Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dishevelled segment polarity protein 3
Synonyms:
b2b2866Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Dvl3 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 Dvl3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dvl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Double... OMIM:618254
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Hypertelorism, Deeply set eye, Adrenal insufficiency, Pulmo... ORPHA:251076
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarcta... ORPHA:1209
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio... OMIM:231060
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Hypertelorism, Patent ductus art... ORPHA:261120
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Diabetes Insipidus, Neurohypophyseal
Wide nose, Hypertelorism, Decreased circulating osteocalcin level, Short nose, Central diabetes i... OMIM:125700
Ring Chromosome 8 Syndrome
Short nose, Abnormality of the ureter, Anteverted nares, Hydronephrosis ORPHA:1450
Burn-Mckeown Syndrome
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal cardiac septum morphology, Sho... ORPHA:1200
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Progressive Hemifacial Atrophy
Deeply set eye, Abnormal mandible morphology, Micrognathia ORPHA:1214
Forsythe-Wakeling Syndrome
Deeply set eye, Nephrotic syndrome, Prominent nasal bridge, Thrombocytopenia OMIM:613606
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Small hand, Short foot, Deeply set eye, Hypogonadism, Decreased tes... ORPHA:261483
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Hypospadias, Hypotelorism, Deeply set eye, Tetralogy of Fallot ORPHA:276422
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypertelorism, Deeply set eye, Hypogonadism, Malar flattening OMIM:615984
Perching Syndrome
Respiratory distress, Cyanosis, Camptodactyly OMIM:617055
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply set eye, Retrognathia OMIM:615979
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:220210
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Phenobarbital Embryopathy
Mandibular prognathia, Hypospadias, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal ... ORPHA:1919
Scimitar Syndrome
Respiratory distress, Pulmonary artery hypoplasia, Cough, Atrial septal defect, Single ventricle,... ORPHA:185
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Abnormality of cartilage of external ear, Tachypnea, Double ... ORPHA:3426
Chromosome 22Q11.2 Deletion Syndrome, Distal
Deeply set eye, Truncus arteriosus, Malar flattening, Underdeveloped nasal alae OMIM:611867
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Proptosis, Mandibular aplasia, Short nose,... ORPHA:1832
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly ORPHA:2901
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorchidism, Abnormality of the urinary s... ORPHA:1695
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:280679
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Hypertelorism, Urethral stenosis, Depressed n... ORPHA:1727
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Deeply set eye, Left ventri... OMIM:617228
Acrocephalopolydactyly
Hypertelorism, Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Limb undergr... ORPHA:221054
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Delayed puberty, Malar flattening, Short nose ORPHA:217340
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Hypertelorism,... OMIM:179613
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory ... ORPHA:1461
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Micrognathia, Abnormal erythrocyte morphology, Hypertelorism, Megaloblastic anemia, ... ORPHA:2575
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Malar prominence, Micrognathia, Broad nasal tip, Cryptorchidism, S... ORPHA:3459
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, Cryptorchidism, Hyperinsulin... ORPHA:2849
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Cutis marmorata, Foot oligodactyly, Truncus arteriosus, Br... OMIM:616589
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Image Syndrome
Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism... ORPHA:85173
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Hypertelorism, Micrognath... ORPHA:93328
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge, Deeply set eye, Retractile testis, Malar fl... OMIM:615071
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul... ORPHA:860
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, ... OMIM:617478
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal defect, Truncus ... ORPHA:401935
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Tapered finger OMIM:302000
2q37 monosomy
Deeply set eye DECIPHER:44
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Cyanosis, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, C... ORPHA:3304
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory failure... OMIM:265120
Galloway-Mowat Syndrome 5
Mandibular prognathia, Proteinuria, Hypertelorism, Stage 5 chronic kidney disease, Deeply set eye... OMIM:617731
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neona... OMIM:619751
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Dyspnea, Nonproductive co... ORPHA:980
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Hypertelorism, Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia OMIM:613670
Renal And Mullerian Duct Hypoplasia
Micrognathia, Hypertelorism, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly dis... OMIM:266810
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux, Broad nasal tip, Wide nasal bridge, Deeply set eye OMIM:620393
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Mandibular prognathia, Deeply set eye, Wide nasal bridge, Prominent nose ORPHA:137831
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Deeply set eye, Short nose ORPHA:2429
Aortic Arch Interruption
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus a... ORPHA:2299
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Deeply set eye, Anteverted nares, Underdeveloped nasal alae OMIM:612138
Rhiny
Short nose, Anteverted nares OMIM:180360
Mosaic Variegated Aneuploidy Syndrome 3
Deeply set eye, Nephroblastoma, Convex nasal ridge, Horseshoe kidney OMIM:617598
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Secundum atrial septal defect, Asth... ORPHA:2257
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Orofaciodigital Syndrome Xv
Hydronephrosis, Anteverted nares, Wide nasal bridge, Hypertelorism OMIM:617127
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... ORPHA:2414
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Hypertelo... ORPHA:93110
6P22 Microdeletion Syndrome
Deeply set eye, Patent ductus arteriosus, Hydronephrosis, Hypotelorism ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
Gand Syndrome
Deeply set eye, Hypertelorism, Wide nasal bridge, Broad nasal tip OMIM:615074
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Hypertelorism, Decreased proportion of CD8-positive T cells, Hypoplasia o... OMIM:617241
Glycogen Storage Disease Iii
Ventricular hypertrophy, Depressed nasal bridge, Broad nasal tip, Deeply set eye, Cardiomyopathy,... OMIM:232400
Tetralogy Of Fallot
Proptosis, Tetralogy of Fallot OMIM:187500
Megalencephaly
Atrial septal defect, Long penis, Wide nasal bridge, Deeply set eye, Macroorchidism ORPHA:2477
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypertelorism,... OMIM:300882
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough ORPHA:330012
Tetraploidy
Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of... ORPHA:3305
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Neonatal respiratory... ORPHA:244
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Hypospadias, Prominent nose, Hypertelorism, Cryptorchid... OMIM:618316
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Deeply set eye, Short nose OMIM:617991
Pierpont Syndrome
Wide nose, Hypertelorism, Broad nasal tip, Cryptorchidism, Short toe, Micropenis, Short foot, Dee... OMIM:602342
Rhyns Syndrome
Deeply set eye, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Deeply set eye, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Hypertelorism, Micrognathia, Bulbous nose, Wide nasal bridge, Hypotelorism, Dee... OMIM:613604
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye OMIM:619058
Intellectual Developmental Disorder, Autosomal Recessive 39
Deeply set eye, Dental malocclusion, Prominent nose OMIM:615541
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Deeply set eye, Dental malocclusion, Short mandibular rami OMIM:141300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Micrognathia, Patent du... ORPHA:2547
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... OMIM:617516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Hypertelorism, Micrognathia, Cryptorchidis... ORPHA:171839
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect, Short distal phalanx o... ORPHA:2516
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level, Small hand, Short foot, D... OMIM:300869
Intellectual Developmental Disorder, X-Linked 91
Short foot, Short nose, Small hand, Short 5th finger OMIM:300577
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P... OMIM:618829
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Short nose, Aminoaciduria ORPHA:833
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, B... OMIM:609757
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Hypotelorism, Aplasia/Hy... OMIM:602418
Diamond-Blackfan Anemia 8
Macrocytic anemia, Hypertelorism, Wide nasal bridge, Increased mean corpuscular volume, Neutropen... OMIM:612563
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Hypospadias, Micrognathia OMIM:300934
Bardet-Biedl Syndrome 19
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... OMIM:615996
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Hypoplasia of the m... ORPHA:1529
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... ORPHA:95430
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... OMIM:614399
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply set eye ORPHA:261304
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye OMIM:300471
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Depressed nasal bridge, Micrognathia ORPHA:1918
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty... ORPHA:261243
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Hypertelorism, Abnormality of the endocrine system, Cr... ORPHA:464288
Horner Syndrome, Congenital
Deeply set eye OMIM:143000
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Prominent nasal bridge, Hypospadias, Cryptorchidism, Increased ci... ORPHA:163971
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal ti... OMIM:137550
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory... ORPHA:70587
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Deeply set eye, Enamel hypoplasia, Retrognathia OMIM:617915
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Chromosome 20Q11-Q12 Deletion Syndrome
Deeply set eye, Hypertelorism OMIM:614257
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Fetal Trimethadione Syndrome
Depressed nasal bridge, Hypospadias, Ventricular septal defect, Micrognathia, Transposition of th... ORPHA:1913
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polyd... OMIM:617895
Periventricular Nodular Heterotopia 7
Microretrognathia, Anteverted nares, Ventricular septal defect, Hypertelorism, Micrognathia, Cryp... OMIM:617201
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal renal morphology, Wide nasal ... ORPHA:2209
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
20Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism ORPHA:444051
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea OMIM:610992
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Hypertelorism, Depressed nasal ridge, Small hand, Hypote... OMIM:618672
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Deeply set eye, Hypertrophic cardiomyopathy, Short nose OMIM:617183
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pulm... ORPHA:251071
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Hypotelorism, Short col... OMIM:142945
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Hypertelorism, Patent ductus arteriosus, Proptosis, Sho... OMIM:618961
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
12Q14 Microdeletion Syndrome
Wide nose, Diabetes mellitus, Prominent nasal bridge, Hypertelorism, Micrognathia, Abnormality of... ORPHA:94063
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Cryptorchidism, Short toe, Shortening of all d... OMIM:301900
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Deeply set eye, Short palm, De... ORPHA:85279
Joubert Syndrome 37
Wide nose, Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Hydronephrosis, De... OMIM:619185
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Verheij Syndrome
Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Hip dislocation, Short 5th... OMIM:615583
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Hypertelorism, Micrognathia, Cryptorchidism, Wide nasal bridge, Proptosis, Shor... OMIM:618577
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia, Bulbous nose, Deeply set... ORPHA:480907
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Warburg Micro Syndrome 1
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Deeply set eye OMIM:600118
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Congenital Myopathy 19
Micrognathia, Cryptorchidism, Renal atrophy, Depressed nasal ridge, Hydronephrosis OMIM:618578
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu... ORPHA:284169
Cerebrooculofacioskeletal Syndrome 2
Micrognathia, Prominent nose, Deeply set eye, Micropenis, Convex nasal ridge OMIM:610756
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Deeply set eye, Hypertrophic cardiomyopathy,... ORPHA:496790
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Respiratory insuffi... OMIM:601186
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Anteverted nares, Shortening of all distal phalanges of the fingers, Deep... OMIM:616809
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Femoral bowing, Hypertrophic cardiomyopathy, Stillbirth, Aortic valve ste... OMIM:615415
Renal Tubular Dysgenesis
Hypertelorism, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Reno... ORPHA:3033
Pierpont Syndrome
Wide nasal ridge, Hypertelorism, Cryptorchidism, Short toe, Deeply set eye, Short finger, Malar f... ORPHA:487825
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Hypertelorism, Abnormality of the urethra, Abnormality of the upper uri... ORPHA:2145
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen... OMIM:185070
Freeman-Sheldon Syndrome
Hypertelorism, Underdeveloped nasal alae, Cryptorchidism, Depressed nasal ridge, Wide nasal bridg... ORPHA:2053
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Hypertelorism, Deeply set eye, Short nose OMIM:613443
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini... ORPHA:3044
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Hypertelorism ORPHA:195
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Hypospadias, Hypertelorism, Broad nasal tip, P... OMIM:619736
Emanuel Syndrome
Atrial septal defect, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, ... ORPHA:96170
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Bulbous nose, Renal hypopla... OMIM:618494
Tetrasomy 15Q26
Microretrognathia, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe ki... OMIM:614846
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... OMIM:610921
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Deeply set eye, Prominent nasal bridge, Broad columella ORPHA:457365
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Short nose, Hypertelorism ORPHA:217385
Odontochondrodysplasia
Respiratory distress, Bowing of the long bones, Coxa valga, Patent ductus arteriosus, Cone-shaped... ORPHA:166272
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Micrognathia, Hypertelorism, Prominent nose, Wide nasal bridge, Fibular hypopla... OMIM:201170
Bardet-Biedl Syndrome 16
Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment OMIM:615993
Chromosome 2Q37 Deletion Syndrome
Wide nose, Short fourth metatarsal, Depressed nasal bridge, Anteverted nares, Short metacarpal, B... OMIM:600430
Pentasomy X
Micrognathia, Hypertelorism, Patent ductus arteriosus, Small hand, Wide nasal bridge, Short foot,... ORPHA:11
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Hypertelorism, Broad nasal tip, Micrognathia, Bilateral cryptorchidism, H... OMIM:613544
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Emanuel Syndrome
Atrial septal defect, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, ... OMIM:609029
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Restrictive v... ORPHA:98913
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Hypertelorism, Wide nas... ORPHA:137834
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Congenital Diaphragmatic Hernia
Hypoxemia, Prominent sternum, Respiratory distress ORPHA:2140
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide nasal bridge, Deeply s... OMIM:619149
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty, Anemia, Micrognathia ORPHA:2598
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... ORPHA:555874
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge, Hypertelorism ORPHA:438178
Toluene Embryopathy
Micrognathia, Cryptorchidism, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ... ORPHA:1920
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Depressed nasal bridge, Ventricular septal defect, M... ORPHA:2256
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:234810
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hypertelorism, Patent ductus arteriosus, Increased size of the ma... OMIM:300048
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta OMIM:140850
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc... ORPHA:229
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Respiratory distress OMIM:619466
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deeply set eye, Anteverted nares OMIM:618859
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Cryptorc... ORPHA:1926
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic si... ORPHA:137914
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis OMIM:619797
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Proptosis ORPHA:2370
Succinic Acidemia
Respiratory distress OMIM:600335
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Crypto... ORPHA:3306
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pul... ORPHA:2038
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles, Cyanosis OMIM:619793
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Hypertelorism, Cryptorchidism, Short nose OMIM:616910
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... OMIM:306955
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ... ORPHA:439
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Smith-Magenis Syndrome
Mandibular prognathia, Abnormality of the thyroid gland, Abnormal renal morphology, Wide nasal br... OMIM:182290
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Persistence of primary teeth, Micrognathia, Wide nasal bridge, Deeply set eye, ... OMIM:618342
3C Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Micrognathia, Hyper... ORPHA:7
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Arachnodactyly, Missing ribs, Dyspnea, Abnormal r... ORPHA:2759
Amyotrophy, Hereditary Neuralgic
Hypotelorism, Deeply set eye, Depressed nasal bridge, Long nasal bridge OMIM:162100
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Malar flattening ORPHA:85280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect... OMIM:614069
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Cryptorchid... ORPHA:2083
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Deeply set eye, Vesicoureteral refl... OMIM:618828
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Hypospadias, Ventricular septal defect, Micrognathia, Hyperteloris... OMIM:616897
5Q14.3 Microdeletion Syndrome
Deeply set eye, Short nose, Anteverted nares ORPHA:228384
Al-Raqad Syndrome
Atrial septal defect, Deeply set eye, Short nose OMIM:616459
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Abnormality of the kidney, Hypertelorism, Broad nasal t... ORPHA:391372
Satb2-Associated Syndrome Due To A Pathogenic Variant
Short foot, Deeply set eye, Abnormality of globe location, Micrognathia ORPHA:576283
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Macroorchidism, Hypertelorism OMIM:300143
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Thoracic aorti... OMIM:619657
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Intellectual Developmental Disorder, X-Linked 30
Deeply set eye, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Narrow naris, Malar flattening,... OMIM:122880
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Hypertelorism, Micr... ORPHA:1225
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pul... ORPHA:199241
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Depressed nasal bridge, Anteverted nares, Deeply set eye OMIM:617268
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Lethal Recessive Chondrodysplasia
Respiratory distress, Short long bone, Narrow chest, Flared elbow metaphyses ORPHA:1423
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Renal cyst, Hypotelorism, Deeply set eye, Microphallus, Vesicoureteral reflux, Pate... OMIM:618454
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Deeply set eye, Micropenis OMIM:618504
Trisomy 17P
Wide nose, Hypoplasia of penis, Urethral valve, Hypertelorism, Micrognathia, Prominent nose, Pate... ORPHA:261290
Fanconi Anemia, Complementation Group O
Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Stage 5 chronic kidney disea... OMIM:613390
Smith-Magenis Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet... ORPHA:819
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventri... OMIM:620070
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Apnea, Cleft... OMIM:614669
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypertelorism, Anosmia, Hypoplasia of the zyg... ORPHA:1295
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye OMIM:300699
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteri... ORPHA:2519
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Micrognathia, Hyperte... OMIM:613177
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Seckel Syndrome 8
Ectopic kidney, Convex nasal ridge, Micrognathia OMIM:615807
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Hypertelorism, Horseshoe kidney, Short foot, Deeply set eye, Malar flatte... OMIM:300860
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Diabetes mellitus, Micrognathia, Prominent nose, Secundum atrial septal defect, Deeply set eye, H... OMIM:620194
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Optic atrophy ORPHA:26792
O'Donnell-Luria-Rodan Syndrome
Deeply set eye, Cryptorchidism OMIM:618512
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... OMIM:619356
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Abnormal optic disc morphology, Thoracic kyphosis, Sho... ORPHA:508498
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye OMIM:301024
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Deafness-Craniofacial Syndrome
Deeply set eye, Patent ductus arteriosus, Wide nasal bridge, Underdeveloped nasal alae ORPHA:3241
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Deeply set eye, Anemia ORPHA:3204
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia ORPHA:464453
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Respiratory insufficiency due to muscl... ORPHA:1143
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply set eye, Incre... ORPHA:1227
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... OMIM:614613
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Prominent nasal bridge, Micrognathia, Cryptorchidism, Horseshoe kidney, Deeply set eye ORPHA:502434
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Thoracic hypoplasia, Dumbbell-shaped long bone, Hypoplastic ... OMIM:151210
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Basilicata-Akhtar Syndrome
Anteverted nares, Wide nasal ridge, Precocious puberty, Short foot, Deeply set eye, Choanal steno... OMIM:301032
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Hypertelorism, Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplasia... OMIM:214110
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Short foot, Proptosis, Limb undergr... OMIM:614078
Trisomy 12P
Supernumerary nipple, Micrognathia, Hypertelorism, Wide nasal bridge, Proptosis, Abnormality of t... ORPHA:1699
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Cryptorchidism,... OMIM:612541
Microphthalmia, Syndromic 12
Ventricular septal defect, Micrognathia, Broad nasal tip, Cryptorchidism, Hypoplastic left atrium... OMIM:615524
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... OMIM:241410
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Abnormal pinna morphology, Sandal gap, Ventricular septa... ORPHA:477817
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root an... OMIM:619910
Breath-Holding Spells
Cyanosis OMIM:607578
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Dextrocardia, Micrognathia, Hypertelorism, Precocious puberty, Cryptorchidism, ... ORPHA:96092
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Micropenis, Short ribs, Short nose, Anterior hy... OMIM:241800
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Antev... ORPHA:950
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hypertelorism, Hurthle cell thyroid adenoma, Thyroid ca... ORPHA:210548
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum, Short distal phala... OMIM:302950
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Proptosis, Mitral valve prolapse ORPHA:90653
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Deeply set eye, Short nose, Hypertelorism OMIM:618087
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Trisomy 1Q
Microretrognathia, Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Ventricular s... ORPHA:261344
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Hypertelorism, Micrognathia, Bilateral renal hypoplasia... OMIM:243605
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Deeply set eye, Dec... OMIM:272300
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Multicystic kidney dysplasia, Prominent nasal bridge, Hyper... ORPHA:85201
Desanto-Shinawi Syndrome
Deeply set eye, Bulbous nose, Depressed nasal bridge, Hypertelorism OMIM:616708
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Hypertelorism, Crypto... ORPHA:52
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Renal ... OMIM:614886
Prolidase Deficiency
Depressed nasal bridge, Hypertelorism, Micrognathia, Thrombocytopenia, Splenomegaly, Hyperimidodi... OMIM:170100
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, P... ORPHA:60041
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... ORPHA:444013
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Distal Triplication 15Q
Abnormality of the kidney, Micrognathia, Hypertelorism, Patent ductus arteriosus, Hypoplastic aor... ORPHA:314588
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Vesicoureteral ref... ORPHA:261494
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Bulbous nose, Micrognathia, Hypotelorism OMIM:614104
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Short nose, Delayed eruption of permanent teeth, Anteverted nares OMIM:618506
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Proptosis, Short nose, ... ORPHA:1914
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Car... ORPHA:1716
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, T lymphocytopen... OMIM:242860
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Hypertelorism, ... OMIM:145420
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Short palm, Short nose ORPHA:969
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Short nose, Tetralogy of Fallot OMIM:300887
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Rhyns Syndrome
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... OMIM:602152
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Missing ribs, Bilateral... OMIM:619859
Trigonocephaly 1
Short nose, Long penis, Wide nasal bridge, Hypotelorism OMIM:190440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Micrognathia, Hypertelorism, Thyroid lymphangiectasia, Cryptorchidism,... OMIM:235255
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Prominent nasal bridge, Unilateral renal agenesis, Broad nasal tip, Long nose,... OMIM:616541
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Hypotelorism, Deeply set eye, Absen... ORPHA:261211
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia OMIM:607598
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Hypoplasia of the thymus... OMIM:617022
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger, Hearing impairment, Abnormal finger morphology, Cu... ORPHA:896
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Hypertelorism, Cryptorchidism, Wide nasal bridge, A... OMIM:618950
Congenital Disorder Of Glycosylation, Type 2V
Underdeveloped nasal alae, Hypertelorism, Bulbous nose, Wide nasal bridge, Hydrocele testis, Deep... OMIM:619493
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye OMIM:618158
Odontochondrodysplasia 1
Respiratory distress, Short metacarpal, Brachydactyly, Metaphyseal widening, Flat acetabular roof... OMIM:184260
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Prominent nose, Long nose, Cryptorchidism, Hypotelorism, Deeply set eye, M... OMIM:300486
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Hypertelorism, ... ORPHA:84064
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Hypertelorism, Carious teeth, Cryptorchidism, Hypertrophic cardiomyopathy, Pulm... ORPHA:2701
Developmental And Epileptic Encephalopathy 64
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia, Deeply set eye, Low inse... OMIM:618004
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Hypertelorism, Dental malocclusion, Wide nasal bridge, Abnormal cardiac se... ORPHA:3079
Peho-Like Syndrome
Short nose, Retrognathia OMIM:617507
Paganini-Miozzo Syndrome
Mandibular prognathia, Deeply set eye, Malar flattening, Urinary incontinence OMIM:301025
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double ou... OMIM:618164
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morpholog... ORPHA:2323
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Ventricular septal defect, Micrognat... ORPHA:96097
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose OMIM:300581
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia, Deeply set eye, Hypotelorism OMIM:616937
Distal 17P13.1 Microdeletion Syndrome
Deeply set eye, Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge ORPHA:319171
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Pulmonary artery atresia, Ventricular septal defect, H... OMIM:301056
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the ... ORPHA:371428
Potocki-Shaffer Syndrome
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... OMIM:600001
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Short palm, Atrial septal defect, Vesicoureteral reflux, Pleural... OMIM:235510
Trisomy 13
Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Patent ductus art... ORPHA:3378
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... OMIM:608572
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... OMIM:618161
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Micrognathia, Hypertelorism, Retrognathia, Short nose, Thick nasal alae ORPHA:163961
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Prominent nose, Carious teeth, C... OMIM:214150
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormality of... ORPHA:2184
Chopra-Amiel-Gordon Syndrome
Deeply set eye, Thick nasal alae, Flared nostrils, Unilateral renal agenesis OMIM:619504
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1812
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Hyperteloris... OMIM:612561
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Ventricular septal defect, Long nose, Carious teeth, Cryptorchidism, Coarctation of ... OMIM:617602
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morpholog... ORPHA:439822
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Microg... OMIM:614114
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... ORPHA:261330
Gillespie Syndrome
Truncus arteriosus OMIM:206700
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal alae, Broad nasal ti... ORPHA:250999
Luo-Schoch-Yamamoto Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Hypertelorism, Small hand, Short foot, Deepl... OMIM:619460
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer... OMIM:605376
Cdkl5-Deficiency Disorder
Deeply set eye ORPHA:505652
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia, Hypotelorism OMIM:615042
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hypertelorism, Micrognathia, Pr... OMIM:619312
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hypertelorism, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac... OMIM:608776
Difference Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Short nose, Hypoplasia of penis, Hypogonadism ORPHA:2983
Ssr4-Cdg
Deeply set eye, Patent ductus arteriosus, Horseshoe kidney ORPHA:370927
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Depressed nasal bridge, Hypertelorism, Patent ductus arteriosus, Wide nasal bridge... OMIM:104350
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, C... ORPHA:280200
Zaki Syndrome
Wide nose, Anteverted nares, Renal agenesis, Micrognathia, Patent ductus arteriosus, Wide nasal b... OMIM:619648
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Long nose, Underdeveloped nasal alae, Hypoplasia of the ... OMIM:257850
Miller-Dieker Syndrome
Nephropathy, Short nose, Anteverted nares ORPHA:531
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hypertelorism, Proptosis, Abn... ORPHA:2484
2Q37 Microdeletion Syndrome
Short metacarpal, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Supernu... ORPHA:1001
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Deeply s... OMIM:617635
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Increased pulmonary vasc... ORPHA:99104
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus,... ORPHA:2847
Cat Eye Syndrome
Atrial septal defect, Renal agenesis, Ventricular septal defect, Micrognathia, Absent radius, Hyp... OMIM:115470
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Sensorineural hearing impairment, Left ventricular hypertrophy OMIM:616974
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Ventricular septal defect, Micrognathia, Small hand, Wide nasal bridge, Short ... OMIM:270450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... OMIM:618223
Mosaic Trisomy 8
Wide nose, Anteverted nares, Hypertelorism, Broad nasal tip, Micrognathia, Cryptorchidism, Patell... ORPHA:96061
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Missing ribs, Abnormality of the spleen, Hypertelorism, Renal hypoplasia/aplasia, A... ORPHA:1834
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Short nose, Low hanging columella OMIM:617752
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, Deeply set eye, T lymphocytopenia, B lymphocytopenia, Micropenis, Abnormal nat... OMIM:615966
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... ORPHA:2409
Christianson Syndrome
Mandibular prognathia, Deeply set eye, Abnormality of the nose ORPHA:85278
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Ureteral duplication, Ureteral stenosis, Right atrial isomerism, Ventricul... OMIM:270100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Patent ductus arteriosus, Microp... OMIM:613870
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Hydron... ORPHA:1745
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Short hallux, Hypertelorism, Small hand, Horseshoe kidne... ORPHA:93260
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Patent foramen ovale, Patent ductus arteri... ORPHA:293939
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Respiratory distress, Patent ductus arteriosus, Small hand, Optic atrophy, Upper limb... OMIM:608799
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Renal hypoplasia/aplasia, Micrognathia ORPHA:2570
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postax... ORPHA:2886
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Hypertelorism, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fing... OMIM:615716
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Cryptorchidism, H... ORPHA:93329
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Recurrent urinary tract infections, Short 3rd toe, Deeply set eye, Proptosis, Short 4th toe OMIM:618707
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Depressed nasal bridge, Hypospadias, Hypertelorism, Micrognathia, Broad nasal tip, Deeply set eye ORPHA:363686
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... ORPHA:79127
Meckel Syndrome, Type 8
Pericardial effusion, Depressed nasal ridge, Polycystic kidney dysplasia, Short nose, Enlarged ki... OMIM:613885
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Prominent nasal bridge, Bulbous nose, Fetal pyelectasis, Deeply set eye OMIM:616900
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Anteverted nares, Broad nasal tip, Deeply set eye, Concave nasal ridge, Wide nasal base, Hypothyr... OMIM:617763
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Hypertelorism, Wide nasal bridge, Cardiomyopathy, Proptosis, Short nose OMIM:618437
Even-Plus Syndrome
Atrial septal defect, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,... OMIM:616854
Short Syndrome
Diabetes mellitus, Abnormal dental enamel morphology, Hypertelorism, Abnormal zygomatic bone morp... ORPHA:3163
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Atrial septal defect, Depressed nasal bridge, Anteverted n... OMIM:614080
Tarp Syndrome
Anteverted nares, Micrognathia, Hypertelorism, Hypoplasia of the radius, Subdural hemorrhage, Wid... OMIM:311900
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Kniest Dysplasia
Respiratory distress, Hip contracture, Dumbbell-shaped long bone, Tracheomalacia, Pectus excavatu... OMIM:156550
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Hypotelorism, Deeply set eye, Aminoaciduria, Neutropenia, Thr... OMIM:603585
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Und... ORPHA:2315
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Bilateral cryptorc... ORPHA:2326
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Low-set ears, Atrial septal defect, Patent foramen oval... ORPHA:89844
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Short toe, Bulbous nose, Patellar hypoplasia, Deeply set eye, Hypogonadism, Acro... ORPHA:3041
Treacher-Collins Syndrome
Hypoplasia of penis, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia... ORPHA:861
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Anteverted nares... OMIM:619720
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia ORPHA:1495
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Hypertelorism, ... OMIM:617796
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Carpenter Syndrome 1
Hydroureter, Depressed nasal bridge, Ventricular septal defect, Persistence of primary te