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9001 to 10000 most common queries
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