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Gene: Fbln1 MGI:95487

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
fibulin 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fbln1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fbln1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Cryptorchidism ORPHA:404451
Synpolydactyly 2
Tarsal synostosis, Metatarsal synostosis, Metacarpal synostosis, Carpal synostosis OMIM:608180

The table below shows human diseases predicted to be associated to Fbln1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Genitopalatocardiac Syndrome
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... OMIM:231060
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micrognathia, Cyanosis,... ORPHA:3304
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Microretrognathia, Secund... OMIM:616866
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Flared nostrils, Dilated cardiomyopathy, Retrognathia, Premature graying of hair, M... ORPHA:280679
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Small hand, Elevated circulating luteinizing hormone level, Premature graying of ha... OMIM:300845
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Natal tooth, Atresia of the external auditory canal, Bilateral condu... OMIM:620186
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Sneddon Syndrome
Livedo, Lymphopenia, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Bicuspid aortic v... OMIM:182410
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Anteverted nares, Abnormal ... ORPHA:2412
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemid... ORPHA:2257
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Agnathia-Otocephaly Complex
Low-set ears, Secundum atrial septal defect, Conductive hearing impairment, Respiratory distress,... OMIM:202650
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose,... ORPHA:3047
Recombinant Chromosome 8 Syndrome
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... OMIM:179613
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Mitral regurgitation, Sensorineur... ORPHA:1600
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Hearing impairment, Micrognathia, Single ventricle, Thyroid hypop... OMIM:308050
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Decreased nerve conduction velocity, Foot dorsiflex... ORPHA:477817
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Retrognathia, Umbi... OMIM:619758
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Prominence of the premaxilla, Double outlet ri... OMIM:614886
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Ear pain, Sync... ORPHA:221098
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Petechiae, Bradycardia, Abnormal renal corticome... OMIM:617397
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, De... OMIM:620609
Pseudo-Torch Syndrome 1
Low-set ears, Microretrognathia, Umbilical hernia, Anteverted nares, Petechiae, Patent foramen ov... OMIM:251290
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Short 5th finger, Secundum atrial septal defect, Short 2nd finger, Ventricular sept... OMIM:600987
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Short toe, Short 5th metacarpal, 11 pairs of ribs, A... OMIM:617877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Depressed nasal bridge, Secundum atrial septal defect, Dilation of Virchow-Robin sp... OMIM:619951
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... ORPHA:824
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Dental malocclusion, Retrognathia, Hearing impairment, Abnormal heart morphology, ... ORPHA:363444
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Lethal Congenital Contracture Syndrome 10
Low-set ears, Increased variability in muscle fiber diameter, Micrognathia, Ventricular septal de... OMIM:617022
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Limb hyper... OMIM:619909
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... OMIM:620296
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Gaucher Disease, Perinatal Lethal
Low-set ears, Depressed nasal bridge, Pulmonary hypoplasia, Retrognathia, Respiratory distress, H... OMIM:608013
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Depressed nasal bridge, Tetralogy of... OMIM:220210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Dry skin, Hep... OMIM:619503
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Abnormal heart mo... ORPHA:93400
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Hyperplasia of the maxilla, Prominent nose, Micrognathia, Recurren... OMIM:620194
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Ogden Syndrome
Low-set ears, Flared nostrils, Facial wrinkling, Torsade de pointes, Recurrent otitis media, Dela... OMIM:300855
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Chronic noninfectious lymphadenopathy, Petech... OMIM:603909
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Cupped ear, Third degree atrioventricular block, Atrioventricular canal... ORPHA:40366
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Failure to thrive, Petechiae, Splenomegaly, Diffuse telangiectas... OMIM:170100
Snijders Blok-Campeau Syndrome
Low-set ears, Wide nasal bridge, Umbilical hernia, Prominent nose, Taurodontia, Perimembranous ve... OMIM:618205
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus arte... OMIM:618316
Birk-Aharoni Syndrome
Hearing impairment, Long nasal bridge, Muscular ventricular septal defect, Micrognathia, Cryptorc... OMIM:620071
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Congenital Syphilis
Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,... ORPHA:499009
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Chromosome 9P Deletion Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Depressed nasal bridge, Prominent antihelix, Re... OMIM:158170
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal form of the vertebral bodies, Pan... ORPHA:464329
Sotos Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Enlarged na... OMIM:117550
Periventricular Nodular Heterotopia 1
Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Pulmonary artery atresia, Aplasia/Hypoplasia of t... ORPHA:3426
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:94080
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormal lung lobation, Low-set, posteriorly rotated ears, Umbilica... ORPHA:2166
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecch... OMIM:620514
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Diamond-Blackfan Anemia 7
Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Hearing impairment, At... OMIM:612562
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Sensorineura... OMIM:612541
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... ORPHA:906
Mirage Syndrome
Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal i... OMIM:617053
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great art... OMIM:619910
Congenital Factor Xiii Deficiency
Gingival bleeding, Poor wound healing, Prolonged bleeding after dental extraction, Abnormal umbil... ORPHA:331
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal peripheral nervous system morphology, Hematochezia, Gastrointestinal hemorrhage, Diffuse... ORPHA:464321
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... ORPHA:3384
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Intellectual Developmental Disorder, Autosomal Recessive 72
Low-set ears, Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Prominent nose, Wi... OMIM:618665
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... OMIM:619170
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Secundum atrial septal defect, Retrognathia, Skeletal muscle atrophy, Congestive he... OMIM:608779
Fucosidosis
Low-set ears, Hearing impairment, Cherry red spot of the macula, Dry skin, Angiokeratoma, Beaking... OMIM:230000
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Hematuria, Pulmonary edema, Glomerulonephritis, Tu... ORPHA:340
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Stage 5 chronic kidney disease, Abnormal B cell count, Hydronephrosis, Glo... OMIM:613496
Sandestig-Stefanova Syndrome
Low-set ears, Wide nasal bridge, Retrognathia, Muscular ventricular septal defect, Underdeveloped... OMIM:618804
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge, Carious teeth, Multiple muscular ventricular septal defects, Micrognathia, Dea... OMIM:620070
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Sensorineural hearing impairment, Coarcta... OMIM:614300
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... ORPHA:903
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital dia... OMIM:614437
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Treacher-Collins Syndrome
Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hyp... ORPHA:861
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale... OMIM:620642
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se... OMIM:249420
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Syncope, Neut... ORPHA:1959
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Micrognathia, Myopathy, Type 1 fibers relatively sm... OMIM:300580
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chr... ORPHA:244
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Oligomeganephronia
Secundum atrial septal defect, Hearing impairment, Optic disc coloboma, Branchial cyst, Micrognat... ORPHA:2260
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Secundum atrial septal defect, Anteverted nares, Prominent nasal bri... OMIM:608688
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Ventricular septal de... OMIM:619534
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Crypto... OMIM:618109
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Polysplenia, Situs inversus totalis, Partial atrioventricular canal ... OMIM:619608
Alg12-Cdg
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Micrognathia, Cryptorch... ORPHA:79324
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Cutis marmorata... ORPHA:91138
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... ORPHA:91387
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Decreased circulating T4 concentration, Cryptorchidism, Death in infancy, Neonatal ... OMIM:608104
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Purpura, Glomerulonephritis OMIM:614380
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Auricular tag, Hypopituitarism, Central adre... ORPHA:672
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Anemia, M... OMIM:187800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Bicuspid aor... ORPHA:508498
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Retrognathia, Hearing impairment, Large earlobe, Leukopenia, Butterfly vertebrae, C... OMIM:301056
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal... ORPHA:567
Meningococcal Meningitis
Hypotension, Hearing impairment, Shock, Petechiae, Stroke, Increased circulating procalcitonin co... ORPHA:33475
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Sepsis In Premature Infants
Hypotension, Oliguria, Abnormal bleeding, Reversible renal failure, Petechiae, Pallor, Cyanosis, ... ORPHA:90051
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Catel-Manzke Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar flattening, Ventr... ORPHA:1388
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocar... OMIM:306955
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Tricuspid regurgitation, Bulbous nose, Cerebral hemorrhage, Posteriorly rotated e... OMIM:620371
Down Syndrome
Type II diabetes mellitus, Acute megakaryocytic leukemia, Ventricular septal defect, Neutrophilia... ORPHA:870
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... OMIM:620278
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Sensory axonal neuropathy, Hypertrophic cardiomyopathy, Facial dip... OMIM:619121
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebr... ORPHA:371428
Diamond-Blackfan Anemia 21
Aortic regurgitation, Low-set ears, Secundum atrial septal defect, Short toe, Cutis marmorata, Mi... OMIM:620072
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... OMIM:612840
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Failure to thrive, Premature graying of hair, Dry skin, Pancytopenia, Petechi... OMIM:620331
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted nares, Mic... OMIM:617616
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Hypothyroidism, Thrombocytopenia, ... OMIM:225750
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Anemia, Thrombocytopenia, Pericardial effusion, Prolonged QTc interval, Per... ORPHA:231111
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Pseudo-Torch Syndrome 3
Lymphadenitis, Apnea, Leukocytosis, Death in infancy, Cardiomegaly, Congenital thrombocytopenia, ... OMIM:618886
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Death in infancy, Acrocyanosis, Ethylmalonic aciduria OMIM:602473
Charge Syndrome
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural... OMIM:214800
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... OMIM:101200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Poor wound healing, Hearing impairment, Micrognathia, Myopathy, Sensorineural heari... ORPHA:536545
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Low-set ears, Hydrocele testis OMIM:620062
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... ORPHA:3226
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Boutonneuse Fever
Vasculitis, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Petechiae, Lymphadenopathy... ORPHA:83313
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Pulmonary hypoplasia, Retrognathia, Anteverted... OMIM:608149
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tac... ORPHA:49827
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Skeletal muscle atrophy, Secundum atrial septal defect, Prominent antihel... OMIM:615802
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Angin... OMIM:177850
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Vertebrobasila... ORPHA:521445
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... ORPHA:226307
Bilateral Polymicrogyria
Low-set ears, Central hypothyroidism, Micrognathia, Facial diplegia, Abnormal glossopharyngeal ne... ORPHA:268940
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte... ORPHA:2299
Tick-Borne Encephalitis
Skeletal muscle atrophy, Hearing impairment, Vertigo, Leukopenia, Abnormal cranial nerve morpholo... ORPHA:297
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Recurrent respiratory infections, Failure to thrive, Ap... OMIM:241500
Hoxha-Aliu Syndrome
Low-set ears, Abnormal vertebral morphology, Absent fifth metatarsal, Atrial septal defect, Uplif... OMIM:620662
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Petechiae, Bruising susceptibility, Mitral valve prolapse OMIM:225310
Simple Cryoglobulinemia
Cold urticaria, Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Purpura, Vasculitis,... ORPHA:91139
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Increased c... ORPHA:90674
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Congenit... OMIM:615524
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Ventricular septal defect, Tachypnea, Atrial septal defect, Paten... ORPHA:79345
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morphology, Apnea, Micro... OMIM:214110
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Sneddon Syndrome
Nephropathy, Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrha... ORPHA:820
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... OMIM:618901
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Hemophagocytosis, Petechiae, Splenomegaly, Ecchymosis, Lymphadenopathy, ... ORPHA:540
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... ORPHA:31825
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Cryptorchidism, M... OMIM:180849
Fanconi Anemia, Complementation Group Q
Low-set ears, Bone marrow hypocellularity, Absent thumb, Primum atrial septal defect OMIM:615272
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:276621
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Micrognathia, Atrioventricular dissociati... OMIM:142900
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Vascular dilatation, Wide nasal bridge, Peripheral pulmonary ar... OMIM:613177
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Temporomandibular join... ORPHA:141152
Pancreatic And Cerebellar Agenesis
Low-set ears, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Apnea, Re... OMIM:609069
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventri... OMIM:613870
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Okamoto Syndrome
Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Wide nasal bridge, Depressed nasa... ORPHA:2729
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Keutel Syndrome
Optic atrophy, Short distal phalanx of finger, Depressed nasal bridge, Hearing impairment, Underd... ORPHA:85202
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Cutis marmorata, Hematuria, Weight loss, Tubulointerstitial nephritis... ORPHA:183
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... ORPHA:363958
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Atrial se... ORPHA:261295
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Petechiae, Splenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Erythrocytosis, Familial, 1
Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased c... OMIM:133100
Joubert Syndrome 14
Low-set ears, Optic atrophy, Prominent nasal bridge, Malar flattening, Encephalocele, Ventricular... OMIM:614424
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular... ORPHA:66634
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... OMIM:617241
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Abnormal platelet count, Bruising susceptibility, Ecchymosis OMIM:614009
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Respiratory di... ORPHA:1832
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage ORPHA:98880
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Pyoder... ORPHA:49566
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Kyphoscoliosis ORPHA:96190
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Petechiae, Splenomegaly, Lymphadenopat... ORPHA:79477
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Patent ductus ... ORPHA:3092
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, T... ORPHA:1120
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Micrognathia, C... OMIM:618651
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Giant Cell Arteritis
Vasculitis, Epistaxis, Optic atrophy, Conductive hearing impairment, Aortic dissection, Double ou... ORPHA:397
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1166
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Microphthalmia, Syndromic 9
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal d... OMIM:601186
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocytopeni... ORPHA:294
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Elbow dislocation, Dry skin, Micrognathia, Cryptorchidism, Hip contracture, Ventric... OMIM:210710
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, Crypto... ORPHA:1918
Tarp Syndrome
Low-set ears, Optic atrophy, Wide nasal bridge, Prominent antihelix, Subdural hemorrhage, Tetralo... OMIM:311900
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Micrognathi... ORPHA:1913
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra... OMIM:157800
Williams Syndrome
Synostosis of joints, Genu valgum, Carious teeth, Micrognathia, Type II diabetes mellitus, Mitral... ORPHA:904
Lujo Hemorrhagic Fever
Hypotension, Atelectasis, Respiratory distress, Shock, Lymphopenia, Leukopenia, Leukocytosis, Exc... ORPHA:319213
Catel-Manzke Syndrome
Low-set ears, Joint dislocation, Short toe, Umbilical hernia, Narrow naris, Narrow nose, Microgna... OMIM:616145
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Atrial septa... OMIM:612474
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Broad nasal tip, Atrial septal defect, Umbilical hernia OMIM:618354
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical hernia, Joint disloc... OMIM:130000
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble... ORPHA:465
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Osteogenesis Imperfecta
Carious teeth, Aortic root aneurysm, Hearing impairment, Enlarged vertebral pedicles, Micrognathi... ORPHA:666
3C Syndrome
Aortic valve stenosis, Low-set ears, Micrognathia, Abnormal mitral valve morphology, Ventricular ... ORPHA:7
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Mediastinal... ORPHA:158029
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Polycythemia, Macular purpura, Graves disease, Cutis marmorata, I... ORPHA:542643
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies OMIM:223350
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Conge... ORPHA:2326
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Ankle flexion contracture, Muscular dystrophy, Small hand, Depressed nasal bridge,... OMIM:608799
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Cryptorchidism, Ventricular septal defect, Absent frontal sinuses, Sensorineural he... OMIM:301040
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Leukocytosis, Autoimmune hem... OMIM:243150
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Scoliosis, Atrial septal defect, Ventricular septal defect OMIM:608227
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Emphysema, Respiratory distres... ORPHA:70589
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... ORPHA:33226
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte ... OMIM:300400
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Wide nasal bridge, Dental malocclusion, Hearing impairment, Abnormal pattern... OMIM:619149
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Respiratory... ORPHA:781
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the e... OMIM:301022
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Micrognathia, Malar fla... OMIM:241310
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Elevated jugular ... ORPHA:2041
Recon Progeroid Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Underdeveloped nasal alae, Dry skin, Anteve... OMIM:620370
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Neutrophilia, Tachycardia, Jaundice, Purpura... ORPHA:99827
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism... ORPHA:401935
Tempi Syndrome
Polycythemia, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Abnormality of... ORPHA:284227
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... ORPHA:29072
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t... ORPHA:293939
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Respiratory distress, Peripheral demyelination, Left ventricular hypertrophy,... OMIM:616733
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... OMIM:249270
Atelis Syndrome 1
Carious teeth, Dry skin, Leukopenia, Prominent nose, Glue ear, Ventricular septal defect, Hypothy... OMIM:620184
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognat... ORPHA:352490
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Ventricular septal defec... ORPHA:261120
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... OMIM:616867
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Iga Nephropathy, Susceptibility To, 1
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Hematuria, Purpura OMIM:161950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Myopathy, Cardiomyopathy ORPHA:26792
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Shock, Respiratory distress, Renal insufficiency, Respiratory tract infec... ORPHA:36234
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Optic atrophy, Wide nasal bridge, Broad columella, Recurrent respiratory infections... OMIM:619383
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Anemia, Purpura ORPHA:375
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Abnormality of the outer ear, Conductive ... ORPHA:79113
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Cutis marmorata, Pancytopenia, Hepatosplenomegaly, Livedo ra... OMIM:615688
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Orthopne... ORPHA:980
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... OMIM:306900
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum... OMIM:613603
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Kyphosis, Narrow nose, Cutis marmorata, Congenital diaphragm... OMIM:617602
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Ventricular septal defect, Prominent nasal tip, Atrial septal defect, Flat acetabula... OMIM:618870
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Choanal atresia, Retrognathia, Muscular ventricular septal defect, Butterfly verteb... OMIM:619227
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Arthritis, Anemia, Purpura OMIM:604250
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Hemolytic anemia, Pleuriti... ORPHA:809
Neurofibromatosis-Noonan Syndrome
Low-set ears, Depressed nasal bridge, Neurofibroma, Secundum atrial septal defect, Malar flatteni... OMIM:601321
Atelis Syndrome 2
Low-set ears, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Bulbous n... OMIM:620185
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Hearing impairment, Recurrent respi... ORPHA:163956
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Nasal congestion, Elbow flexion contracture, Bulbous nose, ... OMIM:608836
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Carious teeth, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Radioulna... ORPHA:536467
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, Short thumb, Abnormal heart morphology, S... ORPHA:391641
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Wide nasal bridge, Microretrognathia, Respiratory distress, Patent foramen ovale, A... ORPHA:89844
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Retrognathia, Short thumb, Persistenc... OMIM:612561
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Vitreous hemorrhage ORPHA:90050
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Hearing i... OMIM:614261
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Skeletal muscle atrophy, Subdural hemorrhage, Kyphos... OMIM:618291
Down Syndrome
Shallow acetabular fossae, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septa... OMIM:190685
Neurooculocardiogenitourinary Syndrome
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Prominent nasal bridge, Patent f... OMIM:618652
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... OMIM:609029
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Renal insuff... OMIM:203300
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Tetralogy of Fallot, Anteverted nares, Prominent nasal bri... OMIM:612946
Malan Syndrome
Retrognathia, Cutis marmorata, Hyperplasia of the premaxilla, Advanced eruption of teeth, Scolios... OMIM:614753
Li-Campeau Syndrome
Low-set ears, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defec... OMIM:619189
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Micrognathia, Ventricular septal defect, Sco... OMIM:615731
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Ventricular septal defect, Posteriorly rotated ears, Scoliosis, Patent ductus arter... OMIM:619717
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Aplasia of the thymus, Atrial septal defect, Hypoparathyroidism, Patent ductus arte... OMIM:618223
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Bulbous nose, Ventricular septal defect, Atrial septal defect, Pulmonary sequestrat... OMIM:618330
Microcephaly 30, Primary, Autosomal Recessive
Choanal stenosis, Secundum atrial septal defect, Uplifted earlobe OMIM:620183
Fetal Gaucher Disease
Depressed nasal bridge, Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopeni... ORPHA:85212
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Talipes valgus, Decreased nerve conduction velocity, Ve... OMIM:616652
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Cerebral hemor... OMIM:263400
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Hearing impairment, Cleft at the s... OMIM:614669
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Prominent scalp veins, Dry skin, Micrognathia, Reduced subcutaneous ad... OMIM:264090
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hearing impairment, Congenital diaphragmatic hernia, Histiocytoid... OMIM:309801
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear... OMIM:301043
Propionic Acidemia
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Cardiomyopathy, Pa... OMIM:606054
Lowry-Maclean Syndrome
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism,... ORPHA:2409
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi... ORPHA:1926
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Respiratory distress, Prolonged QRS ... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Incisor macrodontia, Po... OMIM:615502
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Abnormal cranial nerve morphology, Ve... ORPHA:624
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Hearing impairment, Atresia of the external auditory canal, Cryptorchidism... OMIM:601808
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Hearing impairment, Ventricular septal defect, Bicuspid aort... OMIM:618164
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Ring Chromosome 12 Syndrome
Low-set ears, Symphalangism of the thumb, Secundum atrial septal defect, Breast hypoplasia, Lumba... ORPHA:1439
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Pulmonary hypoplasia, Cupped ear, Retrognathia, Scoliosi... ORPHA:314588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa... ORPHA:2072
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Joint dislocation, Micromelia, Hypertrophic cardiomyopathy, An... ORPHA:1842
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
8Q12 Microduplication Syndrome
Wide nasal bridge, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Ventricul... ORPHA:228399
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Aplasia/Hypoplasia of the radius, Absent thumb, K... ORPHA:392
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Aortic root aneurysm, Short toe, Umbilical hernia, Tricuspid regurgitati... ORPHA:404443
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal... ORPHA:50251
Noonan Syndrome 11
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cut... OMIM:618499
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Dry skin, Decreased circulating T4 concentration, ... ORPHA:99832
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Renal hypoplasia, Small for gestation... ORPHA:84064
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Atrial septal defect, Neutropenia, Patent ductus arteriosus, Wide nose, Hyper... OMIM:617303
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Coronal craniosynostosis, Aortic root aneu... OMIM:145420
Lujan-Fryns Syndrome
Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal b... ORPHA:776
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose OMIM:137550
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Depressed nasal ridge, Hearing impairment, Aplas... ORPHA:1727
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Timothy Syndrome
Pneumonia, Depressed nasal bridge, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Paten... OMIM:601005
Meacham Syndrome
Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:608978
Stankiewicz-Isidor Syndrome
Low-set ears, Absent thumb, Retrognathia, Hearing impairment, Short thumb, Prominent nose, Microg... OMIM:617516
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Choanal atresia, Underdeveloped nasal alae, Overhangin... ORPHA:163979
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Respiratory distress... OMIM:610978
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Skin ulcer, Subcutaneous hemorrhage, V... ORPHA:743
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,... ORPHA:324636
Chromosome 5Q12 Deletion Syndrome
Hypotension, Prominent nose, Micrognathia, Overfolded helix, Patent foramen ovale, Ventricular se... OMIM:615668
Thanatophoric Dysplasia
Low-set ears, Depressed nasal bridge, Platyspondyly, Kyphosis, Hearing impairment, Micromelia, Re... ORPHA:2655
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Emphysema, Failure to thrive in infancy, Lymphopenia, Hemolytic anemia, Re... ORPHA:1572
Kasabach-Merritt Phenomenon
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Petechiae, Abnorma... ORPHA:2330
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Coarctation of aorta, A... OMIM:614857
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Scoliosis, Abnormal earlobe morphology, Umb... ORPHA:500159
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Abnormality of the autonomic n... OMIM:611376
Phenobarbital Embryopathy
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Malar flattening, Abnormal mitr... ORPHA:1919
Contractural Arachnodactyly, Congenital
Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve... OMIM:121050
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Pituitary adenoma, Striae distensae, Obesity, Increa... OMIM:219090
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Vertigo, Transient ischemic attack, Pseudopapilledema, Stroke, Intracranial ... ORPHA:140989
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia, ... ORPHA:2516
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Acute monocytic leukemia, Abnormal dense granule content, Abn... OMIM:601399
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Mitral regurgitation, Mitral va... OMIM:601776
Distal Deletion 15Q
Low-set ears, Small hand, Hearing impairment, Micrognathia, Genu valgum, Congenital diaphragmatic... ORPHA:1596
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, R... ORPHA:210122
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Respiratory distress, Pul... ORPHA:238459
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Respiratory distress, Splenomegaly, Stroke, Neutropenia, Thrombocy... ORPHA:79312
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Conductive hearing impa... ORPHA:2876
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Aspiration pneumonia, Anteverted nares, ... OMIM:616430
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Wrinkly Skin Syndrome
Low-set ears, Hypoplasia of the musculature, Carious teeth, Delayed cranial suture closure, Crypt... OMIM:278250
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Low-set ears, Rhizomelia, Depressed nasal bridge, Hearing impairment, Abnor... OMIM:614114
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ovarian cys... OMIM:188400
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Abnormal bleeding, Retrognathia, Dry skin, Pancytopenia, Splenomegaly, Death in in... OMIM:614576
Transaldolase Deficiency
Low-set ears, Depressed nasal bridge, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent fora... OMIM:606003
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Depressed nasal bridge, Retrognathia, Micrognathia, Ventricular septal defect, Atri... OMIM:618142
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... ORPHA:96170
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominen... OMIM:309520
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness of orbicularis oculi muscle, S... ORPHA:2596
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Aortic root aneurysm, ... ORPHA:363618
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Depressed nasal bridge, Cardiomyopathy, Respiratory distress, Anteverted ... OMIM:217980
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Mogs-Cdg
Optic atrophy, Retrognathia, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Se... ORPHA:79330
Maternal Phenylketonuria
Hypoplastic left heart, Hypoplastic helices, Wide nasal bridge, Tetralogy of Fallot, Abnormal hea... ORPHA:2209
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Aplasia... ORPHA:3186
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive hear... ORPHA:91130
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Warfarin-induced... ORPHA:745
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hearing impairment, Hypogonadism, Partial atrioventricular canal defect, ... OMIM:615996
Hellp Syndrome
Acute kidney injury, Hypotension, Poor wound healing, Microangiopathic hemolytic anemia, Decrease... ORPHA:244242
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Skeletal... OMIM:218000
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Tetralogy of Fallot, Abnormality of... ORPHA:2970
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Suleiman-El-Hattab Syndrome
Low-set ears, Wide nasal bridge, Microretrognathia, Hearing impairment, Overfolded helix, Cryptor... OMIM:618950
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ... ORPHA:740
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Wide nasal bridge, Small hand, Secundum atrial septal defect, Hearing impairment, Anteverted nare... OMIM:620455
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Bronchitis, Otitis media, Chronic sinusitis, Recurrent ... ORPHA:420741
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Petechiae, Sensorineural hearing imp... OMIM:605432
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Skeletal muscle atrophy, Subcutaneous hemorrhage, Cutis marmorata, Mi... ORPHA:109
Brucellosis
Arteritis, Hypersplenism, Weight loss, Glomerulonephritis, Purpura, Endocarditis, Pleural effusio... ORPHA:1304
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... ORPHA:101028
Cohen Syndrome
Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Dec... OMIM:216550
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol... OMIM:616276
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Aspergillosis
Pneumonia, Pleural effusion, Stroke, Eosinophilia, Hypersensitivity pneumonitis, Neutropenia, Int... ORPHA:1163
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Redundant ... ORPHA:2519
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... OMIM:218700
Arterial Tortuosity Syndrome
Aortic root aneurysm, Hip dislocation, Macrotia, Short nose, Hypertrophic cardiomyopathy, Vascula... ORPHA:3342
7Q31 Microdeletion Syndrome
Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Childhood onset sensorineural h... ORPHA:251061
Tetrasomy 5P
Low-set ears, Wide nasal bridge, Congestive heart failure, Respiratory distress, Anteverted nares... ORPHA:3309
Ogden Syndrome
Low-set ears, Cardiogenic shock, Microretrognathia, Underdeveloped nasal alae, Enlarged naris, De... ORPHA:276432
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Thanatophoric Dysplasia Type 2
Platyspondyly, Depressed nasal bridge, Kyphosis, Hearing impairment, Micromelia, Redundant skin, ... ORPHA:93274
3P25.3 Microdeletion Syndrome
Acromesomelia, Abnormality of the outer ear, Depressed nasal bridge, Scoliosis, Skeletal muscle a... ORPHA:435638
Mgat2-Cdg
Scoliosis, Prominent antihelix, Abnormal bleeding, Abnormal earlobe morphology, Kyphosis, Respira... ORPHA:79329
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Idiopathic Hypereosinophilic Syndrome
Angioedema, Cutis marmorata, Hepatosplenomegaly, Myocardial eosinophilic infiltration, Neutrophil... ORPHA:3260
Hydranencephaly
Atrophic pituitary gland, Dilatation of the ventricular cavity, Abnormal internal carotid artery ... ORPHA:2177
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Hemophilia B
Poor wound healing, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontane... ORPHA:98879
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Sensorineural hearin... ORPHA:290
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Scoliosis, Hearing impairment, Abnormal heart morphology, Recurrent otitis media, B... OMIM:618494
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Wide nasal bridge, Platyspondyly, Large fleshy ears, Hypertrophic cardiomyopathy, A... OMIM:616897
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retr... ORPHA:166272
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology ORPHA:401942
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Bruising susceptibility, Recurrent joint dislocation, Recurrent sinus... OMIM:130010
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Fg Syndrome Type 1
Facial wrinkling, Micrognathia, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impa... ORPHA:93932
Frontoocular Syndrome
Low-set ears, Coronal craniosynostosis, Micrognathia, Prominent nasal bridge, Atrial septal defec... OMIM:605321
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Mitral regurgitation, Mitral valve prolapse, Fragile sk... ORPHA:287
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Small hand, Cupped ear, Respiratory distress, Tricuspid regurgitation, Anteverted n... OMIM:612863
Cinca Syndrome
Joint dislocation, Hearing impairment, Abnormal joint morphology, Pseudopapilledema, Leukocytosis... ORPHA:1451
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Recombinant 8 Syndrome
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Hearing impairment, Camptodac... ORPHA:96167
Li-Ghorbani-Weisz-Hubshman Syndrome
Low-set ears, Depressed nasal bridge, Prominent nasal bridge, Ventricular septal defect, Atrial s... OMIM:618974
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Hearing impairment, ... OMIM:620157
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... ORPHA:99826
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Abnormality of the nose, Coarctation of the descending aortic... ORPHA:79321
Noonan Syndrome 8
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Cryptorchidism... OMIM:615355
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Branchial cyst, Retrognathia, Anteverted na... OMIM:615583
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Hypertrophic cardiomyopathy, Tetralogy o... ORPHA:251071
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Severe conductive hearing impairment, Poor wound healing, Genu valgum, Mitr... ORPHA:230851
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, Kyphosis, Abnormal lung lobation, Malar f... ORPHA:3378
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Fragile skin, Pulmonary bulla, Absent earlobe, Pulmonary b... OMIM:130050
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, Muscular ventricular septal ... OMIM:618569
Chromosome 1P36 Deletion Syndrome, Proximal
Low-set ears, Bifid nasal tip, Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery... OMIM:619343
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:610536
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Respiratory distress, Low-set, posteriorly rotated ears, N... ORPHA:990
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Contract... OMIM:300166
Diamond-Blackfan Anemia 10
Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hear... OMIM:613309
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Respiratory distress, Leukopenia, Stag... OMIM:251000
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Cyanos... ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Respiratory distress, Micrognathia, Death in infancy, Scol... OMIM:615042
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... ORPHA:231226
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Kyphoscoliosis, Atrial septal defect, Hydrocephalus,... OMIM:614846
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Enlargement of the ankles, Recurrent pneumonia, Acute myelomonocytic leukemia, Sec... ORPHA:99646
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fib... ORPHA:98915
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... OMIM:185070
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Respiratory ... ORPHA:209905
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Eales Disease
Epistaxis, Myelopathy, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic... ORPHA:40923
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Lower limb muscle weakness, Motor axonal neuropathy, Orthopnea, Vasculitis, H... ORPHA:365
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor, Ragged-red muscl... OMIM:613561
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Diaphragmatic even... OMIM:620025
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Micromelia, Tetralogy of Fallot, Low-set, posteriorly rotat... ORPHA:1908
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in... OMIM:617478
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Hearing impairment, Abnormal he... ORPHA:284169
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, Bi... ORPHA:254361
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Scoliosis, Abnormal cerebral vascular mo... ORPHA:758
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Micrognathia, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atr... OMIM:265380
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Distal shortening of limbs, Cryptorchidism, ... OMIM:146510
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia... OMIM:600376
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, ... ORPHA:238329
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Neonatal death, Death in adolescence, Pulmonary a... OMIM:619751
Granulomatosis With Polyangiitis
Sensorineural hearing impairment, Arrhythmia, Purpura, Abnormality of the hypothalamus-pituitary ... ORPHA:900
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Microretrognathia, Broad nasal tip, Low-set, posteriorly rotated ears, Prominent n... ORPHA:457193
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Horse... ORPHA:3097
Burn-Mckeown Syndrome
Choanal atresia, Conductive hearing impairment, Hearing impairment, Bilateral choanal atresia, Bi... OMIM:608572
Telangiectasia, Hereditary Hemorrhagic, Type 4
Nasal mucosa telangiectasia, High-output congestive heart failure, Arteriovenous fistulas of celi... OMIM:610655
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Bruising susceptibility, Mitral valve prola... ORPHA:230839
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Scoliosis OMIM:617055
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb... ORPHA:52
Meningioma
Lower limb muscle weakness, Increased circulating prolactin concentration, Neoplasm of the poster... ORPHA:2495
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Hypertrophic cardiomyopathy, Apnea, Death in infancy, Ventricular septal defe... OMIM:616277
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Bardet-Biedl Syndrome 16
Bronchiolitis, Hearing impairment, Respiratory distress, Recurrent otitis media, Hypogonadism, Re... OMIM:615993
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Wide nasal bridge, Cholelithiasis, Coronal craniosynostosis, Retrognathia, Pancreat... ORPHA:83617
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Right aortic arch, Situs inversus totalis, Chronic rhinitis, Hypothyr... OMIM:617577
Coffin-Siris Syndrome 6
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Retrognathi... OMIM:617808
Kanzaki Disease
Depressed nasal bridge, Vertigo, Dry skin, Petechiae, Axonal degeneration, Lacunar stroke, Periph... OMIM:609242
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Anemia, Recurrent lower respiratory tract i... OMIM:620321
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent otitis media, Dry skin, Micrognathia, Recurrent sinusitis, Eosinop... OMIM:618282
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Micrognathia, Scoliosis, Macrotia OMIM:300934
Hypomandibular Faciocranial Dysostosis
Low-set ears, Optic disc coloboma, Recurrent respiratory infections, Anteverted nares, Death in i... ORPHA:1790
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Low-set ears, Choanal atresia, Recurrent pneumonia, Cupped ear, Retrognathia, Optic disc coloboma... OMIM:300472
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Mitral regurgitation, Atrial septal defect, Tachycardia, Patent ductus arteri... ORPHA:505248
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Left ventricular hypertroph... ORPHA:251274
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Ab... OMIM:614399
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Anteverted nares, C... OMIM:612938
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Zechi-Ceide Syndrome
Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Wide nasal bridge, Condu... ORPHA:217017
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Poor wound healing, Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral val... ORPHA:1900
17Q23.1Q23.2 Microdeletion Syndrome
Depressed nasal bridge, Shallow acetabular fossae, Congenital contracture, Hearing impairment, Pa... ORPHA:261279
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility, Decreased compound muscle action potential amplitude, Distal lower limb ... OMIM:620080
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Th... OMIM:243500
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Short toe, Underdeveloped nasal alae, Recurrent o... OMIM:616651
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic ... ORPHA:508488
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Low-set ears, Aplasia/Hypoplasia of the earlobes, Precocious puberty, Wide nasal bridge, Abnormal... ORPHA:2637
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical hernia, Knee disloca... OMIM:618000
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... OMIM:617201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Depressed nasal bridge, Recurrent pneumonia, Aspiration pneumonia, Respiratory dist... ORPHA:314655
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Craniosynostosis, Intraventricular hemorrhage, Cutis marmorata ORPHA:401986
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Redundant neck skin, Neonatal death, Pulmonary arterial hypertension, Pulmonary h... OMIM:619003
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Decreased response to growth hormone stimulat... OMIM:618624
Shigellosis
Pneumonia, Hypovolemic shock, Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis,... ORPHA:810
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Retrognathia, Underdeveloped nasal alae, Large fleshy ears, Abnormal heart morpholo... OMIM:263210
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... OMIM:208050
Chikungunya
Neuritis, Epistaxis, Gingival bleeding, Erythema, Abnormal bleeding, Cervical lymphadenopathy, Pe... ORPHA:324625
Potocki-Lupski Syndrome
Dental malocclusion, Hearing impairment, Micrognathia, Patent foramen ovale, Prominent nasal tip,... OMIM:610883
Andersen-Tawil Syndrome
Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes... ORPHA:37553
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Hemorrhag... ORPHA:335
Cockayne Syndrome Type 3
Carious teeth, Aortic root aneurysm, Premature graying of hair, Peripheral axonal neuropathy, Opt... ORPHA:90324
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Mitral regurgitation, Ventricular septal defect, Abnormal nasal morpholog... ORPHA:83473
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Respi... OMIM:607143
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Smith-Magenis Syndrome
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Hearing impa... OMIM:182290
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia ORPHA:79284
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Arrhyt... ORPHA:509
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ren... ORPHA:1667
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent ... ORPHA:261311
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... ORPHA:231214
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Hypogon... ORPHA:254913
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Malar flattening, Death in infancy, At... ORPHA:93946
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Choanal atresia, Small hand, Wide nasal bridge, Depressed nasal bridge, Hearing imp... OMIM:300968
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Talipes valgus, Anteverted nares, Short columella, Mit... OMIM:615879
Gm1 Gangliosidosis
Low-set ears, Cherry red spot of the macula, Aspiration pneumonia, Hepatosplenomegaly, Ventricula... ORPHA:354
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps... OMIM:602782
Fumarase Deficiency
Optic atrophy, Depressed nasal bridge, Polycythemia, Anteverted nares, Pallor, Reduced subcutaneo... OMIM:606812
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive hea... OMIM:610198
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Retinal telan... ORPHA:774
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Recurrent upper respiratory tract infections, Congenital hip dislocation, Contract... ORPHA:3078
Tarp Syndrome
Hearing impairment, Extramedullary hematopoiesis, Micrognathia, Abnormal antihelix morphology, Cr... ORPHA:2886
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia ORPHA:3033
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Bulbous nose, Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage,... OMIM:616682
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Micrognathia, Knee flexion co... OMIM:617468
Noonan Syndrome 4
Low-set ears, Depressed nasal bridge, Scoliosis, Dental malocclusion, Abnormal bleeding, Bruising... OMIM:610733
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Abnormal heart morphology, Decreased testicular size, Prominent nose, Microgna... OMIM:300978
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Hearing impairment, Dilatation of the cerebral artery, Limb musc... OMIM:232300
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Wide nos... ORPHA:398156
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short... OMIM:269860
Thanatophoric Dysplasia Type 1
Platyspondyly, Depressed nasal bridge, Kyphosis, Hearing impairment, Micromelia, Redundant skin, ... ORPHA:1860
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Martsolf Syndrome 1
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Short toe, Card... OMIM:212720
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Mitral valve p... ORPHA:90653
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymph... OMIM:603554
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Splenome... ORPHA:77260
Noonan Syndrome 5
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Dry skin, Cryptorchidism, Cubi... OMIM:611553
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tach... ORPHA:70587
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type... OMIM:263000
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Low-set ears, Choanal atresia, Cupped ear, Retrognathia, Optic disc coloboma, Hearing impairment,... ORPHA:52055
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Hearing impairment, Short thumb, Abnormality of the nose, ... ORPHA:1708
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Neutropenia, Autoimmune ... OMIM:607944
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Abnormal mitral valve morphology, Sensorineu... ORPHA:192
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... ORPHA:93126
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi... OMIM:171300
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Ortho... ORPHA:563
Kabuki Syndrome 2
Low-set ears, Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Hearing impair... OMIM:300867
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi... ORPHA:85443
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ... OMIM:620011
Noonan Syndrome 13
Low-set ears, Wide nasal bridge, Bruising susceptibility, Recurrent otitis media, Dry skin, Antev... OMIM:619087
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Depressed nasal bridge, Umbilical hernia, Tetralogy of Fallot, Malar flattening, Pa... OMIM:612582
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Depressed nasal bridge, Secundum atrial septal defect, Hearing impairment, Bicuspid aortic valve,... OMIM:613355
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation ... OMIM:620210
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Kyphosis, Retrognathia, Bulbous nose, Micrognathia, Ve... OMIM:617061
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Short 5th finger, Short distal phalanx of finger, Wide nasal bridge,... OMIM:220500
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Elbow dislocation, Abnormal lung lobation, Low-set, posteriorly rotated ears, Campt... ORPHA:2631
16P12.1P12.3 Triplication Syndrome
Low-set ears, Short 5th finger, Retrognathia, Bilateral cryptorchidism, Abnormal heart morphology... ORPHA:485405
Aarskog-Scott Syndrome
Wide nasal bridge, Genu recurvatum, Hypoplasia of the maxilla, Small hand, Delayed eruption of te... ORPHA:915
3Mc Syndrome 2
Wide nasal bridge, Abnormal vertebral morphology, Hypoplasia of the musculature, Hearing impairme... OMIM:265050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Depressed nasal bridge, Micromelia, Respiratory distress, Short ribs, Ventricular s... OMIM:617895
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Retrognathia, Aortic dissection, Arterial tortuosity, Dilatation of the cer... OMIM:614816
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Underdeveloped nasal alae, Serrated incisors, Cryptorchidism, V... OMIM:272440
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... OMIM:616367
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... ORPHA:26793
Relapsing Polychondritis
Erythema, Abnormal pattern of respiration, Atelectasis, Vertigo, Large vessel vasculitis, Chondri... ORPHA:728
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Mitral va... OMIM:182212
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Cryptorchidism, Death ... OMIM:214100
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Umbilical hernia, Bulbous nose, Cryptorchidism, Patent foramen ovale, Ventricular s... ORPHA:329224
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy, Umbilical hernia OMIM:254120
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Delayed eruption of permanent teeth, Anteverted nares, Ventricular septal defect, P... OMIM:618506
Alpha-Thalassemia
Cholelithiasis, Hyperplasia of the maxilla, Congestive heart failure, Extramedullary hematopoiesi... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impai... OMIM:616974
Shprintzen-Goldberg Syndrome
Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Mitral regurgitation, Mitral valve pr... ORPHA:2462
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Protruding... OMIM:301039
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... OMIM:313900
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis m... ORPHA:48435
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura ORPHA:3204
Temple-Baraitser Syndrome
Short distal phalanx of finger, Depressed nasal bridge, Thick nasal alae, Short columella, Atrial... OMIM:611816
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Lymphadenopathy, Arthritis, Acrocyano... ORPHA:343
Cushing Disease
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Lymph... ORPHA:96253
Noonan Syndrome 2
Low-set ears, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bic... OMIM:605275
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Abnormal bleeding, Hearing impairment, Micrognathia, Patent foramen ovale, Ventricu... OMIM:208085
Ramos-Arroyo Syndrome
Depressed nasal bridge, Carious teeth, Respiratory distress, Anteverted nares, Aganglionic megaco... ORPHA:1051
Cutis Marmorata Telangiectatica Congenita
Scoliosis, Arteriovenous malformation, Subcutaneous hemorrhage, Arterial stenosis, Micrognathia, ... ORPHA:1556
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility OMIM:143850
Lateral Meningocele Syndrome
Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Bic... OMIM:130720
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Persistence ... OMIM:619769
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Cryptorchidism, Ventricular se... OMIM:617159
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Wide nasal bridge, Retrognathia, Hearing impairment, Prominent nasal bridge, Crypto... OMIM:617452
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Low-set ears, Precocious puberty, Conductive hearing impairment, Kyphosis, ... ORPHA:254346
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Joint dislocation, Bruising susceptibility, Umbilical hernia, Fragile skin, Pr... OMIM:617174
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Wide nasal bridge, Microretrognathia, Dilation of Virchow-Robin spaces, Contracture of the proxim... OMIM:300998
Acrocardiofacial Syndrome
Low-set ears, Wide nasal bridge, Joint dislocation, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regu... ORPHA:313892
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Cryptorchidism, Ventricular septal defec... OMIM:235510
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defe... OMIM:617506
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Angioedema, Abnormal heart valve morphology, Emphysema, Pleural effusion, Sple... ORPHA:36412
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, Atelectasis, Camptodactyly of finger, Narrow nasa... ORPHA:896
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Short tibia, Elbo... ORPHA:1106
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Reduced subcutaneous adipose tissue, Cryptorchidism, Neonatal death, ... OMIM:612289
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Abnorma... ORPHA:93262
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal pattern of respiration ORPHA:88619
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Low-set ears, Abnormal vertebral morphology, Hearing impairment, Prominent... ORPHA:536471
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t... OMIM:619773
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Congestive heart failur... OMIM:608328
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Reduced natural killer cell count, Failure to thrive, Cerebral vasculitis, D... OMIM:243700
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Micromelia, Umbilical hernia, Low-set, posteriorly rotated ears,... ORPHA:1035
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mitral valve prolapse, Narrow vertebral interpedicular ... OMIM:601216
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Dry skin, Ventricular septal defect, Uplifted earlobe, Acute lymph... OMIM:280000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Anteverted nares, Posterior pituitary hypoplasia, Ventricular septal defe... ORPHA:75389
Benign Schwannoma
Nasal polyposis, Peripheral schwannoma, Vertigo, Schwannoma, Vestibular schwannoma, Abnormal cran... ORPHA:252164
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Poor wound healing, Increased circulating cortisol level, Abnormal lym... ORPHA:99889
Aicardi Syndrome
Precocious puberty, Optic atrophy, Recurrent pneumonia, Block vertebrae, Optic disc coloboma, Ant... OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Anteverted nares, Pr... OMIM:617751
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Noonan Syndrome 10
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Mitral valve p... OMIM:616564
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Large placenta, Cryptorchidi... ORPHA:96334
Shashi-Pena Syndrome
Low-set ears, Broad nasal tip, Dilation of Virchow-Robin spaces, Retrognathia, Cupped ear, Kyphos... OMIM:617190
Hypoglossia With Situs Inversus
Low-set ears, Polysplenia, Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia OMIM:612776
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aor... ORPHA:261494
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death i... OMIM:614299
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diaphragmatic he... OMIM:618454
Genitopatellar Syndrome
Low-set ears, Delayed eruption of teeth, Hearing impairment, Prominent nose, Micrognathia, Apnea,... ORPHA:85201
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra... OMIM:617194
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Camptodactyly of finger, Cryptorchid... OMIM:300963
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hearing... ORPHA:207
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Petechiae, B lympho... OMIM:620133
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Decreased muscle mass, Hearing abnormality, Kyphoscolio... OMIM:616507
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Cutis Laxa, Autosomal Recessive, Type Iid
Low-set ears, Narrow naris, Reduced subcutaneous adipose tissue, Atrial septal defect, Hip disloc... OMIM:617403
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:99901
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Intellectual Disability-Strabismus Syndrome
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Recurren... ORPHA:363528
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Bilateral trilobed lung,... OMIM:613630
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter... ORPHA:1145
De Barsy Syndrome
Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Excessive wrinkled... ORPHA:2962
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Hearing impairment, Respiratory distress, Situs inversus totalis, Otitis media, ... OMIM:606763
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Short toe, Malar flattening, Cryptorchidism, Sensorineural hearing... ORPHA:921
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ... OMIM:619142
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Broad columella, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Abnormali... ORPHA:166035
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo... OMIM:619055
Atelosteogenesis, Type Ii
Platyspondyly, Depressed nasal bridge, Cervical kyphosis, Micromelia, Lacunar halos around chondr... OMIM:256050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Recurrent otitis media, Genu valgum, Cryptorchidism, Ventricular ... ORPHA:261552
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Bilateral elbow dis... OMIM:166300
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Enlarged vertebral pedicles, Cryptorchid... OMIM:139210
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short distal phalanx of finger, Anteverted nares, Micrognathia, Atrial septal... OMIM:619356
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Micrognathia, Ventricular septal defect, Atrial septal defect, Patellar dislocation... OMIM:620663
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Protruding ear, Optic atrophy, Hypoplasia of the maxilla, Bulbous nose OMIM:618737
Isolated Klippel-Feil Syndrome
Hearing impairment, Abnormal cranial nerve morphology, Congenital muscular torticollis, Ventricul... ORPHA:2345
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Narrow naris, Biventricular hypertrophy, Reduced subcutaneous adipose tissue, Mitra... OMIM:617402
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Respiratory distress, Penile hyposp... OMIM:300219
Fryns Syndrome
Wide nasal bridge, Abnormal aortic arch morphology, Short distal phalanx of finger, Tetralogy of ... ORPHA:2059
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Primary Sjögren Syndrome
Arteritis, Dry skin, Cutis marmorata, Lymphopenia, Decreased proportion of CD4-positive helper T ... ORPHA:289390
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Cryptorchidism, Prominent nasal tip, Short metacarpal, Short no... ORPHA:439822
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Depressed nasal bridge, Respiratory distress, Hyp... OMIM:604377
Phace Association
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual t... OMIM:606519
Scorpion Envenomation
Erythema, Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Conges... ORPHA:466677
Aicardi Syndrome
Precocious puberty, Optic atrophy, Small hand, Block vertebrae, Optic disc coloboma, Butterfly ve... ORPHA:50
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Depressed nasal tip, Mitral regurgitation, Patent foramen ovale, Camp... ORPHA:88630
Musculocontractural Ehlers-Danlos Syndrome
Hearing impairment, Decreased muscle mass, Recurrent joint dislocation, Cryptorchidism, Myopathy,... ORPHA:2953
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Orofaciodigital Syndrome Xiv
Low-set ears, Microretrognathia, Natal tooth, Occipital encephalocele, Optic disc coloboma, Micro... OMIM:615948
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Retrognathia, Decreased muscle mass, Bruising susceptibility, Prominent nas... OMIM:615582
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Esophageal Atresia
Abnormal vertebral morphology, Choanal atresia, Hearing impairment, Bronchitis, Respiratory distr... ORPHA:1199
Complement Component 2 Deficiency
Purpura OMIM:217000
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Depressed nasal bridge, Small hand, Hearing impairment, Bulbous nose, Cutis mar... OMIM:610759
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cryptorchidism, Ventricula... OMIM:618067
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis... OMIM:615508
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Choanal atresia, Depressed nasal bridge, Hypop... ORPHA:1555
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Cutis marmorata, Microgna... ORPHA:96121
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Odontochondrodysplasia 1
Platyspondyly, Dentinogenesis imperfecta, Genu recurvatum, Biconvex vertebral bodies, Delayed eru... OMIM:184260
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Abnormal cerebral vascular morphology, Bruising susceptibility... ORPHA:3318
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Endo... OMIM:212140
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Depressed nasal bridge, Rhizomelia, Kyphosis, Hearing impairment, Congestive heart... OMIM:616482
Fanconi Anemia, Complementation Group B
Low-set ears, Bilateral radial aplasia, Abnormal vertebral morphology, Absent thumb, Aplastic ane... OMIM:300514
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Hydrocephalus, Optic disc pallor, Intracranial hemorrhage, Increa... ORPHA:447788
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Decrease... OMIM:615368
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop... OMIM:620654
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Choanal atresia, Delayed eruption of teeth, Hearing impairment, Short thumb, M... OMIM:619148
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Micrognathi... OMIM:619326
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria, ... OMIM:603585
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Ecchymosis, Neu... OMIM:614075
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... ORPHA:403
Stevenson-Carey Syndrome
Low-set ears, Joint contracture of the hand, Underdeveloped nasal alae, Central hypoventilation, ... OMIM:611961
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Hematochezia, Cervical lymphaden... OMIM:617718
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Optic atrophy, Erythema, Skin ulcer, Angioedema, Vascula... ORPHA:761
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Aplasia/Hypoplasia invo... ORPHA:1529
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Keutel Syndrome
Hearing impairment, Recurrent otitis media, Recurrent bronchitis, Ventricular septal defect, Shor... OMIM:245150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Depressed nasal bridge, Respiratory distress, Atrioventricular canal defect, Spleno... OMIM:617088
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Retrognathia, Hearing impairment, Aplasia/Hypoplasia of the external ear, Prominent... ORPHA:505237
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ... OMIM:620233
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autono... ORPHA:83601
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Micrognathia, Uplifted earlobe, Patent ductus art... OMIM:617746
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon... ORPHA:60033
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Hepatosplenomegaly, Micrognathia, Mi... OMIM:614866
Tularemia
Pneumonia, Respiratory distress, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpho... ORPHA:3392
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Amyoplas... OMIM:312150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Arthrogryposis-like hand anomaly, Wide nasal bridge, Depressed nasal bridge, Hearin... ORPHA:369891
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Camptodactyly o... OMIM:616920
Noonan Syndrome 3
Low-set ears, Hypoplastic nasal bridge, Bruising susceptibility, Juvenile myelomonocytic leukemia... OMIM:609942
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Conductive hearing impairment, Absent thumb, Short 1st metacarpal, S... OMIM:609053
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Micrognathia, Rhabd... OMIM:614921
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Cryptorchidism, Death in infancy, Ventricular septal defect, Aganglionic megacolon,... ORPHA:452
Mosaic Trisomy 9
Low-set ears, Hip dislocation, Micromelia, Elbow dislocation, Camptodactyly of finger, Abnormal h... ORPHA:99776
Trisomy 8P
Abnormal middle ear morphology, Cryptorchidism, Dysplastic aortic valve, Short nose, Short 1st me... ORPHA:264450
19P13.3 Microduplication Syndrome
Low-set ears, Precocious puberty, Underdeveloped nasal alae, Prominent nose, Micrognathia, Ventri... ORPHA:447980
Bohring-Opitz Syndrome
Low-set ears, Supernumerary nipple, Micrognathia, Delayed peripheral myelination, Ventricular sep... OMIM:605039
Woods Syndrome
Wide nasal bridge, Optic atrophy, Supernumerary nipple, Limited elbow extension, Ventricular sept... OMIM:615236
Noonan Syndrome
Abnormality of the spleen, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Radiou... ORPHA:648
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Wiedemann-Steiner Syndrome
Low-set ears, Short 5th finger, Small hand, Broad nasal tip, Wide nasal bridge, Short toe, Recurr... OMIM:605130
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Wide nasal bridge, Anisospondyly, Micromelia, Abnormal heart morphology, Pterygium,... ORPHA:1865
Dysosteosclerosis
Platyspondyly, Optic atrophy, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impai... ORPHA:1782
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Aortic root aneurysm, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, M... OMIM:245600
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating ... ORPHA:404
Fabry Disease
Hearing impairment, Angiokeratoma, Mitral regurgitation, Sensorineural hearing impairment, Arrhyt... ORPHA:324
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Short thumb, Underdeveloped n... ORPHA:436003
Zttk Syndrome
Aortic regurgitation, Optic atrophy, Hypoplasia of the maxilla, Low-set ears, Small hand, Wide na... OMIM:617140
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Seckel Syndrome 9
Pulmonary artery hypoplasia, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:616777
Neonatal Marfan Syndrome
Low-set ears, Abnormal cardiac ventricle morphology, Crumpled ear, Wide nasal bridge, Aortic root... ORPHA:284979
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Dextrotranspo... OMIM:619995
Atrial Septal Defect, Coronary Sinus Type
Arrhythmia, Unroofed coronary sinus, Abnormally loud pulmonic component of the second heart sound... ORPHA:99104
Cat Eye Syndrome
Hypoplastic left heart, Low-set ears, Total anomalous pulmonary venous return, Hearing impairment... OMIM:115470
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... OMIM:618280
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Aplasia of the proximal phalanges of the hand, Microgn... ORPHA:2256
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect, Failur... OMIM:617744
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
Moebius Syndrome
Depressed nasal bridge, Respiratory distress, Congenital fibrosis of extraocular muscles, Aplasia... OMIM:157900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Depressed nasal bridge, Mild hearing impairment,... ORPHA:459061
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Micrognathia, Atrial septal defect, Hip dislocation, ... ORPHA:96148
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Bidirectional ventricular ectopy, Micrognathia, Short foot, Short metac... OMIM:170390
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... ORPHA:268882
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Desbuquois Syndrome
Genu recurvatum, Depressed nasal bridge, Small hand, Elbow dislocation, Camptodactyly of finger, ... ORPHA:1425
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Wide nasal bridge, Rhizomelia, Platyspondyly, Micrognathia, Ventricular septal defect ORPHA:93267
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Underdevelo... OMIM:192430
Opitz Gbbb Syndrome
Low-set ears, Natal tooth, Aortic root aneurysm, Hearing impairment, Micrognathia, Congenital dia... ORPHA:2745
Char Syndrome
Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Supernumerary nipple, Persiste... ORPHA:46627
Immunodeficiency 9
Failure to thrive, Lymphopenia, Death in infancy, Hypoplasia of the thymus, Ectodermal dysplasia,... OMIM:612782
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Large earlobe, Cutis marmorata, Ventricular septal defect, Hydrocephalus,... OMIM:602501
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Abnormal helix morphology, Hearing impairment, Underdeveloped nasal alae, Abno... ORPHA:453499
Schuurs-Hoeijmakers Syndrome
Low-set ears, Bulbous nose, Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Abnormal... OMIM:615009
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, M... ORPHA:79328
Adams-Oliver Syndrome 6
Renal hypoplasia, Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Splenomegaly, Ve... OMIM:616589
Developmental And Epileptic Encephalopathy 90
Ankle clonus, Apneic episodes in infancy, Hypothyroidism, Limb hypertonia, Atrial septal defect OMIM:301058
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Popliteal pterygium, Hearing abno... ORPHA:2990
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Tetralogy of Fallot, Microgna... ORPHA:2077
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Ventricular septal defect, Neonatal death, Ectopic kidney, Cyst... OMIM:613730
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension, Weight loss, Bronchie... ORPHA:1164
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia ORPHA:721
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Atrioventricular canal def... ORPHA:2549
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Broad nasal tip, Retrognathia, Respiratory distress, Abnormal heart mo... ORPHA:177907
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr... OMIM:619656
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Low-set ears, Broad nasal tip, Bil... OMIM:619542
Trigonocephaly With Short Stature And Developmental Delay
Low-set ears, Wide nasal bridge, Lambdoidal craniosynostosis, Ventricular septal defect, Sagittal... OMIM:314320
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... OMIM:618619
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Res... ORPHA:79282
Holoprosencephaly
Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal antihelix morphology, Ventri... ORPHA:2162
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Atrioventricular canal defect, Short humerus, Neonatal death, Pers... OMIM:314390
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Short hallux, Broad nasal tip, Ventricular septal defect OMIM:620393
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Scoliosis, Hearing impairment, Thoracic hemivertebrae, Genu valgum, Bicus... OMIM:619721
Robinow Syndrome
Low-set ears, Flared nostrils, Micrognathia, Marked delay in eruption of permanent teeth, Cryptor... ORPHA:97360
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Hip dislocation, Retrognathia, Kyphoscoliosis, Limb undergrowth, Hypothyroidis... OMIM:618005
Codas Syndrome
Depressed nasal bridge, Crumpled ear, Congenital hip dislocation, Delayed eruption of teeth, Abno... ORPHA:1458
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Wide nasal bridge, Rhizomelia, Short thumb, Micrognathia, Patent foramen ovale,... OMIM:618821
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Arthrogryposis mult... OMIM:616531
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Amyoplas... OMIM:253290
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Flared nostrils, Wide nasal bridge, Congenital hip dislocation, Prominent nose, Mic... OMIM:609625
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Short distal phalanx of finger, Choanal atresia, Branchial fistula, Abnorma... ORPHA:261330
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Myelomeningocele, Micrognathia, Hypoplast... ORPHA:2437
Insulin-Like Growth Factor I, Resistance To
Low-set ears, Wide nasal bridge, Small hand, Retrognathia, Short finger, Micrognathia, Reduced su... OMIM:270450
Even-Plus Syndrome
Depressed nasal ridge, Bifid nasal tip, Patent foramen ovale, Vertebral clefting, Atrial septal d... OMIM:616854
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Microretrognathia, Bulbous nose, Anteverted nares, Redundant neck ... OMIM:236500
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Choanal atresia, Hearing impairment, Abnormal heart morphology, Low-set, posterior... ORPHA:494344
Familial Exudative Vitreoretinopathy
Hearing impairment, Abnormal optic disc morphology, Vitreous hemorrhage, Retinal neovascularizati... ORPHA:891
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Depressed nasal ridge, Muscular dystrophy, Hearing impairment, Abnormal lun... ORPHA:1052
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hearing impairment, Bruising susceptibility, Apnea, Abnormal pulmonary... ORPHA:667
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory distress, Myopathy, Weakness of facial ... ORPHA:254875
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricu... OMIM:300373
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Renal insufficiency, Spontaneou... ORPHA:182050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Hypertension, Sc... OMIM:235400
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hip dislocation, Occipital encephalocele, Micromelia, Micrognathia, Death... OMIM:241800
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexio... ORPHA:70
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
Koolen-De Vries Syndrome
Hip dislocation, Aortic root aneurysm, Kyphosis, Macrotia, Dry skin, Bulbous nose, Prominent nasa... OMIM:610443
Alzahrani-Kuwahara Syndrome
Low-set ears, Coronary sinus enlargement, Hearing impairment, Dry skin, Bulbous nose, Micrognathi... OMIM:619268
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... OMIM:610168
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se... OMIM:113000
Meckel Syndrome 14
Low-set ears, Microretrognathia, Occipital encephalocele, Retrognathia, Tricuspid regurgitation, ... OMIM:619879
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hepatosplenomegaly, Microgn... ORPHA:763
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Abnormality of the temporomandibular joint, Absent muscle fib... ORPHA:258
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Broad nasal tip, Hypoplastic ... OMIM:616364
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Malar flattening, ... ORPHA:94066
Menkes Disease
Wormian bones, Intracranial hemorrhage, Cutis laxa, Death in childhood OMIM:309400
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, De... OMIM:175700
Kapur-Toriello Syndrome
Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Short thumb, Camptoda... OMIM:244300
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Hearing impairment,... OMIM:616894
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pulmonary arterial hypertension, Pneumot... ORPHA:70588
Medulloblastoma
Delayed cranial suture closure, Vertigo, Abnormal cranial nerve morphology, Cerebellar hemorrhage... ORPHA:616
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Carpal synostosis, Fibular aplasia, Micrognathia, Hepatosplenomegaly, Patellar apl... OMIM:274000
Kawasaki Disease
Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de... ORPHA:2331
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Recurrent pneumonia, Retrognathia, Anteverted nares, Ventricular septal defect, Pul... OMIM:616449
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... ORPHA:2357
Doors Syndrome
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Aspiration pneumonia, Adre... ORPHA:79500
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial ... OMIM:123700
Auriculocondylar Syndrome
Mandibular condyle aplasia, Abnormality of the crus of the helix, Dental malocclusion, Hearing im... ORPHA:137888
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Poor wound healing, Persistent open anterior fontanelle, Facial hypotonia, Mitral regurgitation, ... OMIM:615539
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Respiratory distress, ... ORPHA:367
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Biventricular hypertrophy, Recurrent otitis media, Micrognathia... OMIM:616462
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... OMIM:155100
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy... ORPHA:75249
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormality of the spleen, Si... ORPHA:991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Exertional dyspnea, Hyperlordosi... OMIM:615156
ERI1-related disease
Low-set ears, Depressed nasal bridge, Platyspondyly, Conductive hearing impairment, Tricuspid reg... OMIM:608739
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Urinary retention, Skin ulcer... ORPHA:90307
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern... OMIM:154400
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Antev... OMIM:248700
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br... ORPHA:85279
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Multiple suture craniosynostosis, Low-set, posteriorly rotated ears, Ventricul... ORPHA:3369
Seizures-Scoliosis-Macrocephaly Syndrome
Abnormality of the outer ear, Bulbous nose, Cryptorchidism, Atrial septal defect, Scoliosis ORPHA:466926
Coffin-Siris Syndrome 7
Low-set ears, Depressed nasal bridge, Hearing impairment, Recurrent otitis media, Thick nasal ala... OMIM:618027
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Emp... OMIM:242700
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, Conductive hearing impairment, Atresia of the external a... ORPHA:2789
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Hearing impairment, Recurrent otitis media, Cryptorchidism, Atrial ... ORPHA:2728
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Abnormal mandible mo... ORPHA:83451
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive, Congestive heart failure, Atrial septal defect, Diabetes ins... ORPHA:500533
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short 5th metacarpa... OMIM:156510
Mosaic Trisomy 1
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Camptodactyly of fing... ORPHA:1692
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage OMIM:301081
Monosomy 13Q34
Hematochezia, Epistaxis, Broad nasal tip, Abnormal earlobe morphology, Prominent nose, Micrognath... ORPHA:96168
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... ORPHA:95716
Chromosome 14Q11-Q22 Deletion Syndrome
Low-set ears, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Elevated circulating thyr... OMIM:613457
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Micrognathia, Cryptorchidism, ... ORPHA:1507
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Oroticaciduria, Ventricular septal d... OMIM:258900
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Depressed nasal bridge, Congenital hip dislocation, Carious teeth, Anteverted nares... OMIM:244450
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Redundant skin, Congenital diaphragmatic hernia, Flex... ORPHA:171719
Menkes Disease
Gastrointestinal hemorrhage, Chondrocalcinosis, Spontaneous hematomas, Umbilical hernia, Dry skin... ORPHA:565
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypert... OMIM:612387
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Low-set ears, Hypoplasia of the maxilla, Small hand, Wide nasal bridge, Bul... OMIM:609460
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Supernumerary nipple, Recurrent otiti... OMIM:213980
Pseudotrisomy 13 Syndrome
Low-set ears, 11 pairs of ribs, Complete atrioventricular canal defect, Encephalocele, Ventricula... OMIM:264480
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia, Abnormal hear... OMIM:601499
Nelson Syndrome
Increased circulating cortisol level, Lower limb muscle weakness, Increased circulating prolactin... ORPHA:199244
Holoprosencephaly 14
Low-set ears, Alobar holoprosencephaly, Proboscis, Anteverted nares, Ventricular septal defect, D... OMIM:619895
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Atelectasis, Hepatosplenomegaly, Leukocytosis, Death ... OMIM:618278
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Dea... OMIM:211530
Lethal Recessive Chondrodysplasia
Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Macrog... ORPHA:1423
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Umbilical... ORPHA:226313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Low-set ears, Depressed nasal bridge, Dilation of Virchow-Robin spaces, Underdeveloped nasal alae... OMIM:619720
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Kyphosis, Antevert... ORPHA:261250
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal form of the vertebral bodies, Respirat... ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele... OMIM:253800
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... OMIM:605809
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... ORPHA:99106
Apert Syndrome
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Delayed... ORPHA:87
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericardial effus... ORPHA:411703
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Abnormal location of ... OMIM:218350
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Conductive hearing impairment, Atelectasis, ... OMIM:244400
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Low-set ears, Wide nasal bridge, Scoliosis, Conductive hearing impairment,... ORPHA:2780
Lambotte Syndrome
Semilobar holoprosencephaly, Atresia of the external auditory canal, Retrognathia, Ventricular se... OMIM:245552
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Cryptorchidism, An... OMIM:610829
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Leukopenia, Pleural effusion, Leukocytosis, ... ORPHA:36238
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasin... OMIM:101800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint subluxation, Poor wound healing, Contracture of the proximal interphalangeal joint of the 2... OMIM:130060
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lympha... ORPHA:538
Zellweger Syndrome
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Micrognathia, Primary adrenal insuffici... ORPHA:912
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Nasal congestion, Recurrent otitis media, Situs inversus totalis, Chronic sinusi... OMIM:616037
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Cutis marmorata, Ventri... OMIM:613398
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Low-set ears, Depressed nasal bridge, Natal tooth, Micrognathia, Death in childhood, Death in inf... OMIM:616901
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Cardiofaciocutaneous Syndrome
Optic atrophy, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrotia, Hypertrophic c... ORPHA:1340
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Cupped ear, Large fleshy ea... OMIM:614080
Toriello-Carey Syndrome
Low-set ears, Wide anterior fontanel, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, An... ORPHA:3338
Craniofacioskeletal Syndrome
Interrupted aortic arch, Choanal atresia, Small hand, Micrognathia, Absent gallbladder, Cryptorch... OMIM:300712
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... OMIM:618462
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization, Retinal arteriolar occlusion, Retinal arteriolar... OMIM:193220
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, Anteverted nares, Co... OMIM:612530
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Retrognathia, Bulbous nose, Patent foramen ovale, Ventricular septal defect, Short ... OMIM:620113
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinus... OMIM:300455
C Syndrome
Low-set ears, Wide nasal bridge, Hip dislocation, Micromelia, Anteverted nares, Micrognathia, Cry... OMIM:211750
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Lumbar hyperlordosis, M... OMIM:277600
Nestor-Guillermo Progeria Syndrome
Dry skin, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, A... OMIM:614008
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def... OMIM:105650
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... ORPHA:1488
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Choanal atresia, Depressed nasal bridge, Natal tooth, Atresia of the external audi... OMIM:123790
Ataxia-Telangiectasia
Female hypogonadism, Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Coffin-Siris Syndrome
Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,... ORPHA:1465
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Poor wound healing, Bruising susceptibility, Arterial rupture, Recurrent joint dislocation, Atria... OMIM:619115
Tuberous Sclerosis Complex
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Cardi... ORPHA:805
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Streak ovary... ORPHA:798
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Recurrent pneumonia, Cholelithiasis, Retrognathia, Anteverted nares, Contracture of... ORPHA:464738
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Depressed nasal bridge, Bulbous nose, Cryptorchidism, Patent foramen ovale, Transpo... OMIM:616789
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Foam cells, Tachypnea, Acute infectious pneumonia, Ta... ORPHA:264675
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia, Cutis laxa, Hip dislocation OMIM:614100
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig... OMIM:254210
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Contractures of the large joints, Respiratory distress, Micro... ORPHA:329178
Radio-Tartaglia Syndrome
Low-set ears, Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Conductive hearing i... OMIM:619312
Pelger-Huet Anomaly
Depressed nasal bridge, Short 3rd metacarpal, Giant platelets, Umbilical hernia, Recurrent otitis... OMIM:169400
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcu... ORPHA:394
Zygomycosis
Abnormal cranial nerve morphology, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastroi... ORPHA:73263
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Bruising susceptibility, Arterial rupture, Myopathy, Sensorineural heari... ORPHA:300179
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Retrognathia, Bruising susceptibility, Progeroid facial appearance, Narrow ... OMIM:616914
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hearing impairment, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory ... ORPHA:308552
Meier-Gorlin Syndrome 7
Low-set ears, Choanal atresia, Pulmonary hypoplasia, Second degree atrioventricular block, Hearin... OMIM:617063
Stuve-Wiedemann Syndrome 1
Low-set ears, Wide nasal base, Carious teeth, Short tibia, Micrognathia, Short nose, Ovoid verteb... OMIM:601559
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... ORPHA:3299
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Micrognathia, Neonatal death, Atrial septal defect, Patent ductus arte... OMIM:275210
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Hearing impairment, Aga... OMIM:614749
Coffin-Siris Syndrome 4
Short 5th finger, Macroglossia, Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Mi... OMIM:614609
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Depressed nasal bridge, Joint contracture of the hand, Dental malocclusion, Delaye... OMIM:612350
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... OMIM:603467
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... ORPHA:51608
Double Outlet Left Ventricle
Failure to thrive, Cyanosis, Cryptorchidism, Abnormal right ventricular function, Ventricular sep... ORPHA:3427
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Depressed nasal bridge, Thick nasal alae, Atrial septal defect, W... OMIM:616938
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Cryptorchidism, Ventricular septal defect... OMIM:607872
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia, Macrotia ORPHA:93950
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Skin ulcer, Delayed eruption of teeth, Generalized abnormality of skin, Atelec... ORPHA:2314
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the exter... OMIM:106260
Zaki Syndrome
Wide nasal bridge, Cupped ear, Anteverted nares, Micrognathia, Hypoplasia of the phalanges of the... OMIM:619648
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Micromelia, Micrognathia, Malar flattening... OMIM:215045
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Tyshchenko Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defe... OMIM:615102
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Cryptorchidism,... OMIM:258315
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Micrognathia, Ventricular septal defect, Long nose, Low hangi... OMIM:613680
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Retrognathia, Umbilical hernia, Micrognathia, Joint contracture of the 5th finger, Pa... OMIM:618914
Duane-Radial Ray Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ... OMIM:607323
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Superficial Siderosis
Anosmia, Partial anosmia, Arteriovenous malformation, Abnormal bleeding, Lower limb muscle weakne... ORPHA:247245
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Micrognathia, Cryptorchidism, ... ORPHA:536532
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia, Polysplenia, Stage 5 chronic kidney disease, Portal ... OMIM:208540
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Progeroid facial appearance, ... OMIM:608154
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Abnormal earlobe morphology, Abnormal lung loba... ORPHA:141127
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Bruising susceptibility, Vascular tortuosity, Decreased muscle mass, ... OMIM:612940
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Death in childhood, Weakness of... OMIM:220110
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Broad nasal tip, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Hypo... ORPHA:3306
Chops Syndrome
Optic atrophy, Hearing impairment, Aspiration pneumonia, Anteverted nares, Cryptorchidism, Patent... OMIM:616368
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Alazami Syndrome
Low-set ears, Cutis marmorata, Malar flattening, Atrial septal defect, Scoliosis, Wide nose ORPHA:319671
Megalencephaly
Atrial septal defect ORPHA:2477
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Saethre-Chotzen Syndrome
Low-set ears, Hearing impairment, Prominent crus of helix, Delayed cranial suture closure, Abnorm... ORPHA:794
Abeta Amyloidosis, Dutch Type
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Parotitis, Urticaria, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Sma... OMIM:620376
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Annular pancreas, Bruising susceptibility, Elbow contracture, Ulna... OMIM:618162
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Aspiration p... ORPHA:444077
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
3Mc Syndrome 1
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Conductive hearing impai... OMIM:257920
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Microretrognathia, Camptodact... ORPHA:261344
Otodental Syndrome
Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth, Abnormal molar morphol... ORPHA:2791
Congenital Enterovirus Infection
Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Leukopenia, Pleural effusio... ORPHA:292
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regurgitation, Mi... ORPHA:2556
8Q22.1 Microdeletion Syndrome
Low-set ears, Depressed nasal ridge, Hypoplasia of the maxilla, Wide nasal bridge, Camptodactyly ... ORPHA:178303
Lambert Syndrome
Jaundice, Branchial anomaly, Malar flattening, Ventricular septal defect ORPHA:1296
Fliedner-Zweier Syndrome
Bulbous nose, Ventricular septal defect, Bicuspid aortic valve, Meningocele, Hypoplastic aortic a... OMIM:620511
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasia of the na... OMIM:601812
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Tachypnea, Atelectasis, Respiratory distress OMIM:267450
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Goiter, Respiratory distress, Abnormal skeletal muscle morphology, Nodu... ORPHA:142
Cardiofaciocutaneous Syndrome 1
Low-set ears, Depressed nasal bridge, Dental malocclusion, Hearing impairment, Hypertrophic cardi... OMIM:115150
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Noonan Syndrome 1
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Cryptorchidism, Ventricular septal defe... OMIM:163950
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... ORPHA:97287
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im... ORPHA:500
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... ORPHA:2316
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Cryptorchid... ORPHA:261337
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Skin ulcer, Congestive heart failur... ORPHA:727
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe... OMIM:300534
Ferguson-Bonni Neurodevelopmental Syndrome
Hearing impairment, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragmat... OMIM:619699
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... OMIM:123500
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Anteverted nares, Aortic valve prolapse, Ventricular septal defect... OMIM:619980
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Mitral regurgitation, Intervertebral disk degeneration, Knee osteoarth... ORPHA:284984
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Macrotia ORPHA:261304
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Hypoplastic nasal bridge, Retrognathia, Dry skin, Left ventricular hypertrophy, Atrial ... OMIM:620510
Smith-Lemli-Opitz Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Ventricul... OMIM:270400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Depressed nasal bridge, Pulmonary hypoplasia, Natal tooth, Short tibia, Tetralogy o... OMIM:617925
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Bilateral choanal at... ORPHA:314679
Sponastrime Dysplasia
Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bone, Hypoplasia of the nasal bone, ... ORPHA:93357
Jacobsen Syndrome
Low-set ears, Optic atrophy, Depressed nasal bridge, Annular pancreas, Recurrent respiratory infe... OMIM:147791
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Absent nipple, Micrognathia, Bilateral lung agenesis, Amelia, Ve... OMIM:618021
8P11.2 Deletion Syndrome
Anosmia, Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge, Hypogonadism, Mi... ORPHA:251066
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar... ORPHA:99103
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Abnormal nasal bo... ORPHA:521308
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Sen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Sen... ORPHA:352665
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recurrent otitis med... OMIM:150230
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Dry skin, Reduced subcutaneous ad... ORPHA:769
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Trident pelvis, Ventricular septal defect, Kyphoscoliosis,... OMIM:614815
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, S... OMIM:207410
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Ventricular septal defect, Pulmonary edema, Polycystic ovaries, T... ORPHA:137675
Hamamy Syndrome
Low-set ears, Wide nasal bridge, Hypochromic anemia, Dental malocclusion, Neck pterygia, Microcyt... OMIM:611174
Joubert Syndrome 3
Low-set ears, Wide nasal bridge, Episodic tachypnea, Anteverted nares, Central apnea, Atrial sept... OMIM:608629
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Split-Hand/Foot Malformation 3
Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Abnormal pinna morphology OMIM:246560
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Rhizomelia, Abnormal bleeding, Congestive heart failure, Respiratory distres... OMIM:616271
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Achondroplasia
Depressed nasal bridge, Rhizomelia, Conductive hearing impairment, Respiratory distress, Recurren... OMIM:100800
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septa... ORPHA:818
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Sensorineural hearing ... ORPHA:2143
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Cryptorchi... ORPHA:3310
Jansen-De Vries Syndrome
Low-set ears, Small hand, Anteverted nares, Ventricular septal defect, Bicuspid aortic valve, Hyp... OMIM:617450
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Low-set ears, Congenital hip dislocation, Carious teeth, Broad nasal tip, Prominent veins on trun... ORPHA:357074
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:616913
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair OMIM:277175
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:613554
Marfan Syndrome
Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Limited elbow mo... ORPHA:558
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Micrognathia, Cryptorchidism, Ventricular septal def... OMIM:256520
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidi... OMIM:620005
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Optic atrophy, Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Dilatio... OMIM:619512
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Tetralogy of Fallot, Anteverted nares, Mic... OMIM:222765
Acrodysostosis
Hearing impairment, Cryptorchidism, Genu varum, Short metacarpal, Short nose, Depressed nasal rid... ORPHA:950
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Aortic dissection, Bruising susceptibility, Underdeveloped nasal alae, Micrognathia... OMIM:618343
Costello Syndrome
Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Limited elbow movem... OMIM:218040
Fibrochondrogenesis 1
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Short foot, Abnorm... OMIM:228520
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea, Sensorineural hearing impairment ORPHA:79097
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Arthrogryposis multiplex congenita, P... OMIM:601809
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Costello Syndrome
Depressed nasal bridge, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Low-set, ... ORPHA:3071
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Wide nasal bridge, Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Red... OMIM:235255
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal heart morphology, Anteverted na... ORPHA:404440
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Noonan Syndrome 7
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Large earlobe, Cubitus valgus,... OMIM:613706
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Congenital hip dislocation, Supernumerary nipple, Abnormal heart morphology, Patent... ORPHA:457279
Larsen Syndrome
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cryptorchidism, Ventricula... OMIM:150250
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Renal insufficiency, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Sca... ORPHA:293173
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short nose, Micrognathia, Synostosis of c... ORPHA:363417
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Depressed nasal bridge, Rhizomelia, Thoracolumbar kyphosis, Severe limb shortening,... OMIM:151210
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Abnormality of the adrenal glands, Hypospad... ORPHA:139466
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... OMIM:254450
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Short distal phalanx of finger, Wide nasal bridge, Carious teeth, Depressed nasal b... OMIM:617102
Hajdu-Cheney Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Dry skin, Micrognathia, Ventricular sept... ORPHA:955
Farber Disease
Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Short toe, Atelectasis, Ch... ORPHA:333
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Congenital hip dislocation, Microretrognathia, Distal amyotrophy, Arthrogryposis mu... ORPHA:98914
Congenital Myasthenic Syndrome
Low-set ears, Congenital hip dislocation, Microretrognathia, Distal amyotrophy, Arthrogryposis mu... ORPHA:590
Campomelic Dysplasia
Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Hearing impair... OMIM:114290
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Retrognathia, Bruising susceptibility, Sho... ORPHA:98791
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Absent platelet dense granules, Pulmonary ... OMIM:614073
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Dental maloc... ORPHA:444072
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, 11 pairs of ribs, Micrognathia, Na... OMIM:620073
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Precocious puberty, Wide nasal bridge, Restrictive cardiomyopathy, Depressed nasal ... ORPHA:369837
Focal Dermal Hypoplasia
Low-set ears, Erythema, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel morph... ORPHA:2092
Hyperparathyroidism, Transient Neonatal
Low-set ears, Hyperparathyroidism, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, R... OMIM:618188
Macs Syndrome
Wide nasal bridge, Bronchiectasis, Dilation of Virchow-Robin spaces, Bruising susceptibility, Umb... OMIM:613075
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Low-set ears, Prominent nasal bridge, Ventricular septal defect, Atrial septal defect, Convex nas... ORPHA:261190
Oculoectodermal Syndrome
Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Hypertrophic cardiomyopathy, Tra... OMIM:600268
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect, Protrudin... OMIM:619123
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bruising susceptibility, Biconcave f... OMIM:166200
Juvenile Polyposis Of Infancy
Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal bleeding, ... ORPHA:79076
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Pleural effusion, Leukocytosis, ... ORPHA:2902
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h... OMIM:109120
Al Kaissi Syndrome
Low-set ears, Wide nasal bridge, Small hand, Broad nasal tip, Depressed nasal bridge, Atrial sept... OMIM:617694
Lymphatic Malformation 6
Cupped ear, Hearing impairment, Chylothorax, Intestinal lymphangiectasia, Micrognathia, Pleural e... OMIM:616843
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna... ORPHA:261197
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Kniest Dysplasia
Platyspondyly, Depressed nasal bridge, Rhizomelia, Conductive hearing impairment, Umbilical herni... OMIM:156550
Restrictive Dermopathy
Low-set ears, Natal tooth, Micrognathia, Large placenta, Atrial septal defect, Dextrocardia, Thor... ORPHA:1662
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Broad columella, Underdeveloped nasal alae, Supernumerary nippl... ORPHA:3255
Codas Syndrome
Depressed nasal bridge, Crumpled ear, Hypoplasia of the odontoid process, Conductive hearing impa... OMIM:600373
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted nares, Mic... ORPHA:513456
Proteus-Like Syndrome
Genu recurvatum, Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Abnormality of the p... ORPHA:2969
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
19Q13.11 Microdeletion Syndrome
Congenital hip dislocation, Retrognathia, Hearing impairment, Supernumerary nipple, Underdevelope... ORPHA:217346
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Sen... ORPHA:353281
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Arrhythmia, Hyp... ORPHA:254892
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Hearing impairment, Micrognathia, Cryp... ORPHA:84
Cowden Syndrome 5
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Micr... OMIM:615108
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Respiratory distress, Hypogonadism, Facial diplegia, First degree... OMIM:160900
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho... ORPHA:2038
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Mitral regurgitation, Abnormal mi... ORPHA:576
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Hearing impairment, Bulbous nos... ORPHA:481152
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Large fleshy ears, Atr... ORPHA:280633
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Failure to thrive, Lymphopenia, Autoi... OMIM:102700
Oculodentodigital Dysplasia
Carious teeth, Hearing impairment, Micrognathia, Ventricular septal defect, Arrhythmia, Short hal... ORPHA:2710
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:214300
Familial Cerebral Cavernous Malformation
Vascular skin abnormality, Neuroma, Venous malformation, Cerebral hemorrhage, Scoliosis ORPHA:221061
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Prominent nasal bridge, Bicoronal synostosis, Patent foramen ovale, Arrhythmia,... OMIM:619184
Diaphanospondylodysostosis
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Micrognathia, ... OMIM:608022
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Hearing impairment, Tetralogy of Fallot, Anteverted ... ORPHA:96147
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Retrognathia, Ventricular septal defect, Protruding ear, Pulmonary artery... OMIM:301030
Feingold Syndrome 1
Interrupted aortic arch, Low-set ears, Accessory spleen, Wide nasal bridge, Annular pancreas, Hea... OMIM:164280
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... ORPHA:3216
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Absent gallbladder, Atrial septal defect, Short nose, Hypoplasi... ORPHA:500150
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Wide nasal base, Wide nasal bridge, Depressed nasal bridge, Hepatosplenomegaly, Sensorineural hea... ORPHA:397709
Greenberg Dysplasia
Low-set ears, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Micrognathia, Lar... OMIM:215140
Femoral-Facial Syndrome
Low-set ears, Micrognathia, Encephalocele, Cryptorchidism, Ventricular septal defect, Limited elb... OMIM:134780
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low-set ears, Abnormality of the outer ear, Wide nasal bridge, Bulbous nose, Prominent nasal brid... OMIM:617360
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla, Lower limb muscle weakness, Facial hyp... OMIM:300266
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Congenital diaphragmatic herni... ORPHA:1915
Lymphatic Malformation 7
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Anemia, Atrial septal defec... OMIM:617300
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture,... OMIM:620369
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Erythema, Apnea, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachyc... OMIM:614653
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hype... OMIM:620306
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricula... ORPHA:2772
Buratti-Harel Syndrome
Low-set ears, Recurrent pneumonia, Dilation of Virchow-Robin spaces, Cryptorchidism, Atrial septa... OMIM:619314
2Q31.1 Microdeletion Syndrome
Low-set ears, Kyphosis, Optic disc coloboma, Camptodactyly of finger, Bulbous nose, Micrognathia,... ORPHA:251014
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralog... ORPHA:974
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Genu valgum, Abnormal mitral... ORPHA:581
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... OMIM:164210
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Broad nasal tip, Cupped ear, Low-set, posteri... ORPHA:363611
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Genu valgum, Prominent nasal tip, Limb undergrowth, Left superior ... OMIM:619143
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Acute leukemia, Capitate-hamate fusion, Synostosis of carpal bone... ORPHA:289
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... ORPHA:49042
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... ORPHA:319487
Marfan Syndrome
Aortic root aneurysm, Decreased muscle mass, Premature osteoarthritis, Micrognathia, Mitral regur... OMIM:154700
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Arachnoid Cyst
Lower limb muscle weakness, Cranial nerve compression, Vertigo, Encephalocele, Subarachnoid hemor... ORPHA:2356
Keipert Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasa... ORPHA:2662
Cowden Syndrome 6
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Micr... OMIM:615109
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hearing impairment, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Neonatal ... OMIM:620024
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Short nose, Micrognathia, Prominent nasal bridge, Cryp... ORPHA:96097
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Respiratory distress, Weakness of facial m... ORPHA:596
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Decreased serum testostero... ORPHA:168563
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Beaking of vertebral bod... ORPHA:457395
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Kyphosis, Congestive heart failure, R... OMIM:615512
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... ORPHA:90349
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Depressed nasal bridge, Kyphosis, Splenomegaly, Atrial septal defect, Pericardial e... OMIM:608776
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Specc1L-Related Hypertelorism Syndrome
Low-set ears, Wide nasal bridge, Abnormal helix morphology, Short toe, Umbilical hernia, Tetralog... ORPHA:1519
Al-Raqad Syndrome
Low-set ears, Atrial septal defect, Short nose OMIM:616459
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Cryptorch... OMIM:257300
Loeys-Dietz Syndrome 1
Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve pro... OMIM:609192
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencepha... OMIM:610828
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, M... OMIM:224410
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Mitral valve prolapse, Prominent nasal tip, Atrial septal defect, Torti... OMIM:618371
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Micrognathia, Ventricular septal defect, Arthrog... OMIM:607598
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, Scoliosis, Kyphosis OMIM:300676
Acys Amyloidosis
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Interphalangeal ... OMIM:259600
Meier-Gorlin Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia of the exter... OMIM:224690
Nipah Virus Disease
Respiratory distress, Hypotension, Vertigo, Recurrent pharyngitis ORPHA:99825
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis, Diabetes insipidus, Atrial septal defect OMIM:611087
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Van Maldergem Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Cryptorchidism, Sensori... OMIM:615546
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Smal... OMIM:613458
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Retrognathia, Anteverted nares, Ventricular septal defect, Short nose, Hypoplasia ... OMIM:234050
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Congenital pulmonary airway malformation, Autoimmune hemolytic anemia, ... ORPHA:436252
Ververi-Brady Syndrome
Low-set ears, Broad nasal tip, Cupped ear, Bulbous nose, Prominent nose, Transposition of the gre... OMIM:617982
Myhre Syndrome
Precocious puberty, Craniofacial hyperostosis, Hypoplasia of the maxilla, Platyspondyly, Hearing ... ORPHA:2588
Cranioectodermal Dysplasia 2
Low-set ears, Micrognathia, Ectodermal dysplasia, Atrial septal defect, Bile duct proliferation, ... OMIM:613610
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Cryp... ORPHA:3472
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Depressed nasal bridge, Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Le... OMIM:620519
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Facial paralysis, Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic strok... OMIM:175780
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma... ORPHA:306542
Agel Amyloidosis
Bruising susceptibility, Cardiomyopathy, Dry skin, Stage 5 chronic kidney disease, Dermatological... ORPHA:85448
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br... ORPHA:729
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Absence of the sacrum, Butterfl... OMIM:617660
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Ven... ORPHA:124
Phace Syndrome
Ectopic thyroid, Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal c... ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Fibular aplasia, Microgn... ORPHA:3320
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, Mitral valve prolapse, Atrial septal defect, Hyperlordos... OMIM:300986
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul... OMIM:300967
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Low-set ears, Broad nasal tip, Micrognathia, Malar flattening... OMIM:617557
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Lymphopenia, Leukopenia, Pleural effus... ORPHA:454836
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Aplasia/Hypoplasia o... ORPHA:1307
Gaucher Disease Type 1
Gingival bleeding, Splenic infarction, Cholelithiasis, Abnormal bleeding, Bruising susceptibility... ORPHA:77259
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragm... OMIM:606164
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... OMIM:221300
Coffin-Siris Syndrome 12
Low-set ears, Delayed cranial suture closure, Micrognathia, Cryptorchidism, Sensorineural hearing... OMIM:619325
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Low-set ears, Depressed nasal bridge, Patent foramen ovale, Sensorineural hearing impairment, Kyp... OMIM:620075
Floating-Harbor Syndrome
Low-set ears, Carious teeth, Cryptorchidism, Atrial septal defect, Long nose, Dislocated radial h... ORPHA:2044
Neurocardiofaciodigital Syndrome
Retrognathia, Hearing impairment, Tetralogy of Fallot, Atrial septal defect, Overhanging nasal ti... OMIM:619869
Bcard Syndrome
Low-set ears, Platyspondyly, Contracture of the proximal interphalangeal joint of the 2nd finger,... OMIM:612394
Oculodentodigital Dysplasia
Hip dislocation, Carious teeth, Conductive hearing impairment, Underdeveloped nasal alae, Narrow ... OMIM:164200
Marshall-Smith Syndrome
Optic atrophy, Choanal atresia, Conductive hearing impairment, Bruising susceptibility, Retrognat... ORPHA:561
Zika Virus Disease
Ankle swelling, Wrist swelling, Subcutaneous hemorrhage, Transient hearing impairment, Abnormal o... ORPHA:448237
Kabuki Syndrome 1
Low-set ears, Abnormal vertebral morphology, Hearing impairment, Recurrent otitis media, Microgna... OMIM:147920
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Mandibular prognathia, Macrotia ORPHA:93945
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Respiratory distress, Abnormal pleura morpholo... ORPHA:537
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Carotid artery dilatatio... ORPHA:391487
Acquired Methemoglobinemia
Respiratory distress, Vertigo, Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Dy... ORPHA:464453
Holoprosencephaly 2
Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, Diabetes insi... OMIM:157170
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Ventricular septal def... OMIM:613001
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocati... OMIM:108721
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Noonan Syndrome 14
Aortic regurgitation, Low-set ears, Kyphosis, Bruising susceptibility, Hypertrophic cardiomyopath... OMIM:619745
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Cryptorchidis... OMIM:600901
Cowden Syndrome 1
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Lymp... OMIM:158350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaph... OMIM:611812
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Cryptorchidism, Ventricular ... ORPHA:77298
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia, Stroke ORPHA:927
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Persistence of primary teeth, Anteverted nares, Conotruncal defe... OMIM:610253
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St... OMIM:616730
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension, Cerebral berry aneurysm OMIM:210050
Lethal Kniest-Like Dysplasia
Low-set ears, Platyspondyly, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening,... ORPHA:2347
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Right ventricular failure, Interlobular... ORPHA:199241
Lymphedema-Distichiasis Syndrome
Chylothorax, Kyphosis, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Arrhythmia, ... OMIM:153400
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Low-set ears, Gingival bleeding, Poor wound healing, Bruising susceptibility, Short toe, Spontane... OMIM:225410
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory canal, Anotia, Mic... ORPHA:268249
Orofaciodigital Syndrome Type 14
Microretrognathia, Bilateral cryptorchidism, Low-set, posteriorly rotated ears, Bulbous nose, Ven... ORPHA:434179
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Foot oligodactyly, Anterior encephalocele, Amelia, Ventricular septal defect, Holop... OMIM:601357
Roberts-Sc Phocomelia Syndrome
Low-set ears, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Cryptorchidism, Ventricular... OMIM:268300
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Vascular tortuosi... OMIM:219100
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Atresia of the external audito... OMIM:601390
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Neonatal death, Pulmonary insufficiency, Abnormal ... OMIM:245650
Dpagt1-Cdg
Optic atrophy, Hearing impairment, Stroke-like episode, Diffuse optic disc pallor, Anemia, Campto... ORPHA:86309
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Genu recurvatum, Bruising susceptibility, Mitral regurgitation, Mitral valv... OMIM:225320
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive h... ORPHA:2095
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Skin ulcer, Elevated bronchoalveolar lavage fluid neutrophil proport... OMIM:608710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ... ORPHA:438213
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Fetal intraventricular hemorrhage, Prominent nasal bridge, Limb hypertonia OMIM:618480
Listeriosis
Pneumonia, Arteritis, Septic arthritis, Hearing impairment, Congestive heart failure, Respiratory... ORPHA:533
Alagille Syndrome 1
Low-set ears, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Depressed nas... OMIM:118450
Myopathy With Extrapyramidal Signs
Optic atrophy, Anteverted nares, Leukocytosis, Splenomegaly, Ventricular septal defect, Periphera... OMIM:615673
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Respiratory distress, Death in childhood, Cryptorchidism, Thrombocytopenia OMIM:615597
Donnai-Barrow Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Umbilical hernia, Cong... OMIM:222448
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy OMIM:614582
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Anteverted nares, Mi... OMIM:619135
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Bulbous nose, Sensorineural hearing impairment, Atrial septal defect, Hydrocephalu... OMIM:615219
White Forelock With Malformations
Low-set, posteriorly rotated ears, Spina bifida occulta, Atrial septal defect ORPHA:2475
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... OMIM:615888
Glanzmann Thrombasthenia 2
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:619267
Autosomal Dominant Cutis Laxa
Low-set ears, Delayed cranial suture closure, Dilatation of the ventricular cavity, Mitral regurg... ORPHA:90348
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Cryptorchidism, Patent foramen ovale, Limb hypertonia, Atrial septal defect, ... OMIM:620327
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Musc... OMIM:182250
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Upper limb undergrowth, Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Geroderma Osteodysplasticum
Platyspondyly, Hypoplasia of the maxilla, Progeroid facial appearance, Premature skin wrinkling, ... OMIM:231070
Cornelia De Lange Syndrome 1
Low-set ears, Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ven... OMIM:122470
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Pontocerebellar Hypoplasia, Type 8
Low-set ears, Arthrogryposis multiplex congenita, Talipes valgus, Anteverted nares, Patent forame... OMIM:614961
Vici Syndrome
Low-set ears, Depressed nasal bridge, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart fa... OMIM:242840
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Hypoplasia of the musculature, Camptodactyly of finger, Tricuspid regu... ORPHA:1101
Neurofaciodigitorenal Syndrome
Low-set ears, Hypoplasia of the premaxilla, Atresia of the external auditory canal, Prominent nas... ORPHA:2673
Lymphatic Malformation 13
Depressed nasal bridge, Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary art... OMIM:620244
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Hearing impairment, Hyperplasia of the maxilla, Glue ear, Congenital... OMIM:613406
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgitation, Anteverted nares, Posterio... ORPHA:228396
Hajdu-Cheney Syndrome
Low-set ears, Micrognathia, Genu valgum, Cryptorchidism, Ventricular septal defect, Absent fronta... OMIM:102500
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Bulbous nose, Ventricu... ORPHA:2328
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Smal... OMIM:257850
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, Impaired growth-hormone response to... OMIM:301068
Degcags Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Hepatosplenomegaly, Micrognathia, Pa... OMIM:619488
Pediatric-Onset Graves Disease
Graves disease, Sinus tachycardia, Congestive heart failure, Goiter, Puberty and gonadal disorder... ORPHA:525731
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Bruising susceptibility, Horseshoe kidney, Pancytopenia, Cryptorchid... OMIM:227645
Fryns Syndrome
Low-set ears, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, A... OMIM:229850
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Cryptorchidis... OMIM:227650
Stickler Syndrome
Hearing impairment, Micrognathia, Genu valgum, Mitral valve prolapse, Sensorineural hearing impai... ORPHA:828
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ri... ORPHA:66637
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Small for gestational age, Abnormal medullary pyramid morphology,... ORPHA:79243
Distal Deletion 6P
Low-set ears, Depressed nasal bridge, Hearing impairment, Underdeveloped nasal alae, Anteverted n... ORPHA:96125
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Low-set ears, Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Valv... OMIM:300707
Eec Syndrome
Choanal atresia, Carious teeth, Abnormal dental enamel morphology, Dry skin, Decreased response t... ORPHA:1896
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Retrognathia, Respiratory distress, Micrognathia, Dyspnea ORPHA:2707
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... ORPHA:138
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... ORPHA:254864
16P13.11 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Camptodactyly of fi... ORPHA:261236
Meier-Gorlin Syndrome 4
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Emphysema, Breast hypoplasia, Micrognat... OMIM:613804
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, ... OMIM:600460
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorl... ORPHA:391474
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension,... OMIM:620365
Renpenning Syndrome 1
Wide nasal bridge, Joint contracture of the hand, Scoliosis, Cupped ear, Hearing impairment, Syno... OMIM:309500
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Anemia ORPHA:436
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Supernumerary nipple, Tetralogy of Fallot, Cutis m... OMIM:100300
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Small for gestational age, Methylmalonic aciduria, Cystathioninuria, Failure to t... OMIM:277380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Wide nasal bridge, Subdural hemorrhage, Long ear, Osteoarthritis, Mandibular prognathia, Skeletal... OMIM:619714
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Subdural hemorrhage, Vertigo, Retinal hemorrhage, Communicating hydrocephalus ORPHA:25
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death i... OMIM:301108
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Micrognathia, Kyphoscoliosis, Ventricular septal defect, Cubitus valgus OMIM:618348
Carpenter Syndrome 2
Low-set ears, Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Sensorineural he... OMIM:614976
Orofaciodigital Syndrome V
Low-set ears, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ventricular septal de... OMIM:174300
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood... OMIM:610505
Simpson-Golabi-Behmel Syndrome, Type 1
Hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventri... OMIM:312870
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema, Increased proportion of exhausted T cells OMIM:618307
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Respiratory distress, Stroke-like episode, Pulmonary arterial hypertensi... OMIM:619272
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture,... ORPHA:544503
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Wide nasal base, Small hand, Flared nostrils, Hearing impairment, Thoracolumbar sco... ORPHA:480880
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Ventricular fibrillation, Prolong... ORPHA:358
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Mitral regurgitation, Mitral valve ... ORPHA:363700
Peters-Plus Syndrome
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal defect, Limite... OMIM:261540
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Hearing impairment, Micrognathia, Cryptorchidism, Atrial septal defect... OMIM:609945
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Respiratory distress, Neonatal death, Jaundice, Abnormal pinna morphology... OMIM:231680
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Unicoronal syn... OMIM:616300
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... ORPHA:373
Frontometaphyseal Dysplasia 2
Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural hearing impai... OMIM:617137
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Dry skin, Micrognathia, Absent radius, Short metacarpal, Shor... OMIM:263650
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia of the external auditory can... ORPHA:245
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Optic atrophy, Choanal atresia, Annular pancreas, Bulbous nose, Anteverted nares, M... OMIM:616975
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Ventricular septal def... ORPHA:2308
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Optic atrophy, Abnormal vertebral morphology, Kyphosis, Hearing impairment, Sh... ORPHA:280
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Depressed nasal bridge, Ectopic anterior pituitary gland, Sandwich appearance of vertebral bodies... OMIM:620558
Fetal Akinesia Deformation Sequence
Depressed nasal bridge, Pulmonary hypoplasia, Camptodactyly of finger, Pterygium, Micrognathia, M... ORPHA:994
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Retinal hemorrhage, Raynaud phe... OMIM:611773
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... OMIM:612528
Alfadhel Syndrome
Low-set ears, Bulbous nose, Nasal flaring, Retrognathia OMIM:620655
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Broad nasal tip, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micrognathia, Cry... ORPHA:1655
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Wide nasal bridge, Bulbous nose, Cryptorchidism, Sensorineural hearing i... ORPHA:250989
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Recurrent pneumonia, Patellar hypopla... OMIM:613803
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Carious teeth, Genu valgum, Mitral regurgitation, Mitral valve prolapse... OMIM:615873
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ve... ORPHA:353277
Blomstrand Lethal Chondrodysplasia
Low-set ears, Aplastic clavicle, Rhizomelia, Depressed nasal bridge, Natal tooth, Synostosis of j... ORPHA:50945
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Micrognathia, Wide nose, Humeroradial synost... OMIM:251230
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, Depressed nasal bridge, Recurre... OMIM:619575
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Sensorineural hearing impairment... ORPHA:457351
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration ORPHA:122
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Micromelia, Persisten... ORPHA:1798
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Poor wound healing, Bruising ... OMIM:300989
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears... ORPHA:1486
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Choanal atresia, Conductive hearing impairment, Short 1st metacar... ORPHA:949
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Hearing impairment, Respiratory distress, Exudative pleural eff... ORPHA:228123
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... OMIM:611134
Thakker-Donnai Syndrome
Tetralogy of Fallot, Bulbous nose, Anteverted nares, Congenital diaphragmatic hernia, Ventricular... ORPHA:1780
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Skin ulcer, Bruising susceptibility, Recurrent respiratory infections ORPHA:352723
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Erythema, Bruising susceptibility, Vertigo, Leukocytosis, Splenomegaly, Orchitis, Myo... ORPHA:32960
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Cryptorchidism, Short foot, Short metacarpal, Short nose, Cho... OMIM:166250
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Low-set ears, Microretrognathia, Short finger, Dilatation of the ventricular cavity, Decreased te... ORPHA:459070
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... ORPHA:88628
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Hyperplasia of the maxilla, Prominent nose, Genu valgum, Joint swelling, Ky... ORPHA:2976
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Micrognathia, Neonatal death, Widening of... OMIM:253310
Meckel Syndrome, Type 1
Low-set ears, Accessory spleen, Natal tooth, Occipital encephalocele, Camptodactyly of finger, En... OMIM:249000
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Abnormal capillary physiology, Angioedema ORPHA:100057
Atelosteogenesis Type I
Low-set ears, Laryngotracheal stenosis, Rhizomelia, Pulmonary hypoplasia, Joint dislocation, Abno... ORPHA:1190
Netherton Syndrome
Aminoaciduria, Emphysema, Dry skin, Hydronephrosis, Recurrent respiratory infections, Ectopic kid... ORPHA:634
Rin2 Syndrome
Bruising susceptibility, Umbilical hernia, Redundant skin, Cryptorchidism, Aortic aneurysm, Scoli... ORPHA:217335
Cleft Velum
Recurrent otitis media, Hypoplasia of the maxilla, Conductive hearing impairment, Aspiration pneu... ORPHA:99772
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anterior p... ORPHA:466791
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Hypoplasia of the maxilla, De... OMIM:101600
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Patent du... OMIM:267010
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Respiratory distress, Internal hemorrhage, Dyspnea ORPHA:247257
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Precocious puberty in females, Hearing impairment, Abnormal ... ORPHA:249
Chilton-Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... OMIM:619841
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Pallor, Cardiac conduction abnormal... ORPHA:2131
Mowat-Wilson Syndrome
Wide nasal bridge, Abnormal enteric ganglion morphology, Cupped ear, Delayed eruption of teeth, S... OMIM:235730
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Stroke, Raynaud ph... OMIM:192315
Axenfeld-Rieger Syndrome, Type 3
Malar flattening, Sensorineural hearing impairment, Atrial septal defect, Concave nasal ridge, Pa... OMIM:602482
Floating-Harbor Syndrome
Low-set ears, Carious teeth, Recurrent otitis media, Cryptorchidism, Atrial septal defect, Disloc... OMIM:136140
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Aganglionic megacolon, Atri... OMIM:614207
Succinic Acidemia
Respiratory distress OMIM:600335
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Micrognathia, Atrial septal defect OMIM:614526
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Decreased response to growth hormone stimulation test,... OMIM:245590
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Respiratory distress, Cyanosis, Short clavicles, Con... OMIM:619793
Raine Syndrome
Low-set ears, Choanal atresia, Depressed nasal bridge, Natal tooth, Arthrogryposis multiplex cong... OMIM:259775
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... ORPHA:99228
Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... ORPHA:99226
Turner Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... ORPHA:881
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp... OMIM:265000
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Scoliosis OMIM:617635
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Elbow dislocation, Genu valgu... OMIM:143095
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Lymphopenia, Micrognathia, Patent ductus arteriosus after premature birt... OMIM:618460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Small hand, Semilobar holoprosencephaly, Scoliosis, Retrognathia, Narrow nose, A... OMIM:301044
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Short metatarsal, Convex nasal ridge ORPHA:1540
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Wide nasal bridge, Broad nasal tip, Cupped ear, Dermatographic urticaria, Scoliosis... OMIM:619480
Stt3B-Cdg
Respiratory distress, Optic atrophy, Cryptorchidism, Thrombocytopenia ORPHA:370924
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Skeletal muscle atrophy, Decreased response to growth hormone stimulation test... ORPHA:488632
Spondylo-Ocular Syndrome
Low-set ears, Platyspondyly, Abnormal antihelix morphology, Ventricular septal defect, Facial hyp... ORPHA:85194
Cockayne Syndrome
Carious teeth, Absence of pubertal development, Reduced subcutaneous adipose tissue, Cryptorchidi... ORPHA:191
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Bronchiectasis, Skin ulcer, Emphysema, Recurrent bronchitis, Chro... OMIM:604571
Chime Syndrome
Erythema, Abnormality of the outer ear, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic... ORPHA:3474
Phelan-Mcdermid Syndrome
Wide nasal bridge, Dental malocclusion, Hearing impairment, Bulbous nose, Micrognathia, Malar fla... OMIM:606232
Neurooculorenal Syndrome
Ectopic posterior pituitary, Short 1st metacarpal, Central hypothyroidism, Tetralogy of Fallot wi... OMIM:620305
Chitayat Syndrome
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Abnormal pulmona... OMIM:617180
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aganglion... ORPHA:2473
Trichothiodystrophy
Carious teeth, Dry skin, Cryptorchidism, Ventricular septal defect, Neutropenia, Bilateral sensor... ORPHA:33364
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear OMIM:167730
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Radio-Renal Syndrome
Depressed nasal bridge, Chylothorax, Retrognathia, Micromelia, Abnormal form of the vertebral bod... ORPHA:3015
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Recurrent otitis media, Dry skin, Bulbous nose, Short proximal phalanx of the 5th f... ORPHA:261323
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Carney Complex, Type 1
Pituitary adenoma, Congestive heart failure, Schwannoma, Pheochromocytoma, Thyroid carcinoma, Thy... OMIM:160980
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/hypoplasia of the humerus, Congenital diaphragmatic her... ORPHA:2141
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith... OMIM:615474
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Short hallux, Small thenar eminence, Mes... OMIM:268305
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed eruptio... OMIM:119600
Trisomy 18
Choanal atresia, Microretrognathia, Camptodactyly of finger, Low-set, posteriorly rotated ears, C... ORPHA:3380
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Poor wound healing, Bruising susceptibility, Striae distensae, Vesicou... OMIM:606408
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Splenomegaly, Short ribs, Ventricular septal defect, Hydrocephalus OMIM:615630
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Kyphosis, Short toe, Prom... ORPHA:464311
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphys... OMIM:181000
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre... OMIM:252100
Congenital Disorder Of Glycosylation, Type Iiw
Low-set ears, Type I diabetes mellitus, Bilateral choanal atresia, Underdeveloped nasal alae, Tet... OMIM:619525
Liver Disease, Severe Congenital
Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, Ventricular septal de... OMIM:619991
Kury-Isidor Syndrome
Low-set ears, Recurrent otitis media, Anteverted nares, Ventricular septal defect, Scoliosis OMIM:619762
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic... ORPHA:560
Bangstad Syndrome
Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Convex nasal ridge, Prim... OMIM:210740
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Cerebrocostomandibular Syndrome
Low-set ears, Congenital hip dislocation, Carious teeth, Conductive hearing impairment, Elbow fle... OMIM:117650
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Cupped ear, Ventricular septal defect, Overfolded helix, Microtia OMIM:609654
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... OMIM:164310
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sc... OMIM:619229
Short Stature-Micrognathia Syndrome
Rhizomelia, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect, Skeletal muscl... OMIM:617164
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide nasal bridge, Umbilical hernia, Prominent nose, Malar flattening, Abnormal mitral valve morp... ORPHA:1292
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Increased circul... OMIM:275000
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Decreased n... OMIM:129400
Rhabdoid Tumor
Internal hemorrhage, Thrombocytopenia, Lymphadenopathy, Anemia, Hypertension ORPHA:69077
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertens... OMIM:616028
Ellis-Van Creveld Syndrome
Natal tooth, Delayed eruption of teeth, Acetabular spurs, Genu valgum, Cryptorchidism, Short ribs... OMIM:225500
Neurodevelopmental Disorder With Spasticity And Poor Growth
Low-set ears, Large earlobe, Prominent nose, Anteverted nares, Knee flexion contracture, Patent f... OMIM:618076
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Recurrent pneumonia, Rhizomelia, Micromelia, Respirator... OMIM:613848
X Small Rings
Aortic root aneurysm, Upper limb undergrowth, Anteverted nares, Mitral stenosis, Lower limb under... ORPHA:96201
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Micrognathia, Genu valgum, Mitral regurgitation, Ventricular septal defect, Bi... OMIM:271640
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Abnormal pinna m... OMIM:147800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Depressed nasal bridge, Bulbous nose, Cryptorchidism, Ventricular septal defect, Dy... OMIM:619103
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Small hand, Dental malocclusion, Decreased testicular... ORPHA:251028
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Insulin-resistant ... ORPHA:79474
Otopalatodigital Syndrome, Type Ii
Low-set ears, Rudimentary fibula, Micrognathia, Cryptorchidism, Short hallux, Atrial septal defec... OMIM:304120
Fanconi Anemia, Complementation Group D2
Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Anemic pallor, Neutropenia, Absen... OMIM:227646
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Kyphosis, Hypoplasia of the zygomatic bone, Rudimentary fibula, Abnormal lu... ORPHA:958
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Aplastic clavicle, Microti... ORPHA:2554
Dyskeratosis Congenita
Bone marrow hypocellularity, Hypoplasia of the maxilla, Carious teeth, Abnormality of neutrophils... ORPHA:1775
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Anteverted nares, Amelia, Congenital diaphragmatic hernia, Abnormality of the diaph... OMIM:601163
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Acromesomelia, Kyphosis, Breast hypoplasia, Narrow n... ORPHA:464306
Nocardiosis
Pneumonia, Lymphadenitis, Respiratory distress, Abnormal heart valve morphology, Emphysema, Pleur... ORPHA:31204
Retinoblastoma
Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leiomyosar... ORPHA:790
Barber-Say Syndrome
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Cryptorchidism, Wide nose, Hypoplasia o... OMIM:209885
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Respiratory distress... OMIM:618733
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Low-set ears, Popliteal pterygium, Hearing impairment, Long nasal bridge, Elbow contracture, Elbo... OMIM:178110
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Segmental peripheral demyelination/remyelination, Dilated cardiomyopathy, Hypertro... ORPHA:255210
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Carious teeth, Cryptorchidism, Mitral valve prolapse, Excessi... ORPHA:286
Branchiootorenal Syndrome 1
Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp... OMIM:113650
Incontinentia Pigmenti
Erythema, Delayed eruption of teeth, Skin ulcer, Congestive heart failure, Abnormal dental enamel... ORPHA:464
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... ORPHA:86839
Cornelia De Lange Syndrome 6
Low-set ears, Macrodontia of permanent maxillary central incisor, Short 1st metacarpal, Atriovent... OMIM:620568
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenop... ORPHA:97285
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Thoracolumbar kyphoscoliosis, Retrognathia, Prominent nasal bridge, Sensorineural h... OMIM:212066
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotated ears, Shor... ORPHA:1770
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Redunda... ORPHA:782
Distal Deletion 12Q
Low-set ears, Congenital hypertrophy of left ventricle, Bilateral conductive hearing impairment, ... ORPHA:96149
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Abnormal earlobe ... ORPHA:96191
10Q22.3Q23.3 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Microretrognathia, Atrioventricular canal defect, Breast ap... ORPHA:276413
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Depressed nasal bridge, Micromelia, Occipital meningocele, Conge... OMIM:616546
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Depressed nasal bridge, Platy... ORPHA:85166
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Acetabular spurs, Short ribs, Ventricular septal defect, Pancreatic fibro... OMIM:615503
Proboscis Lateralis
Abnormality of the maxillary sinus, Choanal atresia, Abnormal facial skeleton morphology, Optic d... ORPHA:141099
Van Den Ende-Gupta Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Dislocated radial head, Hypopl... OMIM:600920
Achondrogenesis Type 2
Micromelia, Hearing impairment, Absent vertebral body mineralization, Short ribs, Delayed vertebr... ORPHA:93296
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Microgn... OMIM:250410
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Anteverted nares, Microg... OMIM:612731
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... OMIM:274300
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Depressed nasal ridge,... ORPHA:2671
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Conductive hearing impairment, ... OMIM:616835
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Ventricular septal defect, Acute my... OMIM:610832
Atelosteogenesis Type Ii
Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, G... ORPHA:56304
Pfeiffer Syndrome Type 2
Low-set ears, Choanal atresia, Small hand, Depressed nasal bridge, Atresia of the external audito... ORPHA:93259
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Trichinellosis
Central retinal artery occlusion, Vertigo, Tinnitus, Trismus, Retinal hemorrhage, Facial palsy ORPHA:863
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Hearing impairment, Supernumerary nipple, Delaye... OMIM:601803
Loeys-Dietz Syndrome
Arterial dissection, Abnormal bleeding, Aortic dissection, Bruising susceptibility, Arterial tort... ORPHA:60030
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Optic neuropathy, Calcifi... ORPHA:391665
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Arteria lusoria, Supernumerary nipple, Delayed cranial suture closure, Overfolded h... OMIM:618653
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Panacinar emphysema, Dyspnea, Bronchiectasis OMIM:613490
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Conductive hearing impairment, Peg-shaped maxilla... ORPHA:199306
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n... ORPHA:438216
Microphthalmia, Syndromic 3
Optic nerve aplasia, Butterfly vertebrae, Cryptorchidism, Sensorineural hearing impairment, Ventr... OMIM:206900
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Hearing impairm... OMIM:183900
Williams-Beuren Syndrome
Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Mitral valve prolapse, V... OMIM:194050
Nephronophthisis 2
Pulmonary insufficiency, Situs inversus totalis, Hypertension, Pulmonary hypoplasia OMIM:602088
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Bruising susceptibility, Short femoral neck, Thenar muscle atrophy, Flexion contra... ORPHA:157965
Ivic Syndrome
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... OMIM:147750
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Small hand, Central hypothyroidism, Recurrent respirat... ORPHA:398069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Bruising susceptibility, Increased circulating cortisol level, Neuroendocrine ... ORPHA:189427
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Generalized limb muscle atrophy, Talipes valgus, Narrow nose, Type II diabe... OMIM:618891
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Wilson Disease
Bruising susceptibility, Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thr... ORPHA:905
Coffin-Siris Syndrome 1
Low-set ears, Hearing impairment, Cutis marmorata, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:135900
Cerebrocostomandibular Syndrome
Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory canal, Myelomeni... ORPHA:1393
Juvenile Xanthogranuloma
Myeloproliferative disorder, Hyphema ORPHA:158000
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Transient ischemic attack, Reticulocytos... OMIM:274150
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Genu valgu... OMIM:616202
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormality of the spleen, Cryptorchidism, Myopathy, Sensorineura... ORPHA:1606
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head ORPHA:2975
Cryptococcosis
Pneumonia, Abnormality of the outer ear, Respiratory distress, Nodular pattern on pulmonary HRCT,... ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Ventricular septal defect, Shortened PR interval, Ventricular septal h... OMIM:614947
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, ... OMIM:616229
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Cut... ORPHA:167
Nablus Mask-Like Facial Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Joint contracture of the hand, Depres... OMIM:608156
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Tricuspid regurgitation, Ventricular septal defect, Short ribs, Atrial septal defe... OMIM:263520
Isolated Arrhinia
Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplasia/Hypoplasia o... ORPHA:1134
Severe Congenital Nemaline Myopathy
Low-set ears, Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber pred... ORPHA:171430
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypot... ORPHA:83471
Alstrom Syndrome
Recurrent pneumonia, Dilated cardiomyopathy, Scoliosis, Progressive sensorineural hearing impairm... OMIM:203800
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... ORPHA:2399
Incontinentia Pigmenti
Optic atrophy, Erythema, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast ... OMIM:308300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Proteus Syndrome
Low-set ears, Pulmonary cyst, Carious teeth, Arteriovenous malformation, Decreased muscle mass, M... ORPHA:744
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Leukocytosis, Arr... ORPHA:31824
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia, Failure to thrive, Patent foramen ovale OMIM:619179
Pigmented Nodular Adrenocortical Disease, Primary, 4
Bruising susceptibility, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyp... OMIM:615830
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... ORPHA:79318
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Elbow dislocation, Mitral valve prolapse, Arrhythmia, Tendon rupture, Hip d... ORPHA:285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Hearing impairment, Elbow flexion contracture, Anteverted nares, Microgna... OMIM:300868
Cryptogenic Organizing Pneumonia
Respiratory distress, Leukocytosis, Cyanosis, Pneumothorax, Neutrophilia, Dyspnea ORPHA:1302
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Megaloblastic anemia, Neutropenia OMIM:250940
Neuroblastoma
Elevated circulating catecholamine level, Abnormal bleeding, Respiratory distress, Anemic pallor,... ORPHA:635
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Acute kidne... ORPHA:90062
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone... ORPHA:3044
Renal Hypodysplasia/Aplasia 1
Low-set ears, Hypertension, Retrognathia, Pulmonary hypoplasia OMIM:191830
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Elsahy-Waters Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bifid nasal tip, Dental malocclusion,... OMIM:211380
Limb Body Wall Complex
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Progressive congenital scoliosis, Abn... ORPHA:2369
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Polysplenia, Prof... OMIM:619418
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Sotos Syndrome
Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip... ORPHA:821
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Respiratory distress, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:251110
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom... OMIM:139090
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus, Hypoglycosylation of alpha-dystroglycan, Progress... OMIM:620166
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Pro... ORPHA:411709
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Polysplenia, Coronary artery fistula, Congenital diaphragmatic hernia, Cryptorchidi... OMIM:614294
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Low-set ears, Depressed nasal ridge, Tetralogy of Fallot, Anteverted nares,... OMIM:222470
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus, Ectopia cord... OMIM:313850
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Oromandibular Dystonia
Abnormality of the nose, Abnormality of the temporomandibular joint, Abnormal mandible morphology... ORPHA:93958
Mosaic Trisomy 20
Craniofacial asymmetry, Retrognathia, Hearing impairment, Micrognathia, Cryptorchidism, Abnormal ... ORPHA:1724
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Aplastic clavicle, Hearing impairment,... OMIM:620099
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Type I diabetes mellitus, Respiratory distress, Interstitial pneumonitis, Autoimmune h... ORPHA:37042
Plague
Hypotension, Abnormal bleeding, Hearing impairment, Skin ulcer, Lymphadenitis, Respiratory distre... ORPHA:707
Monosomy 22
Contractures of the large joints, Retrognathia, Low-set, posteriorly rotated ears, Schwannoma, He... ORPHA:96123
Mercury Poisoning
Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension ORPHA:330021
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized amyotrophy, Congenital hip dislocation, Decreased muscle mass, Respiratory distress, ... OMIM:271225
Lissencephaly 9 With Complex Brainstem Malformation
Low-set ears, Depressed nasal bridge, Ventricular septal defect OMIM:618325
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Micrognathia, Patellar aplasia, Crypt... OMIM:613805
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Congenital diaphragmatic hern... ORPHA:250999
Fraser Syndrome 2
Ureteral agenesis, Unilateral renal agenesis, Renal hypoplasia, Hypoplasia of the thymus OMIM:617666
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... ORPHA:101096
Congenital Disorder Of Deglycosylation 1
Low-set ears, Small hand, Dilation of Virchow-Robin spaces, Recurrent respiratory infections, Res... OMIM:615273
Genitopatellar Syndrome
Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Hearing impairment, Pro... OMIM:606170
Hepatitis Delta
Jaundice, Abnormal bleeding, Bruising susceptibility ORPHA:402823
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Retrognathia, Abnorm... ORPHA:3412
Orofaciodigital Syndrome Type 4
Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Abnormal joint morph... ORPHA:2753
Japanese Encephalitis
Neutrophilia, Genu recurvatum, Decreased motor nerve conduction velocity, Skeletal muscle atrophy... ORPHA:79139
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmo... ORPHA:2140
Central Retinal Vein Occlusion
Papilledema, Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Laryngomalacia
Respiratory distress OMIM:150280
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Cyanosis, Episodic... ORPHA:31826
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ... ORPHA:348
Trichohepatoneurodevelopmental Syndrome
Low-set ears, Cholelithiasis, Hip dislocation, Recurrent otitis media, Bulbous nose, Splenomegaly... OMIM:618268
Maffucci Syndrome
Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Parathyr... ORPHA:163634
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Respiratory distress, Laryngeal stenosis, Anemia, Pneumothorax... ORPHA:79404
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Splenomegaly, Lower limb undergrowth, Aqueductal stenosis, Abnormally ossified vert... ORPHA:3035
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Depressed nasal bridge, Conductive hearing impairment, Delayed eruption of teeth, Micrognathia, P... OMIM:300990
Biotinidase Deficiency
Optic atrophy, Myelopathy, Hearing impairment, Respiratory distress, Apnea, Limb muscle weakness,... ORPHA:79241
Chromosome 13Q14 Deletion Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Supernumerary nipple, Bulbous nose, Micrognat... OMIM:613884
Episodic Ataxia Type 1
Respiratory distress, Vertigo, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis ORPHA:37612
Hydrolethalus Syndrome 1
Low-set ears, Accessory spleen, Abnormal lung lobation, Upper limb undergrowth, Midline defect of... OMIM:236680
Marden-Walker Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal... ORPHA:2461
Leigh Syndrome
Optic atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Abnormal pattern of respiratio... ORPHA:506
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Failure to thrive, Abnormal lung lobation, Horseshoe kidney, Abnorm... ORPHA:2538
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Skeletal muscle atrophy, Conductive hearing impairment, High-frequency sensorineu... OMIM:614557
Mccune-Albright Syndrome
Increased circulating cortisol level, Hearing impairment, Increased circulating prolactin concent... ORPHA:562
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Weight loss, Tubulointers... ORPHA:797
Thyroid Dyshormonogenesis 1
Goiter, Umbilical hernia, Dry skin, Hypothyroidism, Macroglossia OMIM:274400
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Apnea, Megalopapilla, Chronic sinusitis, Sensorineural he... OMIM:615636
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Bruising susceptibility, Increased ci... OMIM:610489
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Interrupted aortic arch, Abnormal cartilage mor... ORPHA:2396
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Interstitial emphysema, Kyphosis, Lymphopenia, Micrognathia, Knee flexion contract... OMIM:619708
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Micrognathia, Genu valgum, Cryptorchidism, Patellar dislocation, Chronic otitis me... ORPHA:534
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia OMIM:601709
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Synostosis of carpal bones, Short thumb, Talipes valgus, Low-set, po... ORPHA:221120
Choanal Atresia
Nasal congestion, Respiratory distress, Subglottic stenosis, Cyanosis, Chronic sinusitis, Cranios... ORPHA:137914
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Platyspondyly, Short ribs, Neonatal death, Severe platyspondyly... OMIM:187600
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Short 1st meta... ORPHA:2438
Opitz Gbbb Syndrome
Low-set ears, Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Ventricular ... OMIM:300000
Pfeiffer Syndrome Type 3
Low-set ears, Choanal atresia, Small hand, Depressed nasal bridge, Hearing impairment, Respirator... ORPHA:93260
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Thrombocytopenia, Euthyroid goiter, Sensorineural he... ORPHA:3327
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Cryptorchidism, Missing ribs, Hypoplasti... ORPHA:3027
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Mandibuloacral Dysplasia Progeroid Syndrome
Depressed nasal bridge, Progeroid facial appearance, Underdeveloped nasal alae, Delayed cranial s... OMIM:619127
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Hearing impairment, Short 5th toe, Cryptorchidism, Ventricular septal defe... ORPHA:268261
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Bruising susceptibility, Striae distensae, Decreased circul... OMIM:219080
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nasal bridge, Optic atrophy, Chylothorax, Skin ulcer, Dry skin, Anteverted nares, Pleural ef... ORPHA:2526
Gaucher Disease, Type Ii
Bronchiolitis, Apnea, Splenomegaly, Death in infancy, Trismus, Thrombocytopenia, Anemia, Recurren... OMIM:230900
Bor Syndrome
Atresia of the external auditory canal, Retrognathia, Hearing impairment, Branchial cyst, Enlarge... ORPHA:107
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia ORPHA:75497
Saethre-Chotzen Syndrome
Low-set ears, Absent first metatarsal, Hypoplasia of the maxilla, Lambdoidal craniosynostosis, Co... OMIM:101400
Achondrogenesis, Type Ia
Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Hypoplastic nasal bridge, Unossified ... OMIM:200600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mand... OMIM:608670
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Low-set ears, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular sept... OMIM:607721
Beck-Fahrner Syndrome
Cardiomegaly, Protruding ear, Facial hypotonia, Ventricular septal defect OMIM:618798
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Yunis-Varon Syndrome
Low-set ears, Hypoplastic scapulae, Aspiration pneumonia, Micrognathia, Cryptorchidism, Anterior ... OMIM:216340
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Chylothorax, Thymus hyperplasia, Microg... OMIM:619036
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Short 1st metacarpal, Abnor... OMIM:269150
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat... OMIM:620454
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Respiratory distress, Pancytopenia, Acute myelo... OMIM:260400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Carious teeth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Lon... OMIM:619522
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia OMIM:188580
Stüve-Wiedemann Syndrome
Micromelia, Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, Genu... ORPHA:3206
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis, Goiter OMIM:617175
Split Lower Lip
Narrow maxilla OMIM:183400
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Goiter, Thrombocytopenia, Sensorineural hearing impairment OMIM:274240
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Depressed nasal bridge, Rhizomelia, Short toe, Short finger, 11 pairs of ribs, Red... OMIM:250220
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Proximal amyotrophy, Parathyroid adenoma, Paraganglioma of h... ORPHA:653
Alpha-1-Antitrypsin Deficiency
Bronchitis, Emphysema, Jaundice, Nephrotic syndrome, Bronchiectasis ORPHA:60
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, Respiratory ... ORPHA:50810
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural hea... OMIM:194190
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Coronal craniosyn... OMIM:614188
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption... OMIM:300952
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Accessory spleen, Wide nasal bridge, Dry skin, Depressed nasal tip, Ventricular sep... OMIM:619306
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Brittle Cornea Syndrome
Conductive hearing impairment, Bruising susceptibility, Mitral valve prolapse, Sensorineural hear... ORPHA:90354
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Breast aplasia, Absent hand, Abnormality... ORPHA:3138
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... OMIM:214500
Angelman Syndrome
Macroglossia, Hypoplasia of the maxilla, Scoliosis, Mandibular prognathia OMIM:105830
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration,... OMIM:613239
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Peripheral demyelination, Genu valgum, Ventricular septal defect, Bicuspid ao... OMIM:619475
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Intellectual Developmental Disorder, X-Linked 112
Cupped ear, Abnormal heart morphology, Right aortic arch, Cryptorchidism, Kyphoscoliosis, Madelun... OMIM:301111
Branchioskeletogenital Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Absent nipple, Broad nasal tip,... ORPHA:1299
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcom... OMIM:180295
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Poor wound healing, Bruising susceptibility, Joint dislocation, Umbilical hern... OMIM:130080
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Polycystic ovaries, Tubulointerstitial fibrosis, Chronic ... ORPHA:79259
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Depressed nasal ridge, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recur... ORPHA:731
Cog8-Cdg
Chronic axonal neuropathy, Prolonged prothrombin time, Skeletal muscle atrophy, Spontaneous hemat... ORPHA:95428
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple, Periorbital wrinkles, Underdeve... OMIM:305100
Cornelia De Lange Syndrome
Small hand, Atresia of the external auditory canal, Elbow dislocation, Cutis marmorata, Micrognat... ORPHA:199
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Ascher Syndrome
Hypothyroidism, Wide nose, Goiter ORPHA:1253
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Poland Syndrome
Abnormality of the outer ear, Small hand, Acute leukemia, Aplasia/Hypoplasia of the sternum, Cong... ORPHA:2911
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... OMIM:609166
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Hip dislocation, Hearing impairment, Umbilical hern... OMIM:308205
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Hearing impairment, Abnormal form of the vertebral bodies, Abnormal ear morphology... ORPHA:3109
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Semilob... OMIM:129900
Teebi-Shaltout Syndrome
Aortic valve stenosis, Low-set ears, Hypoplastic helices, Broad nasal tip, Wide nasal bridge, Und... OMIM:272950
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hypopl... ORPHA:920
Penile Agenesis
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Bilateral lung agenesis, Cr... ORPHA:49
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Mediastinal... ORPHA:91359
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia,... OMIM:620076
Vater/Vacterl Association
Abnormal vertebral morphology, Choanal atresia, Occipital encephalocele, Short thumb, Tetralogy o... OMIM:192350
Acrorenal-Mandibular Syndrome
Low-set ears, Hypoplastic scapulae, Absent nipple, Abnormal sacral segmentation, Rudimentary fibu... OMIM:200980
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Thrombocytopenia, Absent platelet dense granules, Prolonged b... OMIM:614074
3Q29 Microduplication Syndrome
Low-set ears, Wide nasal bridge, Hearing impairment, Ventricular septal defect, Camptodactyly of ... ORPHA:251038
Adiposis Dolorosa
Bruising susceptibility, Dry skin, Obesity, Telangiectasia of the skin, Hypothyroidism ORPHA:36397
Alkaptonuria
Aortic valve calcification, Thickened Achilles tendon, Intervertebral disk degeneration, Arthropa... OMIM:203500
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Prominent nasal tip, Central apnea, Atrial septal defect, Progressive flexi... ORPHA:522077
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Diffuse axonal swelling, Abnormal cartilage matrix, Arthrogryposi... ORPHA:86822
Acute Transverse Myelitis
Upper limb muscle weakness, Autonomic bladder dysfunction, Distal lower limb muscle weakness, Sub... ORPHA:139417
Ulbright-Hodes Syndrome
Low-set ears, Fibular aplasia, Micrognathia, Cryptorchidism, Humeroradial synostosis, Ovoid thora... ORPHA:3404
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Sensorineural hearing impairment, Thoracic aortic aneurysm, Elevated pulmona... OMIM:619351
Congenital Myopathy 17
Low-set ears, Pulmonary hypoplasia, Dental malocclusion, Narrow jaw, Myopathy, Respiratory tract ... OMIM:618975
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conductive hearing impairment, Delayed eruption of teeth, Supernumerary nipple... ORPHA:1071
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption... ORPHA:50814
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Splenomegaly, Joint swelling, Neutrophilia, Pulmonary fibrosis, Fused cervi... OMIM:612852
Fetal Akinesia Deformation Sequence 1
Low-set ears, Pulmonary hypoplasia, Congenital contracture, Decreased muscle mass, Camptodactyly ... OMIM:208150
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Adnp Syndrome
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Umbilical her... ORPHA:404448
Usher Syndrome, Type Ig
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment OMIM:606943
Townes-Brocks Syndrome 1
Choanal atresia, Stahl ear, Umbilical hernia, Tetralogy of Fallot, Lop ear, Cryptorchidism, Senso... OMIM:107480
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Protruding ear, Macroglossia, Cupped ear, Atrial septal defect ORPHA:93947
Pachyonychia Congenita
Respiratory distress, Advanced eruption of teeth, Ear pain, Natal tooth ORPHA:2309
Diets-Jongmans Syndrome
Broad nasal tip, Hearing impairment, Umbilical hernia, Long ear, Congenital diaphragmatic hernia,... OMIM:618846
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Cryptorchidism, Ventricular septal defect, Short femur, Microtia OMIM:617798
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Menorrhagia OMIM:619172
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Splenomegaly, Neonatal death, Hematemesis, Pancreatic cysts, Hypertension, P... OMIM:263200
Occipital Horn Syndrome
Platyspondyly, Bruising susceptibility, Persistent open anterior fontanelle, Genu valgum, Redunda... OMIM:304150
Spondyloocular Syndrome
Low-set ears, Platyspondyly, Mitral valve prolapse, Sensorineural hearing impairment, Atrial sept... OMIM:605822
Fraser Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Encephalocele, Cryptorchidi... ORPHA:2052
Craniotubular Dysplasia, Ikegawa Type
Wide nasal bridge, Optic atrophy, Platyspondyly, Hearing impairment, Anteverted nares, Optic nerv... OMIM:619727
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Vertigo, Anemia, Hematemesis, Thrombocytopenia, Melena, Ret... ORPHA:319251
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Dilatation of the cerebral artery, Emphysema, Slender build, Pancytopenia, Por... OMIM:613658
Perlman Syndrome
Interrupted aortic arch, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Micrognathia, C... OMIM:267000
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrh... OMIM:181450
Cholestasis, Progressive Familial Intrahepatic, 6
Bleeding requiring red cell transfusion, Bruising susceptibility, Failure to thrive OMIM:619484
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Gastrointestinal hemorrhage... OMIM:225400
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Chondrodysplasia Punctata, Autosomal Dominant
Scoliosis, Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture OMIM:118650
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Gabriele-De Vries Syndrome
Low-set ears, Decreased response to growth hormone stimulation test, Breast hypoplasia, Bulbous n... ORPHA:506358
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... OMIM:122880
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Breast aplasia, Dry skin, Anteverted nares, Sinusitis ORPHA:238468
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... OMIM:240300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Prominent metopic ridge, Hydrocephalus, Facial hypotonia, Hypoplastic aortic ar... ORPHA:457284
Rodrigues Blindness
Protruding ear, Narrow nasal bridge, Nasal flaring, Ectodermal dysplasia OMIM:268320
Bardet-Biedl Syndrome 20
Male hypogonadism, Papilledema, Atrial septal defect, Bilateral cryptorchidism OMIM:619471
Hereditary Angioedema Type 1
Hypotension, Dermatographic urticaria, Respiratory distress, Dyspnea, Urticaria ORPHA:100050
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Recurrent pneumonia, Broad nasal tip, Umbilical hernia, Malar flattening, Recu... OMIM:620330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Hypoplastic sacrum... OMIM:604292
Maternal Uniparental Disomy Of Chromosome 2
Abnormality of the ankle, Contractures of the large joints, Bilateral cryptorchidism, Decreased r... ORPHA:96179
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Underdeveloped nasal alae, Hypoplasia of the primary teeth, Portal hypert... OMIM:243800
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Pheochromocytoma, Myopathy, Ganglioneuroma, Agangl... OMIM:162300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Fibular hypoplasia, Short ribs, Jaundice, Hypoplasia of the ulna, Pancreatic fi... OMIM:208500
Acrocephalopolydactylous Dysplasia
Low-set ears, Micromelia, Polysplenia, Pancreatic fibrosis, Craniosynostosis, Extrapulmonary loba... OMIM:200995
Blepharochalasis And Double Lip
Goiter OMIM:109900
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... ORPHA:141083
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Matthew-Wood Syndrome
Low-set ears, Annular pancreas, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal spleen ... ORPHA:2470
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Transient neutropenia, Mitral valve prolapse, Ventricular se... ORPHA:500095
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Short ribs, Flat acetabular roo... OMIM:614091
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Vitreous hemorrhage, Papilledema, Normochromic anemia ORPHA:91500
Isolated Cleft Lip
Conductive hearing impairment, Umbilical hernia, Supernumerary maxillary incisor, Situs inversus ... ORPHA:199302
Townes-Brocks Syndrome
Abnormal vertebral morphology, Absent toe, Hearing impairment, Tetralogy of Fallot, Abnormal pulm... ORPHA:857
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Respiratory distress, Acral ulceration, Decreased number of peripheral m... OMIM:256810
Tetraamelia Syndrome 1
Low-set ears, Choanal atresia, Micrognathia, Congenital diaphragmatic hernia, Adrenal gland agene... OMIM:273395
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter OMIM:615595
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Atelectasis, Impaired oxidative burst, Pleural effusion, Sple... OMIM:306400
You-Hoover-Fong Syndrome
Hearing impairment, Kyphoscoliosis, Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Familial Drusen
Macular hemorrhage ORPHA:75376
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Hypertension, Enamel hypoplasia, Atrial septal defect, Mandibular prognathia OMIM:300896
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Primrose Syndrome
Hearing impairment, Genu valgum, Cryptorchidism, Hip contracture, Macrotia, Irregular vertebral e... OMIM:259050
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Kyphosis, Bruising susceptibility, Wormian bones, Fragile skin, Hyperlordosis,... OMIM:617821
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Mitral valve prolapse, Sensorineural hearing impairment, Ventricular septa... OMIM:617107
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Abnormality of the outer ear, Depressed nasal bridge, Broad nasal tip, Promine... ORPHA:466943
Renal Tubular Dysgenesis
Hypotension, Widely patent fontanelles and sutures, Pulmonary hypoplasia OMIM:267430
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Abnormality of the ankle, Bruising susceptibility, Dry skin, Abnormality of the... ORPHA:642
Cowden Syndrome
Follicular thyroid carcinoma, Hearing impairment, Goiter, Neoplasm of the thyroid gland, Abnormal... ORPHA:201
Occipital Horn Syndrome
Synostosis of joints, Aplastic clavicle, Platyspondyly, Kyphosis, Bruising susceptibility, Delaye... ORPHA:198
Chand Syndrome
Dry skin, Hydroureter, Atelectasis ORPHA:1401
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ... OMIM:618426
Tooth Agenesis, Selective, X-Linked, 1
Respiratory tract infection, Aplasia of the maxilla, Agenesis of molar, Agenesis of lateral incisor OMIM:313500
Sympathetic Ophthalmia
Erythema, Hearing impairment, Tinnitus, Papilledema, Retinal hemorrhage ORPHA:79098
Brittle Cornea Syndrome 2
Bruising susceptibility, Hearing impairment, Umbilical hernia OMIM:614170
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Bruising susceptibility, Premature graying of hair, Limb muscle weakness... OMIM:112250
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy, Congestive heart failure OMIM:617156
Retinoblastoma
Pinealoma, Vitreous hemorrhage, Leukemia OMIM:180200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Phocomelia, Vertebral segmentation defect ORPHA:3004
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Wide nasal bridge, Short thumb, Supernumerary nipple, Anteverted nares, Narrow nasal tip, Cryptor... ORPHA:477993
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Bilobed right lung, Hydrocephalus, Anencephaly, Bile... OMIM:612284
Microphthalmia, Syndromic 1
Low-set ears, Joint contracture of the hand, Hearing impairment, Optic disc coloboma, Recurrent o... OMIM:309800
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Posteri... OMIM:620189
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lower respiratory t... OMIM:619632
Early Infantile Epileptic Encephalopathy
Precocious puberty, Depressed nasal bridge, Short finger, Umbilical hernia, Anteverted nares, Ven... ORPHA:1934
Familial Adenomatous Polyposis
Abnormal cementum morphology, Neoplasm of the gallbladder, Pituitary adenoma, Eruption failure, G... ORPHA:733
Yellow Fever
Neutrophilia, Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection... ORPHA:99829
Diphallia
Penoscrotal transposition, Horseshoe kidney, Abnormal heart morphology, Distal urethral duplicati... ORPHA:227
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Dry skin, Abnor... ORPHA:95712
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Prominent nose, Fragile skin, Abnormal pulmonary interstitial mor... OMIM:614748
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Neuroocular Syndrome 1
Low-set ears, Genu recurvatum, Cupped ear, Retrognathia, Umbilical hernia, Anterior creases of ea... OMIM:619539
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Hemivertebrae, Vertebral fusi... OMIM:271520
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Ventricular septal defect, Kyphoscoliosis, Severe plat... OMIM:259770
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Elbow dislocation, Hemivertebrae, Patent ductus ... ORPHA:1112
Renal Agenesis, Bilateral
Low-set ears, Depressed nasal ridge, Sirenomelia, Pulmonary hypoplasia ORPHA:1848
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Dry skin, Scaling skin, Multinodular goiter OMIM:618373
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Anterior ... OMIM:300106
Pierson Syndrome
Retinal hemorrhage, Hypertension, Death in childhood, Skeletal muscle atrophy OMIM:609049
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormality of the submandibular glands, Optic nerve compression, Enlar... ORPHA:79078
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Skin ulcer, Generalized abnormality of skin, Respiratory distress, Neutropenia, Anemia... ORPHA:95455
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Mu... ORPHA:276399
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Micromelia, Absent or minimally ossified vertebral bodies, Micrognathia, ... ORPHA:93271
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Congenital hip dislocation, Cryptorchidism, Pulmonary hypoplasia OMIM:236700
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Cryptorchidism ORPHA:404451
Synpolydactyly 2
Tarsal synostosis, Metatarsal synostosis, Metacarpal synostosis, Carpal synostosis OMIM:608180

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbln1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbln1.

No publications found that use IMPC mice or data for Fbln1.

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MGI Allele Allele Type Produced
Fbln1tm50277(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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