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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
acrocardiofacial syndrome
Acromegaloid Facial Appearance Syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of corpus callosum, cardiac, ocular, and genital 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 impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Aloi Tomasini Isaia Syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha thalassemia-X-linked intellectual disability syndrome
Alves Castelo dos Santos Syndrome
Ameloonychohypohidrotic Syndrome
Amish Lethal Microcephaly
androgen insensitivity syndrome +
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior spinal artery syndrome
antiphospholipid syndrome +
Aortico-Ventricular Tunnel
Aphalangia Syndactyly Microcephaly
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
Arnold Stickler Bourne Syndrome
arrhythmogenic right ventricular cardiomyopathy +
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Asparagine Synthetase Deficiency
asphyxiating thoracic dystrophy +
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
Ataxia-Microcephaly-Cataract Syndrome
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant microcephaly +
autosomal recessive cutis laxa type III +
Axenfeld-Rieger syndrome +
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beare-Stevenson cutis gyrata 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
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral perisylvian polymicrogyria +
Bird Headed Dwarfism Montreal Type
Birk-Landau-Perez Syndrome
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
brachycephaly, trichomegaly, and developmental delay
Brachydactyly, Type A2, With Microcephaly
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Brain-Lung-Thyroid Syndrome
Branchial Arch Syndrome X-Linked
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type +
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 Valvular Dysplasia +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
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, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral creatine deficiency syndrome +
cerebrocostomandibular syndrome
CEREBROFACIAL ARTERIOVENOUS METAMERIC 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 +
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
Chromosome 4, 4q Terminal Deletion Syndrome
Chromosome 6 Ring Syndrome
chromosome 6pter-p24 deletion 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
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate with Ankyloglossia
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Deafness, and Oligodontia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleft palate-lateral synechia syndrome
Cleidorhizomelic Syndrome
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Coloboma of Macula and Skeletal Anomalies
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
complex regional pain syndrome +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Bone Marrow Failure Syndromes +
congenital central hypoventilation syndrome +
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Congenital Pain Insensitivity +
Conotruncal Cardiac Defects
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Corneal Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary Vessel Anomalies +
Coronary-Subclavian Steal Syndrome
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
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
Cyclic Vomiting Syndrome +
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
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
deafness, dystonia, and cerebral hypomyelination
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia 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
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
dextro-looped transposition of the great arteries +
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dialysis disequilibrium syndrome
Diamond-Blackfan Anemia with Microtia and Cleft Palate
Dianzani Autoimmune Lymphoproliferative Syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
diffuse infiltrative lymphocytosis syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 3
distal arthrogryposis type 7
Distal Trisomy 10q Syndrome
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
dominant optic atrophy plus syndrome
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
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
encephalopathy due to defective mitochondrial and peroxisomal fission 1
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Failed Back Surgery Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
Familial Antiphospholipid Syndrome
Familial Hyperchylomicronemia Syndrome
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia
Fara Chlupackova Syndrome
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome +
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fetal encasement 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
Fraser Jequier Chen Syndrome
Freeman-Sheldon 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
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Ghose Sachdev Kumar Syndrome
Gilles de la Tourette syndrome +
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
glucose transporter type 1 deficiency syndrome +
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Hormone Insensitivity with Immune Dysregulation +
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
Hay Wells Syndrome Recessive Type
HEART AND BRAIN MALFORMATION SYNDROME
Heart Defects Limb Shortening
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Heart-Hand Syndrome, Slovenian Type
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
Hengel-Maroofian-Schols syndrome
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome +
hereditary fructose intolerance syndrome
Hereditary Neoplastic Syndromes +
hereditary spastic paraplegia 11
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
high myopia-sensorineural deafness syndrome
high pressure neurological syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
hypereosinophilic syndrome +
hyperferritinemia-cataract syndrome
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
Hypodontia Oligodontia with Orofacial Cleft
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism 23 with or without anosmia
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic or aplastic tibia with polydactyly
hypoplastic right 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
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
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 cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile liver failure syndrome +
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
Isolated Noncompaction of the Ventricular Myocardium +
Isotretinoin Embryopathy Like Syndrome
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Johnston-Aarons-Schelley Syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
Jung Wolff Back Stahl Syndrome
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kallmann Syndrome 2 with Cleft Lip or Palate
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
Kennerknecht Sorgo Oberhoffer 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
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Lethal Faciocardiomelic Dysplasia
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
LONG-OLSEN-DISTELMAIER SYNDROME
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, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
macrocephaly-autism syndrome
Macrophage Activation Syndrome
Macrosomia with Lethal Microphthalmia
Malabsorption Syndromes +
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Marfanoid Hypermobility Syndrome
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
Mayer-Rokitansky-Kuster-Hauser 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 +
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Membranous Subaortic Stenosis
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Merlob Grunebaum Reisner Syndrome
Mesomelia-Synostoses Syndrome
Methionine Malabsorption Syndrome
Mexican Cardiomelic Dysplasia
Meyenburg-Altherr-Uehlinger Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microphthalmia and Mental Deficiency
Microtia, Hearing Impairment, and Cleft Palate
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miles-Carpenter syndrome +
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
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 +
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Mousa Al din Al Nassar Syndrome
Mucopolysaccharidosis-Plus Syndrome
Mulchandani-Bhoj-Conlin syndrome
Muller Barth Menger Syndrome
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple benign circumferential skin creases on limbs +
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple epiphyseal dysplasia with myopia and deafness
Multiple Epiphyseal Dysplasia with Robin Phenotype
multiple mitochondrial dysfunctions syndrome +
multiple synostoses syndrome +
multiple system atrophy +
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
myelodysplastic syndrome +
myeloid leukemia associated with Down Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
myofascial pain syndrome +
Myopathy, Cataract, Hypogonadism Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
neonatal abstinence syndrome
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
nerve compression syndrome +
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with hypotonia and speech delay
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
Neurofaciodigitorenal Syndrome
neurooculocardiogenitourinary syndrome
Neutropenic Enterocolitis
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome +
Nijmegen Breakage Syndrome-Like Disorder
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Nonkeratan-Sulfate-Excreting Morquio Syndrome
Noonan syndrome with multiple lentigines +
O'Donnell-Luria-Rodan Syndrome
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
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
Omphalocele, Cleft Palate Syndrome Lethal
Opitz Reynolds Fitzgerald syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
ornithine translocase deficiency
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteootohepatoenteric Syndrome
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
ovarian hyperstimulation syndrome
overactive bladder syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma 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
patent ductus arteriosus +
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome
Pavone Fiumara Rizzo Syndrome
periodic limb movement disorder
Periventricular Nodular Heterotopia 7
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
Pilarowski-Bjornsson Syndrome
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
plasminogen deficiency type I
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
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 Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preeyasombat Varavithya Syndrome
Presumed Ocular Histoplasmosis Syndrome
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Propofol Infusion Syndrome
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome +
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
Rajab Interstitial Lung Disease with Brain Calcifications +
Rajab Interstitial Lung Disease with Brain Calcifications 1
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 Nutcracker Syndrome
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Retinohepatoendocrinologic Syndrome
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
Right Ventricle Hypoplasia
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Robinson Miller Bensimon Syndrome
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
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandestig-Stefanova syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
Say Field Coldwell Syndrome
Say-Barber-Miller Syndrome
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
Sd(a) POLYAGGLUTINATION SYNDROME
seasonal affective disorder
Second Metatarsal-Metacarpal Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selective Tooth Agenesis with Orofacial Cleft
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 Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Sharma Kapoor Ramji Syndrome
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Short Stature-Obesity Syndrome
shoulder impingement syndrome
Shprintzen Omphalocele 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
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
Spastic Paraplegia and Evans Syndrome
spastic paraplegia with deafness
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
split hand-foot malformation 3
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Spranger Schinzel Myers Syndrome
Stankiewicz-Isidor Syndrome
Stern Lubinsky Durrie Syndrome
Stocco Dos Santos type X-linked intellectual disability
Stoelinga-de Koomen-Davis Syndrome
Stolerman neurodevelopmental syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Structural Heart Defects and Renal Anomalies Syndrome
Stuve-Wiedemann Syndrome +
subclavian steal syndrome
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Systemic Inflammatory Response Syndrome +
Takenouchi-Kosaki Syndrome
TANGO2-related metabolic encephalopathy and arrythmias
Tatton-Brown-Rahman syndrome
Teebi hypertelorism 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
terminal osseous dysplasia
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Testicular Anomalies with or without Congenital Heart Disease
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
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Total Anonychia with Microcephaly
Tranebjaerg Svejgaard syndrome
Treacher Collins syndrome +
Treft Sanborn Carey Syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Trueb Burg Bottani Syndrome
Tumor Predisposition Syndrome +
Tunglang Savage Bellman Syndrome
Ulna Metaphyseal Dysplasia Syndrome
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 den Ende-Gupta syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Vasquez Hurst Sotos Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Velofacioskeletal Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
ventriculomegaly - cystic kidney disease
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency +
vertebral hypersegmentation and orofacial anomalies
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
Weyers Ulnar Ray/Oligodactyly Syndrome
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Wolff-Parkinson-White syndrome
Woodhouse-Sakati syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
X-linked cardiac valvular dysplasia
X-linked cleft palate with or without ankyloglossia
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yoon-Bellen neurodevelopmental syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
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