Trisomy 14q Mosaic Trisomy 14 Lytic Bone Lesion Acalvaria Acrodysostosis Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome 3-Hydroxyisobutyric Aciduria Insulin-Resistance Syndrome Type A Achalasia - Microcephaly Syndrome Ring Chromosome 21 ABCD Syndrome Mosaic Trisomy 15 Mosaic Trisomy 1 Polyploidy Normokalemic Periodic Paralysis Familial Male-Limited Precocious Puberty Tetrasomy 9p Familial Multiple Nevi Flammei Ring Chromosome 10 Ring Chromosome 20 Syndrome Ring Chromosome 4 Ring Chromosome 1 Chromosome 6 Ring Syndrome Chromosome 8-Derived Supernumerary Ring or Marker Chronic Berylliosis Nasopharyngeal Carcinoma 48,XXYY Syndrome 46,XY Complete Gonadal Dysgenesis 46,XY Sex Reversal Type 5 46,XY Sex Reversal Type 3 46,XY Sex Reversal Type 2 46,XY Sex Reversal Type 7 46,XY Sex Reversal Type 4 Spondylocostal Dysostosis Type 3 Spondylocostal Dysostosis Type 2 Cleft of Hard Palate Classic Migraine Radiation-Induced Meningioma Duane Retraction Syndrome Type 2 Duane Retraction Syndrome Rare Hyperparathyroidism Commissural Lip Fistula Short Stature due to Endocrine Disorder PIBIDS Syndrome Toxic Multinodular Goiter Lujan-Fryns Syndrome Combined Hyperlipidemia Cholesterol-Ester Transfer Protein Deficiency Ballard Syndrome Acquired Hemolytic Anemia Drug-Induced Autoimmune Hemolytic Anemia Atrial Standstill Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability Glial Tumor Anaplastic Oligodendroglioma Toxic Secondary Sideroblastic Anemia Secondary Sideroblastic Anemia due to Disease Cherubism Idiopathic Acute Eosinophilic Pneumonia Acquired Generalized Lipodystrophy Tumor of Endocrine Glands Extragonadal Germinoma Congenital Bilateral Absence of Vas Deferens 46,XX Complete Gonadal Dysgenesis Ovarian Dysgenesis, Hypergonadotropic, X-Linked Familial Abdominal Aortic Aneurysm Joubert Syndrome Type 8 Inherited Ichthyosis Ring Chromosome 22 Malignant Prostate Neoplasm Familial Medullary Thyroid Carcinoma Monosomy 21q Central Areolar Choroidal Dystrophy Congenital Stationary Night Blindness Congenital Stationary Night Blindness Type 1C Autosomal Dominant Congenital Stationary Night Blindness Type 1 Autosomal Dominant Congenital Stationary Night Blindness Type 3 Congenital Stationary Night Blindness Type 2A Congenital Stationary Night Blindness Type 1B Autosomal Dominant Congenital Stationary Night Blindness Type 2 Bilateral Massive Adrenal Hemorrhage Autosomal Dominant Progressive Nephropathy with Hypertension Young-Onset Parkinson Disease Campomelic Dysplasia Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy Autoimmune Pancreatitis Caudal Regression Sequence Atrial Tachyarrhythmia with Short PR Interval Seckel Syndrome Type 5 Woods-Leversha-Rogers Syndrome Reticular Dysgenesis Laryngocele Autosomal Dominant Hyper-IgE Syndrome Transient Familial Neonatal Hyperbilirubinemia Neutrophil Immunodeficiency Syndrome Malignant Kidney Neoplasm except Renal Pelvis Juvenile Polyposis Syndrome Genetic Anomaly of Leukocytes CANOMAD Syndrome Arnold-Chiari Malformation Type 2 Atrial Septal Defect Type Ostium Primum Chronic Chagas Disease with Heart Involvement Acute Chagas Disease without Heart Involvement Acute Chagas Disease with Heart Involvement West Syndrome Early Infantile Epileptic Encephalopathy with Suppression-Burst Mast Cell Sarcoma Embryonal Rhabdomyosarcoma Type 1 Pyridoxine-Dependent Epilepsy Primary Pigmented Nodular Adrenocortical Disease Familial Isolated Hypoparathyroidism Pulmonary Capillary Hemangiomatosis Corticosteroid-Binding-Globulin - Deficiency Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease Ledderhose Disease Atypical Glycine Encephalopathy ACTH-Independent Cushing Syndrome Congenital Isolated ACTH Deficiency Adenohypophysitis Congenital Atransferrinemia Diffuse Alveolar Hemorrhage Tetragametic Chimerism Congenital Bronchobiliary Fistula 15q13.3 Microdeletion Syndrome Calcified Aponeurotic Fibroma Familial Angiolipomatosis Familial Multiple Lipomatosis Adiposis Dolorosa Hereditary Hypercarotenemia and Vitamin A Deficiency Harlequin Syndrome Congenital Microgastria Familial Alzheimer-Like Prion Disease Legionellosis Maternally-Inherited Diabetes and Deafness Congenital Mesoblastic Nephroma Acute Endophthalmitis Autosomal Dominant Primary Hypomagnesemia with Hypocalciuria Extramammary Paget Disease Congenital Herpes Virus Infection Paroxysmal Dyskinesia Stickler Syndrome Type 4 Non-Syndromic Ocular Stickler Syndrome Type 1 Echinococcus Multilocularis Infection of Liver Interatrial Communication Congenital Tricuspid Stenosis Basal Encephalocele Lethal Congenital Neutropenia with Eosinophilia Brucella Suis Larynx Atresia Congenital Laryngeal Cyst Apple Peel Small Intestinal Atresia Atresia of Small Intestine Blindness - Scoliosis - Arachnodactyly Syndrome Invasive Non-Typhoidal Salmonellosis Paratyphoid Fever Typhoid Fever Central Polydactyly of Toes Central Polydactyly of Fingers Autosomal Recessive Primary Microcephaly Type 7 Microcephaly with Simplified Gyral Pattern Spondyloepimetaphyseal Dysplasia Type Aggrecan Bladder Exstrophy Acquired Amyloid Myopathy Idiopathic Bilateral Vestibulopathy Hemolytic Anemia due to Deficient Glutathione Synthesis Maple Syrup Urine Disease Mild Variant Periventricular Leukomalacia Xanthinuria Type 2 White Sponge Nevus Male Infertility due to Globozoospermia Familial Primary Pulmonary Hypoplasia Bronchiolitis Obliterans with Obstructive Pulmonary Disease Sitosterolemia Congenital Hypothyroidism without Goiter Congenital Hypothyroidism with Diffuse Goiter Endemic Cretinism Mixed Type Endemic Cretinism Myxedematous Type Endemic Cretinism Neurological Type Leydig Cell Hypoplasia Autosomal Dominant Keratitis Alternating Hemiplegia of Childhood Retinitis Pigmentosa 61 Retinitis pigmentosa 48 Retinitis pigmentosa 43 Retinitis pigmentosa 39 Retinitis Pigmentosa 20 Retinitis pigmentosa 44 Retinitis Pigmentosa 45 Retinitis pigmentosa 47 Retinitis pigmentosa 49 Retinitis Pigmentosa 58 Retinitis Pigmentosa 55 Retinitis Pigmentosa 51 Retinitis Pigmentosa 54 Retinitis Pigmentosa 50 Retinitis pigmentosa 36 Retinitis Pigmentosa 33 Retinitis Pigmentosa 32 Retinitis Pigmentosa 26 Retinitis Pigmentosa 30 Retinitis pigmentosa 28 Leber Congenital Amaurosis Type 3 Retinitis Pigmentosa 25 Retinitis Pigmentosa 22 Retinitis Pigmentosa 19 Retinitis pigmentosa 18 Retinitis pigmentosa 14 Retinitis pigmentosa 12 Retinitis Pigmentosa 13 Y-Linked Retinitis pigmentosa Retinitis Pigmentosa 6 Retinitis Pigmentosa 2 Retinitis Pigmentosa 15 Pericentral Retinitis Pigmentosa Late-Adult Onset Retinitis Pigmentosa Dominant Pericentral Pigmentary Retinopathy Retinitis pigmentosa 10 Retinitis Pigmentosa 1 Transient Neonatal Hypothyroidism Long QT Syndrome 12 Jervell-Lange-Nielsen Syndrome Type 2 Long QT Syndrome 9 Long QT Syndrome 8 Pelizaeus-Merzbacher-like Brain Sclerosis Usher Syndrome Type 1H Usher Syndrome Type 2D Dowling-Degos Disease Beta-Thalassemia Associated with Another Hemoglobin Anomaly Åland Islands Eye Disease Acute Lung Injury Epidermolysis Bullosa Simplex Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency Classic Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Congenital Lipoid Adrenal Hyperplasia Osteogenesis Imperfecta Typ 4 Osteogenesis Imperfecta Type 3 Myopic Macular Degeneration Focal Myositis Folliculotropic Mycosis Fungoides Localized Pagetoid Reticulosis Angioimmunoblastic T-Cell Lymphoma Primary Cutaneous Marginal Zone B-Cell Lymphoma Primary Cutaneous Follicle Center Lymphoma Inflammatory Myofibroblastic Tumor Aromatase excess syndrome Auriculocondylar Syndrome Autosomal Recessive Osteopetrosis Type 7 Bipartite Talus Hereditary Proximal Myopathy with Early Respiratory Failure Wound Botulism Autosomal Dominant Mental Retardation Type 11 Autosomal Dominant Mental Retardation Type 10 Autosomal Dominant Mental Retardation Type 9 Autosomal Dominant Neurodevelopmental Disorder - Hyperkinetic Movements - Seizures Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Mental Retardation Type 7 Autosomal Dominant Mental Retardation Type 6 Autosomal Dominant Mental Retardation Type 4 Autosomal Dominant Mental Retardation Type 3 Intestinal Botulism Nivelon-Nivelon-Mabille Syndrome Cerebrotendinous Xanthomatosis Tracheal Agenesis Familial Porencephaly Primary Cutaneous B-Cell Lymphoma Cerebro-Oculo-Facio-Skeletal Syndrome Type 2 Familial Juvenile Hypertrophy of the Breast AApoAIV Amyloidosis Non-Neuropathic Heredofamilial Amyloidosis Other Inherited Spinal Muscular Atrophy Fanconi Anemia Complementation Group L Fanconi Anemia Complementation Group G Fanconi Anemia Complementation Group N Fanconi Anemia Complementation Group J Fanconi Anemia Complementation Group I Fanconi Anemia Complementation Group F Fanconi Anemia Complementation Group E Fanconi Anemia Complementation Group B Fanconi Anemia Complementation Group A Fanconi Anemia Complementation Group D2 Fanconi Anemia Complementation Group C Nonsyndromic Isolated Dilated Cardiomyopathy Familial Isolated Dilated Cardiomyopathy Uterine Cervical Aplasia and Agenesis Agenesis or Aplasia of Uterine Body X-Linked Recessive Ocular Albinism Alzheimer Disease Type 8 Early-Onset Autosomal Dominant Alzheimer Disease Bicornuate Uterus Septate Uterus Hand-Foot-Genital Syndrome Bicervical Bicornuate Uterus and Blind Hemivagina Pseudounicornuate Uterus Leptin Receptor Deficiency Phyllode Tumor Short Rib-Polydactyly Syndrome Benign Breast Tumor Muir-Torre Syndrome Congenital Laryngeal Web Malignant Tumor of Fallopian Tubes Benign Tumor of Fallopian Tubes Congenital Laryngomalacia Mixed Germ Cell Tumor Congenital Pulmonary Lymphangiectasia Congenital Macroglossia Malignant Vaginal Neoplasm Acral Peeling Skin Syndrome Polyembryoma Embryonal Carcinoma Polymastia Foveal Hypoplasia Type 1 Isolated Congenital Breast Hypoplasia or Aplasia Disorder of Fructose Metabolism Pseudo-Zellweger Syndrome Disorder of Sex Development - Intellectual Disability Syndrome Familial Spontaneous Pneumothorax Proteus Syndrome Autosomal Recessive Osteopetrosis Type 3 Paget Disease of the Skull Micromelic Bone Dysplasia with Cloverleaf Skull Congenital Exomphalos Bilateral Multicystic Dysplastic Kidney Adult-Onset Cervical Dystonia Type DYT23 Congenital Enterovirus Infection Laryngo-Tracheo-Esophageal Cleft Congenital Fiber-Type Disproportion Myopathy Galactosialidosis Congenital Communicating Hydrocephalus Congenital Diaphragmatic Hernia Type 3 Anterior Diaphragmatic Hernia Congenital Diaphragmatic Hernia Type 2 African Iron Overload Neonatal Severe Primary Hyperparathyroidism Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Adenosine Monophosphate Deaminase Deficiency Biotinidase Deficiency D-Glyceric Aciduria Lichen Myxoedematosus Disorders of Pyruvate Metabolism and Gluconeogenesis Molybdenum Cofactor Deficiency Type C Brosnan Syndrome 46,XX Ovotesticular Disorder of Sex Development Neuronal Ceroid Lipofuscinosis Type 5 Neurogenic Arthrogryposis Multiplex Congenita Gillespie Syndrome Congenital Non-Progressive Ataxia Erdheim-Chester Disease 46,XY Gonadal Dysgenesis - Motor and Sensory Neuropathy Syndrome Blackfan-Diamond Anemia Type 10 Diamond-Blackfan Anemia Type 9 Diamond-Blackfan Anemia Type 4 Diamond-Blackfan Anemia 2 Arthrogryposis Syndrome Arthrogryposis due to Muscular Dystrophy Seborrhea-Like Dermatitis with Psoriasiform Elements Congenital Enteropathy due to Enteropeptidase Deficiency Aromatase Deficiency Hereditary Cryohydrocytosis with Reduced Stomatin Familial Candidiasis Type 6 Immunodeficiency Type 51 Monocyte Chemotactic Disorder Lymphokine Deficiency Familial Candidiasis Type 1 Candidiasis of Skin and Nails Hereditary North American Indian Childhood Cirrhosis Pervasive Developmental Disorder Asperger Syndrome Overactive Disorder Associated with Mental Retardation and Stereotyped Movements Atypical Autism Familial Scaphocephaly Syndrome Type McGillivray Autosomal Dominant Coarctation of Aorta Acro-Pectoral Syndrome Ring Chromosome 18 Congenital Deficiency in Alpha-fetoprotein Hereditary Persistence of Alpha-Fetoprotein Tetrasomy X 2-Methylbutyryl-CoA Dehydrogenase Deficiency Autosomal Dominant Aarskog-Scott Syndrome Adenine Phosphoribosyl Transferase Deficiency Mevalonate Kinase Deficiency Combined Oxidative Phosphorylation Defect Type 14 2-Hydroxyglutaric Aciduria Waters-West Syndrome Mucocutaneous Venous Malformations Isolated Familial Somatotropinoma Gigantism - Acromegaly Alkaptonuria Neonatal Adrenoleukodystrophy Infantile Refsum Disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency Familial Scaphocephaly Syndrome Tetrasomy 18p Immuno-Osseous Dysplasia X-Linked Centronuclear Myopathy Classic Galactosemia Recurrent Infection due to Specific Granule Deficiency Neuronal Ceroid Lipofuscinosis Neurodegeneration with Brain Iron Accumulation T-B+ Severe Combined Immunodeficiency due to CD3zeta Immunodeficiency due to a C5 to C9 Complement Component Deficiency Erythroderma Desquamativum Female with more than three X Chromosomes Refsum Disease Type 2 Large Congenital Melanocytic Nevus Isolated Complex I Deficiency Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome Myeloid Neoplasm Associated with PDGFRB Rearrangement Myeloid Neoplasm Associated with FGFR1 Rearrangement Refractory Anemia with Excess Blasts in Transformation Composite Lymphoma Childhood Disintegrative Disorder Coffin-Siris Syndrome 9 Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 3 Coffin-Siris Syndrome 2 Hemolytic Anemia due to a Disorder of Glycolytic Enzymes Malignant Peritoneal Mesothelioma Absent Thumb - Short Stature - Immunodeficiency Syndrome Activated PI3K-Delta Syndrome Immunoglobulin Heavy Chain Deficiency Partial Trisomy 13 in Patau Syndrome Distal Trisomy 15q Mosaic Trisomy 18 Trisomy 18p Trisomy 10p Cernunnos-XLF Deficiency Minor Partial Trisomy Albinism-Deafness Syndrome Low Anorectal Malformation Idiopathic Achalasia Holoprosencephaly Type 11 Holoprosencephaly Type 7 Holoprosencephaly Type 8 Holoprosencephaly Type 6 Cyclopia Holoprosencephaly Type 4 Holoprosencephaly Type 3 Alobar Holoprosencephaly High Anorectal Malformation Progressive Myoclonic Epilepsy Type 1 Bruck Syndrome Adult-Onset Nemaline Myopathy Oculocutaneous Albinism Ermine Phenotype Ocular Albinism with Late-Onset Sensorineural Deafness Autosomal Recessive Congenital Ichthyosis Type 3 Autosomal Recessive Congenital Ichthyosis Type 4A Lamellar Ichthyosis Central Precocious Puberty Congenital Malformation Syndromes Involving Early Overgrowth Chromosome Y Deletion Chromosome Y Structural Anomaly Meckel Syndrome Type 9 Meckel Syndrome Type 8 Meckel Syndrome Type 6 Meckel Syndrome Type 4 Meckel Syndrome Type 3 Meckel Syndrome Type 2 Cystic Kidney Disease Familial Hemophagocytic Lymphohistiocytosis Severe Hemophilia A Hereditary Deficiency of Clotting Factors Mild Hemophilia A Autosomal Hemophilia A X-Linked Lymphoproliferative Disease 2 Hypolipoproteinemia Congenital Malformation of the Corpus callosum Congenital Malformation Syndromes Affecting Facial Appearance Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome Atelosteogenesis Type 2 Waardenburg Syndrome Type 2 Waardenburg Syndrome Type 2C Waardenburg Syndrome 2B Alpha-1 Antichymotrypsin Deficiency Hereditary Motor and Sensory Neuropathy Noonan Syndrome 3 Hypohidrotic Ectodermal Dysplasia Neurofibromatosis Type 2 Alveolar Soft-Tissue Sarcoma Color Blindness Chronic Granulomatous Disease Rolandic Epilepsy - Speech Dyspraxia Syndrome Febrile Infection-Related Epilepsy Syndrome 17q11 Microdeletion Syndrome Familial Temporal Lobe Epilepsy Type 6 Aqueduct of Sylvius Anomaly Non-Immune Hydrops Fetalis Phosphorus Metabolic Disorder Spondyloepiphyseal Dysplasia Tarda Type Kohn Disorder of Sulfur-Bearing Amino Acid Metabolism Spondyloepiphyseal Dysplasia Type Byers Disorder of Ornithine Metabolism SMAX1-Related Spinobulbar Muscular Atrophy Combined Immunodeficiency due to CD3-Gamma Deficiency Spondyloepiphyseal Dysplasia Type Nishimura Isolated Growth Hormone Deficiency Type 4 X-Linked Intellectual Disability with Panhypopituitarism Kowarski Syndrome Isolated Growth Hormone Deficiency Type 2 Congenital Malformation Syndromes Predominantly Involving Limbs Craniorhiny Hereditary Retinal Dystrophy X-Linked Mixed Deafness with Perilymphatic Gusher Congenital Anomaly of the Retina Bonnemann-Meinecke-Reich Syndrome Disorder of Copper Metabolism Isolated Agammaglobulinemia Autosomal Agammaglobulinemia Congenital Malformation Syndromes Predominantly Associated with Short Stature Acute Rheumatic Endocarditis Hyperinsulinism due to Glucokinase Deficiency Familial Hyperthyroidism due to Mutations in TSH Receptor Cavitary Myiasis Amyotrophic Lateral Sclerosis Type 22 Amyotrophic Lateral Sclerosis Type 20 Amyotrophic Lateral Sclerosis Type 18 Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 12 Amyotrophic Lateral Sclerosis Type 11 Amyotrophic Lateral Sclerosis Type 9 Amyotrophic Lateral Sclerosis Type 8 Amyotrophic Lateral Sclerosis Type 7 Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 3 Amyotrophic Lateral Sclerosis with Polyglucosan Bodies Hypernychthemeral Syndrome Juvenile Absence Epilepsy Generalized Epilepsy with Febrile Seizures Plus 10q22.3-q23.3 Microdeletion Syndrome Biotin-Responsive Basal Ganglia Disease X-Linked Mental Retardation - Spastic Paraplegia Syndrome Isolated Congenital Auditory Ossicle Malformation X-Linked Syndromic Mental Retardation Type Raymond Atopic Keratoconjunctivitis Palmoplantar Pustulosis Myotonic Syndrome Nemaline Myopathy Type 8 Batten-Turner Congenital Myopathy Classic Paraneoplastic Limbic Encephalitis Alpha-B Crystallinopathy Congenital Fibrosis of Extraocular Muscles Facioscapulohumeral Dystrophy Emery-Dreifuss Muscular Dystrophy Metabolic Disease with Epilepsy Beta Thalassemia Early-Onset Cerebellar Ataxia 46,XX Ovarian Dysgenesis-Short Stature Syndrome Mosaic Monosomy X Recessive X-Linked Ichthyosis without Steroid Sulfatase Deficiency GM2-Gangliosidosis Photosensitive Epilepsy Dirofilariasis Congenital Non-Neoplastic Nevus Gangliosidosis GM1 Mucolipidosis Type 2 Mucolipidosis Type 3 Dentinogenesis Imperfecta Type 3 Hereditary Disturbances in Tooth Structure Local Lupus Erythematosus Cutaneous Lupus Erythematosus Bazex Syndrome Mitochondrial Myopathy Auriculoosteodysplasia Von Willebrand Disease Type 2N Von Willebrand Disease Type 2B Von Willebrand Disease Type 2M Von Willebrand Disease Type 2A Disorders of Amino-Acid Transport Beta-Mannosidosis Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome Defects in Glycoprotein Degradation Multiple Epiphyseal Dysplasia Type Al-Gazali Glomerulosclerosis Acute Renal Injury Streptococcal Pharyngitis Keratoconjunctivitis Sicca Pulmonary Vascular Disorders Focal Seizure Candida Sclerosing Cholangitis Anterior Uveitis Chronic Periodontitis Radiculitis Cognitive Disorder Parotitis Leukoplakia Enteritis Neonatal Neutropenia Cholecystolithiasis Taenia Solium Joint Subluxation Acute Interstitial Nephritis Dyslipidemia Dysautonomia Generalized Seizure Bowing of The Long Bones Microdontia Immunologic Deficiency Syndromes Diverticulosis Systemic Lupus Erythematosus with Organ/System Involvement Chronic Cholangitis Pure Red Cell Aplasia Meningococcal Infection Gastroenteritis Candidiasis Pulmonary Lymphangioleiomyomatosis Liver Fibrosis Skin Atrophy Calcinosis Cutis Pruritic Rash Decreased Libido Varicella-Zoster Virus Infection Hernia Dysostosis Synovitis Tonic-Clonic Seizure Enthesopathy Obsessive Thoughts Coronary Heart Disease Dolichocephaly Angiomatosis Postoperative Hemorrhage Leg Edema Bilateral Leg Weakness Osteoporosis Claustrophobia Aphasia Anorexia Ptosis Cushing Syndrome Rectal Bleeding Nail Abnormality Paresis Muscular Fasciculation Gangrene Hypergammaglobulinemia Kidney Failure Fever of Unknown Origin Angiokeratoma Difficulty Concentrating Hypersomnia Abdominal Bloating Soft Tissue Swelling Brachydactyly Macrocephaly Arhinencephaly Color Vision Deficit (Green or Red Green) Favorable Response to Clonazepam Male-Pattern Baldness Interstitial Pneumonia Connective Tissue Dysplasia Eschar Formation Ischemic Stroke Intracranial Aneurysms Puberty Delayed Small Cell Carcinoma of the Ovary of Hypercalcemic Type Paroxysmal or Persistent Atrial Fibrillation Laryngomalacia Porencephaly Multiple Intestinal Atresia Iridocorneal Dysgenesis Alveolar Capillary Dysplasia Dysdiadochokinesis Atlanto-Occipital Instability Fibrous Dysplasia Partial Agenesis of the Corpus Callosum Osteochondritis Dissecans of Shoulders, Elbows, and Knees Unilateral Hearing Loss Fetal Akinesia Sequence Breech Presentation Dilation of Vein of Galen Bilateral Conductive Hearing Loss Idiopathic Generalized Epilepsy in Childhood Recurrent Shingles Small Vessel Cerebrovascular Disease Severe Dilated Cardiomyopathy Migraine with or without Aura Generalized Follicular Keratosis Coagulopathy (INR = 2.2-3.5) Cleft Lip - Cleft Palate Brain Atrophy Primary or Secondary Amenorrhea 'Intestinal Pseudotuberculosis' Shallow Breathing - Tidal Volume Decreased Acrocephalosyndactyly Central Hypoventilation Hemophagocytic Lymphohistiocytosis Trigonocephaly Sensory Ataxia Bicuspid Aortic Valve Diffuse Mesangial Sclerosis Linear Porokeratosis Urethral Prolapse Androgenic Alopecia Malformed Thoracic Vertebrae Right-Sided Diaphragmatic Hernia Hypodontia Craniofacial Dysplasia Primary Hypothyroidism Abnormality of the Auricle Myosin Storage Myopathy Peripheral Artery Occlusive Disease Coronary Artery Disease Aldolase A Deficiency Hypophosphatemic Rickets Myoclonic Seizures Childhood-Onset Systemic Lupus Erythematosus Lymphocytic Vasculitis Epileptic Encephalopathy Metopic Suture Synostosis Narrow Head Avascular Necrosis of the Hip Persistent Atrial Fibrillation Severe Brain Damage Cerebellar Hypoplasia and Atrophy Meniscal Lesions Spondylolysis Uvula Abnormal Steroid-Resistant Nephrotic Syndrome Bulbar Palsy Autoimmune Enteropathy Arachnoid Cysts Narrowness of Intervertebral Disc Space Anorectal Anomalies Absent Auditory Canals Hyperglycinemia Hypoplasia or Aplasia of Thymus Progressive Loss of Visual Acuity Abnormality of the Ear Atrioventricular Septal Defect Small-Fiber Neuropathy Subcortical Nodular Grey Matter Heterotopia Superior Semicircular Canal Dehiscence Delayed Motor Nerve Conduction Velocity Lack of Speech or Poor Speech Optic Nerve Hypoplasia Mega-Cisterna Magna Hip Subluxation Generalized Amyoplasia Calf Muscle Discomfort Macrodactyly Neural Tube Defect Autosomal Recessive Cytochrome B-Positive CGD Type 2 Autoimmune Neutropenia Hyperphalangism Congenital Myasthenic Syndrome Adenocarcinoma of the Lung Neuronal Migration Defect Chronic Vaginal Candidiasis Calcinosis Cutis Metastatica Complex Cardiac Malformation Abnormal Gastrointestinal Motility Mild Dysmorphic Features Pancreatic Exocrine Deficiency Duodenal and-or Jejunal Atresia Parotid Gland Adenoma and Adenocarcinoma Episodic Jaundice Malformations of the Auditory Ossicles Michel Aplasia Protrusio Acetabuli Generalized Brain Atrophy Cerebellar Stroke Childhood Absence Seizures Endolymphatic Sac Tumor Anterior Open Bite Peripheral Polyneuropathy Phalangeal Dislocation Selective Tooth Agenesis Benign Tumors of the Eye, Heart, and Lungs Rare Skin Cancers Patella Aplasia - Hypoplasia Unilateral Hypoplasia or Absence of Pectoralis Major Muscle Planovalgus Atopic Disorders (Eczema, Food Allergy, Asthma) Dysphonia due to Muscle Weakness Ethylmalonic Aciduria Vestibular Aqueduct Dilated 2,8-Dihydroxyadenine Urinary Stones Hereditary Antithrombin Deficiency Type 1 Brachydactyly Type E1 Upward Displacement of Ocular Globes Severe Acne Abnormality of the Middle Ear Monosomy for 22q11 Chronic or End-Stage Renal Failure Recurrent Candida Infections Growth Failure V-Pattern Esotropia Prolonged Neonatal Jaundice Death at Birth or Shortly after Birth Plasmalogen Deficiency Diminished Force of Urine Stream Papillomas in Perioral, Nasal and Anal Regions Dental Fusion Meconium Ileus in Neonates (10-15%) Amelogenesis Imperfecta Hypocalcified Type Late-Onset Spinocerebellar Degeneration Renal Lymphangiectasia Lateral or Midline Cleft Lip Severe Intrauterine Growth Retardation Mental Retardation of Variable Severity Hypersensitive to Stimuli Pes Planus Valgus Small Pelvic Inlet NADH Cytochrome B5 Reductase Deficiency Activity of Mitochondrial Complex II Decreased Organic Aciduria Focal Dystonia Cutis Verticis Gyrata Fusion of Tarsal Bones Uterine Rupture during Pregnancy Hip Joint Replacement Often Necessary Trichodiscomas - Tumor of the Hair Disc Unusual Fears Carnitine Palmitoyltransferase I Deficiency Microvesicular Hepatic Steatosis Vitamin B12 Deficiency due to Intestinal Malabsorption Abnormal Foreskin Renovascular Hypertension Epiglottis Absent or Abnormal Occasional Back Pain Intraoral Frenula Liver Copper High Xanthine Urolithiasis Generalized Clonic or Tonic-Clonic Seizures Mucocutaneous Herpes Simplex Infection Duane Anomaly Squamous Cell Carcinoma - Skin or Mucosa Skin Peeling or Scaling Neonatal or Infant Death Recurrent Respiratory Infection Migraine with Aura Contiguous Gene Syndrome due to Deletion of HBA1 and HBA2 Upturned Nostrils Pneumocystis Carinii Infection Atrophic Patchy Alopecia Gut Dysmotility Self-Absorbed Weakness of Orbicularis Oculi Muscles Gastrointestinal Dysmotility Distal Sensory Loss (all Modalities) Red-Blind Color Blindness Aplasia or Hypoplasia of Halluces Lacrimal Duct Defect Mandibular Cyst Premature Menopause Hyperhidrosis - Hands and Feet Inclusion Body Myopathy Congenital Bowing of the Long Bones Carnitine Deficiency Familial Isolated Trichomegaly Unilateral Vocal Cord Paralysis Hypoxemia Avoidant Personality Traits Abnormal Movement Advanced Bone Age Abnormal Eye Movement Short Palpebral Fissure Gingival Overgrowth