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Syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

25 trials tagged with this condition →

Neoplastic syndrome 1 trial · 1,432 incl. sub-types Sub-types →
Obstructive sleep apnea syndrome 519 trials · 520 incl. sub-types Sub-types →
Acute respiratory distress syndrome 298 trials · 417 incl. sub-types Sub-types →
Abdominal obesity-metabolic syndrome 302 trials · 359 incl. sub-types Sub-types →
Acute coronary syndrome 298 trials
Fibromyalgia 281 trials
Dry eye syndrome 254 trials · 255 incl. sub-types Sub-types →
Toxic shock syndrome 225 trials Sub-types →
Irritable bowel syndrome 222 trials
Autoinflammatory syndrome 21 trials · 207 incl. sub-types Sub-types →
Polycystic ovary syndrome 201 trials
Psoriatic arthritis 188 trials · 201 incl. sub-types Sub-types →
Sjogren syndrome 167 trials
Temporomandibular joint dysfunction syndrome 85 trials
Progressive supranuclear palsy 74 trials · 78 incl. sub-types Sub-types →
Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
Syndromic dyslipidemia 0 trials · 73 incl. sub-types Sub-types →
Nephrotic syndrome 47 trials · 71 incl. sub-types Sub-types →
Cushing syndrome 42 trials · 66 incl. sub-types Sub-types →
Myotonic syndrome 11 trials · 61 incl. sub-types Sub-types →
Antiphospholipid syndrome 58 trials · 59 incl. sub-types Sub-types →
Substance withdrawal syndrome 30 trials · 59 incl. sub-types Sub-types →
Hemophagocytic syndrome 38 trials · 58 incl. sub-types Sub-types →
Multiple organ dysfunction syndrome 50 trials
Hypereosinophilic syndrome 19 trials · 49 incl. sub-types Sub-types →
Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types Sub-types →
Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types Sub-types →
Alpha 1-antitrypsin deficiency 44 trials
Tourette syndrome 41 trials
Guillain-Barre syndrome 23 trials · 39 incl. sub-types Sub-types →
Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
Behcet disease 38 trials
Syndromic intellectual disability 2 trials · 38 incl. sub-types Sub-types →
Syndromic agammaglobulinemia 7 trials · 37 incl. sub-types Sub-types →
X-linked ichthyosis syndrome 0 trials · 37 incl. sub-types Sub-types →
Fragile X syndrome 34 trials Sub-types →
Primary ciliary dyskinesia 34 trials Sub-types →
Dialysis disequilibrium syndrome 33 trials
Eosinophilic granulomatosis with polyangiitis 33 trials
Prader-Willi syndrome 32 trials Sub-types →
Exfoliation syndrome 32 trials
Rett syndrome 31 trials
Complex regional pain syndrome type 1 31 trials
Syndromic congenital heart disease 0 trials · 31 incl. sub-types Sub-types →
Acute chest syndrome 30 trials
Polymyalgia rheumatica 30 trials
Turner syndrome 29 trials Sub-types →
Long QT syndrome 22 trials · 29 incl. sub-types Sub-types →
Corticobasal degeneration disorder 28 trials
Familial developmental dysphasia 28 trials
Takayasu arteritis 27 trials
Posterior leukoencephalopathy syndrome 27 trials
Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types Sub-types →
Mucopolysaccharidosis type 2 25 trials Sub-types →
Piriformis syndrome 25 trials
Post-cardiac arrest syndrome 25 trials
Noonan syndrome 22 trials · 25 incl. sub-types Sub-types →
Central sleep apnea syndrome 21 trials · 23 incl. sub-types Sub-types →
Sick sinus syndrome 22 trials Sub-types →
Syndromic craniosynostosis 1 trial · 22 incl. sub-types Sub-types →
Marfan syndrome 21 trials Sub-types →
Cardiovascular-kidney-metabolic syndrome 21 trials
Persian gulf syndrome 20 trials
Paraneoplastic syndrome 1 trial · 20 incl. sub-types Sub-types →
Angelman syndrome 19 trials Sub-types →
Evans syndrome 19 trials
Atypical hemolytic-uremic syndrome 19 trials Sub-types →
Dumping syndrome 19 trials
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types Sub-types →
Infantile spasms 8 trials · 19 incl. sub-types Sub-types →
Williams syndrome 18 trials
Cardio-renal syndrome 18 trials
Complex regional pain syndrome type 2 18 trials
Alport syndrome 17 trials · 18 incl. sub-types Sub-types →
Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types Sub-types →
Fetal alcohol syndrome 17 trials
Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types Sub-types →
Usher syndrome 14 trials · 16 incl. sub-types Sub-types →
Alagille syndrome 15 trials Sub-types →
Netherton syndrome 15 trials
Arts syndrome 14 trials
Erdheim-Chester disease 14 trials
Compartment syndrome 14 trials Sub-types →
Fetal cytomegalovirus syndrome 14 trials
MELAS syndrome 13 trials · 14 incl. sub-types Sub-types →
HELLP syndrome 13 trials
Hepatorenal syndrome 13 trials
Familial chylomicronemia syndrome 11 trials · 13 incl. sub-types Sub-types →
Stiff-person syndrome 12 trials Sub-types →
Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types Sub-types →
Simpson-Golabi-Behmel syndrome 11 trials Sub-types →
Thoracic outlet syndrome 11 trials Sub-types →
Autoimmune polyendocrinopathy 3 trials · 11 incl. sub-types Sub-types →
Syndromic microphthalmia 0 trials · 11 incl. sub-types Sub-types →
Brugada syndrome 10 trials Sub-types →
Marinesco-Sjogren syndrome 10 trials
Phelan-McDermid syndrome 10 trials Sub-types →
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
Post-infectious syndrome 5 trials · 10 incl. sub-types Sub-types →
Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types Sub-types →
Stevens-Johnson syndrome 9 trials
Burning mouth syndrome 9 trials Sub-types →
Calciphylaxis 9 trials Sub-types →
Hand-foot syndrome 9 trials
Mayer-Rokitansky-Kuster-Hauser syndrome 8 trials · 9 incl. sub-types Sub-types →
Sickle cell-beta-thalassemia disease syndrome 5 trials · 9 incl. sub-types Sub-types →
Leriche syndrome 8 trials
Breast implant illness 8 trials
Developmental and/or epileptic encephalopathy with spike-wave activation in sleep 8 trials Sub-types →
Mucopolysaccharidosis type 6 8 trials Sub-types →
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
IRF6-related condition 0 trials · 8 incl. sub-types Sub-types →
Silver-Russell syndrome 7 trials Sub-types →
Wolfram syndrome 7 trials Sub-types →
Cystinuria 7 trials Sub-types →
Miliaria 7 trials Sub-types →
Sickle cell-hemoglobin c disease syndrome 7 trials
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types Sub-types →
Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types Sub-types →
Duane retraction syndrome 6 trials Sub-types →
Hurler syndrome 6 trials
Loeys-Dietz syndrome 6 trials Sub-types →
Angioosteohypertrophic syndrome 6 trials
Carcinoid syndrome 6 trials Sub-types →
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
Congenital myasthenic syndrome 6 trials Sub-types →
Tethered spinal cord syndrome 6 trials
DICER1-related tumor predisposition 1 trial · 6 incl. sub-types Sub-types →
Neonatal aspiration syndrome 1 trial · 6 incl. sub-types Sub-types →
Growth hormone insensitivity syndrome 0 trials · 6 incl. sub-types Sub-types →
CLOVES syndrome 5 trials
Eisenmenger syndrome 5 trials
IMAGe syndrome 5 trials
Kearns-Sayre syndrome 5 trials
MERRF syndrome 5 trials
McCune-Albright syndrome 5 trials
Menkes disease 5 trials
Shwachman-Diamond syndrome 5 trials Sub-types →
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials Sub-types →
Craniofacial microsomia 5 trials Sub-types →
Drug rash with eosinophilia and systemic symptoms 5 trials
Pelvis syndrome 5 trials
Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
Boerhaave syndrome 4 trials
CHARGE syndrome 4 trials Sub-types →
Fanconi renotubular syndrome 4 trials Sub-types →
SUNCT syndrome 4 trials
Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
Nephronophthisis 1 4 trials
Trisomy 13 4 trials Sub-types →
Stickler syndrome 2 trials · 4 incl. sub-types Sub-types →
Kenny-Caffey syndrome 0 trials · 4 incl. sub-types Sub-types →
Hypoplastic right heart syndrome 0 trials · 4 incl. sub-types Sub-types →
Barre-Lieou syndrome 3 trials
Hutchinson-Gilford progeria syndrome 3 trials
Kallmann syndrome 3 trials Sub-types →
Noonan syndrome with multiple lentigines 3 trials Sub-types →
Pearson syndrome 3 trials
Pitt-Hopkins syndrome 3 trials
Cannabinoid hyperemesis syndrome 3 trials
Facial hemiatrophy 3 trials
Hereditary alpha tryptasemia syndrome 3 trials
Mitochondrial DNA depletion syndrome 4a 3 trials
Oculocerebrorenal syndrome 3 trials
Ornithine translocase deficiency 3 trials
Triple-A syndrome 3 trials
Trisomy 18 3 trials Sub-types →
Trisomy X 3 trials
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types Sub-types →
Iridocorneal endothelial syndrome 1 trial · 3 incl. sub-types Sub-types →
Aicardi syndrome 2 trials
Birt-Hogg-Dube syndrome 2 trials Sub-types →
Charles bonnet syndrome 2 trials
Cri-du-chat syndrome 2 trials
Hurler-Scheie syndrome 2 trials
Joubert syndrome 2 trials Sub-types →
Kabuki syndrome 2 trials Sub-types →
Mobius syndrome 2 trials Sub-types →
Poland syndrome 2 trials
Susac syndrome 2 trials
Werner syndrome 2 trials
Acrocallosal syndrome 2 trials
Cauda equina syndrome 2 trials Sub-types →
Celiac trunk compression syndrome 2 trials
Congenital cardiovascular shunt 2 trials
Craniofacial and skeletal defects 2 trials
Dilated cardiomyopathy 1A 2 trials
Engraftment syndrome 2 trials
Enlarged vestibular aqueduct syndrome 2 trials
Gas bloat syndrome 2 trials
Hantavirus pulmonary syndrome 2 trials
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
Jaw-winking syndrome 2 trials Sub-types →
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 trials
Nail-patella syndrome 2 trials
Polydactyly-myopia syndrome 2 trials
Retrograde cricopharyngeus dysfunction 2 trials
Superior mesenteric artery syndrome 2 trials
Superior vena cava syndrome 2 trials
Sweet syndrome 2 trials
Vertebral artery insufficiency 2 trials
Xeroderma pigmentosum-Cockayne syndrome complex 1 trial · 2 incl. sub-types Sub-types →
Pallister-Hall syndrome 0 trials · 2 incl. sub-types Sub-types →
Disappearing bone disease 0 trials · 2 incl. sub-types Sub-types →
Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types Sub-types →
Aagenaes syndrome 1 trial
Adams-Stokes syndrome 1 trial
Alstrom syndrome 1 trial
Axenfeld-Rieger syndrome 1 trial Sub-types →
BNAR syndrome 1 trial
Capgras syndrome 1 trial
Caroli syndrome 1 trial
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
Coffin-Siris syndrome 1 trial Sub-types →
Currarino triad 1 trial
DNA ligase IV deficiency 1 trial
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial Sub-types →
EEC syndrome 1 trial Sub-types →
Freeman-Sheldon syndrome 1 trial Sub-types →
Fryns syndrome 1 trial
German syndrome 1 trial
Holmes-Adie syndrome 1 trial
Joubert syndrome with oculorenal defect 1 trial Sub-types →
Lesch-Nyhan syndrome 1 trial Sub-types →
Liddle syndrome 1 trial Sub-types →
MPI-congenital disorder of glycosylation 1 trial
Meier-Gorlin syndrome 1 trial Sub-types →
Potocki-Lupski syndrome 1 trial
Potter sequence 1 trial
RHYNS syndrome 1 trial
RNU4ATAC spectrum disorder 1 trial Sub-types →
Reunion island Larsen syndrome 1 trial
Scheie syndrome 1 trial
Sotos syndrome 1 trial
Tolosa-Hunt syndrome 1 trial
Waardenburg syndrome 1 trial Sub-types →
Wernicke-Korsakoff syndrome 1 trial Sub-types →
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
Acute radiation syndrome 1 trial
Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial Sub-types →
Atlanto-axial fusion 1 trial
Bidirectional tachycardia 1 trial
Capillary leak syndrome 1 trial
Cleidocranial dysplasia 1 1 trial
Congenital amputation 1 trial
Congenital insensitivity to pain syndrome, Marsili type 1 trial
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
Craniofrontonasal syndrome 1 trial
Deafness-infertility syndrome 1 trial
Deafness-lymphedema-leukemia syndrome 1 trial
Epidermal nevus syndrome 1 trial
Epilepsy with myoclonic atonic seizures 1 trial
Gastrointestinal defects and immunodeficiency syndrome 1 1 trial
Human HOXA1 syndromes 1 trial Sub-types →
Hypoparathyroidism-deafness-renal disease syndrome 1 trial
Ichthyosis prematurity syndrome 1 trial
Levator syndrome 1 trial
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
Metaphyseal chondrodysplasia, Jansen type 1 trial
Microtia with meatal atresia and conductive deafness 1 trial
Monoclonal mast cell activation syndrome 1 trial
Neuroleptic malignant syndrome 1 trial
Orofaciodigital syndrome I 1 trial
Palindromic rheumatism 1 trial
Pituitary stalk interruption syndrome 1 trial
Postaxial acrofacial dysostosis 1 trial
Prune belly syndrome 1 trial
Septooptic dysplasia 1 trial Sub-types →
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
Subclavian steal syndrome 1 trial
Tarsal tunnel syndrome 1 trial
Thalidomide embryopathy 1 trial
Thrombocytopenia-absent radius syndrome 1 trial
Visceral heterotaxy 1 trial Sub-types →
Meckel syndrome 0 trials · 1 incl. sub-types Sub-types →
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types Sub-types →
Seckel syndrome 0 trials · 1 incl. sub-types Sub-types →
Microcephalic osteodysplastic primordial dwarfism types I and III 0 trials · 1 incl. sub-types Sub-types →
3-M syndrome 0 trials Sub-types →
46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
48,XXXY syndrome 0 trials
48,XXYY syndrome 0 trials
48,XYYY syndrome 0 trials
49,XXXXY syndrome 0 trials
6q terminal deletion syndrome 0 trials
8p23.1 microdeletion syndrome 0 trials
AIDS dysmorphic syndrome 0 trials
ANE syndrome 0 trials
Abruzzo-Erickson syndrome 0 trials
Achard syndrome 0 trials
Achard-Thiers syndrome 0 trials
Achenbach syndrome 0 trials
Acrootoocular syndrome 0 trials
Ahumada Del Castillo syndrome 0 trials
Aksu von Stockhausen syndrome 0 trials
Al-Gazali syndrome 0 trials
Alfadhel syndrome 0 trials
Alice in Wonderland syndrome 0 trials
Alkuraya-Kucinskas syndrome 0 trials
Aloi Tomasini Isaia syndrome 0 trials
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 0 trials Sub-types →
Alsahan-Harris syndrome 0 trials
Apert-like polydactyly syndrome 0 trials
Armfield syndrome 0 trials
Arnold stickler bourne syndrome 0 trials
Atkin-Flaitz syndrome 0 trials
Ayme-Gripp syndrome 0 trials
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
BD syndrome 0 trials
BRESEK syndrome 0 trials
Bamforth-Lazarus syndrome 0 trials
Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
Barnicoat Baraitser syndrome 0 trials
Bartter syndrome 0 trials Sub-types →
Basedow's coma 0 trials
Basilicata-Akhtar syndrome 0 trials
Beardwell syndrome 0 trials
Bencze syndrome 0 trials
Bernard-Soulier syndrome 0 trials Sub-types →
Bloom syndrome 0 trials
Bonnemann-Meinecke-Reich syndrome 0 trials
Bonnevie-Ullrich syndrome 0 trials
Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
Brown-Sequard syndrome 0 trials
Bruck syndrome 0 trials Sub-types →
Brunsting-Perry syndrome 0 trials
Buschke-Ollendorff syndrome 0 trials
CADDS 0 trials
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
CEDNIK syndrome 0 trials
CODAS syndrome 0 trials
COG1-congenital disorder of glycosylation 0 trials
COG5-congenital disorder of glycosylation 0 trials
CREST syndrome 0 trials
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials Sub-types →
Camurati-Engelmann disease 0 trials Sub-types →
Cantu Sanchez-Corona Fragoso syndrome 0 trials
Cantu Sanchez-Corona Garcia-Cruz syndrome 0 trials
Cantu Sanchez-Corona Hernandez syndrome 0 trials
Carnevale hernandez castillo syndrome 0 trials
Cartwright Nelson Fryns syndrome 0 trials
Cerebrorenodigital syndrome 0 trials
Christian Demyer Franken syndrome 0 trials
Christian Johnson angenieta syndrome 0 trials
Christianson syndrome 0 trials
Cohen Lockood Wyborney syndrome 0 trials
Cole-Carpenter syndrome 0 trials Sub-types →
Collins-Sakati syndrome 0 trials
Colver Steer Godman syndrome 0 trials
Combarros Calleja Leno syndrome 0 trials
Cormier Rustin Munnich syndrome 0 trials
Cortes Lacassie syndrome 0 trials
Cramp-fasciculation syndrome 0 trials
Crandall syndrome 0 trials
Crigler-Najjar syndrome 0 trials Sub-types →
Czeizel-Losonci syndrome 0 trials
DK1-congenital disorder of glycosylation 0 trials
DOORS syndrome 0 trials
Davenport-Donlan syndrome 0 trials
Davis Lafer syndrome 0 trials
Dennis-Fairhurst-Moore syndrome 0 trials
Diamond-Blackfan anemia 2 0 trials
Donohue syndrome 0 trials
Drachtman Weinblatt Sitarz syndrome 0 trials
Duane anomaly-myopathy-scoliosis syndrome 0 trials
Dubin-Johnson syndrome 0 trials
Duker-Weiss-Siber syndrome 0 trials
Dursun syndrome 0 trials
Dursun-Ozgul neurodevelopmental syndrome 0 trials
Dyggve-Melchior-Clausen disease 0 trials Sub-types →
EDICT syndrome 0 trials
Eagle syndrome 0 trials
Elliott ludman Teebi syndrome 0 trials
Elsahy-Waters syndrome 0 trials
Engelhard Yatziv syndrome 0 trials
FG syndrome 0 trials Sub-types →
FICUS syndrome 0 trials
FRAXF syndrome 0 trials
Fanconi-like syndrome 0 trials Sub-types →
Faye-Petersen-Ward-Carey syndrome 0 trials
Feingold syndrome 0 trials Sub-types →
Feingold trainer syndrome 0 trials
Felty syndrome 0 trials
Finnish type amyloidosis 0 trials
Fitz-Hugh-Curtis syndrome 0 trials
Fliedner-Zweier syndrome 0 trials
Fontaine farriaux blanckaert syndrome 0 trials
Frank-Ter Haar syndrome 0 trials
Fraser Jequier Chen syndrome 0 trials
Fraser syndrome 0 trials Sub-types →
Frasier syndrome 0 trials
Freiberg disease 0 trials
Friedman Goodman syndrome 0 trials
Froelich syndrome 0 trials
Fryns Fabry Remans syndrome 0 trials
Fryns Smeets Thiry syndrome 0 trials
Fuchs atrophia gyrata chorioideae et retinae 0 trials
Fuchs heterochromic iridocyclitis 0 trials
Fukuda-Miyanomae-Nakata syndrome 0 trials
Fuqua Berkovitz syndrome 0 trials
GMS syndrome 0 trials
Galloway-Mowat syndrome 0 trials Sub-types →
Gamstorp-Wohlfart syndrome 0 trials
Garret-Tripp syndrome 0 trials
Gaucher ichthyosis restrictive dermopathy 0 trials
Ghose-Sachdev-Kumar syndrome 0 trials
Gilbert syndrome 0 trials
Gitelman syndrome 0 trials
Goldberg-Shprintzen syndrome 0 trials
Greig cephalopolysyndactyly syndrome 0 trials Sub-types →
Grisel syndrome 0 trials
Grubben-de Cock-Borghgraef syndrome 0 trials
Guillouet-Gordon syndrome 0 trials
Guttmacher syndrome 0 trials
HEC syndrome 0 trials
Harel-Tora neurodevelopmental syndrome 0 trials
Hartsfield-Bixler-Demyer syndrome 0 trials
Hennekam syndrome 0 trials Sub-types →
Hernández-Aguirre Negrete syndrome 0 trials
Hirschsprung disease-ganglioneuroblastoma syndrome 0 trials
Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 0 trials
Hirschsprung disease-type D brachydactyly syndrome 0 trials
Ho-Kaufman-McAlister syndrome 0 trials
Holzgreve-Wagner-Rehder syndrome 0 trials
Houge-Janssens syndrome 0 trials Sub-types →
Hoxha-Aliu syndrome 0 trials
Hughes-Stovin syndrome 0 trials
ICHAD syndrome 0 trials
IFAP syndrome 0 trials Sub-types →
Imerslund-Grasbeck syndrome 0 trials Sub-types →
Jaberi-Elahi syndrome 0 trials
Jacobsen syndrome 0 trials
Jaffer-Beighton syndrome 0 trials
Joubert syndrome with ocular defect 0 trials Sub-types →
Judge Misch wright syndrome 0 trials
KAT6B-related multiple congenital anomalies syndrome 0 trials
KINSSHIP syndrome 0 trials
KLHL7-related Bohring-Opitz-like syndrome 0 trials
KLHL7-related cold-induced sweating-like syndrome 0 trials
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
Kariminejad neurodevelopmental syndrome 0 trials
Kashani-Strom-Utley syndrome 0 trials
Kasznica-Carlson-Coppedge syndrome 0 trials
Katsantoni-Papadakou-Lagoyanni syndrome 0 trials
Kleine-Levin syndrome 0 trials
Kluver-Bucy syndrome 0 trials
Kocher-debre-Semelaigne syndrome 0 trials
Koone-Rizzo-Elias syndrome 0 trials
Kousseff syndrome 0 trials
Kozlowski Brown Hardwick syndrome 0 trials
Kozlowski Ouvrier syndrome 0 trials
Kozlowski Rafinski Klicharska syndrome 0 trials
Kozlowski Warren Fisher syndrome 0 trials
Krauss Herman Holmes syndrome 0 trials
Krieble Bixler syndrome 0 trials
Kuster Majewski Hammerstein syndrome 0 trials
Kuster syndrome 0 trials
Landau-Kleffner syndrome 0 trials
Landy-Donnai syndrome 0 trials
Laugier-Hunziker syndrome 0 trials
Laurence-Moon syndrome 0 trials
Laurence-Prosser-Rocker syndrome 0 trials
Leigh syndrome, mitochondrial 0 trials
Lenz-Majewski hyperostotic dwarfism 0 trials
Li-Takada-Miyake syndrome 0 trials
Liberfarb syndrome 0 trials
Long-Olsen-Distelmaier syndrome 0 trials
Lopes-Maciel-Rodan syndrome 0 trials
Lowe-Kohn-Cohen syndrome 0 trials
Lown-Ganong-Levine syndrome 0 trials
Lui-Jee-Baron syndrome 0 trials
Luscan-Lumish syndrome 0 trials
MEDNIK syndrome 0 trials
MIRAGE syndrome 0 trials
MYT1L-related developmental delay-intellectual disability-obesity syndrome 0 trials
Mallory-Weiss syndrome 0 trials
Marinesco-Sjogren-like syndrome 0 trials
Marshall-Smith syndrome 0 trials
Mauriac syndrome 0 trials
Meacham syndrome 0 trials
Meester-Loeys syndrome 0 trials
Melhem-Fahl syndrome 0 trials
Melkersson-Rosenthal syndrome 0 trials
Mietens syndrome 0 trials
Mikati-Najjar-Sahli syndrome 0 trials
Miller Fisher syndrome 0 trials
Miller-Dieker lissencephaly syndrome 0 trials
Milner-Khallouf-Gibson syndrome 0 trials
Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
Muggenthaler-Chowdhury-Chioza syndrome 0 trials
NDUFB11-related disorders 0 trials Sub-types →
Nager acrofacial dysostosis 0 trials
Nathalie syndrome 0 trials
Neu-Laxova syndrome 0 trials Sub-types →
Norman-Roberts syndrome 0 trials
Opitz G/BBB syndrome 0 trials Sub-types →
PAGOD syndrome 0 trials
PCWH syndrome 0 trials
PEHO syndrome 0 trials
PMP22-RAI1 contiguous gene duplication syndrome 0 trials
Pallister-W syndrome 0 trials
Pan-Chung-Bellen syndrome 0 trials
Parana hard-skin syndrome 0 trials
Parinaud syndrome 0 trials
Pavone Fiumara Rizzo syndrome 0 trials
Pendred syndrome 0 trials
Perlman syndrome 0 trials
Perry syndrome 0 trials
Peters plus syndrome 0 trials
Pfeiffer Tietze Welte syndrome 0 trials
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 0 trials
Plummer-Vinson syndrome 0 trials
Potocki-Shaffer syndrome 0 trials
Primrose syndrome 0 trials
Qazi Markouizos syndrome 0 trials
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 0 trials Sub-types →
Rabson-Mendenhall syndrome 0 trials
Rahman syndrome 0 trials
Ramond-Elliott neurodevelopmental syndrome 0 trials
Reye syndrome 0 trials
Roberts-SC phocomelia syndrome 0 trials
Robinow syndrome 0 trials Sub-types →
Roussy-Levy syndrome 0 trials
Rubinstein Taybi like syndrome 0 trials
Ruvalcaba syndrome 0 trials
Ruzicka-Goerz-Anton syndrome 0 trials
SCARF syndrome 0 trials
SHORT syndrome 0 trials
STAD syndrome 0 trials
Saal-Bulas syndrome 0 trials
Sackey-Sakati-Aur syndrome 0 trials
Sammartino-Decreccio syndrome 0 trials
Samson-Gardner syndrome 0 trials
Samson-Viljoen syndrome 0 trials
Sanderson-Fraser syndrome 0 trials
Sandhaus-Ben-Ami syndrome 0 trials
Sandifer syndrome 0 trials
Saul-Wilkes-Stevenson syndrome 0 trials
Say-Barber-Miller syndrome 0 trials
Schilbach-Rott syndrome 0 trials
Schlegelberger-Grote syndrome 0 trials
Schmid metaphyseal chondrodysplasia 0 trials
Schrander-stumpel-Theunissen-Hulsmans syndrome 0 trials
Schwartz-Cohen-addad-Lambert syndrome 0 trials
Schwartz-Jampel syndrome 0 trials Sub-types →
Seckel like syndrome majoor-krakauer type 0 trials
Sheehan syndrome 0 trials
Sillence syndrome 0 trials
Skraban-Deardorff syndrome 0 trials
Slti-Salem syndrome 0 trials
Spigelian hernia-cryptorchidism syndrome 0 trials
Stankiewicz-Isidor syndrome 0 trials
Sweeney-Cox syndrome 0 trials
Tan-Almurshedi syndrome 0 trials
Tayoun-Maawali syndrome 0 trials
Tietze syndrome 0 trials
Townes-Brocks syndrome 0 trials Sub-types →
Treacher-Collins syndrome 0 trials Sub-types →
VACTERL with hydrocephalus 0 trials Sub-types →
VACTERL/vater association 0 trials Sub-types →
Valence-Farazi cerebellar ataxia syndrome 0 trials
Ververi-Brady syndrome 0 trials Sub-types →
Vici syndrome 0 trials
Waterhouse-Friderichsen syndrome 0 trials
Weaver syndrome 0 trials
Weill-Marchesani syndrome 0 trials Sub-types →
Wiedemann-Rautenstrauch syndrome 0 trials
Wildervanck syndrome 0 trials
Wissler syndrome 0 trials
Wolcott-Rallison syndrome 0 trials
Wolf-Hirschhorn syndrome 0 trials
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 trials
X-linked corneal dermoid 0 trials
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 0 trials
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 0 trials
X-linked lissencephaly with abnormal genitalia 0 trials
X-linked mandibulofacial dysostosis 0 trials
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 0 trials
X-linked myotubular myopathy-abnormal genitalia syndrome 0 trials
X-linked spasticity-intellectual disability-epilepsy syndrome 0 trials
XFE progeroid syndrome 0 trials
Yuksel-Vogel-Bauer syndrome 0 trials
Yunis-Varon syndrome 0 trials
Zadik-Barak-Levin syndrome 0 trials
Zazam Sheriff Phillips syndrome 0 trials
Zerres Rietschel Majewski syndrome 0 trials
Zinner syndrome 0 trials
Ablepharon macrostomia syndrome 0 trials
Achalasia-alacrima syndrome 0 trials
Acral dysostosis dyserythropoiesis syndrome 0 trials
Acrofrontofacionasal dysostosis 2 0 trials
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
Acute lymphoblastic leukemia congenital sporadic aniridia 0 trials
Aglossia and situs inversus 0 trials
Agnathia-microstomia-synotia 0 trials
Agyria pachygyria polymicrogyria 0 trials
Agyria-pachygyria type 1 0 trials
Alacrima, achalasia, and intellectual disability syndrome 0 trials
Alopecia - intellectual disability syndrome 0 trials Sub-types →
Alopecia congenita keratosis palmoplantaris 0 trials
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
Alpha thalassemia-intellectual disability syndrome type 1 0 trials
Alpha-mannosidosis type 1 0 trials
Alpha-thalassemia-myelodysplastic syndrome 0 trials
Aluminosis 0 trials
Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
Angioosteohypotrophic syndrome 0 trials
Aniridia - intellectual disability syndrome 0 trials
Aniridia-absent patella syndrome 0 trials
Aniridia-cerebellar ataxia-intellectual disability syndrome 0 trials
Aniridia-ptosis-intellectual disability-familial obesity syndrome 0 trials
Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
Ankle defects short stature 0 trials
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 trials
Ankyloblepharon filiforme imperforate anus 0 trials
Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
Annular constricting bands 0 trials
Anophthalmia cleft palate micrognathia 0 trials
Anophthalmia esophageal atresia cryptorchidism 0 trials
Anophthalmia plus syndrome 0 trials
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
Anotia facial palsy cardiac defect 0 trials
Anterior spinal artery syndrome 0 trials
Aortic dissection lentiginosis 0 trials
Aplasia cutis congenita-intestinal lymphangiectasia syndrome 0 trials
Aplasia of lacrimal and salivary glands 0 trials
Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
Arakawa syndrome 2 0 trials
Arena syndrome 0 trials
Arterial tortuosity-bone fragility syndrome 0 trials
Arthrogryposis IUGR thoracic dystrophy 0 trials
Arthrogryposis multiplex congenita CNS calcification 0 trials
Arthrogryposis spinal muscular atrophy 0 trials
Asternia 0 trials
Ataxia - telangiectasia variant 0 trials
Ataxia-photosensitivity-short stature syndrome 0 trials
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
Atrophoderma of Pierini and Pasini 0 trials
Auroneurodental syndrome 0 trials
Autism-facial port-wine stain syndrome 0 trials
Autosomal dominant cataract 0 trials Sub-types →
Autosomal dominant chondrodysplasia punctata 0 trials Sub-types →
Autosomal dominant deafness - onychodystrophy syndrome 0 trials
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
Autosomal recessive multiple pterygium syndrome 0 trials Sub-types →
Axial mesodermal dysplasia spectrum 0 trials
Baetz-greenwalt syndrome 0 trials
Bagatelle Cassidy syndrome 0 trials
Baker Vinters syndrome 0 trials
Basilar artery insufficiency 0 trials
Benign exophthalmos syndrome 0 trials
Bhaskar jagannathan syndrome 0 trials
Bilirubin induced brain injury in the newborn 0 trials
Black locks with albinism and deafness syndrome 0 trials
Blepharo naso facial syndrome van Maldergem type 0 trials
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 0 trials
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
Bobble-head doll syndrome 0 trials
Bone dysplasia corpus callosum agenesis 0 trials
Brachydactyly absence of distal phalanges 0 trials
Brachydactyly anonychia 0 trials
Brachydactyly small stature face anomalies 0 trials
Brachydactyly tibial hypoplasia 0 trials
Brachydactyly type A2 0 trials
Brachydactyly-arterial hypertension syndrome 0 trials
Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 0 trials
Brain malformation renal syndrome 0 trials
Branchio-oto-renal syndrome 0 trials Sub-types →
Branchiootic syndrome 0 trials Sub-types →
Brittle bone syndrome lethal type 0 trials
Bronchiectasis oligospermia 0 trials
Bruyn scheltens syndrome 0 trials
Burn goodship syndrome 0 trials
Campomelia, Cumming type 0 trials
Camptodactyly joint contractures and facial skeletal dysplasia 0 trials
Camptodactyly vertebral fusion 0 trials
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
Camptomelic syndrome, long-limb type 0 trials
Carbon baby syndrome 0 trials
Cardiac hydatid cysts with intracavitary expansion 0 trials
Cardiac, facial, and digital anomalies with developmental delay 0 trials
Cardiocutaneous syndrome 0 trials
Cardioectodermal syndrome 0 trials Sub-types →
Cardioencephalomyopathy 0 trials
Cardiofacial syndrome short limbs 0 trials
Cardiomelic syndrome stratton Koehler type 0 trials
Cardiomyopathy and deafness due to tRNA lysine gene mutation 0 trials
Cardiomyopathy diabetes deafness 0 trials
Cardiomyopathy hypogonadism collagenoma syndrome 0 trials
Cardiomyopathy hypogonadism metabolic anomalies 0 trials
Cardiomyopathy spherocytosis 0 trials
Cardiomyopathy-cataract-hip spine disease syndrome 0 trials
Carpo tarsal osteolysis recessive 0 trials
Cat-eye syndrome 0 trials
Cataract - microcornea syndrome 0 trials
Cataract skeletal anomalies 0 trials
Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
Cataract-deafness-hypogonadism syndrome 0 trials
Cataract-glaucoma syndrome 0 trials
Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
Cataract-nephropathy-encephalopathy syndrome 0 trials
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials Sub-types →
Caudal duplication 0 trials
Caudal regression-sirenomelia spectrum 0 trials Sub-types →
Cennamo gangemi syndrome 0 trials
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome 0 trials
Cerebellar agenesis 0 trials
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
Cerebello-olivary atrophy 0 trials
Cerebral calcification cerebellar hypoplasia 0 trials
Cerebral calcifications opalescent teeth phosphaturia 0 trials
Cerebrocostomandibular syndrome 0 trials
Childhood aortic valve stenosis 0 trials
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
Chondrodysplasia 0 trials Sub-types →
Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
Choreoacanthocytosis amyotrophic 0 trials
Chorioretinopathy dominant form microcephaly 0 trials
Chromosome 13q14 deletion syndrome 0 trials
Chromosome 16p12.1 deletion syndrome, 520kb 0 trials
Chromosome 18p deletion syndrome 0 trials
Chromosome 18q deletion syndrome 0 trials Sub-types →
Chromosome 3 duplication syndrome 0 trials
Chronic atrial and intestinal dysrhythmia 0 trials
Chronic demyelinizing neuropathy with IgM monoclonal 0 trials
Ciliary dyskinesia-bronchiectasis 0 trials
Circumscribed cutaneous aplasia of the vertex 0 trials
Circumscribed disseminated keratosis Jadassohn lew type 0 trials
Cleft lip and palate malrotation cardiopathy 0 trials
Cleft lip and/or palate with mucous cysts of lower 0 trials
Cleft lip palate dysmorphism kumar type 0 trials
Cleft lip palate intellectual disability corneal opacity 0 trials
Cleft lip palate oligodontia syndactyly pili torti 0 trials
Cleft lip palate pituitary deficiency 0 trials
Cleft lip palate-tetraphocomelia 0 trials
Cleft lip-retinopathy syndrome 0 trials
Cleft lip/palate-deafness-sacral lipoma syndrome 0 trials
Cleft lower lip cleft lateral canthi chorioretinal 0 trials
Cleft palate cardiac defect ectrodactyly 0 trials
Cleft palate colobomata radial synostosis deafness 0 trials
Cleft palate heart disease polydactyly absent tibia 0 trials
Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials Sub-types →
Cleft tongue 0 trials
Cleidorhizomelic syndrome 0 trials
Cloacal exstrophy 0 trials
Coarse face hypotonia constipation 0 trials
Cochleosaccular degeneration-cataract syndrome 0 trials
Coloboma porencephaly hydronephrosis 0 trials
Colobomata unilobar lung heart defect 0 trials
Colobomatous macrophthalmia-microcornea syndrome 0 trials
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
Colonic malakoplakia 0 trials
Complement receptor deficiency 0 trials
Congenital absence of the sternocleidomastoid muscle 0 trials
Congenital acardia 0 trials Sub-types →
Congenital aneurysms of the great vessels 0 trials
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 0 trials
Congenital articular rigidity 0 trials
Congenital benign spinal muscular atrophy dominant 0 trials
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 0 trials
Congenital cataract-ichthyosis syndrome 0 trials
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
Congenital contractures 0 trials
Congenital craniosynostosis maternal hyperthyroiditis 0 trials
Congenital cystic eye 0 trials Sub-types →
Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
Congenital heart disease ptosis hypodontia craniostosis 0 trials
Congenital heart disease radio ulnar synostosis intellectual disability 0 trials
Congenital hereditary facial paralysis-variable hearing loss syndrome 0 trials Sub-types →
Congenital ichthyosis-microcephalus-tetraplegia syndrome 0 trials
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
Congenital laryngeal web 0 trials
Congenital mumps 0 trials
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
Congenital stenosis of cervical medullary canal 0 trials
Congenital unilateral pulmonary hypoplasia 0 trials
Congenital vagal hyperreflexivity 0 trials
Congenital varicella syndrome 0 trials
Corneal crystals myopathy neuropathy 0 trials
Corneal dystrophy ichthyosis microcephaly intellectual disability 0 trials
Corneal dystrophy pigmentary anomaly malabsorption 0 trials
Corneal dystrophy-perceptive deafness syndrome 0 trials
Corneal-cerebellar syndrome 0 trials
Corpus callosum agenesis of blepharophimosis robin type 0 trials
Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
Corpus callosum agenesis-double urinary collecting system syndrome 0 trials
Corpus callosum dysgenesis X-linked recessive 0 trials
Corpus callosum dysgenesis cleft spasm 0 trials
Corpus callosum dysgenesis hypopituitarism 0 trials
Cortada Koussef Matsumoto syndrome 0 trials
Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
Cortical dysplasia-focal epilepsy syndrome 0 trials
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials Sub-types →
Craniofacial dysostosis arthrogryposis progeroid appearance 0 trials
Craniofaciocardiohepatic syndrome 0 trials
Craniofrontonasal syndrome Teebi type 0 trials
Craniostenosis with congenital heart disease intellectual disability 0 trials
Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome 0 trials
Craniosynostosis-scoliosis syndrome 0 trials
Crawfurd syndrome 0 trials
Cutis gyratum acanthosis nigricans craniosynostosis 0 trials
Cutis laxa osteoporosis 0 trials
Cystic fibrosis-gastritis-megaloblastic anemia syndrome 0 trials
De Hauwere Leroy adriaenssens syndrome 0 trials
De Sanctis-Cacchione syndrome 0 trials
Deafness conductive stapedial ear malformation facial palsy 0 trials
Deafness goiter stippled epiphyses 0 trials
Deafness hypospadias metacarpal and metatarsal syndrome 0 trials
Deafness mesenteric diverticula of small bowel neuropathy 0 trials
Deafness peripheral neuropathy arterial disease 0 trials
Deafness progressive cataract autosomal dominant 0 trials
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
Deafness-hypogonadism syndrome 0 trials
Deafness-intellectual disability, Martin-Probst type syndrome 0 trials
Dermatocardioskeletal syndrome boronne type 0 trials
Dermochondrocorneal dystrophy 0 trials
Developmental and speech delay due to SOX5 deficiency 0 trials
Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome 0 trials
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 0 trials
Dextrocardia with situs inversus 0 trials
Diabetes persistent mullerian ducts 0 trials
Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
Diaphragmatic agenesis radial aplasia omphalocele 0 trials
Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
Diaphragmatic hernia exomphalos corpus callosum agenesis 0 trials
Diaphragmatic hernia upper limb defects 0 trials
Diaphragmatic hernia-short bowel-asplenia syndrome 0 trials
Die Smulders droog van dijk syndrome 0 trials
Diencephalic syndrome 0 trials
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
Diffuse infiltrative lymphocytosis syndrome 0 trials
Digital anomalies-intellectual disability-short stature syndrome 0 trials
Dilated cardiomyopathy 1E 0 trials
Diomedi bernardi placidi syndrome 0 trials
Diphallus rachischisis imperforate anus 0 trials
Distal monosomy 13q 0 trials
Distal trisomy 14q 0 trials
Distichiasis heart congenital anomalies 0 trials
Diverticulosis of bowel, hernia, and retinal detachment 0 trials
Double discordia 0 trials
Double uterus-hemivagina-renal agenesis 0 trials
Double uterus-hemivagina-renal agenesis syndrome 0 trials
Duodenal atresia tetralogy of fallot 0 trials
Duplication of leg mirror foot 0 trials
Duplication of the thumb unilateral biphalangeal 0 trials
Dupont sellier chochillon syndrome 0 trials
Dwarfism bluish sclerae 0 trials
Dwarfism deafness retinitis pigmentosa 0 trials
Dwarfism lethal type advanced bone age 0 trials
Dwarfism thin bones multiple fractures 0 trials
Dyschondrosteosis-nephritis syndrome 0 trials
Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
Dysmorphism cleft palate loose skin 0 trials
Dyssegmental dysplasia-glaucoma syndrome 0 trials
Dystonia-aphonia syndrome 0 trials
Early-onset obesity-hyperphagia-severe developmental delay syndrome 0 trials
Ectrodactyly cardiopathy dysmorphism 0 trials
Ectrodactyly-polydactyly syndrome 0 trials
Empty sella syndrome 0 trials
Enamel hypoplasia cataract hydrocephaly 0 trials
Encephalocele anencephaly 0 trials
Encephalopathy, recurrent, of childhood 0 trials
Enchondromatosis dwarfism deafness 0 trials
Epidermal nevus vitamin D resistant rickets 0 trials
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
Epimetaphyseal dysplasia cataract 0 trials
Epiphyseal dysplasia dysmorphism camptodactyly 0 trials
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
Ermine phenotype 0 trials
Esophageal atresia coloboma talipes 0 trials
Estrogen resistance syndrome 0 trials
Euthyroid sick syndrome 0 trials
Even-plus syndrome 0 trials
Extrasystoles short stature hyperpigmentation microcephaly 0 trials
Eyebrow duplication-syndactyly syndrome 0 trials
Facial clefting corpus callosum agenesis 0 trials
Facio digito genital syndrome recessive form 0 trials
Facio skeletal genital syndrome rippberger type 0 trials
Faciodigitogenital syndrome 0 trials Sub-types →
Familial capillaro-venous leptomeningeal angiomatosis 0 trials
Familial episodic pain syndrome with predominantly lower limb involvement 0 trials
Familial infantile bilateral striatal necrosis 0 trials Sub-types →
Familial intestinal malrotation-facial anomalies syndrome 0 trials
Familial osteodysplasia, Anderson type 0 trials
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
Feigenbaum Bergeron syndrome 0 trials
Ferro-cerebro-cutaneous syndrome 0 trials
Fetal akinesia deformation sequence 0 trials Sub-types →
Fetal brain disruption sequence 0 trials
Fetal enterovirus syndrome 0 trials
Fetal hydantoin syndrome 0 trials
Fetal parainfluenza virus type 3 syndrome 0 trials
Fetal phenothiazine syndrome 0 trials
Fetal valproate syndrome 0 trials
Fibrogenesis imperfecta ossium 0 trials
Fibromatosis multiple non ossifying 0 trials
Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
Fibula aplasia complex brachydactyly 0 trials
Fibular aplasia-ectrodactyly syndrome 0 trials
Fibular hypoplasia scapulo pelvic dysplasia absent 0 trials
Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 0 trials
Focal alopecia congenital megalencephaly 0 trials
Focal or multifocal malformations in neuronal migration 0 trials
Foix chavany Marie syndrome 0 trials
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
Fragile X-associated tremor/ataxia syndrome 0 trials
Frontofacionasal dysplasia 0 trials
Frontonasal dysplasia Klippel feil syndrome 0 trials
Frontonasal dysplasia phocomelic upper limbs 0 trials
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 0 trials
Frontonasal malformation cloacal exstrophy 0 trials
Genitopatellar syndrome 0 trials
Gershinibaruch Leibo syndrome 0 trials
Gigantism advanced bone age hoarse cry 0 trials
Gingival fibromatosis-facial dysmorphism syndrome 0 trials
Glaucoma-sleep apnea syndrome 0 trials
Global developmental delay-osteopenia-ectodermal defect syndrome 0 trials
Glossopalatine ankylosis micrognathia ear anomalies 0 trials
Goldstein hutt syndrome 0 trials
Goniodysgenesis intellectual disability short stature 0 trials
Gray platelet syndrome 0 trials
Green sandford davison syndrome 0 trials
Grix Blankenship Peterson syndrome 0 trials
Growth delay-hydrocephaly-lung hypoplasia syndrome 0 trials
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 trials
Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
Hair defect with photosensitivity and intellectual disability syndrome 0 trials
Hand-foot-genital syndrome 0 trials
Hearing impairment and infertile male syndrome 0 trials
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 0 trials
Heart-hand syndrome 0 trials Sub-types →
Hepatic fibrosis-renal cysts-intellectual disability syndrome 0 trials
Hereditary benign intraepithelial dyskeratosis 0 trials
Hereditary continuous muscle fiber activity 0 trials
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 0 trials
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0 trials
Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
High myopia-sensorineural deafness syndrome 0 trials
Holoprosencephaly 0 trials Sub-types →
Holoprosencephaly-postaxial polydactyly syndrome 0 trials
Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
Hydrocephalus-obesity-hypogonadism syndrome 0 trials
Hydrocephaly-cerebellar agenesis syndrome 0 trials
Hypergonadotropic hypogonadism-cataract syndrome 0 trials
Hypertrichotic osteochondrodysplasia Cantu type 0 trials
Hypogonadism-mitral valve prolapse-intellectual disability syndrome 0 trials
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 0 trials
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
Hypotonia-cystinuria syndrome 0 trials Sub-types →
Hypotrichosis-deafness syndrome 0 trials
Hypotrichosis-intellectual disability, Lopes type 0 trials
Hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 0 trials Sub-types →
Ichthyosis linearis circumflexa 0 trials
Ichthyosis-cheek-eyebrow syndrome 0 trials
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0 trials
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
Ichthyosis-oral and digital anomalies syndrome 0 trials
Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
Infantile choroidocerebral calcification syndrome 0 trials
Infantile convulsions and choreoathetosis 0 trials
Infantile striato thalamic degeneration 0 trials
Infundibulopelvic stenosis-multicystic kidney syndrome 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Intellectual disability, autosomal dominant 30 0 trials
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 0 trials
Intellectual disability-cataracts-kyphosis syndrome 0 trials
Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
Intellectual disability-hypotonia-skin hyperpigmentation syndrome 0 trials
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 0 trials
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0 trials
Intellectual disability-strabismus syndrome 0 trials
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 0 trials
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 0 trials
Ischio-vertebral syndrome 0 trials
Isotretinoin syndrome 0 trials
Joint laxity, short stature, and myopia 0 trials
Keratosis follicularis-dwarfism-cerebral atrophy syndrome 0 trials
Laryngeal abductor paralysis-intellectual disability syndrome 0 trials
Laryngo-onycho-cutaneous syndrome 0 trials
Lateral medullary syndrome 0 trials
Le Marec-Bracq-Picaud syndrome 0 trials
Lethal congenital contracture syndrome 1 0 trials
Lethal hemolytic anemia-genital anomalies syndrome 0 trials
Lethal multiple pterygium syndrome 0 trials Sub-types →
Limb body wall complex 0 trials
Linkeropathy 0 trials Sub-types →
Loin pain hematuria syndrome 0 trials
Lower limb deficiency-hypospadias syndrome 0 trials
Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
Lymphedema-atrial septal defects-facial changes syndrome 0 trials
Lymphedema-cerebral arteriovenous anomaly syndrome 0 trials
Lymphedema-distichiasis syndrome 0 trials
Macrocephaly-short stature-paraplegia syndrome 0 trials
Macrogyria, pseudobulbar palsy and intellectual disability 0 trials
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
Mandibulofacial dysostosis with alopecia 0 trials
Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials Sub-types →
Megalencephaly-polydactyly syndrome 0 trials
Merlob grunebaum reisner syndrome 0 trials
Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 trials
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
Methimazole embryofetopathy 0 trials
Microcephalic primordial dwarfism due to RTTN deficiency 0 trials Sub-types →
Microcephalic primordial dwarfism, Alazami type 0 trials
Microcephalic primordial dwarfism, Toriello type 0 trials
Microcephaly and chorioretinopathy 1 0 trials
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
Microcephaly-brain defect-spasticity-hypernatremia syndrome 0 trials
Microcephaly-capillary malformation syndrome 0 trials
Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
Microcephaly-microcornea syndrome, Seemanova type 0 trials
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 0 trials
Microgastria-limb reduction defect syndrome 0 trials
Microlissencephaly-micromelia syndrome 0 trials
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0 trials
Mirror polydactyly-vertebral segmentation-limbs defects syndrome 0 trials
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 trials
Monosomy 13q34 0 trials
Motor developmental delay due to 14q32.2 paternally expressed gene defect 0 trials Sub-types →
Mulibrey nanism 0 trials
Mullerian derivatives-lymphangiectasia-polydactyly syndrome 0 trials
Mullerian duct anomalies-limb anomalies syndrome 0 trials
Multicentric osteolysis, nodulosis, and arthropathy 0 trials
Multicentric reticulohistiocytosis 0 trials
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 0 trials
Multiple synostoses syndrome 0 trials Sub-types →
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0 trials
Muscular fibrosis multifocal obstructed vessels 0 trials
Muscular pseudohypertrophy-hypothyroidism syndrome 0 trials
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
Myopathy-growth delay-intellectual disability-hypospadias syndrome 0 trials
Nasopalpebral lipoma-coloboma syndrome 0 trials
Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts 0 trials
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 trials
Nephrogenic diabetes insipidus-intracranial calcification syndrome 0 trials
Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
Nodular neuronal heterotopia 0 trials Sub-types →
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 0 trials
Oculo digital syndrome 0 trials
Oculo-skeletal-renal syndrome 0 trials
Oculocerebrodental syndrome 0 trials
Oculocerebrofacial syndrome, Kaufman type 0 trials
Oculodental syndrome, Rutherfurd type 0 trials
Oculogastrointestinal-neurodevelopmental syndrome 0 trials
Oculomaxillofacial dysostosis 0 trials Sub-types →
Oculovertebral syndrome 0 trials
Olivopontocerebellar atrophy-deafness syndrome 0 trials
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
Oromandibular-limb anomalies syndrome 0 trials Sub-types →
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
Osteopenia-intellectual disability-sparse hair syndrome 0 trials
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 0 trials
Osteoporosis-pseudoglioma syndrome 0 trials
Osteosclerosis-ichthyosis-premature ovarian failure syndrome 0 trials
Otopalatodigital syndrome type 1 0 trials
Painful legs and moving toes syndrome 0 trials
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 trials
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 0 trials Sub-types →
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
Paraplegia-intellectual disability-hyperkeratosis syndrome 0 trials
Parkinsonism-dystonia, infantile 0 trials Sub-types →
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
Pentasomy X 0 trials
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
Pfeiffer rockelein syndrome 0 trials
Phosphoribosylpyrophosphate synthetase deficiency 0 trials
Piepkorn karp hickok syndrome 0 trials
Pili torti-developmental delay-neurological abnormalities syndrome 0 trials
Podder-tolmie syndrome 0 trials
Pointer syndrome 0 trials
Polydactyly-macrocephaly syndrome 0 trials
Polyendocrine-polyneuropathy syndrome 0 trials
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 0 trials
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
Primary hypergonadotropic hypogonadism-partial alopecia syndrome 0 trials
Primary hypertrophic osteoarthropathy 0 trials Sub-types →
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 0 trials
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 0 trials
Progeria-short stature-pigmented nevi syndrome 0 trials
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
Prostatic malacoplakia associated with prostatic abscess 0 trials
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 0 trials
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 0 trials
Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome 0 trials
Ptosis-strabismus-ectopic pupils syndrome 0 trials
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 0 trials
Ptosis-vocal cord paralysis syndrome 0 trials
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome 0 trials
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
Radial ray hypoplasia-choanal atresia syndrome 0 trials
Radio-digito-facial dysplasia 0 trials
Radioulnar synostosis-microcephaly-scoliosis syndrome 0 trials
Ragopathy 0 trials
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 0 trials
Renal caliceal diverticuli-deafness syndrome 0 trials
Renal coloboma syndrome 0 trials
Renal cysts and diabetes syndrome 0 trials
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 0 trials
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0 trials
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 0 trials
Richieri-costa guion-almeida cohen syndrome 0 trials
Ring chromosome 10 0 trials
Ring chromosome 13 0 trials
Ruvalcaba churesigaew myhre syndrome 0 trials
Scalp defects-postaxial polydactyly syndrome 0 trials
Schisis association 0 trials
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
Shone complex 0 trials
Short fifth metacarpals-insulin resistance syndrome 0 trials
Short limb dwarf lethal colavita kozlowski type 0 trials
Short stature contractures hypotonia 0 trials
Short stature, microcephaly, and endocrine dysfunction 0 trials
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 0 trials
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 trials
Shoulder and girdle defects-familial intellectual disability syndrome 0 trials
Sickle cell-hemoglobin E disease syndrome 0 trials
Sickle cell-hemoglobin d disease syndrome 0 trials
Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 trials
Spastic ataxia-corneal dystrophy syndrome 0 trials
Spastic paraparesis-cataracts-speech delay syndrome 0 trials
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
Spina bifida-hypospadias syndrome 0 trials
Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
Subaortic stenosis-short stature syndrome 0 trials
Subcortical band heterotopia 0 trials Sub-types →
Syndactyly-polydactyly-ear lobe syndrome 0 trials
Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
Syndromic congenital sodium diarrhea 0 trials
Syndromic microspherophakia 0 trials
Syndromic orbital border hypoplasia 0 trials
Syngnathia multiple anomalies 0 trials
Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
Tempi syndrome 0 trials
Temtamy preaxial brachydactyly syndrome 0 trials
Tetrasomy 12p 0 trials
Thickened earlobes with conductive deafness from incus-stapes abnormalities 0 trials
Thoraco-abdominal enteric duplication 0 trials
Thyrocerebrorenal syndrome 0 trials
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0 trials
Trigeminal trophic syndrome 0 trials
Trigonocephaly-short stature-developmental delay syndrome 0 trials
Tubular renal disease-cardiomyopathy syndrome 0 trials
Tubulointerstitial nephritis and uveitis syndrome 0 trials
Ulnar hypoplasia-split foot syndrome 0 trials
Ulnar-mammary syndrome 0 trials
Umbilical cord ulceration-intestinal atresia syndrome 0 trials
Van den Bosch syndrome 0 trials
Vitamin K-antagonist embryofetopathy 0 trials
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 0 trials
Weinstein kliman scully syndrome 0 trials
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 0 trials
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 0 trials
Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
Yellow nail syndrome 0 trials