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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
Carpal synostosis, Metatarsal synostosis, Tarsal synostosis, Metacarpal 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
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta 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
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal muscular a... OMIM:616866
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Macrotia, Wid... ORPHA:3304
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, A... ORPHA:2257
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:280679
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thromb... ORPHA:520
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
Decreased response to growth hormone stimulation test, Premature graying of hair, Elevated circul... OMIM:300845
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Choanal stenosis, Conductive hearing impairment... OMIM:620186
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Cutis marmorata, Livedo reticularis, Li... OMIM:182410
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Thromboc... OMIM:617397
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ventilatory defec... OMIM:620296
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoi... ORPHA:36382
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... OMIM:202650
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Monosomy 18Q
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, C... ORPHA:1600
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of... ORPHA:3047
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Posteriorly ro... OMIM:179613
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middle phalanx of 3rd finger... OMIM:308050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Wide nose, Overriding aorta, Bicuspid aor... ORPHA:477817
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... OMIM:619909
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... OMIM:614886
Glossopharyngeal Neuralgia
Ear pain, Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossopharyngeal nerv... ORPHA:221098
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Glue ear, Cutis marmorata, Broad nasal tip, Secundum atrial sep... OMIM:619758
Pseudo-Torch Syndrome 1
Microretrognathia, Anteverted nares, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Ja... OMIM:251290
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Prolidase Deficiency
Chronic lung disease, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... OMIM:170100
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Posteriorly rotated ears, Short toe, Spina bifida occulta, An... OMIM:617877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Camptodactyly o... OMIM:619951
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
Gaucher Disease, Perinatal Lethal
Respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Cardiomegaly... OMIM:608013
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Hearing impairment, Long nose, Carious teeth, Muscular ventricular septal de... ORPHA:363444
Congenital Sialidosis Type 2
Abnormal EKG, Respiratory tract infection, Hydrocephalus, Optic atrophy, Abnormal heart morpholog... ORPHA:93400
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Choanal stenosis, Thoracic kyphosis, Aspirat... OMIM:602535
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Micrognathia, Cardi... OMIM:617022
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormone stimulati... OMIM:220210
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ... ORPHA:449285
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegal... OMIM:300855
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... ORPHA:906
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... ORPHA:824
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Decreased response to growth hormone stimulation test, Micrognathia... OMIM:619503
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Diabetes mellitus, Prominent nose, Secundum atrial septal defect, Micrognathia, Recurrent lower r... OMIM:620194
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect... OMIM:608779
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal lung morphology, Cough, Ecchymosis, Abnormal bleeding, Pericardial ... ORPHA:464329
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, ... OMIM:603909
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r... ORPHA:244
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, C... OMIM:612541
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A... ORPHA:860
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Muscular ventricular septal defect, Wide nasal bridge, Respiratory failu... OMIM:618804
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresi... OMIM:158170
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Depressed nasal bridge, Abn... ORPHA:3426
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridg... ORPHA:1110
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Umbilic... OMIM:618205
Fucosidosis
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... OMIM:230000
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger OMIM:300049
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar... OMIM:617053
Sotos Syndrome
Mandibular prognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad... OMIM:117550
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure... ORPHA:94080
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Scolios... OMIM:619910
Sepsis In Premature Infants
Abnormal mucociliary clearance, Pallor, Neutropenia, Abnormal bleeding, Leukocytosis, Oliguria, B... ORPHA:90051
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundu... OMIM:612562
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A... ORPHA:331
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasi... ORPHA:2166
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Birk-Aharoni Syndrome
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... OMIM:620071
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Intellectual Developmental Disorder, Autosomal Recessive 72
Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominent nose, Secundum atrial se... OMIM:618665
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the thymus, Conductive hearing impairment,... ORPHA:861
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Coarcta... OMIM:614300
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Thrombocytopenia, Dyspnea, Hematuria, Anemia, Prolonged QTc i... ORPHA:231111
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... OMIM:619170
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... OMIM:619608
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... OMIM:300580
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Frank-Ter Haar Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial sept... OMIM:249420
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Cardiorespiratory ... ORPHA:99828
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricula... OMIM:620070
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... ORPHA:2260
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Cutis marmorata, Mediastinal lymph... ORPHA:91138
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Hypospadias, Recurrent bronchitis, Poor wound healing, Cryptorchidism, Asthma, Dry ... OMIM:620331
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chroni... OMIM:613496
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Aica-Ribosuria Due To Atic Deficiency
Prominent metopic ridge, Anteverted nares, Prominent nasal bridge, Secundum atrial septal defect,... OMIM:608688
Alg12-Cdg
Redundant skin, Micrognathia, Abnormal peripheral nervous system morphology, Patent foramen ovale... ORPHA:79324
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... OMIM:612840
Boutonneuse Fever
Renal insufficiency, Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leu... ORPHA:83313
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Intellectual Developmental Disorder, Autosomal Recessive 65
Prominent metopic ridge, Abnormal pinna morphology, Prominent nasal bridge, Supernumerary nipple,... OMIM:618109
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Anteverted ears, Bila... OMIM:616268
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ... ORPHA:567
Pallister-Hall Syndrome
Adrenal hypoplasia, Depressed nasal ridge, Hemivertebrae, Gonadotropin deficiency, Abnormal lung ... ORPHA:672
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Glomerulonephritis, Purpura OMIM:614380
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosu... OMIM:608104
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Abnormal optic di... ORPHA:508498
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Prolonged bleeding time, Abnormal neutrophil count, Splenomegal... ORPHA:3226
Meningococcal Meningitis
Shock, Papilledema, Neonatal respiratory distress, Hearing impairment, Stroke, Hypotension, Petec... ORPHA:33475
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypothyroidi... ORPHA:90065
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... ORPHA:136
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Thrombocytopenia, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolong... OMIM:225750
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Skeletal muscle atrophy, Respiratory... OMIM:620278
Dural Sinus Malformation
Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebe... ORPHA:97339
Diamond-Blackfan Anemia 21
Aortic regurgitation, Cutis marmorata, Micrognathia, Secundum atrial septal defect, Erythroid hyp... OMIM:620072
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Acrocyanosis, Abnormal per... ORPHA:183
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respirat... OMIM:618886
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Overfolded... ORPHA:79113
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Micrognath... ORPHA:1388
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Posteri... OMIM:301056
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ... ORPHA:371428
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Arthropathy, Hip contracture... ORPHA:169805
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Scoliosis, Hypertrophic cardiomyopathy, Sensory a... OMIM:619121
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Asplenia, De... OMIM:306955
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Prominent nose, Camptodactyly o... OMIM:300280
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal def... ORPHA:79345
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Petechiae OMIM:619463
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Conductive hearing impairment, Spi... OMIM:201000
Kagami-Ogata Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of ... OMIM:608149
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Ethylmalonic aciduria, Acrocyanosis, Petechiae OMIM:602473
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Knee di... ORPHA:536545
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuria, Cough, Anemia... ORPHA:375
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... OMIM:609821
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Depressed nasal bridge, Secundum atrial septal defect, Prominent antihel... OMIM:615802
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Choanal stenosis, Chronic otitis media, Synostosis... OMIM:101200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal at... ORPHA:49827
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect, Low-set ears OMIM:620062
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Ecchymosis, Bruising su... OMIM:614201
Skraban-Deardorff Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Right aortic a... OMIM:617616
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Vertebrobasilar dolichoectasia, Wide nasal bridge... ORPHA:521445
Simple Cryoglobulinemia
Myocardial infarction, Abnormal lung morphology, Acral ulceration, Nephritis, Membranoproliferati... ORPHA:91139
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Bilateral Polymicrogyria
Micrognathia, Sensorineural hearing impairment, Central hypothyroidism, Abnormality of masticator... ORPHA:268940
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... OMIM:153670
Holt-Oram Syndrome
Hypoplasia of the ulna, Thoracic scoliosis, Short humerus, Ventricular septal defect, Aplasia of ... OMIM:142900
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Tick-Borne Encephalitis
Skeletal muscle atrophy, Facial palsy, Hearing impairment, Thrombocytopenia, Leukocytosis, Vertig... ORPHA:297
Familial Hemophagocytic Lymphohistiocytosis
Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Abnormal renal physiology, Hem... ORPHA:540
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... ORPHA:169802
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphr... ORPHA:1120
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Micrognathia, Cryptorchidism, Jaundice, Optic nerve dysplasia, Abnormal heart morphology, ... OMIM:214110
Hypophosphatasia, Infantile
Recurrent respiratory infections, Elevated urine pyrophosphate, Death in infancy, Apnea, Hypercal... OMIM:241500
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Hip dislocatio... OMIM:618651
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Hypoplasia of th... OMIM:613177
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Decreased circulating T4 con... ORPHA:90674
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Sneddon Syndrome
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Nephropathy, Vascular ... ORPHA:820
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Respira... ORPHA:1166
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nos... OMIM:180849
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Abnormal pinna morpholo... OMIM:609069
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Fanconi Anemia, Complementation Group Q
Low-set ears, Bone marrow hypocellularity, Primum atrial septal defect, Absent thumb OMIM:615272
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... ORPHA:276621
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Dyspnea, Depresse... ORPHA:1832
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Co... ORPHA:397
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle... ORPHA:1143
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Posteriorl... OMIM:613870
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Death in... OMIM:210710
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Splenic ruptu... ORPHA:98878
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis ORPHA:96190
Okamoto Syndrome
Prominent metopic ridge, Redundant neck skin, Ventricular septal defect, Anteverted nares, Depres... ORPHA:2729
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Cutis marmorata, Epistaxis, ... ORPHA:33226
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Thickened helices, Hypoplasia of the maxi... ORPHA:261295
Aspergillosis
Sinusitis, Pneumonia, Eosinophilia, Cough, Hypersensitivity pneumonitis, Dyspnea, Chronic pulmona... ORPHA:1163
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... ORPHA:66634
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363958
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Crackles, Excessive bleeding after a venipuncture, Myocarditis, Leuk... ORPHA:319213
Ethylmalonic Encephalopathy
Acrocyanosis, Failure to thrive, Ethylmalonic aciduria, Petechiae ORPHA:51188
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... ORPHA:465
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears, Hydro... OMIM:614424
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Erythrocytosis, Familial, 1
Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Vertigo, Increased hemoglobin... OMIM:133100
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Neonatal death, Atr... OMIM:601186
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Osteogenesis Imperfecta
Abnormality of dental color, Convex nasal ridge, Cervical kyphosis, Micrognathia, Micromelia, Ost... ORPHA:666
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, Hemophagocytosi... ORPHA:79477
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Facial erythema, Hypoxemi... ORPHA:284227
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuses, Anterio... OMIM:136760
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph... OMIM:614437
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Respiratory insufficiency, Scoliosis, Arthrogryposis mul... OMIM:615731
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, ... ORPHA:158029
Keutel Syndrome
Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U... ORPHA:85202
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myocarditis... ORPHA:809
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... ORPHA:79
Tarp Syndrome
Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypoplasia of the radius, Optic atrophy... OMIM:311900
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus arteriosus, ... ORPHA:293939
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Livedoid Vasculopathy
Enlargement of the ankles, Pancytopenia, Telangiectasia of the skin, Abnormal capillary morpholog... ORPHA:542643
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Restrictiv... OMIM:203300
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Congenital diaphragmatic he... OMIM:300887
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Vitreous hemorrhage ORPHA:90050
3C Syndrome
Adrenal hypoplasia, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial sept... ORPHA:7
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Crypto... OMIM:615524
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal b... OMIM:301040
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Micrognathi... ORPHA:1918
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Protruding ear, Atria... OMIM:612474
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Poor wound healing, Hyperextensibility of the knee, Osteoarthritis, Fragile sk... OMIM:130000
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Nephropathy, Prolonged bleeding time, Absent mic... OMIM:301000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Cardiomegaly, B... OMIM:608836
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ... OMIM:616145
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Broad nasal tip OMIM:618354
Q Fever
Respiratory distress, Abnormal left ventricular function, Cough, Pericardial effusion, Vasculitis... ORPHA:781
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Conductive hearing impairment, Atrial septal defect, Patent fora... OMIM:157800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Scoliosis, Micrognathia OMIM:608227
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Prominent no... OMIM:301022
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Respiratory distress, Depressed nasal bridge, Ankle flexion contracture, Micrognathia... OMIM:608799
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin ... ORPHA:2326
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... OMIM:277450
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overfolded helix, Transposition ... ORPHA:1913
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc coloboma, Choanal s... OMIM:241310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... ORPHA:99827
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Micromelia, Atrial septal defect, Patent foramen ovale, Microretrognathia, Sca... OMIM:618870
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Abnormal cerebral vas... ORPHA:904
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... OMIM:212093
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Micrognathia, Conductive hearing impairment, Verteb... OMIM:130720
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Opt... OMIM:618164
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... OMIM:300400
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide ... OMIM:619149
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Renal insufficiency, Tachycardia, Sinusitis, Pneumonia, Glomerulonep... ORPHA:36234
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... OMIM:612561
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Atelis Syndrome 1
Glue ear, Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Bronchiecta... OMIM:620184
Recon Progeroid Syndrome
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Promin... OMIM:620370
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Congenital hip dislocation, Abnormal pinna morphology, Mu... OMIM:618291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... ORPHA:2041
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal musc... OMIM:616867
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Ante... ORPHA:536467
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C... OMIM:600001
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Depressed nasal bridge, Micrognathi... ORPHA:261120
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... ORPHA:29072
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Micrognathia, Kyphosis, Cryptorchidism, Wide nasal bridge, Abnormal heart morph... ORPHA:352490
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Optic atrophy, Myopathy ORPHA:26792
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Rhizo... ORPHA:1842
Atelis Syndrome 2
Micrognathia, Prominent nose, Kyphosis, Patent ductus arteriosus, Bulbous nose, Elevated circulat... OMIM:620185
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, Purpura OMIM:161950
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Cutis marmorata, Congenital diaphragmatic her... OMIM:617602
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614009
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Muscular ventricular septal defect, Spina bifida occulta, Fused cervi... OMIM:619227
Erythrocytosis, Familial, 2
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein... OMIM:263400
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Neurofibromatosis-Noonan Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Secundum atrial septal defect, Cryptorchidism, ... OMIM:601321
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura ORPHA:889
Feingold Syndrome Type 1
Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, Patent duc... ORPHA:391641
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon... OMIM:615688
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, De... OMIM:619383
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Hyd... OMIM:613603
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Down Syndrome
Redundant neck skin, Short palm, Conductive hearing impairment, Atrial septal defect, Atrioventri... OMIM:190685
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Gener... OMIM:264090
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Pos... OMIM:612946
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atroph... OMIM:614261
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ventricular septal defect, Prominent nasal bridge, Crypto... ORPHA:401935
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Wide nose, Wide nasal bridge, Low-set ears, Atrial septa... ORPHA:89844
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... ORPHA:743
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hemivertebrae, Contracture of the proximal... OMIM:618223
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Low-set ears, Scol... OMIM:619717
Li-Campeau Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... OMIM:619189
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Yuan-Harel-Lupski Syndrome
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity,... OMIM:616652
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Hearing impa... ORPHA:163956
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... OMIM:609029
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Bulbous nose, Patent ductus arteriosus, Low-set ears, Pulmonary seques... OMIM:618330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Bacterial endocarditis, Ecchymosis, Papilledema, Poor wound healing, S... ORPHA:2072
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Cho... OMIM:601808
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Alobar ho... OMIM:301043
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Apnea, Micro... OMIM:614669
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Underde... ORPHA:163979
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Redundant neck skin, ... OMIM:618652
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Scoliosis, Advanced erupti... OMIM:614753
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Microtia, Symphalangism of t... ORPHA:1439
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Cough, Abnormality of the hypothalamus-pituitary axis, Ureteral stenos... ORPHA:900
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor... ORPHA:264450
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Death in infancy, Pancytopenia, Depressed nasal bridge, Anteve... ORPHA:85212
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, Cerebellar hemo... OMIM:606054
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... ORPHA:2409
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Purpura Simplex
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura OMIM:179000
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Senso... ORPHA:2549
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Low-set... OMIM:615502
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydro... ORPHA:1926
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Wide anterior fontanel, Patent d... OMIM:606003
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Choanal stenosis, Uplifted earlobe OMIM:620183
Transaldolase Deficiency
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper... ORPHA:101028
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... ORPHA:745
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Cough, Li... ORPHA:86812
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... ORPHA:324636
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An... ORPHA:2330
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular... ORPHA:420741
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating ACTH level... OMIM:219090
Thanatophoric Dysplasia
Depressed nasal bridge, Redundant skin, Micromelia, Abnormal sacroiliac joint morphology, Patent ... ORPHA:2655
Noonan Syndrome 11
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Palmoplantar cutis laxa, Bilatera... OMIM:618499
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
8Q12 Microduplication Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Wide nasal bridge, Short foot, Atria... ORPHA:228399
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi... ORPHA:238459
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Micrognathi... OMIM:619472
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Bronchitis, Cardiomegal... OMIM:601005
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Anteverted nares, Depre... OMIM:217980
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... ORPHA:404443
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... OMIM:608978
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat... ORPHA:2306
Mungan Syndrome
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... OMIM:611376
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... OMIM:618300
Lujan-Fryns Syndrome
Macroorchidism, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... ORPHA:776
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Redundant skin, Micromelia, Kyphosis, Patent ductus arteri... ORPHA:93274
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Leukopenia, Neutropenia, Death in childhood, Atrial se... OMIM:617303
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosus... OMIM:617516
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Small for gestational age, Bicuspid aortic valve, Ventricular ... ORPHA:84064
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Emanuel Syndrome
Congenital hip dislocation, Redundant neck skin, Multiple joint contractures, Congenital diaphrag... ORPHA:96170
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prominent ... ORPHA:500159
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Normochr... OMIM:614857
Pauci-Immune Glomerulonephritis
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Dysp... ORPHA:93126
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Knee flexion contracture, Atrial septal defect, Wrist flexio... OMIM:121050
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Vertigo, Intracranial hemorrhage, Pseudopapillede... ORPHA:140989
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Rhinorrhea, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Right aortic ... OMIM:617577
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Anterior creases of ea... ORPHA:1727
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Prominent nose, Patent ductus ... OMIM:615668
Distal Triplication 15Q
Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupp... ORPHA:314588
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Posteriorly rotate... ORPHA:2789
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Low-set ear... ORPHA:1919
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Sensorineural hearing impa... OMIM:616430
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, Abnormal lung lobation, Abnor... ORPHA:2516
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... ORPHA:210122
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Purpura, Aplastic anemia, Sens... OMIM:605432
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Pulmona... ORPHA:363618
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Paten... OMIM:614576
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Protruding ear, Atrial septal defect, Ecchymosis, Microretrognathia, Tricuspid... OMIM:601776
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Wrinkly Skin Syndrome
Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet, Microretrog... OMIM:278250
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, P... ORPHA:3260
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Myocardial infarction, Prematurely aged appearance, Pulmona... ORPHA:3342
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Phaver Syndrome
Depressed nasal bridge, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated e... ORPHA:2876
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Depressed nasal bridge, Craniosynostosis, Microg... OMIM:614114
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Thrombocytopenia, Splenomegaly, Optic atrophy, Cardiomyopathy, Stroke, Neut... ORPHA:79312
Marburg Hemorrhagic Fever
Nonproductive cough, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bl... ORPHA:99826
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Depressed nasal bridge, Micrognathia, Patent ... OMIM:618142
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... ORPHA:1596
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal heart morp... ORPHA:2209
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Promine... ORPHA:251061
Brucellosis
Bronchitis, Leukopenia, Leukocytosis, Lymphadenopathy, Anemia, Miscarriage, Pneumonia, Hypersplen... ORPHA:1304
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... ORPHA:244242
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Peripheral axonal neuropathy, Sensorineural h... ORPHA:2596
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... OMIM:614399
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Mi... ORPHA:3186
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Micrognathia, Osteoarthritis, Intracr... ORPHA:740
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... ORPHA:91130
Teebi Hypertelorism Syndrome 1
Natal tooth, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, S... OMIM:145420
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Macroorchidism, Ventricular septal defect, Prominent nasal bridge, Micrognat... OMIM:309520
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Abnormality of the knee, Skeletal muscle atrophy, Scapular winging, Respir... ORPHA:98915
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... OMIM:614075
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic acidur... OMIM:251000
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Prominent nasal bridge, Decreased res... OMIM:216550
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Poor wound healing, Prolonged bleeding... ORPHA:98879
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Wide nose, Thoracic scoliosis, Apnea, ... ORPHA:79330
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack... ORPHA:60033
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Ventricular septal defect, Anteverted nares, Depr... ORPHA:435638
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Neonatal respiratory distress, Ventricular ... ORPHA:457193
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Angina pectoris, Anteverted n... ORPHA:109
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Splenomegaly, ... ORPHA:2414
Suleiman-El-Hattab Syndrome
Microretrognathia, Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect... OMIM:618950
Fg Syndrome Type 1
Micrognathia, Prominent nose, Atrial septal defect, Cryptorchidism, Microtia, Widely patent fonta... ORPHA:93932
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Crypt... ORPHA:2519
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent joint dislocation, Congenital hip dislocation, Recurrent sinusitis, Bruising susceptibi... OMIM:130010
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Osteoarthritis, Shoulder dislocation, Ecchymosis, Acr... ORPHA:287
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology ORPHA:401942
Prune Belly Syndrome
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,... ORPHA:2970
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Sensorineural hearing impa... ORPHA:290
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Optic atroph... OMIM:615042
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pulmonic stenosis, Low-set ears, ... OMIM:605321
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At... OMIM:265380
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Narrow nasal r... OMIM:130050
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Abnormal salivary gland morphology, Abnormal EKG, Nephr... ORPHA:85443
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag... OMIM:613561
Ogden Syndrome
Microretrognathia, Torticollis, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchid... ORPHA:276432
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cutis laxa, Ple... OMIM:615355
Cinca Syndrome
Joint dislocation, Delayed closure of the anterior fontanelle, Hearing impairment, Abnormality of... ORPHA:1451
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... ORPHA:238329
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Enlargement of the ankles, Multiple joint contractures, Secundum atrial sep... ORPHA:99646
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Prominent nasal bridge, Depressed nasal bridge, Patent ductus arterios... OMIM:618974
Verheij Syndrome
Branchial cyst, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anteverted n... OMIM:615583
Mgat2-Cdg
Abnormal bleeding, Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phy... ORPHA:79329
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Transient ischemic attack, Epistaxis, M... ORPHA:40923
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Respiratory distress, Depressed nasal bridge, Microm... ORPHA:166272
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper lim... ORPHA:494424
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Hypoplasia of th... OMIM:620157
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Joint subluxation, Wrist drop, Musc... ORPHA:1900
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Anteverted nares, Pa... OMIM:612863
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Trisomy 13
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Sensorineural hearing impairment, ... ORPHA:3378
Hydranencephaly
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... ORPHA:2177
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear,... OMIM:614846
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Po... ORPHA:3309
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Atrial septal defect, Tricuspid regurgitation, Thoracolumbar ... ORPHA:230851
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, S... ORPHA:990
Recombinant 8 Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Camptodactyly ... ORPHA:96167
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Posteriorly ... OMIM:613309
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Urinary i... OMIM:232300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Cryptorchidism, Bulbous ... OMIM:618494
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Thoracic kyphosis, Atrial septal defect, P... ORPHA:505248
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Chikungunya
Abnormal bleeding, Epistaxis, Peripheral nerve compression, Raynaud phenomenon, Cervical lymphade... ORPHA:324625
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Low-set, posteriorly rotated ears, Encephalocele, Aplasia/Hypoplasia of th... ORPHA:1908
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Thanatophoric Dysplasia Type 1
Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Abnormal sacroiliac joint morpho... ORPHA:1860
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Short thumb, Muscular ventricular septal defect, Wide nasal bridge, Intrinsic hand... OMIM:618569
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Atrial septal defect, Contracture of the proximal interphal... OMIM:300166
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear malformation,... ORPHA:251071
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Pallor, Hypothyroidism, Hyperplasia... ORPHA:231226
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Striae distensae, Angina pectoris, ... ORPHA:758
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Ventricular septal defect, Choanal atresia, Micrognathia,... OMIM:610536
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Depressed nasal bridge... ORPHA:284169
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Osteoarthritis, Decreased compound muscle action potential amplitude, Descendin... OMIM:620080
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Butterfly vertebra... ORPHA:52
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Anteverted nare... OMIM:619343
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac... ORPHA:97214
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Microg... OMIM:608572
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Micrognathia, Underdeveloped nasal alae, Contract... ORPHA:83617
Coffin-Siris Syndrome 6
Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip,... OMIM:617808
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... ORPHA:2847
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Diaphragmatic eventration, Neonatal respiratory distress, Ventricular septal de... OMIM:620025
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... OMIM:613795
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Hypogonadism, Recurrent ot... OMIM:615993
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Adrenal hypopla... ORPHA:230839
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Micrognathia, Scoliosis, Macrotia OMIM:300934
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Perching Syndrome
Respiratory distress, Cyanosis, Depressed nasal bridge, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Scoliosis, Camp... OMIM:619751
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Leptospirosis
Respiratory distress, Papilledema, Pericarditis, First degree atrioventricular block, Jaundice, R... ORPHA:509
Kanzaki Disease
Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Depressed nasal bridge, Sensorin... OMIM:609242
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Tho... OMIM:300472
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Prominent nose, Underdev... ORPHA:2637
Shigellosis
Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Ur... ORPHA:810
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cutis marmorata, Cryptorchidism, Patent ductus arter... OMIM:612938
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen... ORPHA:3097
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Depressed nasal bridge, Posteriorly rotated ears, Secundum atrial septal d... OMIM:613355
Hypomandibular Faciocranial Dysostosis
Death in infancy, Recurrent respiratory infections, Anteverted nares, Craniosynostosis, Patent du... ORPHA:1790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... ORPHA:508488
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Cutis marmorata, Craniosynostosis, Moyamoya phenomenon ORPHA:401986
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... OMIM:618624
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
17Q23.1Q23.2 Microdeletion Syndrome
Depressed nasal bridge, Malar flattening, Dyspnea, Patent ductus arteriosus, Bulbous nose, Patell... ORPHA:261279
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Flexion con... ORPHA:77260
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Potocki-Lupski Syndrome
Mandibular prognathia, Micrognathia, Hypothyroidism, Dental malocclusion, Scoliosis, Atrial septa... OMIM:610883
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Hypothyroidism, Juvenile rheumatoi... OMIM:607944
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Nonproducti... ORPHA:2902
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p... ORPHA:354
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Thoracic scoliosis, Prematurely aged appearance, Redundant skin, Car... OMIM:618000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, A... OMIM:243700
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Sp... ORPHA:335
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... OMIM:243500
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal form of the ve... ORPHA:93262
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Conductive hearing impairment, Short metatarsal, Wide nasal bri... ORPHA:217017
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ... OMIM:605275
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Te... OMIM:208050
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chronic kidney disea... ORPHA:1667
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Anteverted nares, Ventr... OMIM:616651
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Facial hypotonia, Prominent ... ORPHA:261311
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Myocarditis, Sensorineural he... ORPHA:728
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... OMIM:617201
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Wide nose, Eosinophilia, Micrognathia, Recurrent pneumonia, Bro... OMIM:618282
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Abnormal form of the vert... ORPHA:581
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Martsolf Syndrome 1
Recurrent respiratory infections, Thoracic scoliosis, Lumbar hyperlordosis, Depressed nasal bridg... OMIM:212720
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Anteverted nares, Depressed nasal... ORPHA:314655
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Mitr... ORPHA:83473
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Atrial septal defect... ORPHA:93946
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Pallor, Hypothyroidism, Hyperplasia of the maxill... ORPHA:231214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Micrognathia,... OMIM:616897
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Depressed nasal bridge, Thickened helices, Posterio... OMIM:610733
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, Choanal atresia, ... OMIM:300968
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Abnormal pinna morphology, Micrognathia, R... ORPHA:3078
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Neutropenia, Abnormal heart morphology ORPHA:79284
Isolated Atp Synthase Deficiency
Respiratory distress, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Hy... ORPHA:254913
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ... ORPHA:398156
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... ORPHA:37553
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Anteverted nares, Sag... OMIM:615879
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... OMIM:610198
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Premature graying of hair, Adult onset sensorineura... ORPHA:90324
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Mitral valve prolaps... ORPHA:90653
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, ... OMIM:603387
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Wheezing, Tricuspid regurgitation, Crackles, Cough, Atelectasis, Mediastinal lymphadenopathy, Leu... OMIM:620233
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Bulbous nose,... OMIM:616682
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Pulmonary hypoplasia, Neonata... OMIM:619003
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Anteverted nares, Depressed nasal bridge, Optic atrophy, Per... OMIM:606812
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Short palm, Neonatal death, Patent foramen ovale, Atelectasis, Patent ductus a... OMIM:269860
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respira... OMIM:614299
Alg3-Cdg
Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endocrine system, Coarctat... ORPHA:79321
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomeli... OMIM:607143
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... OMIM:616037
Noonan Syndrome 5
Mandibular prognathia, Depressed nasal bridge, Thickened helices, Cryptorchidism, Dry skin, Arrhy... OMIM:611553
Immunodeficiency 9
Death in infancy, Respiratory insufficiency due to muscle weakness, Ectodermal dysplasia, Hypopla... OMIM:612782
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Abnormal pinna morphology, Pa... ORPHA:52055
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Limited elbow movement, Cranio... OMIM:265050
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebra... ORPHA:192
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Posteriorly rotated ears, Malar flattening, Pa... OMIM:612582
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficien... ORPHA:207
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot ORPHA:3033
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impairment, Respiratory dis... OMIM:616974
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Ventricular septal defect, Micromelia, Hypoplasia o... OMIM:617895
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arterio... OMIM:106260
Kabuki Syndrome 2
Natal tooth, Micrognathia, Broad nasal tip, Cupped ear, Dental malocclusion, Hip dislocation, Coa... OMIM:300867
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Anteverted nares, Patent ductus arteriosus, Bulbous nose, Optic atroph... OMIM:220500
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... OMIM:620011
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Upper airway obstruction, P... OMIM:612776
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Delayed eruption of perman... OMIM:618506
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bul... ORPHA:485405
Cushing Disease
Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Incre... ORPHA:96253
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... OMIM:619769
Primary Sjögren Syndrome
Normocytic anemia, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis, Leukopenia, Ray... ORPHA:289390
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coa... OMIM:620210
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Arthritis, Acrocya... ORPHA:343
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Kyphosis, Pate... OMIM:617061
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Cutis marmorata, Micrognathia, Patent ductus arteriosus, Arterial ste... ORPHA:1556
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Death in infancy, Ventricular septal defect, Hearing impairment, Micrognathia,... OMIM:208085
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Micrognathia, Hypoplasia of the maxilla, Flexion cont... ORPHA:96334
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, P... ORPHA:48435
Filippi Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Low hanging columella, Opti... OMIM:272440
Noonan Syndrome 13
Prominent metopic ridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryptorchidism... OMIM:619087
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Micrognathia, Atrial septal defect, Small earlobe, Low-set, ... ORPHA:2886
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Genu recurvatum, ... ORPHA:915
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... OMIM:606763
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... OMIM:616367
De Barsy Syndrome
Decreased muscle mass, Congenital hip dislocation, Prominent veins on trunk, Emphysema, Cryptorch... ORPHA:2962
Esophageal Atresia
Subglottic stenosis, Respiratory distress, Maternal diabetes, Bronchitis, Abnormality of the ear,... ORPHA:1199
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity... OMIM:615368
Mosaic Trisomy 16
Abnormal ear morphology, Ventricular septal defect, Maternal diabetes, Abnormality of the nose, L... ORPHA:1708
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... ORPHA:536471
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d... OMIM:617159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Ventri... ORPHA:26793
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Ehlers-Danlos Syndrome, Periodontal Type, 2
Joint dislocation, Prominent superficial veins, Gingival bleeding, Scoliosis, Umbilical hernia, B... OMIM:617174
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Protrusio acetabuli, Arterial tortuosity, Pneumothorax, Retro... OMIM:614816
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the... ORPHA:2462
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Short columella, Pulmonic stenosis, Atrial septal defect, Thic... OMIM:611816
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Dislocat... OMIM:182212
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Bulbo... ORPHA:329224
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Laryngotracheomalacia, Patent foramen ovale, Antev... OMIM:618454
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Orchitis, Angioedema, Vasculitis, Optic atrophy, Erythema, Skin ulce... ORPHA:761
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Anteverted nares, Micromelia, Genu valgum, Hypoplasia of the e... ORPHA:1035
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Atrial septal defect, Vertebral fusion, Pericar... OMIM:139210
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... OMIM:221300
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Mitral regurgitat... ORPHA:313892
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Narrow nasal bridge, Short palm, Ventricular septal defect, Anteverted nare... ORPHA:254346
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Paten... OMIM:617751
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Prominent nasal bridge, Abnormal pinna morphology, Cryptorchidism, Mac... OMIM:617452
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morph... ORPHA:1145
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Short palm, Conductive hearing impairment, Atrial septal defect, Spina bifida oc... OMIM:235510
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... ORPHA:1051
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Ventricular septal defect, Anteverted nares, Abnormal pinna morphology, P... ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... OMIM:300998
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neopl... ORPHA:99889
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Prec... OMIM:304050
Acrocardiofacial Syndrome
Joint dislocation, Death in infancy, Hyperthyroidism, Ventricular septal defect, Truncus arterios... ORPHA:2008
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod... ORPHA:1106
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypopl... OMIM:608328
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Redundant skin, Micrognathia, Hypoplasia of the abd... OMIM:612289
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal pattern of respiration ORPHA:88619
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Scoliosis... OMIM:601216
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... OMIM:616777
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Bilateral cryptorchidism, Protruding ear, Atrial septal ... OMIM:617403
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Shashi-Pena Syndrome
Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad nasal tip, Ky... OMIM:617190
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Palmoplanta... OMIM:616564
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Conductive hearing impairment, Depressed nasal bridge, Pulmonary artery stenosi... OMIM:280000
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... ORPHA:949
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thickened helices, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Cryptorch... OMIM:617506
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Depressed nasal bridge, Cardiac arrest, Myofiber disarray... OMIM:604377
Waardenburg Syndrome Type 3
Narrow nasal bridge, Camptodactyly of finger, Tracheomalacia, Atelectasis, Atrial septal defect, ... ORPHA:896
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial hea... OMIM:605039
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Kyphoscoliosis, Intraventricular hemorrhage, Hearing abnormality, Hip disl... OMIM:616507
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Underdeveloped nasal ala... OMIM:263210
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Wide anterior fontanel, Patent ductus arterio... OMIM:300963
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Adrenal hypoplasia, Micrognathia, Death in childhood, Neonatal respiratory d... OMIM:214100
Kleefstra Syndrome
Mandibular prognathia, Bicuspid aortic valve, Thickened helices, Advanced eruption of teeth, Chro... ORPHA:261494
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca... ORPHA:228190
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Protruding ear, Mitral regurgitation, Aortic root aneu... OMIM:301039
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Abnormal optic disc morphology, Atr... ORPHA:96121
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s... OMIM:166300
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Hearing impairment, Spina bifida, Sco... ORPHA:2345
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... OMIM:619356
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Short toe, Radio... ORPHA:921
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Redundant skin, Protruding ear, Abnormal bleeding, Micr... ORPHA:2953
Scorpion Envenomation
Bundle branch block, Tachypnea, Prominent U wave, Ketonuria, ST segment depression, Glycosuria, A... ORPHA:466677
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruisin... ORPHA:231401
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee flexion contract... OMIM:617402
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Micrognathia, Flexion contracture, ... OMIM:617468
Gaisböck Syndrome
Plethora, Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Overweight,... ORPHA:90041
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Ab... ORPHA:261552
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Underdeveloped nasal... ORPHA:166035
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Lympha... OMIM:617718
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, Atrial septal defec... ORPHA:2745
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
19P13.3 Microduplication Syndrome
Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Underdeveloped nasal alae, P... ORPHA:447980
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Precocious puberty, Optic disc colob... ORPHA:50
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Cohen Syndrome
Ventricular septal defect, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Kypho... ORPHA:193
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Micrognathia, Depressed nasal... OMIM:610759
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Hypoplasia of the maxilla, Micrognathia, Short metatarsal,... ORPHA:439822
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Redundant skin... OMIM:616482
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Depressed nasal tip, Hypoplasia of teeth, Mitral regurgitation, Scoliosis, C... ORPHA:88630
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Recurrent respiratory infections, Skeletal muscle atrophy, Respiratory distr... OMIM:211530
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Stevenson-Carey Syndrome
Anteverted nares, Posteriorly rotated ears, Central hypoventilation, Underdeveloped nasal alae, L... OMIM:611961
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... OMIM:613630
Complement Component 2 Deficiency
Purpura OMIM:217000
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia ORPHA:721
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Abs... OMIM:300514
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Depressed nasal bridge, Cervical kyphosis, Micromelia, Mi... OMIM:256050
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... OMIM:615582
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Elbow dislocation, Abnormal lung loba... ORPHA:2631
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitatio... OMIM:212140
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Intracranial hemorrhage,... ORPHA:447788
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Heart And Brain Malformation Syndrome
Attached earlobe, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Ventricular ... OMIM:616920
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... ORPHA:1529
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Neutropenia, Atrial s... OMIM:618067
Fryns Syndrome
Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Congenital diaphragma... ORPHA:2059
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Micrognathia, Atrial septal defect, Death in infancy, Tricus... OMIM:614866
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Prominent n... ORPHA:85201
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Optic atrophy, Protruding ear OMIM:618737
Kawasaki Disease
Pericarditis, Proteinuria, Abnormal heart valve morphology, Recurrent pharyngitis, Congestive hea... ORPHA:2331
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutro... OMIM:603585
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Tonne-Kalscheuer Syndrome
Decreased testicular size, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia,... OMIM:300978
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Micrognathia, Elbow dis... ORPHA:99776
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Odontochondrodysplasia 1
Delayed eruption of teeth, Death in infancy, Biconvex vertebral bodies, Recurrent respiratory inf... OMIM:184260
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth,... OMIM:619142
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Limb joint contracture, Cryptorchid... ORPHA:505237
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, Short thumb, Abnormal columella... ORPHA:436003
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Depressed nasal ridge, Panhypopituita... ORPHA:2162
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Multiple muscular ventricular septal defects, R... OMIM:615508
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Optic atrophy, Wide nasal bridge, Limited elbow ... OMIM:615236
Char Syndrome
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... ORPHA:46627
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, Patent foramen ovale, Promine... OMIM:617746
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, Low-s... ORPHA:459061
Distal Deletion 10Q
Micrognathia, Prominent nose, Short metatarsal, Protruding ear, Atrial septal defect, Spina bifid... ORPHA:96148
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Cat Eye Syndrome
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... OMIM:115470
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Craniosynostosis... ORPHA:1555
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Myositis, Flexion contracture, Muscle fiber atrophy, ... ORPHA:258
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Neonatal asphyxia, Heart murmur, Hypoplasia of teeth, Microtia, Recurrent otitis ... ORPHA:2728
Wiedemann-Steiner Syndrome
Wide nose, Micrognathia, Broad nasal tip, Contracture of the distal interphalangeal joint of the ... OMIM:605130
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Multiple join... OMIM:245600
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Ventricular septal defect, Anteverted... OMIM:609942
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Ventricular septal defect, ... ORPHA:1425
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Unde... ORPHA:453499
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Promi... OMIM:170390
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproductive cou... ORPHA:36238
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocy... ORPHA:3392
Myh9-Related Disease
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... ORPHA:182050
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Sudden card... OMIM:614921
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... ORPHA:555874
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, De... OMIM:617140
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Ventricular septal defect, Camptodactyly of ... ORPHA:1488
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal ... OMIM:244450
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Myelo... ORPHA:268882
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Craniofacial osteosclerosis, Conductive hearing impairment, Atrial septal de... OMIM:300373
Branchiootic Syndrome
Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t... ORPHA:52429
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Cough, Atrial septal defect, Hypothyroidism, Patent foram... OMIM:620005
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Cryptorchidism,... ORPHA:452
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventricular septal defect, Cutis marmorata, Hydrocephalus, Large earlobe,... OMIM:602501
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Abnormal pinna morphology, Depressed nasal... OMIM:157900
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Aplasia/... ORPHA:2256
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Platyspondyly, Low-set ears ORPHA:93267
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous... ORPHA:369891
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... ORPHA:45452
Weiss-Kruszka Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hear... OMIM:618619
Developmental And Epileptic Encephalopathy 90
Ankle clonus, Apneic episodes in infancy, Atrial septal defect, Hypothyroidism, Limb hypertonia OMIM:301058
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom... OMIM:616589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myo... OMIM:253800
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, T... ORPHA:77259
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosynostosis, Wide nasal bridge... OMIM:314320
Alg9-Cdg
Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Abnormal l... ORPHA:79328
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Bulbous... OMIM:192430
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Hydrocephalus, Dilated cardiomyop... ORPHA:79282
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Ventri... ORPHA:1458
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal a... ORPHA:141127
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Wide nasal bridge, Short hallux, Broad nasal tip OMIM:620393
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dil... ORPHA:367
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Joint contracture, ... OMIM:618005
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Micrognathia, ... OMIM:270450
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Ventricular septal defect, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Sco... OMIM:616449
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Cyst... OMIM:613730
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... OMIM:113000
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Congenital hip dislocation, Lumbar hyperlordosis, Craniosynostosis, Prominent n... OMIM:609625
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Hy... ORPHA:177907
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Anteverted nares, De... ORPHA:97360
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... OMIM:235400
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morp... ORPHA:667
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Depressed nasa... ORPHA:87
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Micrognathia, Cryptorchidism, H... ORPHA:1865
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Abnormality of the temporomandibular joi... ORPHA:137888
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Nonproductive cough, Tricuspid regurgitation, Chronic n... ORPHA:97287
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Prominent metopic ridge, Bicuspid aortic valve, Hearing impairment, Genu v... OMIM:619721
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Abnormal optic disc morphology, Retinal neovasculari... ORPHA:891
Zellweger Syndrome
Death in infancy, Depressed nasal bridge, Ventricular septal defect, Micrognathia, External ear m... ORPHA:912
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, Bicuspid a... OMIM:617744
White-Sutton Syndrome
Mandibular prognathia, Wormian bones, Depressed nasal bridge, Optic nerve hypoplasia, Posteriorly... OMIM:616364
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... OMIM:617194
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Lymphadenopath... ORPHA:142
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Posteriorly r... OMIM:615948
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge, Short 5th finger, Patellar dislocation,... OMIM:618821
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Abnormal cardiac s... OMIM:615009
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Genu varum, Death ... OMIM:274000
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Wi... ORPHA:3338
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Sensorine... ORPHA:36412
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Restrictive ventilatory defect, Men... OMIM:614073
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Redundant neck skin, Delayed... ORPHA:357074
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Recurrent respiratory infections, Ventricular septal def... ORPHA:261330
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Ventricular septal defect, Choanal atresia, ... ORPHA:494344
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Posteriorly rotated ears, Choanal atresia... ORPHA:2759
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Low-set, posteriorly rotated ears, Wide nose, Apnea, Rhabdomyosarcoma, Micr... ORPHA:1052
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge, Splenomegaly, Patent ductus arteriosus, Supernumera... OMIM:617088
Even-Plus Syndrome
Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, Microtia, At... OMIM:616854
Menkes Disease
Intracranial hemorrhage, Wormian bones, Cutis laxa, Death in childhood OMIM:309400
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Conductive hearing impairment, Bulbous nose, ... OMIM:244300
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Lymphadenopathy, Scaling ... ORPHA:293173
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ve... OMIM:619167
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Hearing abnormalit... ORPHA:2077
Monosomy 13Q34
Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Micrognathia, Prominent nose, Broad ... ORPHA:96168
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Short femur, Sho... ORPHA:17
Keutel Syndrome
Sinusitis, Cartilaginous ossification of nose, Pulmonary artery hypoplasia, Emphysema, Depressed ... OMIM:245150
King-Denborough Syndrome
Muscle fiber atrophy, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Broad nasa... OMIM:619542
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Posteriorly rotated ear... OMIM:264480
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Prom... OMIM:610443
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Allergic rhinitis, El... OMIM:618162
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Metopic suture patent to nasal root... ORPHA:3369
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Hemivertebrae, Aspiration pneumonia, Spina bifida occu... ORPHA:79500
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Chops Syndrome
Ventricular septal defect, Anteverted nares, Tracheomalacia, Cryptorchidism, Patent ductus arteri... OMIM:616368
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing OMIM:262800
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Nephrocalcinosis, Atrial septal defect, Failure to thrive, Diabetes ins... ORPHA:500533
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Ani... OMIM:618278
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Encephalocele, Prominent metopic ridge, Posteriorly rotated ears, Choa... OMIM:619148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... OMIM:615156
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Vertebral segmentation defect, Conducti... ORPHA:2990
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multiple small vertebral fract... OMIM:156510
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Anteverted nares, Mi... OMIM:616894
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage, Vertigo, Neoplasm of the lung, Bilateral sensorineural hear... ORPHA:616
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... OMIM:300219
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognath... OMIM:154400
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Hyperlordosis, F... ORPHA:2780
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone co... ORPHA:226313
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Prominent metopic ridge, Ventricular septal defect, Depressed nasal br... OMIM:613457
Costello Syndrome
Redundant neck skin, Limited elbow movement, Micrognathia, Atrial septal defect, Lymphangiectasis... OMIM:218040
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Aspirat... ORPHA:444077
Holoprosencephaly 14
Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal sten... OMIM:619895
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb under... ORPHA:1423
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia OMIM:176630
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Bulbous nose, Scoliosis, Atrial septal defect, Abnormality of the outer ear ORPHA:466926
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... OMIM:130060
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Facial hypotonia, Poor wound healing, Mitral valve prolapse,... OMIM:615539
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Kyphosis, Optic atrophy, Genu valgum, Intracrani... ORPHA:394
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Wide nose, Anteverted nares, Posteriorly rotated e... OMIM:213980
Lambotte Syndrome
Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Macrotia, Convex... OMIM:245552
Menkes Disease
Gastrointestinal hemorrhage, Tarsal synostosis, Micrognathia, Venous insufficiency, Aplasia/Hypop... ORPHA:565
Parkes Weber Syndrome
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Cerebra... ORPHA:90307
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Asplenia, Absent... OMIM:244400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Tracheomalacia... ORPHA:513456
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Depressed nasal bridge, Ventricular septal defect, Sagittal cranio... OMIM:616901
Nelson Syndrome
Increased urinary cortisol level, Striae distensae, Lower limb muscle weakness, Testicular neopla... ORPHA:199244
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Bron... OMIM:208900
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, H... OMIM:609460
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Protr... ORPHA:85279
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Posteriorly rotated ears, Long nose, Patent ductus arteriosus, Bulbous... OMIM:620113
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Cyanosis, ... OMIM:619879
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductu... ORPHA:284984
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo... OMIM:618775
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Anteverted nares,... OMIM:619720
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Microgn... OMIM:300712
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Prominent nasal tip, Ventricular septal defect, Anteverted nares, Kyphosis... ORPHA:464738
Autosomal Recessive Robinow Syndrome
Micrognathia, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Atrial septal d... ORPHA:1507
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wide nasal bridg... OMIM:601499
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, ... OMIM:105650
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Thick nasal alae, Anteverted nares, Depress... ORPHA:1465
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Anteverted nares, Micrognathia, Kyphosis, Cryp... ORPHA:261250
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... ORPHA:2357
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Anteverted nares, Depressed n... ORPHA:1340
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal arteriolar occlusion, Retinal neova... OMIM:193220
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, Hypoplasia of the cochlea, Optic disc coloboma, Cuppe... OMIM:613398
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent joint dislocation, Poor wound healing, Arterial rupture, Scoliosis, Atrial septal defec... OMIM:619115
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxill... OMIM:277600
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Wide anterior fontanel, Hydro... OMIM:207410
Coffin-Siris Syndrome 7
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Depressed nasal br... OMIM:618027
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Micrognathia, Atrial septal defect, Abnormal bleeding, Juvenile... OMIM:163950
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea, Bronchiectasis, Abnormal pulmon... OMIM:612387
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
C Syndrome
Short metacarpal, Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Microgna... OMIM:211750
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... OMIM:101800
Cerebrofacioarticular Syndrome
Tracheomalacia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Wide... ORPHA:314679
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Sensorineural hearing impairment, Arterial rupture, Myop... ORPHA:300179
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly... ORPHA:51608
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of ... OMIM:614749
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Prominent superficial veins, Short metacarpal, Depressed nasal bridge,... OMIM:612350
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Prominent nasal bridge, Narrow nasal ridge... OMIM:616914
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:590
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Malar flatten... OMIM:218350
Zaki Syndrome
Wide nose, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arterio... OMIM:619648
Fanconi Anemia, Complementation Group F
Atrial septal defect, Failure to thrive, Pneumonia, Decreased response to growth hormone stimulat... OMIM:603467
Radio-Tartaglia Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Prominent nasa... OMIM:619312
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Hydrocephalus, Abnorm... ORPHA:538
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity, Micrognathia, Descending thoracic a... OMIM:609192
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... ORPHA:75249
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Supernumerary nipple, Wi... OMIM:257920
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Conductive hearing impairme... OMIM:607872
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Hydrocephalus, Persistent left superior vena cava, Tr... OMIM:314390
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Choanal stenosis, Myeloid leukemia, Streak ovary, Wide anteri... ORPHA:798
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Micrognathia, Depressed nasal... OMIM:114290
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Tyshchenko Syndrome
Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, Low-se... OMIM:615102
Tetanus
Respiratory distress, Tachycardia, Trismus, Tachypnea, Hypertension, Abnormal autonomic nervous s... ORPHA:3299
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Redundant skin, Micrognathia, Prominent veins on trunk, Kn... ORPHA:536532
Coffin-Siris Syndrome 4
Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Depr... OMIM:614609
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Micrognathia, Dental malocclusion, Optic ... ORPHA:329178
Coffin-Siris Syndrome 5
Wide nose, Depressed nasal bridge, Atrial septal defect, Thick nasal alae, Short distal phalanx o... OMIM:616938
Omodysplasia 1
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Depressed nasal bridge, R... OMIM:258315
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Redundant neck skin, Anteverted nares, Depressed nasal bridge,... OMIM:123790
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Cupped ear, Small thenar eminence, Joint contracture of the ... OMIM:618914
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Angiokeratom... ORPHA:324
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Shoulder dislocation, Choanal stenosis, Atrial septal defect, Up... OMIM:607323
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Cutis marmorata, Epistaxis, Congestive hear... ORPHA:727
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu va... OMIM:608154
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Macroglossia, Transposition of the great ar... OMIM:616789
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic lung disease, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnorm... ORPHA:319487
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Micrognathia, Abnormal cardiac ventricle ... ORPHA:284979
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Megalencephaly
Atrial septal defect ORPHA:2477
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Patent ductus arteriosus, Dent... OMIM:613680
Joubert Syndrome 3
Central apnea, Anteverted nares, Episodic tachypnea, Wide nasal bridge, Low-set ears, Atrial sept... OMIM:608629
Alazami Syndrome
Wide nose, Cutis marmorata, Low-set ears, Scoliosis, Atrial septal defect, Malar flattening ORPHA:319671
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Conductive hearing impai... ORPHA:1131
Superficial Siderosis
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Partial anosmia, Vertigo,... ORPHA:247245
Mucolipidosis Type Ii
Knee flexion contracture, Otitis media, Conductive hearing impairment, Patent foramen ovale, Tela... ORPHA:576
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Erythema, Flexion c... OMIM:614653
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, ... ORPHA:2437
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size ORPHA:93950
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Lambert Syndrome
Malar flattening, Branchial anomaly, Ventricular septal defect, Jaundice ORPHA:1296
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Atrial sept... OMIM:150250
Cardiofaciocutaneous Syndrome 1
Peripheral axonal neuropathy, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears,... OMIM:115150
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Situs inversus totalis, Asplenia, ... OMIM:208540
Zygomycosis
Sinusitis, Rhinorrhea, Acute infectious pneumonia, Neutropenia, Cough, Mediastinal lymphadenopath... ORPHA:73263
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... ORPHA:794
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
8P11.2 Deletion Syndrome
Hemolytic anemia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Micrognathia, External e... ORPHA:251066
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Lymphopenia, Adrenal cortical sclerosis, Severe B lymphocytopenia, A... OMIM:102700
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hernia, Stenosis of the... OMIM:619699
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Broad nasal tip, Precocious puberty... ORPHA:3306
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi... OMIM:616531
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ... OMIM:618021
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Congenital diap... OMIM:614080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... ORPHA:90795
Trisomy 1Q
Microretrognathia, Wide nose, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of... ORPHA:261344
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, Hy... ORPHA:2316
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, ... ORPHA:2038
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphology, Hypoplas... ORPHA:178303
Braddock-Carey Syndrome 1
Aortic valve prolapse, Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Hyp... OMIM:619980
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Death in infancy, Hemolytic anemia, Macrocytic anemia, Skel... OMIM:615512
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Advanced ossification of carpal bones, Stillbir... OMIM:215045
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respira... OMIM:607598
Farber Disease
Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, CNS foam cells, Nodular p... ORPHA:333
Meier-Gorlin Syndrome 7
Ventricular septal defect, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Heart bl... OMIM:617063
Restrictive Dermopathy 1
Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Flexion contracture, Scali... OMIM:275210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Conductive hearing impairme... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Conductive hearing impairme... ORPHA:352665
Rabson-Mendenhall Syndrome
Mandibular prognathia, Fasting hyperinsulinemia, Premature graying of hair, Atrial septal defect,... ORPHA:769
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Micrognathia, Right atrial enlargement, Flexion contracture, Microretrogn... OMIM:614008
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, Still... OMIM:236500
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Severe sensorineural hearing impairment, Atrioventric... ORPHA:500
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Depressed nasal bridge, Micromelia, Micrognathia, Hydr... OMIM:241800
Pagod Syndrome
Encephalocele, Death in infancy, Sudden cardiac death, Spina bifida, Situs inversus totalis, Abno... ORPHA:991
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Depressed nasal bridge, Ventricular septal defect, Abnormality of neut... OMIM:169400
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... OMIM:300455
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, My... ORPHA:292
Hamamy Syndrome
Hypoparathyroidism, Prolonged QRS complex, Anteverted nares, Craniosynostosis, Micrognathia, Micr... OMIM:611174
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Macrotia ORPHA:261304
Jacobsen Syndrome
Recurrent respiratory infections, Anteverted nares, Ventricular septal defect, Depressed nasal br... OMIM:147791
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Kyphoscoliosis, Camptodactyly... OMIM:614815
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Atel... ORPHA:2314
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology, Camptodactyly OMIM:246560
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial inf... OMIM:150230
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ear, Tric... ORPHA:2556
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... ORPHA:2791
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev... ORPHA:950
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Prominent nasal bridge, Long nose, Tracheobronchomalacia, Scoliosis, Short palm... OMIM:619184
Noonan Syndrome 7
Depressed nasal bridge, Thickened helices, Large earlobe, Pulmonic stenosis, Scoliosis, Atrial se... OMIM:613706
Achondroplasia
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia,... OMIM:100800
Donnai-Barrow Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragm... ORPHA:2143
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous sy... ORPHA:83601
Mosaic Trisomy 1
Microretrognathia, Thoracic scoliosis, Ventricular septal defect, Depressed nasal bridge, Camptod... ORPHA:1692
Fibrochondrogenesis 1
Short palm, Patent foramen ovale, Widely patent sagittal suture, Posterior vertebral hypoplasia, ... OMIM:228520
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, Optic... OMIM:123500
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Retrognathia, Varicose veins, Campto... OMIM:618343
Marden-Walker Syndrome
Decreased muscle mass, Anteverted nares, Dextrocardia, Micrognathia, Kyphosis, Wide anterior font... OMIM:248700
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Tubulointerstitial nephritis, Death in childhood, Hypertrophic cardiomyopathy, Failure t... OMIM:614582
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Short palm, Tarsal synostosis, Short hallux, Micrognathia, Hypop... ORPHA:363417
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Large fleshy ears, Atrial septal defect, Prominent superior crus of antihelix, Patent foramen ova... ORPHA:280633
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Camptodactyly of toe,... ORPHA:261337
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Depressed nasal bridge, Craniosynostosis, Micrognathia, Precocious puberty, P... ORPHA:369837
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Ventricular septal defect, Bicuspid ... ORPHA:457279
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Short tibia, Death in infancy, An... OMIM:601559
15Q14 Microdeletion Syndrome
Ventricular septal defect, Prominent nasal bridge, Kyphosis, Scoliosis, Low-set ears, Atrial sept... ORPHA:261190
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Decreased response ... OMIM:610829
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Recurrent respiratory infections, Distal lower limb amyotrophy, Facial hyp... OMIM:300534
Lymphatic Malformation 6
Abnormal pinna morphology, Micrognathia, Splenomegaly, Cupped ear, Hydrocele testis, Varicose vei... OMIM:616843
Granulomatosis With Polyangiitis
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmon... OMIM:608710
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hyperlordosis, Posteriorly ro... OMIM:617450
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Rhizomelia, Micrognathia, Congestive heart failure, Bulb... OMIM:616271
Folinic Acid-Responsive Seizures
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Apnea ORPHA:79097
Otopalatodigital Syndrome Type 2
Micrognathia, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones,... ORPHA:90652
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Al Kaissi Syndrome
Torticollis, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Broad n... OMIM:617694
Macs Syndrome
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Redund... OMIM:613075
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Abnormal nasal... ORPHA:404440
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Prominent metopic ridge, Dilation of Virchow-Robin spaces, Congenital hip ... OMIM:619512
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Micrognathia, Microcytic anemia, Cryptorchidism, Short toe, Ap... ORPHA:98791
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:109120
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal... ORPHA:254892
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Pulmonary hypoplasia, Arthrogryposis ... OMIM:601809
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Congenital hip dislocation, Decreased muscle mass, Redundant skin, N... OMIM:612940
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar... OMIM:600268
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Partial absence of toe, Anteverted nares, Patent ductus art... ORPHA:955
Costello Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel morphology, ... ORPHA:3071
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid fa... OMIM:123700
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Mitral valve prolapse, Wormian b... OMIM:166200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Otitis media, Conductive hearing impairment, Atrial septal defect, Cryptor... ORPHA:353281
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Focal Dermal Hypoplasia
Narrow nasal bridge, Ventricular septal defect, Telangiectasia of the skin, Abnormal dental ename... ORPHA:2092
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Redundant neck skin, Ventricular septal defect, Micrognathia, Thyroid lymphangi... OMIM:235255
Benign Schwannoma
Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, A... ORPHA:252164
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic lung disease, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papi... ORPHA:97290
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Abnormality of the adrenal gla... ORPHA:139466
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, 11 pairs of ribs, Depressed nasal bridge, Ventricular septal defect, Microgn... OMIM:620073
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... ORPHA:93357
Vascular Hyalinosis
Hematochezia, Premature graying of hair, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Disc-like vertebral bodies, Depressed nasal bridge, Ovoid vertebral bodies,... OMIM:151210
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Micror... OMIM:270400
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... OMIM:619656
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Depressed nasal bridge, Subcut... ORPHA:79076
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Wide cranial sutures, Hyperparathyroidism, Dep... OMIM:618188
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Depressed nasal bridge, Carious teeth, Short metatarsal, ... OMIM:617102
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Rh... OMIM:222765
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Depressed nasal bridge, Rhizomelia, Trach... OMIM:156550
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Atrial septal... ORPHA:500150
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Ventricular septal defect, Sensorineural hearing impairment, Fused cer... OMIM:214300
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Conductive hearing... ORPHA:261197
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Cutis marmorata, Abnormal pulmonary valve morphology,... ORPHA:974
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... OMIM:301030
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Protruding ear, Pulm... OMIM:619123
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Supernumera... OMIM:612530
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Depressed... OMIM:600373
Cowden Syndrome 5
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... OMIM:615108
Fanconi Anemia
Micrognathia, Leukopenia, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, H... ORPHA:84
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Supernum... ORPHA:217346
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobation, Abnormal form of the verte... ORPHA:818
Filippi Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... ORPHA:3255
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Anteverted nares, Craniosynostosis, Broad nasal tip, Cryptorch... ORPHA:363611
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Anteverted nares, Foot joint contracture, Micrognathia, Cryptorchidism... ORPHA:444072
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Vertigo, Hypotension, Cough ORPHA:99825
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodie... ORPHA:2710
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears,... OMIM:617360
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Neuroma, Scoliosis, Vascular skin abnormality, Venous malformation ORPHA:221061
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Depressed nasal bridge, Kyphoscoliosis, Patent ductus arteriosus, Sensorineural hearing impairmen... ORPHA:397709
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Anteverted nares, Micrognathia, ... OMIM:164280
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, ... OMIM:615546
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bu... ORPHA:481152
Proteus-Like Syndrome
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Antevert... ORPHA:2969
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Congenital diaphragmatic hernia, Micrognathi... ORPHA:1915
Charge Syndrome
Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Holoprosencephaly, Low-... ORPHA:138
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Cryptorchidism, Recurrent pneumonia, ... OMIM:619314
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Tracheobronchomalacia, Protruding ear, Atrial septal defect, Anteverted nares, Depr... OMIM:613458
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Coarctat... ORPHA:268249
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Short... ORPHA:457395
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness, S... OMIM:300266
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f... ORPHA:199241
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... OMIM:164210
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... OMIM:160900
Restrictive Dermopathy
Multiple joint contractures, Micrognathia, Scaling skin, Atrial septal defect, Aplasia/Hypoplasia... ORPHA:1662
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... ORPHA:1302
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Micromelia, Cryptorchidism, Hypopla... ORPHA:2772
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
2Q31.1 Microdeletion Syndrome
Short palm, Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Microgna... ORPHA:251014
Arachnoid Cyst
Encephalocele, Facial palsy, Subarachnoid hemorrhage, Abnormality of the endocrine system, Crania... ORPHA:2356
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... ORPHA:3472
Cowden Syndrome 6
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... OMIM:615109
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Limb hypertonia, Respiratory fa... OMIM:620327
Lymphatic Malformation 13
Depressed nasal bridge, Unilateral deafness, Patent ductus arteriosus, Hydrocele testis, Mitral r... OMIM:620244
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Genu valgum, Limb undergrowth, Left superior vena cava draining to coronar... OMIM:619143
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal lung lobatio... OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Stillbirth, Aortic ... OMIM:615415
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Dentinogenesis Imperfecta
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliterat... ORPHA:49042
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Sudden cardi... ORPHA:537
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Microgna... ORPHA:96097
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Short femur, Cardiomegaly, Pneumothorax, Pulmonary... OMIM:620306
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Proteinuria, Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundic... OMIM:613404
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia,... OMIM:617925
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Abnormal med... ORPHA:79243
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Atrial septal defect, Slender build, Diabetes insipidus OMIM:611087
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Skeletal muscle atrophy, Streak ovary, Abnormal perip... ORPHA:168563
Tetrasomy 9P
Joint dislocation, Myositis, Glue ear, Micrognathia, Patent foramen ovale, Amelogenesis imperfect... ORPHA:3310
Keipert Syndrome
Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypoplasia of the distal ph... ORPHA:2662
Al-Raqad Syndrome
Atrial septal defect, Short nose, Low-set ears OMIM:616459
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... ORPHA:391487
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Micrognathia, Flexion contracture, Generalized amyotrop... OMIM:620369
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Redundant skin, Congenital diaphragmatic hernia, Flexion contrac... ORPHA:171719
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Anteverted nares, Cryptorchidism, Conotruncal defect, Coarctation of aorta,... ORPHA:96147
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Vertigo, Hypoxemia, Syncope, Palpitations, ... ORPHA:464453
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Narrow nasal bridge, Hip contracture, Wide cranial sutures, Interphala... OMIM:259600
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Ventricular septal defect, Macrotia, Optic atrophy, Hypoplasia of teeth, Short ... OMIM:234050
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... OMIM:224690
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenom... OMIM:602450
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Shor... ORPHA:1519
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... OMIM:245650
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... OMIM:255320
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Scoliosis OMIM:300676
Van Maldergem Syndrome 1
Wide cranial sutures, Short fourth metatarsal, Tracheomalacia, Micrognathia, Hypoplasia of the ma... OMIM:601390
Cranioectodermal Dysplasia 2
Micrognathia, Ectodermal dysplasia, Atrial septal defect, Patent foramen ovale, Simple ear, Depre... OMIM:613610
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... OMIM:615888
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Pallor... ORPHA:124
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Absent radius... ORPHA:3320
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... ORPHA:306542
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... ORPHA:96129
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left hear... OMIM:617660
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryp... OMIM:257300
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Anteverted nares, Abnormal ... OMIM:610253
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Pediatric-Onset Graves Disease
Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Congestive heart failure, T... ORPHA:525731
Zika Virus Disease
Miscarriage, Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, Abnormal optic disc mor... ORPHA:448237
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:619267
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Depressed nasal ridge, Neonatal death, Pterygium, Patent foramen ovale,... OMIM:256520
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Depressed nasal bridge, Kyphoscoliosis, Sensorineural hearing impairment, Hyposegmentation of neu... OMIM:620075
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Precocious puberty, ... ORPHA:2588
Gabriele-De Vries Syndrome
Posteriorly rotated ears, Aortopulmonary collateral arteries, Facial hypotonia, Broad nasal tip, ... OMIM:617557
Ververi-Brady Syndrome
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Cupped ear, Transposition of the great ... OMIM:617982
Turnpenny-Fry Syndrome
Mandibular prognathia, Conductive hearing impairment, Atrial septal defect, Hypoplasia of the pri... OMIM:618371
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Adrena... OMIM:157170
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Kyphosis, Patent ductus arteriosus, Varicose veins, Chyl... OMIM:153400
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Patent foramen ovale, Hypothyroidism, Simple ear, Anteverted nares,... OMIM:619325
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Retrognathia, Scoliosis, Cond... ORPHA:561
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent na... OMIM:610828
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctati... ORPHA:42775
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal cartilage morphology, Abno... ORPHA:2347
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, Hyperlordosis, Mitral valve prolapse, Scoliosis, Atrial ... OMIM:300986
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... ORPHA:1307
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... OMIM:612394
Agel Amyloidosis
Proteinuria, Respiratory tract infection, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, C... ORPHA:85448
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ky... OMIM:300967
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... ORPHA:245
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Erythema, Angioedema, Upper airway obstructi... ORPHA:100057
Degcags Syndrome
Micrognathia, Prominent nose, Premature graying of hair, Leukopenia, Iron deficiency anemia, Pall... OMIM:619488
Noonan Syndrome 14
Aortic regurgitation, Lymphopenia, Scapular winging, Posteriorly rotated ears, Prominent nasal br... OMIM:619745
Aarskog-Scott Syndrome
Short palm, Decreased serum testosterone concentration, Anteverted nares, Elevated circulating lu... OMIM:305400
Floating-Harbor Syndrome
Enlarged joints, Hypoplasia of the maxilla, Long nose, Conductive hearing impairment, Atrial sept... ORPHA:2044
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia OMIM:618174
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm... ORPHA:436252
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Apnea, Aspiration pneumonia, Atrial septal defect, Hypothyroidism, Patent ... ORPHA:438213
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... OMIM:601357
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Cowden Syndrome 1
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... OMIM:158350
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Abnormal heart morphology, Emphysema OMIM:614100
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Op... OMIM:610505
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wide... OMIM:224410
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... ORPHA:77298
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... OMIM:600901
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Genu recurvatum, Mitral valve prolapse, Mitral regurgitation, Bruising susc... OMIM:225320
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... ORPHA:533
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Narrow nose, Underdeveloped nas... OMIM:164200
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macrotia ORPHA:93945
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Subvalvular aortic... OMIM:613001
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, Dyspnea, Optic atrophy, Respiratory failure, Retrognathia ORPHA:2707
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli... ORPHA:79474
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist ... OMIM:268300
Singleton-Merten Syndrome 1
Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Muscle fiber atroph... OMIM:182250
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Cong... OMIM:606164
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta, Low-set, posteriorly rotated ears ORPHA:2475
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontanelle, Micrognathia, Redu... OMIM:225410
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Patent ductus arteriosus, Aplasia/Hypoplasia of the nasal bone, Conduc... ORPHA:2095
Atelosteogenesis, Type Iii
Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Rhizomelia, Micrognathia... OMIM:108721
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Protruding ear, Atrial septal defect, Abnormal dental pulp morphology, S... ORPHA:363700
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... ORPHA:3236
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Stroke, Cerebral ischemia ORPHA:927
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Depressed nasal bridge, Butterfly vertebral ar... OMIM:118450
Hardikar Syndrome
Atrial septal defect, Patent foramen ovale, Thoracolumbar scoliosis, Portal hypertension, Patent ... OMIM:301068
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... OMIM:617137
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Geroderma Osteodysplasticum
Mandibular prognathia, Beaking of vertebral bodies, Kyphoscoliosis, Progeroid facial appearance, ... OMIM:231070
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Vertebral segment... OMIM:312870
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ... OMIM:231680
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ventricular septal defect, Anteverted nares, Splenomegaly, Leukocyt... OMIM:615673
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip ORPHA:2776
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Arthrogryposis multiplex c... OMIM:614961
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marm... OMIM:100300
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Dislocated radial head, Ante... OMIM:102500
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Micro... OMIM:613804
Kapur-Toriello Syndrome
Ventricular septal defect, Posteriorly rotated ears, Bulbous nose, Patent ductus arteriosus, Atre... ORPHA:2328
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... OMIM:147920
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Ritscher-Schinzel Syndrome 3
Death in infancy, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel,... OMIM:619135
Donnai-Barrow Syndrome
Diaphragmatic eventration, Depressed nasal bridge, Ventricular septal defect, Posteriorly rotated... OMIM:222448
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Posteriorly rotated ears, Abnormal ... ORPHA:228396
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Prominent nasal bridge, Low-set ears, Limb hypertonia OMIM:618480
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Wide nose, Bicuspid aortic valve, Depressed nasal bridge, Narrow nose, Broad nasal tip, Valvular ... OMIM:300707
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Otitis media, Conductive hearing impai... OMIM:122470
Vici Syndrome
Lymphopenia, Wide nose, Recurrent respiratory infections, Depressed nasal bridge, Micrognathia, C... OMIM:242840
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood, Thrombocytopenia OMIM:615597
Malaria
Anemia, Respiratory distress, Thrombocytopenia ORPHA:673
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Myelomeningocele, Absent or minimally ossified vertebral bodi... ORPHA:66637
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Small for gestational age, Hypergonadotropic hypogonadis... OMIM:227645
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Distal Deletion 6P
Short palm, Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nas... ORPHA:96125
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Long no... OMIM:257850
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Prominent metopic ridge, Hyperthyroidism, Ventric... ORPHA:488632
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, External ear malform... ORPHA:2673
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Thrombocytopenia, Jaundice, Abnormal respi... ORPHA:90062
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... OMIM:227650
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Diabetes insipidus, Campt... ORPHA:391474
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pa... OMIM:277380
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impair... OMIM:615219
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Otitis media, Atrial septal defect, Conductive hearing impai... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Otitis media, Atrial septal defect, Conductive hearing impai... ORPHA:353277
Dpagt1-Cdg
Prolonged QT interval, Flexion contracture, Optic atrophy, Stroke-like episode, Intracranial hemo... ORPHA:86309
Neurocardiofaciodigital Syndrome
Optic disc pallor, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Atrial se... OMIM:619869
Marfan Syndrome
Skeletal muscle atrophy, Limited elbow movement, Micrognathia, Emphysema, Dilatation of an abdomi... ORPHA:558
Galloway-Mowat Syndrome 7
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Dilated cardiomyopathy, Cubitus valgus OMIM:618348
16P13.11 Microdeletion Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Cry... ORPHA:261236
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Choanal atresia, Abnormal dental enamel morphology, Decreased re... ORPHA:1896
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Congenital dia... OMIM:613406
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Mac... OMIM:600460
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the muscul... ORPHA:1101
Rhabdoid Tumor
Respiratory insufficiency, Lymphadenopathy, Anemia, Hypertension, Internal hemorrhage, Thrombocyt... ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Skeletal muscle hy... OMIM:619714
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Fryns Syndrome
Microretrognathia, Ectopic pancreatic tissue, Aganglionic megacolon, Ventricular septal defect, A... OMIM:229850
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... ORPHA:373
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Hemiverteb... OMIM:261540
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... OMIM:613803
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wav... ORPHA:358
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Communicating hydrocephalus, Vertigo, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Ventricular septal... OMIM:117650
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Hearing impairment, Micrognathia, Situs inversu... OMIM:309500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... OMIM:619272
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia,... OMIM:616975
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Congenital hip dislocation, Prominent nose, Atrial septal defect, Low-set, ... ORPHA:480880
Carpenter Syndrome 2
Bilateral cryptorchidism, Knee flexion contracture, Protruding ear, Atrial septal defect, Diaphra... OMIM:614976
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Delayed cranial sutu... ORPHA:90349
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ... OMIM:609945
Orofaciodigital Syndrome V
Recurrent respiratory infections, Aganglionic megacolon, Ventricular septal defect, Unilateral cr... OMIM:174300
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsa... OMIM:619841
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Flexion contracture, Irregular vertebral endplat... OMIM:143095
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Ano... OMIM:616462
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Pterygium... OMIM:263650
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S... ORPHA:457351
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Broad columella, Low-set, posteriorly rotated ears, Death ... ORPHA:2308
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Sensorineural hearing impairment, Flexion contracture,... ORPHA:544503
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... OMIM:611134
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ... OMIM:619991
Whim Syndrome
Lymphopenia, Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recur... ORPHA:51636
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Orchitis, Recurrent pharyngitis, Abnormal sacroiliac joint morphology, Va... ORPHA:32960
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodacty... ORPHA:88628
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... OMIM:611773
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Dyspnea, Weight l... ORPHA:79430
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Decreased testicular size, Ventricular septal defect, W... ORPHA:459070
Primary Triglyceride Deposit Cardiomyovasculopathy
Diabetes mellitus, Angina pectoris, Splenomegaly, Sensorineural hearing impairment, Vacuolated ly... ORPHA:565612
Coccidioidomycosis
Respiratory distress, Pericarditis, Eosinophilia, Pneumonia, Abnormality of the endocrine system,... ORPHA:228123
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Ventricular septal defect, Posteriorly rotated ear... ORPHA:1780
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Conductive hearing... OMIM:304120
Trichothiodystrophy
Joint dislocation, Multiple joint contractures, Protruding ear, Thoracic kyphosis, Neutropenia, P... ORPHA:33364
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Spin... ORPHA:1393
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Atrial septal ... OMIM:615873
Dysostosis, Stanescu Type
Narrow nasal bridge, Persistent open anterior fontanelle, Abnormal dental enamel morphology, Micr... ORPHA:1798
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Sensorineural hearing impairment, Wide na... ORPHA:250989
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Bilateral crypto... ORPHA:434179
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Aspiration, Cardio... ORPHA:2131
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, Atrial septal defect, Pa... ORPHA:466791
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Cyst of the ductus choledoc... OMIM:619480
Rin2 Syndrome
Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Scoliosis, Umbilical hernia, Brui... ORPHA:217335
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated... ORPHA:994
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Kyphoscoliosis, Prominent nose, Flat acetabular roof, Abnormal mandible condyl... ORPHA:2976
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Broad nasal tip, Micrognathia, Pancreatic lymphan... ORPHA:1655
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosp... OMIM:267010
Meester-Loeys Syndrome
Joint dislocation, Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, D... OMIM:300989
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependent diabetes mel... ORPHA:96191
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Dyspnea, Abnormality of t... ORPHA:3015
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Abnormal heart valve morphol... ORPHA:280
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... OMIM:119600
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... OMIM:101600
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Shor... OMIM:614207
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Delayed closure of the a... OMIM:618460
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bulbous nose, Dental malocclus... OMIM:606232
Succinic Acidemia
Respiratory distress OMIM:600335
Osteoglophonic Dysplasia
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... OMIM:166250
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Sensorineural hearing impairment, Concave nasal ridge, Atrial septal de... OMIM:602482
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Sensorineura... OMIM:619575
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia, Abnormal antihelix morphology, Platyspondyly, Thorac... ORPHA:85194
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Rhizomelia, Prominent nose, Cryptorchidism, Patent... OMIM:616300
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... OMIM:134780
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Hypoplastic facial bones, Short clavicles, Con... OMIM:619793
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pulmonary artery sli... OMIM:235730
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares,... OMIM:617180
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Ventricula... OMIM:301044
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Scoliosis OMIM:617635
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Conductive hearing impairment, Atrial sep... OMIM:136140
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Erythema, Depressed nasal ridg... ORPHA:3474
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopath... ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv... OMIM:614947
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... ORPHA:881
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Hydrocephalus, Genu valgum, Short ribs OMIM:615630
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Anotia, Microtia, third degree, Ap... ORPHA:2554
Van Den Ende-Gupta Syndrome
Micrognathia, Hypoplasia of the maxilla, Knee flexion contracture, Protruding ear, Camptodactyly ... OMIM:600920
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia, Micrognathia OMIM:614526
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Congestive heart failure, Cardiac myxoma, Schw... OMIM:160980
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Optic atrophy, Thrombocytopenia ORPHA:370924
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, ... OMIM:618733
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... OMIM:245590
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Convex nasal ridge ORPHA:1540
Osteogenesis Imperfecta, Type X
Respiratory distress, Thoracic scoliosis, Short femur, Rhizomelia, Micromelia, Micrognathia, Recu... OMIM:613848
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Hypereosinophilia, Abnormal aortic arch morphology, Ascending t... ORPHA:449400
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Choanal atresia,... ORPHA:3380
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Poor wound healing, Mitral valve prolapse, ... OMIM:606408
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Cryptorchidism,... ORPHA:191
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right atrial enlargement, Umbilical hernia, Pulmonic stenosis, Pulmo... OMIM:616028
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media, Aspiration pneu... ORPHA:99772
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears OMIM:167730
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Neurooculorenal Syndrome
Subglottic stenosis, Mixed hearing impairment, Decreased circulating cortisol level, Ectopic post... OMIM:620305
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Prominent nasal bridge, Ankle... ORPHA:464311
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Mohr Syndrome
Short palm, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, Bif... OMIM:252100
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Redundant skin, Osteoarthritis, Protruding ear, In... ORPHA:286
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Flexion contracture, Irregular vertebral endplates, Atrial s... OMIM:271640
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Micrognathia, Flexion contracture,... OMIM:154700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Patent ductu... ORPHA:2473
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Posteriorly rotated ears, Carious teeth, Sm... OMIM:619229
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge, Short distal phalanx of toe,... ORPHA:1292
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cupped ear, Microtia, Low-set ears, Overfolded helix OMIM:609654
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... ORPHA:560
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Anteverted nares, Thrombocytopenia, Bulbous nose, Short... ORPHA:261323
Bangstad Syndrome
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, C... OMIM:210740
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Ecto... OMIM:225500
Incontinentia Pigmenti
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Camptod... ORPHA:464
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Skeletal muscle hypertrophy,... OMIM:617164
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho... OMIM:183900
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi... OMIM:178110
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... OMIM:617666
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Anteverted nares, Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary h... OMIM:602088
Fanconi Anemia, Complementation Group D2
Anemic pallor, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Cryptorchidism, Pat... OMIM:227646
Aase-Smith Syndrome I
Death in infancy, Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion co... OMIM:147800
Retinoblastoma
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblastoma, Leiomyosarcom... ORPHA:790
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous... OMIM:619103
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Kury-Isidor Syndrome
Anteverted nares, Ventricular septal defect, Low-set ears, Scoliosis, Recurrent otitis media OMIM:619762
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia, Abnormality of the ova... ORPHA:2975
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... OMIM:113650
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Anteverted nares, Prominent nose, Patent ductus arteriosus, Ach... OMIM:618076
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Upper limb undergrowth, Protr... ORPHA:96201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent... OMIM:300868
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Abnormality of the knee, Wide nose, Lumbar hyperlordosis, Ventricular ... ORPHA:251028
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ... ORPHA:464306
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Microcytic anemia,... OMIM:619525
Distal Deletion 12Q
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Mat... ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Thoracolumbar kyphoscol... OMIM:212066
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Supernumerary nipple, Underdeveloped nasal alae, Hypoplasia of the maxill... OMIM:129400
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Aqueductal stenosis,... ORPHA:93259
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Anteverted nares, Depressed nasal bridge, Aplastic clavicle, Micro... ORPHA:50945
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Polycystic ovaries, Short columella... ORPHA:1770
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Anteverted nares,... OMIM:209885
Meckel Syndrome, Type 1
Accessory spleen, Natal tooth, Occipital encephalocele, Camptodactyly of finger, Adrenal hypoplas... OMIM:249000
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Loeys-Dietz Syndrome
Abnormal bleeding, Joint dislocation, Striae distensae, Cardiac arrest, Craniosynostosis, Arteria... ORPHA:60030
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Proboscis, ... ORPHA:141099
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... ORPHA:86839
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Early onset of sexual matu... OMIM:194050
Trichinellosis
Facial palsy, Trismus, Vertigo, Retinal hemorrhage, Central retinal artery occlusion, Tinnitus ORPHA:863
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... ORPHA:91347
Isolated Cleft Lip
Situs inversus totalis, Abnormal Eustachian tube morphology, Supernumerary maxillary incisor, Con... ORPHA:199302
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Micrognathia, Abnormality of the elbo... ORPHA:1486
Autosomal Dominant Cutis Laxa
Redundant neck skin, Genu recurvatum, Redundant skin, Protruding ear, Emphysema, Prematurely aged... ORPHA:90348
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Micromelia, Absent thumb, Humeror... OMIM:251230
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma... OMIM:612731
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Scoliosis, Low-set ears, Hyp... OMIM:618653
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Craniosynostosis, Underdeveloped nasal alae, Microgn... OMIM:250410
Choanal Atresia
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Craniosyno... ORPHA:137914
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... ORPHA:167
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anterio... OMIM:206900
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Diabetes mellitus, Telangiectasia of ... ORPHA:1775
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... OMIM:274300
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thenar muscle atrophy, Flexion contracture, Platyspondyly, Short femoral neck, Bruising susceptib... ORPHA:157965
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Dyspnea,... ORPHA:255210
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Breast apl... ORPHA:276413
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Thyroiditis, ... ORPHA:83471
Ivic Syndrome
Limited elbow movement, Pectoralis major hypoplasia, Hypoplasia of the ulna, Short thumb, Patent ... OMIM:147750
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... ORPHA:1546
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Cardiores... ORPHA:31824
Wilson Disease
Thrombocytopenia, Splenomegaly, Jaundice, Increased body weight, Weight loss, Anemia, Failure to ... ORPHA:905
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, Aortic root aneurysm, Type II... OMIM:618891
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Pulmonary hypoplasia, Neona... OMIM:253310
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... OMIM:139090
Axenfeld-Rieger Syndrome
Depressed nasal bridge, Redundant skin, Hypoplasia of the maxilla, Wide nasal bridge, Abnormality... ORPHA:782
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Recurrent respiratory infections, Premature pubarche, Precocious puberty, Ky... ORPHA:398069
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect, Spina bifida occulta, Dislocated radial he... OMIM:135900
Robin Sequence With Cleft Mandible And Limb Anomalies
Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, Short tibia, Microretrog... OMIM:268305
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... OMIM:274150
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Dental mal... ORPHA:199306
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ... ORPHA:705
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Progressive h... OMIM:620166
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Incontinentia Pigmenti
Delayed eruption of teeth, Eosinophilia, Kyphoscoliosis, Supernumerary nipple, Leukocytosis, Eryt... OMIM:308300
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Recurrent pneumonia, Patent foramen ovale, Hydronephrosis OMIM:619179
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Cardiorespirato... ORPHA:93296
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Prolonged bleeding time, Rhizomelia, Conductive hearing impairment, Platyspond... OMIM:616229
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Congenital diaphragmatic hernia, Micromelia, Aplastic clavicle, Hydroceph... OMIM:616546
Sotos Syndrome
No permanent dentition, Flexion contracture, Conductive hearing impairment, Atrial septal defect,... ORPHA:821
Nablus Mask-Like Facial Syndrome
Small earlobe, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Posteriorly rotated ea... OMIM:608156
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Facial hypotonia, Underdeveloped nasal alae, Broad nasal ... ORPHA:438216
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Laryngeal stenosis, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothora... ORPHA:79404
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Conductive hearing impairment, Hypothyroidism, ... ORPHA:1606
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Abnorm... ORPHA:744
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Laryngotracheal ste... ORPHA:1190
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Spl... OMIM:181000
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Abnorma... OMIM:219000
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... ORPHA:2399
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Hypertensio... OMIM:615830
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Depressed nasal b... OMIM:259775
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Congestiv... ORPHA:31826
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Limb Body Wall Complex
Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs, Ventricular septal defect, ... ORPHA:2369
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... ORPHA:652
Pmm2-Cdg
Mandibular prognathia, Respiratory distress, Multiple joint contractures, Prominent nose, Elevate... ORPHA:79318
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Plague
Abnormal bleeding, Respiratory distress, Tachycardia, Hematemesis, Lymphadenitis, Splenomegaly, A... ORPHA:707
Gaucher Disease, Type Ii
Death in infancy, Double aortic arch, Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Co... OMIM:230900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fib... ORPHA:2141
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Disproportionate shorten... OMIM:263520
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Posteriorly rotated... OMIM:300000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Multiple pulmonary cysts, Depressed nasal bridge, Ventricula... OMIM:619418
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Neonatal respiratory distress, Micrognathia, Type 1 muscle ... OMIM:619036
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Wide anterior fo... OMIM:620099
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Hearing impairment, Micrognathia, Kyphosis, Cryptorc... ORPHA:1724
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Wide nose, Ventricular septal defect, Anteverted nares, Increased mean plat... OMIM:222470
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Oromandibular Dystonia
Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormality of the... ORPHA:93958
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Hypoplastic scapulae, Congenital diaph... ORPHA:958
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Congenital ... OMIM:614294
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia OMIM:601709
Isolated Arrhinia
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... ORPHA:1134
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... ORPHA:91359
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ... OMIM:203500
Lissencephaly 9 With Complex Brainstem Malformation
Depressed nasal bridge, Ventricular septal defect, Low-set ears OMIM:618325
Monosomy 22
Low-set, posteriorly rotated ears, Wide nose, Aplasia of the thymus, Schwannoma, Hypochromic micr... ORPHA:96123
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Hypoplastic cervical vertebrae, ... ORPHA:56304
Pallister-Killian Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... OMIM:601803
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Cryptorchidi... OMIM:613805
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory distress, Neutrop... ORPHA:79139
Renal Agenesis
Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Ureteral ... ORPHA:411709
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Microg... ORPHA:2461
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Microgn... OMIM:300990
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Depressed nasal bridge, Ventricular septal defect, Pulmonary hypoplasia, Ace... OMIM:615503
Central Retinal Vein Occlusion
Papilledema, Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Acute infantile spinal m... OMIM:271225
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Vertigo, Calf muscle hypertrophy, Scoliosis ORPHA:37612
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Posteriorly rotate... OMIM:211380
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Micrognathia, Anteverted ears, Cryptorchidism, B... OMIM:613884
Platyspondylic Dysplasia, Torrance Type
Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carpal morphology, Short foot,... ORPHA:85166
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... ORPHA:2396
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia, Dry skin, Hypothyroidism, Goiter OMIM:274400
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Abnormal pinna morphology, Micrognathia, Complete at... OMIM:236680
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Pulmonary hypopl... OMIM:601163
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Splenomegaly, Bulbous nose, Patent ductus arteriosus, Hip dislocation,... OMIM:618268
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hemophilia A
Osteoarthritis, Muscle hemorrhage, Bruising susceptibility, Joint hemorrhage, Persistent bleeding... OMIM:306700
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Decreased muscle mass, Congenital ... ORPHA:2834
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Micrognathia, Micromelia, Trismus, Macrotia, Flexion contr... ORPHA:2671
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Autoimmune hemolytic anemia, Hyperthyroid... ORPHA:37042
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Prominent nasal bridge, L... ORPHA:221120
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Antever... OMIM:615273
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter, Thrombocytopenia, Abnormality of the musculat... ORPHA:3327
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineural hearin... ORPHA:79241
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Aqueductal stenosis,... ORPHA:93260
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Abnormal facial skeleton morphology, Nasal congestion, Ovari... ORPHA:562
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Ventricular se... OMIM:606170
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Short ... ORPHA:2438
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Depressed nasal bridge, Elevated hemoglobin ... OMIM:619127
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Respiratory distress, Neonatal respira... OMIM:260400
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Micromelia, Trismus, Asthma, Flexion contra... ORPHA:3206
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anteverted nares, Optic atrophy, Wide nasal bridge, Skin ulcer, Protruding ear, Pleura... ORPHA:2526
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Microg... OMIM:216340
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Truncus arteriosus, Abnormality of the spleen, Abnormal lung lobati... ORPHA:2538
Saethre-Chotzen Syndrome
Absent first metatarsal, Delayed cranial suture closure, Hypoplasia of the maxilla, Long nose, Pr... OMIM:101400
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Bruising susceptibility ORPHA:75497
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Beck-Fahrner Syndrome
Facial hypotonia, Protruding ear, Ventricular septal defect, Cardiomegaly OMIM:618798
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypot... ORPHA:268261
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Micrognathia, Protruding ear, Chronic otitis media, L... ORPHA:534
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Pulmon... OMIM:607721
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Wormian bones, Depressed nasal bridge, Anteverted nares, Metopic... OMIM:269150
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Depressed nasal bridge, Posteriorly rotated ears, Redundant s... OMIM:250220
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Sensorineural hearing impairment, Thrombocytopenia, Goiter OMIM:274240
Split Lower Lip
Narrow maxilla OMIM:183400
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,... OMIM:614076
Renal Hypodysplasia/Aplasia 1
Hypertension, Retrognathia, Pulmonary hypoplasia, Low-set ears OMIM:191830
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Small abnormally formed scapulae, Hydrocephalus, Platyspondyly, Pu... OMIM:187600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Prominent metopic ridge, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated e... OMIM:608670
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing im... OMIM:194190
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis, Goiter OMIM:617175
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Atrial septal defect, Small earlobe, Anteverted nares, Cryptorchidism, Patent ductus a... OMIM:619522
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter OMIM:188580
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Respiratory distress, Micromelia, Abnormal circulating calc... ORPHA:50810
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Abnormality of the wrist, Cryptorchidism, Apl... ORPHA:3138
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Flexion contracture, Wide nasal bridge, Depressed na... OMIM:619306
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Sensorineural hearing impairment, Dy... OMIM:615636
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Pall... ORPHA:653
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Scoliosis OMIM:105830
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposit... OMIM:313850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibr... ORPHA:79259
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... OMIM:300952
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Brittle Cornea Syndrome
Sensorineural hearing impairment, Mitral valve prolapse, Scoliosis, Pulmonic stenosis, Conductive... ORPHA:90354
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Po... OMIM:616835
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Wide nose, Depressed nasal bridge,... OMIM:614188
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Redundant skin, Congenital diaphragmatic hernia, Vascular tortu... OMIM:219100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Lethal Congenital Contracture Syndrome 9
Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Wrist flexion co... OMIM:616503
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Abnormality of the vertebral spinous processes, Mixed he... ORPHA:1299
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Protruding ear, Otitis media, Anteverted nares, Wide nasal bridge, Bilater... OMIM:619475
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, C... ORPHA:3412
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint dislocation, Prominent superficial veins, Poor wound healing, Gingival bleeding, Scoliosis,... OMIM:130080
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Aganglionic megacolon, Perianal erythema, Cryptorchidism, Recurrent upper respi... OMIM:308205
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising suscept... OMIM:614074
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Kyphosis, Optic atrophy, Bronchiectasis, Interstitial emphysema, Knee flexion contr... OMIM:619708
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Skeletal muscle atrophy, Chronic axonal neurop... ORPHA:95428
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev... ORPHA:250999
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Micrognathia, Aqueductal stenosis, Splenomegaly, Pulmonary hypopla... ORPHA:3035
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasi... OMIM:305100
Orofaciodigital Syndrome Type 2
Natal tooth, Apnea, Micrognathia, Conductive hearing impairment, Adactyly, Talon cusp, Central re... ORPHA:2751
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyro... OMIM:180295
Bent Bone Dysplasia Syndrome 2
Depressed nasal bridge, Short tibia, Hypoplastic acetabulae, Coronal cleft vertebrae, Platyspondy... OMIM:620076
Teebi-Shaltout Syndrome
Small earlobe, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, Wide nasal ... OMIM:272950
Ascher Syndrome
Wide nose, Hypothyroidism, Goiter ORPHA:1253
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Conductive hearing impairment, Atrial ... ORPHA:199
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Condu... ORPHA:2753
Alström Syndrome
Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Decreased response to grow... ORPHA:64
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... ORPHA:920
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia,... ORPHA:3404
Adiposis Dolorosa
Telangiectasia of the skin, Obesity, Dry skin, Bruising susceptibility, Hypothyroidism ORPHA:36397
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis, Atrial septal d... ORPHA:522077
Caudal Regression Syndrome
Decreased muscle mass, Maternal diabetes, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the... ORPHA:3027
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal diabetes, Cryptorchidism... ORPHA:49
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Bruising susceptibility OMIM:619172
3Q29 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Wide nasal bridge, Low-set ears, Camptodactyly of to... ORPHA:251038
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Recurrent pneumonia, A... OMIM:225400
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... OMIM:200600
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival blee... OMIM:614077
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency OMIM:619120
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Abnormal nasopharynx morphology, Absence of Stensen duct, Choan... OMIM:129900
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Breast aplasia, Cough, Dry skin ORPHA:238468
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Ventricular septal defect, Choanal atresia, Cryptorchidism, ... OMIM:107480
Adnp Syndrome
Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i... ORPHA:404448
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Pheochromocytoma, Elevated ci... ORPHA:1332
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Abnor... ORPHA:139417
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Bardet-Biedl Syndrome 20
Papilledema, Bilateral cryptorchidism, Asthma, Atrial septal defect, Male hypogonadism OMIM:619471
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Pulmo... OMIM:612852
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Ear pain, Respiratory distress ORPHA:2309
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Redundant skin, Capi... OMIM:304150
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Congenital Myopathy 17
Mandibular prognathia, Respiratory tract infection, Dental malocclusion, Narrow jaw, Respiratory ... OMIM:618975
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Micr... ORPHA:731
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia, Cupped ear, Protruding ear ORPHA:93947
Vater/Vacterl Association
Laryngeal stenosis, Abnormal nasopharynx morphology, Occipital encephalocele, Ventricular septal ... OMIM:192350
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... ORPHA:141083
Craniotubular Dysplasia, Ikegawa Type
Anteverted nares, Ventricular septal defect, Optic neuropathy, Optic atrophy, Wide nasal bridge, ... OMIM:619727
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Diets-Jongmans Syndrome
Ventricular septal defect, Hearing impairment, Broad nasal tip, Congenital diaphragmatic hernia, ... OMIM:618846
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Microtia OMIM:617798
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Spondyloocular Syndrome
Posteriorly rotated ears, Unilateral cryptorchidism, Sensorineural hearing impairment, Mitral val... OMIM:605822
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Bruising susceptibility, Bleeding requiring red cell transfusion OMIM:619484
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor ORPHA:100050
Rift Valley Fever
Abnormal bleeding, Miscarriage, Hematemesis, Thrombocytopenia, Vertigo, Jaundice, Retinal hemorrh... ORPHA:319251
Perlman Syndrome
Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Hypoplasia... OMIM:267000
Ulnar-Mammary Syndrome
Subglottic stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3... OMIM:181450
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Absent nipple, Posteriorly rotated ears, Hypoplastic scapulae, Kyphoscoli... OMIM:200980
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Posteriorly rotated ears, Decreased response to growth hormone stim... ORPHA:506358
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Ventricular septal defect, Optic nerve hypoplasia, Posteriorly rotated ear... OMIM:620330
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Pulmonary hypoplasia, Diffuse axonal swelling, Arthr... ORPHA:86822
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... OMIM:122880
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Anteverted nares, Optic nerve hypoplasia, Facial hypotonia, Hydrocephalu... ORPHA:457284
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Renal tubular epithelial necrosis, Vitreous hemorrhage, Normochro... ORPHA:91500
Rodrigues Blindness
Narrow nasal bridge, Ectodermal dysplasia, Nasal flaring, Protruding ear OMIM:268320
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Scoliosis, Knee flexion contracture OMIM:118650
Sarcoidosis
Abnormal nasal mucosa morphology, Heart block, Increased T cell count, Abnormal lung morphology, ... ORPHA:797
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Respiratory dist... OMIM:256810
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Posteriorly rotated ears, Camptodactyly of finger, Elbow ... OMIM:208150
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Elevated c... OMIM:162300
Johanson-Blizzard Syndrome
Diabetes mellitus, Ventricular septal defect, Portal hypertension, Underdeveloped nasal alae, Sit... OMIM:243800
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Blepharochalasis And Double Lip
Goiter OMIM:109900
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, External ear malformation, Hypothyroidism, Patent ductus art... ORPHA:857
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Impaired oxidativ... OMIM:306400
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Hypoplastic sacrum, Absence of Stensen duct, Choanal atresia, De... OMIM:604292
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test... ORPHA:96179
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Recurrent respiratory infections, Hypoplasia of the ulna, Pancreatic fibrosis, ... OMIM:208500
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
You-Hoover-Fong Syndrome
Kyphoscoliosis, Coarctation of aorta, Vascular ring, Double aortic arch, Hearing impairment OMIM:616954
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Pulmonary hypopla... OMIM:263200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones, Bruising s... OMIM:617821
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Wide nasal bridge, Hypertension, Atrial septal defect, Enamel hypoplasia OMIM:300896
Familial Drusen
Macular hemorrhage ORPHA:75376
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Sensorineural he... ORPHA:466943
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... OMIM:259050
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Widely patent fontanelles and sutures OMIM:267430
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, Poor wound healin... OMIM:618175
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Abnormal lung lobation, Vertebral segmen... ORPHA:2052
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Neuropathic arthropathy, Dry skin, Anemia, ... ORPHA:642
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Sensorineural hearing impairment, Protruding ea... OMIM:617107
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Occipital Horn Syndrome
Delayed cranial suture closure, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Venous insu... ORPHA:198
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Micromelia, Pulmonary hypoplasi... OMIM:200995
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Kyphosis, Abnormality of the thyroid g... ORPHA:201
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Tetraamelia Syndrome 1
Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Asplenia, Hydrocephalus, Single n... OMIM:273395
Brittle Cornea Syndrome 2
Umbilical hernia, Bruising susceptibility, Hearing impairment OMIM:614170
Sympathetic Ophthalmia
Papilledema, Erythema, Retinal hemorrhage, Tinnitus, Hearing impairment ORPHA:79098
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Micromelia, Flat acetabular roof, Short ribs, Pulmonary hypoplasia, Mesomel... OMIM:614091
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... OMIM:112250
Retinoblastoma
Vitreous hemorrhage, Leukemia, Pinealoma OMIM:180200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure, Jaundice, Death in infancy OMIM:617156
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Anteverted nares, Narrow nasal tip, Supernumerary nipple, Cryptorchidism, Short thumb, Wide nasal... ORPHA:477993
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Prominent ... OMIM:614748
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple... OMIM:620189
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Supernumerary tooth, Pituitary adeno... ORPHA:733
Diphallia
Ureteral duplication, Hypospadias, Distal urethral duplication, Epispadias, Penoscrotal transposi... ORPHA:227
Yellow Fever
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v... ORPHA:99829
Chand Syndrome
Atelectasis, Hydroureter, Dry skin ORPHA:1401
Early Infantile Epileptic Encephalopathy
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Precocious puberty, Short fi... ORPHA:1934
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Bile... OMIM:612284
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Aganglionic megacolon, Bicuspid aortic valve, Kyphoscoliosis, Abnormal pinn... OMIM:309800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Neuroocular Syndrome
Scapular winging, Genu recurvatum, Unilateral deafness, Cupped ear, Anterior creases of earlobe, ... OMIM:619539
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla OMIM:313500
Sillence Syndrome
Aplasia of the middle phalanx of the hand, Flat acetabular roof, Platyspondyly, Short middle phal... ORPHA:3168
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Dry skin, Multinodular goiter, Scaling skin OMIM:618373
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve... ORPHA:93311
Spondyloepimetaphyseal Dysplasia, X-Linked
Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Hypoplasia of the od... OMIM:300106
Thyroid Ectopia
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo... ORPHA:95712
Pierson Syndrome
Hypertension, Retinal hemorrhage, Skeletal muscle atrophy, Death in childhood OMIM:609049
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, A... ORPHA:79078
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, ... OMIM:271520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Elbow dislocation, Patent ductus arteriosus, Hemivertebrae, Aplasia/Hypoplasia of the phalanges o... ORPHA:1112
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goiter, Ovaria... ORPHA:276399
Renal Agenesis, Bilateral
Depressed nasal ridge, Pulmonary hypoplasia, Low-set ears, Sirenomelia ORPHA:1848
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Cryptorchidism, Respiratory insuffic... ORPHA:93271
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge, Decreased response to growth hormone stimulation test OMIM:180500
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Mckusick-Kaufman Syndrome
Cryptorchidism, Congenital hip dislocation, Aganglionic megacolon, Pulmonary hypoplasia OMIM:236700
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Cryptorchidism ORPHA:404451
Synpolydactyly 2
Carpal synostosis, Metatarsal synostosis, Tarsal synostosis, Metacarpal 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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