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16Q24.3 Microdeletion Syndrome
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo Erickson Syndrome
acquired immunodeficiency syndrome +
Acromegaloid Facial Appearance Syndrome
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
Aicardi-Goutieres syndrome +
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
Alacrima, Achalasia, and Mental Retardation Syndrome
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
ALKURAYA-KUCINSKAS SYNDROME
Allan-Herndon-Dudley syndrome
Allanson Pantzar McLeod Syndrome +
Aloi Tomasini Isaia Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia-Mental Retardation Syndrome +
alpha thalassemia-X-linked intellectual disability syndrome
Alpha-Thalassemia Myelodysplasia Syndrome
Alves Castelo dos Santos Syndrome
Ameloonychohypohidrotic Syndrome
androgen insensitivity syndrome +
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior spinal artery syndrome
antiphospholipid syndrome +
apparent mineralocorticoid excess syndrome
Arnold Stickler Bourne Syndrome
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
asphyxiating thoracic dystrophy +
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
Ataxia, Deafness, and Cardiomyopathy
Ataxia-Microcephaly-Cataract Syndrome
Atrial Dilation and Standstill +
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal recessive cutis laxa type III +
autosomal recessive limb-girdle muscular dystrophy type 2D
autosomal recessive pericentral pigmentary retinopathy
Axenfeld-Rieger syndrome +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bagatelle Cassidy syndrome
Bainbridge-Ropers Syndrome
Baraitser Brett Piesowicz Syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
Bent Bone Dysplasia Syndrome
Bernard-Soulier syndrome +
Bhaskar Jagannathan Syndrome
BIRK-LANDAU-PEREZ SYNDROME
blepharocheilodontic syndrome +
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Bone Marrow Failure Syndromes +
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
Brachioskeletogenital Syndrome
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Brain-Lung-Thyroid Syndrome
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
Burnett Schwartz Berberian Syndrome +
Buschke-Ollendorff Syndrome
Camera Marugo Cohen Syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
Cardiac-Urogenital Syndrome
cardiofaciocutaneous syndrome +
Cardiomyopathy Associated with Myopathy and Sudden Death
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
Cartwright Nelson Fryns Syndrome
Cataract Microcornea Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cayler Cardiofacial Syndrome
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellofaciodental Syndrome
cerebral creatine deficiency syndrome +
cerebrocostomandibular syndrome
Cerebrooculonasal Syndrome
Chang Davidson Carlson Syndrome
Chemke Oliver Mallek Syndrome
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
chromosomal deletion syndrome +
chromosomal duplication syndrome +
Chromosome 13q Deletion Syndrome +
CHROMOSOME 2p16.3 DELETION SYNDROME
Chromosome 2q37 Deletion Syndrome
Chromosome 3 Duplication Syndrome
Chromosome 4, 4q Terminal Deletion Syndrome
chromosome 5q deletion syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate-lateral synechia syndrome
Cleidorhizomelic Syndrome
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
complex regional pain syndrome +
Cone Dystrophy, X-Linked, with Tapetal-like Sheen
Cone Rod Dystrophy Amelogenesis Imperfecta
congenital central hypoventilation syndrome
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Pain Insensitivity +
Contiguous Abcd1/Dxs1375e Deletion Syndrome
Corneal Cerebellar Syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
Cranioacrofacial Syndrome
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Laxa-Marfanoid Syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cyprus Facial Neuromusculoskeletal Syndrome
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione Syndrome
Deafness Oligodontia Syndrome
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deal Barratt Dillon Syndrome
Dennis Fairhurst Moore Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
Diabetic Cardiomyopathies
Dianzani Autoimmune Lymphoproliferative Syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
diffuse infiltrative lymphocytosis syndrome
Digitorenocerebral Syndrome
Dincsoy Salih Patel Syndrome
Distal Trisomy 10q Syndrome
dominant pericentral pigmentary retinopathy
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray syndrome
Duker Weiss Siber syndrome
Dyggve-Melchior-Clausen disease +
Dykes Markes Harper Syndrome
dysplastic nevus syndrome +
Early-Onset Myopathy with Fatal Cardiomyopathy
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
endocardial fibroelastosis +
endocrine-cerebro-osteodysplasia syndrome
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
extrinsic cardiomyopathy +
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Failed Back Surgery Syndrome
Familial Antiphospholipid Syndrome
Familial Cardiac Lipidosis
Familial Cyclic Vomiting Syndrome
Familial Horizontal Gaze Palsy with Progressive Scoliosis +
Familial Hyperchylomicronemia Syndrome
Familial Popliteal Pterygium Syndrome
Fara Chlupackova Syndrome
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Faye-Petersen Ward Carey Syndrome
Feigenbaum Bergeron Richardson Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrogenesis imperfecta ossium
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Foix Chavany Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fowler Christmas Chapple Syndrome
Franceschini Vardeu Guala syndrome
Fraser Jequier Chen Syndrome
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
Ghose Sachdev Kumar Syndrome
Gilles de la Tourette syndrome +
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
GLUT1 Deficiency Syndrome
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Graham Boyle Troxell Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
hereditary breast ovarian cancer syndrome
hereditary fructose intolerance syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Hermansky-Pudlak syndrome +
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopk Syndrome
high pressure neurological syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
hypereosinophilic syndrome +
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
Hypertaurinuric Cardiomyopathy
hypertelorism, microtia, facial clefting syndrome
hypogonadotropic hypogonadism 23 with or without anosmia
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Follicularis Atrichia Photophobia Syndrome
Ichthyosis Prematurity Syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
inappropriate ADH syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
infancy electroclinical syndrome +
infantile histiocytoid cardiomyopathy
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
intrinsic cardiomyopathy +
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
isolated microphthalmia 5
Isotretinoin Embryopathy Like Syndrome
Jagell Holmgren Hofer Syndrome
Johnson Neuroectodermal Syndrome
Johnston Aarons Schelley Syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Jung Wolff Back Stahl Syndrome
juvenile polyposis syndrome +
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha syndrome
Karandikar Maria Kamble Syndrome
Kasabach-Merritt Syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Kearns-Sayre syndrome A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Kennerknecht Sorgo Oberhoffer Syndrome
Kennerknecht Vogel Syndrome
Keratitis-Ichthyosis-Deafness Syndrome
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome +
Kocher-Debre-Semelaigne Syndrome
Kohlschutter Tonz Syndrome
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
KOSAKI OVERGROWTH SYNDROME
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
Ladda Zonana Ramer syndrome
Lambert-Eaton myasthenic syndrome
Laplane Fontaine Lagardere Syndrome
Laryngo Onycho Cutaneous Syndrome
late-adult onset retinitis pigmentosa
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Leichtman Wood Rohn Syndrome
lethal congenital contracture syndrome +
Light Fixation Seizure Syndrome
Linear Skin Defects with Multiple Congenital Anomalies 3
Loose Anagen Hair Syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME
Lutz Richner Landolt Syndrome
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
Lysine Malabsorption Syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
macrocephaly-autism syndrome
Macrophage Activation Syndrome
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
Malabsorption Syndromes +
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
Marden Walker Like Syndrome
Marfanoid Hypermobility Syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Megakaryoblastic Leukemia of Down Syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Merlob Grunebaum Reisner Syndrome
MERRF/MELAS Overlap Syndrome
Mesomelia-Synostoses Syndrome
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Methionine Malabsorption Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Michelin Tire Baby Syndrome +
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Epilepsy, and Diabetes Syndrome
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Cardiomyopathy
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 8A
mixed connective tissue disease
Mollica Pavone Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome +
Mousa Al din Al Nassar Syndrome
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
Muller Barth Menger Syndrome
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Hamartoma Syndrome +
multiple mitochondrial dysfunctions syndrome +
multiple pterygium syndrome +
multiple synostoses syndrome +
multiple system atrophy +
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Muscular Dystrophy, Cardiac Type
myelodysplastic syndrome +
Myocardial Reperfusion Injury
myofascial pain syndrome +
Myopathy, Cataract, Hypogonadism Syndrome
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
neonatal abstinence syndrome
nerve compression syndrome +
Nestor-Guillermo Progeria Syndrome
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
Neurofaciodigitorenal Syndrome
Neurofibromatosis-Noonan Syndrome
Neutropenic Enterocolitis
Neutrophil Immunodeficiency Syndrome
nevoid basal cell carcinoma syndrome +
Newfoundland cone-rod dystrophy
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Nijmegen breakage syndrome +
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
Nonkeratan-Sulfate-Excreting Morquio Syndrome
O'Donnell Pappas Syndrome
O'DONNELL-LURIA-RODAN SYNDROME
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal syndrome
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
Opitz Reynolds Fitzgerald syndrome
Opitz Trigonocephaly Syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
ornithine translocase deficiency
orofaciodigital syndrome +
Orstavik Lindemann Solberg Syndrome
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
ovarian hyperstimulation syndrome
Palant Cleft Palate Syndrome
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa
Pallister Killian Syndrome
Pallister-Hall syndrome +
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
patellofemoral pain syndrome
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome +
Pavone Fiumara Rizzo Syndrome
periodic limb movement disorder
Peripheral Cone Dystrophy
Perniola Krajewska Carnevale Syndrome
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
Pigmentary Retinopathy and Sensorineural Deafness
PILAROWSKI-BJORNSSON SYNDROME
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
Polyosteolysis-Hyperostosis Syndrome
popliteal pterygium syndrome +
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
postcholecystectomy syndrome
Posterior Column Ataxia with Retinitis Pigmentosa
Posterior Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prader-Willi-Like Syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preeyasombat Varavithya Syndrome
Premature Ovarian Failure 10
Presumed Ocular Histoplasmosis Syndrome
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +
Progressive External Ophthalmoplegia with Myoclonus
Propofol Infusion Syndrome
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
renal hypomagnesemia 5 with ocular involvement
Renal Nutcracker Syndrome
Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3B
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinitis Pigmentosa 7 with Bull'S-Eye Maculopathy
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Retinohepatoendocrinologic Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sabinas Brittle Hair Syndrome
Sackey Sakati Aur Syndrome
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller Syndrome
Say Field Coldwell syndrome
Scalp Ear Nipple Syndrome
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel-Giedion Syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Schopf-Schulz-Passarge Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schweitzer Kemink Graham Syndrome
seasonal affective disorder
Second Metatarsal-Metacarpal Syndrome
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
Seres-Santamaria Arimany Muniz Syndrome
Sertoli cell-only syndrome +
Sessile Serrated Polyposis Cancer Syndrome
severe acute respiratory syndrome
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Sharma Kapoor Ramji Syndrome
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Short Stature-Obesity Syndrome
short-rib thoracic dysplasia 9 with or without polydactyly
shoulder impingement syndrome
Shprintzen Omphalocele Syndrome
Shwachman-Diamond syndrome
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simian Acquired Immunodeficiency Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skin Fragility-Woolly Hair Syndrome
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
Spastic Paraplegia and Evans Syndrome
Spastic Paraplegia with Kallmann Syndrome
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
spondylocarpotarsal synostosis syndrome
spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spranger Schinzel Myers Syndrome
STANKIEWICZ-ISIDOR SYNDROME
Stern Lubinsky Durrie Syndrome
Stocco dos Santos Syndrome
Stoelinga de Koomen Davis Syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Structural Heart Defects and Renal Anomalies Syndrome
subclavian steal syndrome
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Systemic Inflammatory Response Syndrome +
systemic primary carnitine deficiency disease
Takenouchi-Kosaki Syndrome
Tapetoretinal Degeneration with Ataxia
TATTON-BROWN-RAHMAN SYNDROME
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thrombocytopenia Absent Ulnar Syndrome
Thyrocerebral-Retinal Syndrome
thyroid hormone resistance syndrome +
Tn polyagglutination syndrome
Tollner Horst Manzke Syndrome
Tranebjaerg Svejgaard syndrome
Treft Sanborn Carey Syndrome
Tricho-Dento-Osseous Syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trichothiodystrophy Syndromes +
Trisomy 22 Mosaicism Syndrome
Trueb Burg Bottani Syndrome
Tumor Predisposition Syndrome
Tunglang Savage Bellman Syndrome
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Nerve Compression Syndromes +
Uncombable Hair Syndrome +
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uruguay Faciocardiomusculoskeletal Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral artery insufficiency +
Viljoen Kallis Voges Syndrome
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Wernicke-Korsakoff syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren Region Duplication Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati Syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
Zunich Neuroectodermal Syndrome
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