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Gene: Dvl3 MGI:108100

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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:
dishevelled segment polarity protein 3
Synonyms:
b2b2866Clo

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Hypoplastic right heart, Hypertelorism, Micrognathia, C... OMIM:616894
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Anteverted nar... ORPHA:3107

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 teeth, Hyp... OMIM:201000
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Low-set ears, Situs inversus totalis OMIM:612776
Donnai-Barrow Syndrome
Proteinuria, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Proptosis, Short nose ORPHA:2143
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Cryptorchidism, Wide nasal b... OMIM:249620
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Fryns Syndrome
Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Micrognathia, Hypertelorism, Cryptor... ORPHA:2059
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... OMIM:602471
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Deeply set eye, Wide nose, Anteverted nares, Hypertelorism OMIM:619056
Fraser Syndrome 2
Wide nose, Renal agenesis, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia... OMIM:617666
Hypertelorism, Microtia, Facial Clefting Syndrome
Hypertelorism, Micrognathia, Broad nasal tip, Ectopic kidney, Abnormal heart morphology, Short 5t... OMIM:239800
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Wide nose, Ventricular septal defect, Hypertelorism, Hypoplasia of the maxi... OMIM:614261
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, ... OMIM:154230
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Hypertelorism, ... OMIM:613457
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Hypospadias, Choanal atresia, Hypertelorism, Micrognathia, Short thumb... OMIM:619148
Robinow Syndrome
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Multicystic kidney dysplasia, Depre... ORPHA:97360
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Deeply set eye, Atrial sep... OMIM:265380
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose ORPHA:1389
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Micromelia, Hypertelorism, Microgna... ORPHA:99776
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Finger clinodactyly, Narrow... ORPHA:508488
Baraitser-Winter Syndrome 1
Anteverted nares, Bicuspid aortic valve, Hypertelorism, Cryptorchidism, Patent ductus arteriosus,... OMIM:243310
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Dextrocardia, Supernumerary nipple, Hypertelorism, Cryptorchidism, Coarct... OMIM:618929
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Depressed nasal bridge, Anteverted nare... ORPHA:1458
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Short metacarpal, Hypoplastic sacrum, Rhizomelia, Diabetes mellitus, Broad... OMIM:614813
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Decreased nerve conduction velocity... OMIM:616652
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni... ORPHA:1988
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Abnormal pinna mo... OMIM:134780
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Retrognathia, Hydronephrosis, Micrognathia OMIM:618265
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose OMIM:614524
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Urethral atresia, Transposition of the great arteries... OMIM:314390
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Short nose, Patent foramen ovale, Hydro... OMIM:619179
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Deeply set eye, Fetal intraventricular hemorrhage, Prominent nasal bridge OMIM:618480
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Crossed fused renal ectopia, Abnormal dental enamel morphology, Micromeli... ORPHA:3258
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Deeply set eye, Papillary thyroid carcinoma, Atr... OMIM:118450
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Deeply set eye ORPHA:521390
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:613561
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Deeply set eye, Short femoral neck OMIM:608154
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Bulbous nose, Short foot, Hydronephrosis, Mesomelia, Malar flattening, ... ORPHA:2496
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Prominent nasal bridge OMIM:611523
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... OMIM:101600
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux, A... ORPHA:567
Arterial Tortuosity Syndrome
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged... ORPHA:3342
Achondrogenesis Type 1A
Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Short nose ORPHA:93299
Kury-Isidor Syndrome
Deeply set eye, Ventricular septal defect, Anteverted nares, Hydronephrosis OMIM:619762
Noonan Syndrome 4
Ureteral duplication, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Cryptorch... OMIM:610733
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Anteverted nares, Rhizomelia, Hypospadias, Micrognathia, Hypertelorism, Cryp... OMIM:611209
Achondrogenesis
Short nose, Anteverted nares, Micromelia, Micrognathia ORPHA:932
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Choanal stenosis, Atrial septal defect, Vesicoureteral reflux, H... OMIM:607323
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy ORPHA:86812
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi... ORPHA:457193
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Promin... ORPHA:2995
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Cryptorchidism, Broad nasal tip, Splenome... ORPHA:1655
15Q14 Microdeletion Syndrome
Ventricular septal defect, Prominent nasal bridge, Deeply set eye, Atrial septal defect, Convex n... ORPHA:261190
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Narrow nasal ridge, Hypertelorism, Bulbous nose, Hypotelorism, Deepl... OMIM:612940
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Hypertelorism, Micrognathia, Bulbous nose, ... OMIM:606232
Thakker-Donnai Syndrome
Anteverted nares, Ventricular septal defect, Hypertelorism, Bulbous nose, Transposition of the gr... ORPHA:1780
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Slender nose, Convex nasal ridge, Deeply set eye ORPHA:397695
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Deeply set eye, Urinary incontinence, Hypertelorism ORPHA:464282
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Cryptorchidism, Deeply set eye, Macrodontia of permanent maxillary central... ORPHA:364028
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Abnormality of the sense of smell, Deeply set eye, Retr... ORPHA:2189
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Deeply set eye OMIM:614254
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Slender nose, Short nose, Micrognathia OMIM:615419
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Micrognathia... ORPHA:391641
Hereditary Sensory And Autonomic Neuropathy Type 5
Deeply set eye, Malar flattening ORPHA:64752
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Prominent nasal bridge, Abnormal dental enamel morphology, Und... ORPHA:96169
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Micrognathia, Short foot, Short nose ORPHA:93298
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal a... ORPHA:141127
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Alazami Syndrome
Atrial septal defect, Deeply set eye, Wide nose, Malar flattening ORPHA:319671
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Deeply set eye, Micrognathia OMIM:614526
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal ... ORPHA:2510
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Recon Progeroid Syndrome
Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under... OMIM:620370
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Bulbo... OMIM:300968
Congenital Myasthenic Syndrome
Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory... ORPHA:98914
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorch... OMIM:300534
Non-Distal Duplication 13Q
Cryptorchidism, Short nose, Micrognathia, Hypotelorism ORPHA:1702
Immunodeficiency 9
Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Hypertelorism, ... OMIM:614105
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Hypospadias, Hypertelorism, Abse... OMIM:301040
Tetrasomy 5P
Respiratory distress, Cyanosis, Posteriorly rotated ears, Overlapping toe, Short hallux, Pectus e... ORPHA:3309
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Carotid artery tortuosity, Micrognathia, Vertebral artery tortuosity,... OMIM:619329
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Deeply set eye, Varicose veins, Pulm... OMIM:618343
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Bicuspid aortic valve, Hypertelorism, Broad nasal tip, Micrognathia, Wide nasal... OMIM:618529
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Optic atrophy, Dilated cardiomyopathy, Respiratory insufficiency... OMIM:614299
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Deeply set eye, Breast aplasia, Hypertelorism OMIM:612242
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... OMIM:100100
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug... ORPHA:60025
Short Syndrome
Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Underdeveloped nasal alae, ... OMIM:269880
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Right atrial enlargement, Abnormal respira... ORPHA:99106
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Renal agenesis, Micrognathia, Hypertelorism, Ectopic kidney, Hypoplasia o... OMIM:212780
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia, Shallow orbits ORPHA:1129
Pterygium Colli, Isolated
Short nose OMIM:177990
Nizon-Isidor Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hypertelorism, Hypospadias, Bul... OMIM:618872
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Split hand, Facial di... OMIM:157900
Down Syndrome
Hypoplastic iliac wing, Atrial septal defect, Short palm, Conductive hearing impairment, Atrioven... OMIM:190685
Barth Syndrome
Mandibular prognathia, Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia,... OMIM:302060
Joubert Syndrome 14
Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Renal cyst, Intracranial hemorr... OMIM:614424
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
Cerebrooculofacioskeletal Syndrome 4
Deeply set eye, Abnormal heart morphology, Prominent nasal bridge, Micrognathia OMIM:610758
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Atrial septal defect, Aplastic clavicle, Abnormality of the hu... ORPHA:2538
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Hypospadias, Mitral stenosis, Hypertelorism, Underdeveloped nasal alae, C... ORPHA:163956
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Malaria
Respiratory distress ORPHA:673
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Hypertelorism, Short foot,... ORPHA:93258
Trisomy 9P
Abnormal nasal morphology, Deeply set eye, Impacted tooth, Hypertelorism ORPHA:236
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, Prominent fingertip pads, ... OMIM:612474
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, ... ORPHA:1145
Diaphanospondylodysostosis
Nephrogenic rest, Depressed nasal bridge, Micrognathia, Hypertelorism, Missing ribs, Depressed na... OMIM:608022
Poikiloderma With Neutropenia
Depressed nasal bridge, Hypertelorism, Underdeveloped nasal alae, Micrognathia, Carious teeth, Sp... OMIM:604173
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Short foot, Deeply set... ORPHA:250989
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short foot, Deeply set eye, Small hand, Hypertelorism OMIM:618089
Syngap1-Related Developmental And Epileptic Encephalopathy
Deeply set eye, Hypospadias ORPHA:544254
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Wide nasal bridge, Hypotelorism, Deeply set eye, Proptosis, Microp... OMIM:619435
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Deeply set eye, Nephrotic syndrome, Glomerular scle... OMIM:619428
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Short nose OMIM:618774
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Prominent nasal bridge, Micrognathia, Deeply set eye, Malar flattening OMIM:609944
Frank-Ter Haar Syndrome
Bowing of the long bones, Ventricular septal defect, Pectus excavatum, Metatarsus adductus, Secun... OMIM:249420
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Cryptorc... ORPHA:369891
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Deeply set eye, Bulbous nose, Depressed nasal bridge, Short nose OMIM:618430
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Deeply set eye, Hypopituitarism, Hypothyroidism OMIM:619013
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Depressed nasal bridge, Supernumerary nipple, Hypertelorism, Bulbous nose, Wide nasal bridge, Dee... OMIM:620098
Shwachman-Diamond Syndrome 1
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Anterior rib cupping, M... OMIM:260400
Trisomy 8P
Short fourth metatarsal, Abnormal atrioventricular connection, Fetal pyelectasis, Nephrocalcinosi... ORPHA:264450
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Deeply set eye, Atrial septal... ORPHA:2044
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Hearing impairment OMIM:616733
Myopathy And Diabetes Mellitus
Respiratory distress, Sensorineural hearing impairment ORPHA:2596
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Neurogenic bladder, Anteverted nares, Abnormal dental... ORPHA:2710
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Hydronephrosis OMIM:613735
Chromosome Xq13 Duplication Syndrome
Mandibular prognathia, Deeply set eye, Dilation of Virchow-Robin spaces, Autoimmune thrombocytopenia OMIM:301069
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Hypertelorism, Unilateral renal agenesis, Cryptorchi... OMIM:616737
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Choanal atresia,... ORPHA:1896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Stroke, Optic atrophy ORPHA:79312
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Oligosacchariduria, Hemiat... ORPHA:163649
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Micropenis, Multicystic kid... ORPHA:1596
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Hypospadias, Short hallux, Micrognathia, Hypertelorism, Short thumb, Abno... ORPHA:90652
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Deeply set eye, Malar flattening, Hypotelorism OMIM:268850
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Broad nasal tip, Hypertelorism, C... OMIM:612530
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypertelorism, Hypopla... OMIM:618021
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Deeply set eye, Cardiomegaly OMIM:619064
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Hypertelorism, Mitral valve prolapse, Deeply set eye,... OMIM:614816
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Microme... OMIM:259775
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... OMIM:241310
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Sho... OMIM:618571
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Neutropenia,... OMIM:618005
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia, Micrognathia ORPHA:1895
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Deeply set eye, Anteverted nares, Urinary incontinence OMIM:301041
Dermotrichic Syndrome
Short nose, Aminoaciduria, Depressed nasal bridge, Anemia ORPHA:99688
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Hypertelorism, Abnormal renal morphology, Proptosis, Hypoplasi... ORPHA:83
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Deeply set eye, Retrognathia, Micrognathia, Hypertelorism OMIM:616875
Pelviscapular Dysplasia
Hypoplastic scapulae, Short femur, Hypertelorism, Deeply set eye, Mesomelic leg shortening ORPHA:93333
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Proxi... OMIM:217980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Hypertelorism, Broad nasal tip, Wide nasal bridge, Shortening of all distal... OMIM:614749
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Hypertelorism, Cryptorchidism, Tetral... ORPHA:96147
20P13 Microdeletion Syndrome
Deeply set eye, Prominent nasal bridge, Hypertelorism ORPHA:313781
Endocrine-Cerebroosteodysplasia
Natal tooth, Hypospadias, Micromelia, Micrognathia, Adrenal hypoplasia, Cryptorchidism, Wide nasa... OMIM:612651
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deeply set eye ORPHA:1154
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Deeply set eye, P... OMIM:600987
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitu... OMIM:608612
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Wide nose, Ventricular septal defect, Prominent nasal bridge, Microgna... ORPHA:251028
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Deeply set eye, Lymphopenia, Prominent nose ORPHA:391307
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneou... ORPHA:335
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Micrognathia, Bulbous nose, Pat... OMIM:617061
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, H... OMIM:257300
Folinic Acid-Responsive Seizures
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Apnea ORPHA:79097
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Renal duplication, Depressed nasal bridge... OMIM:268310
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Hypertelorism, Wide nasal bridge, Hypoplasia of teeth, Proptosis, Short nose, Retro... OMIM:620250
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Hypotelorism, Deeply set e... ORPHA:2162
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Prominent antihelix, Acrocyanosis, Joint contracture of the 5th fin... OMIM:614407
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis, Low-... OMIM:202650
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Hypertelorism, Intraventricular hemorrhage, Wide nasal ... OMIM:616430
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Choanal atresia, Ventricular septal defect, Micrognathia, Crypto... OMIM:300712
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Multicystic kidney dysplasia, Depres... OMIM:614527
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Hypoplasia o... ORPHA:508533
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Short thumb, Bulbous nose, Cry... OMIM:620224
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arterios... OMIM:613309
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Undulate ribs, Fe... OMIM:618188
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Hypertelorism, Proptosis, Short nose, Retrognathia ORPHA:561
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Decreased... OMIM:615866
Campomelic Dysplasia
11 pairs of ribs, Depressed nasal bridge, Small abnormally formed scapulae, Hypertelorism, Microg... ORPHA:140
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Anteverted nares, Prominent nasal bridge, Micrognathia, Hypertelorism, Small hand, Short foot, De... OMIM:618443
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Ventricular septal defect, Proximal placement of thum... OMIM:610536
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardi... OMIM:115197
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Tapered finger, Abnormal heart morphology, Short finger, Acrocyanosis ORPHA:1867
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Short toe, Anterior open-bite malocclusion, Perimembranous ve... OMIM:617877
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, Ab... ORPHA:485405
Nipah Virus Disease
Respiratory distress, Vertigo, Cough ORPHA:99825
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, Underdevelope... ORPHA:1234
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Short toe, Abnormality of dental... ORPHA:1327
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pul... ORPHA:99103
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Hypoplastic right heart, Hypertelorism, Micrognathia, C... OMIM:616894
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Deeply set eye, Micropenis, Decreased t... OMIM:615663
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Zellweger Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Hypospadias, Ventricular septal defect, Mic... ORPHA:912
Premature Aging Syndrome, Penttinen Type
Short palm, Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Pr... OMIM:601812
Donnai-Barrow Syndrome
Depressed nasal bridge, Proteinuria, Ventricular septal defect, Hypertelorism, Broad nasal tip, N... OMIM:222448
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Tetrasomy 12P
Delayed eruption of teeth, Short nose, Anteverted nares, Hypertelorism ORPHA:884
Alg9-Cdg
Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, S... ORPHA:79328
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Situs inversus totalis, Synotia, Narrow ... ORPHA:990
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol... ORPHA:314655
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Ureterovesical stenosis, Micrognathia, Hypertelorism, A... ORPHA:314585
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Small hand OMIM:618618
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Hypertelorism, Broad nasal tip, Short toe, Abnormal renal morphology, Wide... OMIM:239300
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Deeply set eye, Micrognathia OMIM:618381
Penile Agenesis
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Maternal diabetes, Ventricular septa... ORPHA:49
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Hypertelorism, Micrognathia,... ORPHA:247262
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Cardiac Valvular Dysplasia 1
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... OMIM:212093
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Cryptorchidism, Dental mal... OMIM:616331
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Hypertelorism, Patent ductus... ORPHA:529962
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infections, Wide nasal ... OMIM:612513
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment ORPHA:391428
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Diabetes mellitus, Anteverted nares, Micrognathia, Hypotelorism, Hypoplasia of teeth, ... ORPHA:391408
Trisomy 20P
Anteverted nares, Hypospadias, Abnormality of the kidney, Micrognathia, Hypertelorism, Cryptorchi... ORPHA:261318
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Optic atrophy, Pectus carinatum, Low-set ears, Atrial sept... OMIM:619383
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Localized Scleroderma
Abnormality of the kidney, Abnormality of the nose, Vasculitis, Dental malocclusion, Abnormal fac... ORPHA:90289
Marfanoid-Progeroid-Lipodystrophy Syndrome
Prominent nasal bridge, Narrow nasal ridge, Mitral valve prolapse, Deeply set eye, Aortic root an... OMIM:616914
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Pectus carinatum, Arachnodactyly, Repeated pneumothor... ORPHA:536467
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Postaxial hand polydactyly... OMIM:619879
Achondroplasia
Respiratory distress, Brachydactyly, Radial bowing, Short femur, Thoracic hypoplasia, Bowing of t... OMIM:100800
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Cryptorchidism, Wide nasal ridge, Abnormal heart morphology ORPHA:531151
17Q12 Microduplication Syndrome
Atrial septal defect, Deeply set eye ORPHA:261272
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Short ribs, Short ... OMIM:613320
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Hypospadias, Micrognathia, Underdeveloped nasal alae, Carious teeth, Cryptorchi... OMIM:613026
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Hypertelorism, Stage 5 chronic kidney dis... OMIM:617729
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Unilateral renal ag... ORPHA:221139
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... OMIM:166250
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Hypertelorism, Supernume... ORPHA:3474
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exca... OMIM:271225
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Atrial septal defect, Sandal gap, Patent ductus arteriosus, Cupped ear, Sma... OMIM:612863
Warsaw Breakage Syndrome
Cutis marmorata, Ventricular septal defect, Hypoplasia of the cochlea, Optic disc coloboma, Cuppe... OMIM:613398
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Dyspnea, ... OMIM:211530
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Hypospadias, Ventricular septal defect, Hypertelorism, Atrial septal defect, Re... OMIM:616449
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Deeply set e... OMIM:193700
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Giant Cell Arteritis
Pericarditis, Aortic dissection, Epistaxis, Vertigo, Vasculitis, Optic atrophy, Cough, Conductive... ORPHA:397
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Micrognathia, Renal hypopla... OMIM:618460
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Eosinophilia, Wide nasal bridge, Deeply set eye, Vascular dilatation ORPHA:2314
1P21.3 Microdeletion Syndrome
Deeply set eye, Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Abnormal heart valve morphology, Hypertelorism, Cryptorchidism, Functional abn... ORPHA:2953
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Aplastic clavicle, Micro... ORPHA:50945
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:616007
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Depressed nasal bridge, Ad... OMIM:308050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Vesicoureteral reflux, Deeply set eye, Depressed nasal bridge, Anteverted nares OMIM:618797
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp... OMIM:269150
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Persistence of primary teeth, Absent frontal sinuses, Hyp... OMIM:305620
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Choanal atresia, Ventricular septal defect, Underdeveloped nasal... ORPHA:163979
Proximal 16P11.2 Microduplication Syndrome
Deeply set eye, Micropenis, Hypertelorism ORPHA:370079
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Tibial bowing, Femoral bowing, Respiratory failure, Narrow c... OMIM:616482
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Vent... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Splenomegaly, Perimem... OMIM:608779
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arterio... ORPHA:2282
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Meier-Gorlin Syndrome 1
Respiratory distress, Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous fing... OMIM:224690
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... ORPHA:226313
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Leber Congenital Amaurosis 8
Deeply set eye OMIM:613835
Warburg Micro Syndrome 2
Prominent nasal bridge, Cryptorchidism, Micropenis, Deeply set eye, Short nose OMIM:614225
Chops Syndrome
Anteverted nares, Ventricular septal defect, Hypertelorism, Cryptorchidism, Splenomegaly, Patent ... OMIM:616368
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Depressed nasal ridge, Short foot, Short palm, Short nose ORPHA:163966
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cryptorchidism, Short toe, Deeply set eye, Hypogonadism, Decreased testicula... ORPHA:127
Esophageal Atresia
Respiratory distress, Cyanosis, Ventricular septal defect, Laryngotracheomalacia, Episodic respir... ORPHA:1199
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Deeply set eye, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:447896
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Abnormal pinna morphology, Sandal gap, Sensorin... OMIM:607143
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Hypertelorism, Abnormal renal morphology, Short nose ORPHA:59315
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Atrial septal defect, Anteverted nares, Hypospadias, Ventricular s... ORPHA:2745
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Cryptorchidism, Small hand, Abnormal localization of kidney, Hematu... ORPHA:3121
Czeizel-Losonci Syndrome
Dextrocardia, Micrognathia, Ureteral agenesis, Abnormality of the urinary system, Congenital mega... ORPHA:2437
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism, Dental malocclusion, W... ORPHA:444072
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... OMIM:136140
Wolcott-Rallison Syndrome
Atrial septal defect, Metaphyseal dysplasia, Jaundice, Double outlet right ventricle ORPHA:1667
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Deeply set eye, Malar flattening, Short ... ORPHA:357001
C Syndrome
Short metacarpal, Anteverted nares, Ventricular septal defect, Micromelia, Micrognathia, Cryptorc... OMIM:211750
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Wide nose, Hydroureter, Depressed nasal bridge, Bicuspid aortic valve,... OMIM:300707
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus, Short nose, Dis... OMIM:300863
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Micromelia, Fetal pyelectasis, Abnormal circulating calcium... ORPHA:50810
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Micrognathia, Hypertelorism, Pancreatic st... OMIM:617052
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Wide nasal bridge, Hypertelorism OMIM:218000
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Telangie... OMIM:178600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Ventricular septal defect, Crypto... ORPHA:464311
7Q11.23 Microduplication Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Hypertelorism, Broad nasal tip... ORPHA:96121
Pelizaeus-Merzbacher Disease In Female Carriers
Deeply set eye, Neurogenic bladder, Abnormality of the lower urinary tract, Hypertelorism ORPHA:280229
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Patent ductus arteriosus, Proptosis, Choanal stenosis, Atrial septal defect, Sh... ORPHA:1790
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Pericardial effusion, Hypo... OMIM:617822
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Duplicated collecting system, Depressed nasal bridge, Ventricular sept... OMIM:280000
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Malar flattening, Short nose ORPHA:79113
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long... OMIM:613848
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Moderate albuminuria, Short toe, Hydronephrosis, Dela... OMIM:619269
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Hypertelorism, Malar fla... OMIM:601853
Distal Deletion 10Q
Atrial septal defect, Prominent nasal bridge, Prominent nose, Micrognathia, Patent ductus arterio... ORPHA:96148
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Vesicouret... ORPHA:3078
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Urinary incontinence, Micrognathia, Hypertelorism, Deeply set eye, Retractile testis, Low hanging... OMIM:617193
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Short fo... ORPHA:363659
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Short nose OMIM:610015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... OMIM:615398
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... OMIM:620067
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Deeply set eye OMIM:619059
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne... OMIM:619426
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Splenomegaly, Bulbous nose... OMIM:115150
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Pectus excavatum, Metaphyseal widening, Recurrent pneumonia, Clubbing, Opti... OMIM:617303
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Glandular hypospadias, Short nose, Hydronephrosis ORPHA:1358
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Diabetes insipidus, Hypertelorism, Underdeveloped nasal alae, Deeply set eye, HbH hemoglobin ORPHA:423479
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Deeply set eye, Malar flattening, Short nose OMIM:618590
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Micrognathia, Prominent nose, B... DECIPHER:81
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Anteverted nares, Hypospadias, Ventricular septal defect, Hypertelorism, M... ORPHA:464738
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Hypertelorism, Mi... OMIM:613458
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Deeply set eye, Depressed nasal bridge, Arteriovenous malformation ORPHA:60040
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Hypertelorism, Short proximal phalanx of finger, Cryptorchidi... OMIM:616638
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Hypotelorism, Deeply set eye, Hypoplasia of the thym... OMIM:264090
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Broad nasal tip, Hypertelorism, Dilatation of renal calices, Bulbous nose... ORPHA:466950
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S... ORPHA:90324
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... OMIM:212140
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Hypertelorism, Wide nasal bridge, Hypotelorism, Short femoral neck, Enamel agen... OMIM:614701
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Double outlet right ventricle,... OMIM:301043
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Depressed nasal bridge, Choan... OMIM:101200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Hydroureter, Anteverted nares, Proportionate shortening of all digits, Abnorma... ORPHA:280633
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcyti... ORPHA:906
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Narrow nasal ridge, Hypertelorism, Underdeveloped nasal alae, Crypto... OMIM:614438
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Mitral valve prolapse, Patent foramen ovale, Hypertelorism OMIM:615539
Congenital Myopathy 22A, Classic
Deeply set eye, Proptosis, Wide nasal bridge, Micrognathia OMIM:620351
Dyrk1A-Related Intellectual Disability Syndrome
Narrow nasal tip, Prominent nasal bridge, Anterior pituitary hypoplasia, Hypospadias, Unilateral ... ORPHA:464306
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Hypospadias, Hypertelorism, Micrognathia, Cryptorchidism, Bulb... OMIM:616975
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, B... OMIM:617157
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Neurogenic bladder, Hyperthyroidism, Ventricular septal ... ORPHA:488632
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Delayed epiphyseal ossif... OMIM:114290
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Micrognathia, Cardiomegaly, Secundum atrial septal defe... OMIM:300855
Desmosterolosis
Depressed nasal bridge, Renal agenesis, Micromelia, Micrognathia, Abnormality of the nose, Spleno... ORPHA:35107
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen... ORPHA:3097
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ventricular septal defect, Pneumonia, Episodic tachypnea, Pericardial effus... ORPHA:26793
Tetrasomy 9P
Micrognathia, Deeply set eye, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent g... ORPHA:3310
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Sensorineural hearing impairment, Hip dysplasia, Finger joi... ORPHA:544503
Bachmann-Bupp Syndrome
Cryptorchidism, Deeply set eye, Dilation of Virchow-Robin spaces, Hypertelorism OMIM:619075
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Hypertelorism, Underdeveloped nasal alae, Broad nas... OMIM:272950
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Myofiber disarray, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregu... OMIM:604377
Isolated Atp Synthase Deficiency
Respiratory distress, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Hy... ORPHA:254913
Fibrochondrogenesis 1
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Rhizomelia, Small hand, Fibular h... OMIM:228520
Rubinstein-Taybi Syndrome 1
Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorch... OMIM:180849
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocardit... ORPHA:183
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... OMIM:614753
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Atrial septal defect, Pelvic kidney, Antever... OMIM:619522
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Ventricular septal defect, Unilateral renal agenesis, Hypertelo... ORPHA:261337
Fetal Hydantoin Syndrome
Hypertelorism, Cryptorchidism, Depressed nasal ridge, Short nose, Short distal phalanx of finger ORPHA:1912
Koolen-De Vries Syndrome
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Prominent nasal ... OMIM:610443
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Thin ribs OMIM:300219
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Deeply set eye, Retrognathia, Micrognathia ORPHA:480898
Mucopolysaccharidosis, Type Iiid
Depressed nasal bridge, Anteverted nares, Hypertelorism, Heparan sulfate excretion in urine, Sple... OMIM:252940
Peroxisome Biogenesis Disorder 1A (Zellweger)
Anteverted nares, Hypospadias, Adrenal hypoplasia, Micrognathia, Hypertelorism, Cryptorchidism, P... OMIM:214100
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Hypertelorism, Abnormality of the endocrine system, ... ORPHA:487796
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Hypertelorism, Micrognathia, Bulbous nose, Depressed nasal... OMIM:156200
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus... OMIM:617088
Tularemia
Respiratory distress, Pneumonia, Otitis media, Cough, Pleural effusion ORPHA:3392
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Thrombocytopenia, Splenome... OMIM:608013
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Broad nasal tip, Hypoplasia of the max... ORPHA:79345
Acrofacial Dysostosis, Catania Type
Microretrognathia, Hypospadias, Carious teeth, Cryptorchidism, Small hand, Hypoplasia of the zygo... ORPHA:1786
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Aplasia of the 3rd finger OMIM:619218
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Secundum atrial septal defect, Deeply set eye, Pulmonic stenosis, Enamel ... OMIM:615802
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenomegaly, Hydroce... OMIM:605309
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Ectopic k... ORPHA:1519
Viss Syndrome
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Pectus cari... OMIM:619472
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy OMIM:615597
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli... OMIM:108720
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Short metatarsal, Concave nasal ridge, Proptosis, Shor... OMIM:251450
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Respiratory fai... ORPHA:3015
Malan Overgrowth Syndrome
Deeply set eye, Depressed nasal bridge ORPHA:420179
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Hip dislocation, Coxa vara, Pectus carinatum, Flattene... OMIM:183900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Depressed nasal bridge, Ventricular septal defect, Splenomeg... OMIM:619418
Distal Deletion 9P
Hypospadias, Hypertelorism, Wide nasal bridge, Proptosis, Short nose ORPHA:1642
Arthrogryposis, Distal, Type 5
Deeply set eye OMIM:108145
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Unilateral cryptorchidism, Flared nostrils, Hand oligodactyly, Fibular hy... OMIM:206920
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Hypertelorism, Short metatarsal, Short foot, Hydrone... OMIM:600383
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Atrial septal defect, Multicyst... ORPHA:373
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro... ORPHA:268261
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Micrognathia, Proptosis, Delayed puberty, Short nose, Convex... ORPHA:90154
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, Abnormal cardiomyocyte m... ORPHA:367
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... ORPHA:79330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Pitt-Hopkins Syndrome
Short fourth metatarsal, Short fifth metatarsal, Supernumerary nipple, Cryptorchidism, Flared nos... OMIM:610954
Otopalatodigital Syndrome, Type I
Short hallux, Hypertelorism, Absent frontal sinuses, Wide nasal bridge, Multiple impacted teeth, ... OMIM:311300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Facial pa... ORPHA:98915
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 Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Short nose, Depressed nasal bridge, Micrognathia OMIM:617802
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Proximal placement of thumb... OMIM:618619
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Micrognathia, Broad nasal tip, Cryptorchidism, Malar flatteni... OMIM:617557
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Micromelia, Hypertelorism, Polysplenia, Short nose, Cystic renal dysplasia, ... OMIM:200995
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Hypertelorism, Bilateral cryptorchidism, Bulbous nose, Deeply s... ORPHA:544488
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Aplasia of the distal phalanx o... ORPHA:364577
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Cleft helix, ... ORPHA:137888
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... ORPHA:2260
Houge-Janssens Syndrome 1
Deeply set eye, Hypertelorism OMIM:616355
Pettigrew Syndrome
Mandibular prognathia, Deeply set eye, Calvarial osteosclerosis, Prominent nose OMIM:304340
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Cockayne Syndrome A
Mandibular prognathia, Slender nose, Renal insufficiency, Proteinuria, Delayed eruption of primar... OMIM:216400
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... OMIM:261740
Vater/Vacterl Association
Renal dysplasia, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Renal agenesis, E... OMIM:192350
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the sc... ORPHA:2839
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
D-Glyceric Aciduria
Patent ductus arteriosus, Deeply set eye, Aminoaciduria, Micropenis OMIM:220120
Cadds
Short nose, Adrenal hypoplasia, Micrognathia ORPHA:369942
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Uretera... OMIM:309350
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, Hypertelorism, Deeply set eye, Mesomelia, Hydrone... OMIM:260660
Congenital Myopathy 17
Mandibular prognathia, Dental malocclusion, Narrow jaw, Renal hypoplasia, Proptosis, Ureteropelvi... OMIM:618975
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... OMIM:608836
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Cleidocranial Dysplasia 1
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... OMIM:119600
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Ventricular septal defect, Hypertelorism, Renal cyst, M... OMIM:617107
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... ORPHA:97214
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Protruding ear OMIM:268320
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Jaundice, Stroke, Prolonged neonatal jaundice OMIM:274150
Say-Barber-Miller Syndrome
Prominent nasal bridge, Hypertelorism, Broad nasal tip, Micrognathia, Carious teeth, Cryptorchidi... ORPHA:3132
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Dental malocclusion, Micrognathia, Hypotelorism ORPHA:329178
Trisomy 18
Microretrognathia, Cyclopia, Choanal atresia, Abnormality of the upper urinary tract, Hypertelori... ORPHA:3380
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenomegaly, ... ORPHA:2969
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Hypertelorism, Dilatation of renal calices, Bulbous nose... ORPHA:466943
Leukodystrophy, Hypomyelinating, 10
Malar flattening, Bulbous nose, Anteverted nares, Short nose OMIM:616420
Coffin-Siris Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Hypospadias, Broad nasal tip... ORPHA:1465
Congenital Myopathy 22B, Severe Fetal
Micrognathia, Wide nasal bridge, Deeply set eye, Proptosis, Short nose, Retrognathia OMIM:620369
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypertelorism, M... OMIM:180700
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Choanal atresia, Abnormal dental ... ORPHA:2750
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Hypertelorism, Cryptor... ORPHA:1340
Geroderma Osteodysplasticum
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Deeply set eye, Malar flattening OMIM:231070
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... ORPHA:49041
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing i... OMIM:606164
Cockayne Syndrome Type 1
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Crypt... ORPHA:90321
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Short nose ORPHA:2031
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Opsismodysplasia
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypertelorism... OMIM:258480
Peho Syndrome
Short nose, Retrognathia OMIM:260565
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Stroke ORPHA:927
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Depressed nasal bridge, Hypoplastic cervical vertebrae, Hypertelorism ORPHA:35173
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Supernumerary nipple, Wide nasal bridge, Hy... ORPHA:261349
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Deeply set eye, Enamel hypoplasia, Convex nasal ridge OMIM:610965
Stuve-Wiedemann Syndrome 1
Anteverted nares, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy, Deeply set ... OMIM:601559
Gapo Syndrome
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Ret... OMIM:230740
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Jacobsen Syndrome
Multicystic kidney dysplasia, Anteverted nares, Ventricular septal defect, Hypertelorism, Missing... ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae... ORPHA:453499
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Deeply set eye, Multinodular goiter, Micrognathia OMIM:620189
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductu... ORPHA:2962
Fetal Alcohol Syndrome
Atrial septal defect, Short nose, Anteverted nares, Micrognathia ORPHA:1915
Okamoto Syndrome
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Urinary incontinenc... ORPHA:2729
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stro... ORPHA:268943
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Wide nasal bridge, Hydroce... OMIM:613603
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Micrognathia, Depressed nasal bridge, Hypertelorism OMIM:619833
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... ORPHA:308552
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Deeply set eye, Aortic root aneurysm, Chordee, Type II diabetes mellitus, Delayed pu... OMIM:618891
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Wide nasal bridge, Hydronephrosis ORPHA:1297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Hypertelorism, Short femoral n... OMIM:616723
Coffin-Siris Syndrome 12
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Hype... OMIM:619325
Doors Syndrome
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Antever... ORPHA:79500
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Micrognathia OMIM:243440
Neonatal Marfan Syndrome
Micrognathia, Abnormal cardiac ventricle morphology, Wide nasal bridge, Mitral valve prolapse, De... ORPHA:284979
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Proptosis, Anteverted nares ORPHA:1185
Developmental And Epileptic Encephalopathy 2
Short foot, Deeply set eye, Anteverted nares, Small hand OMIM:300672
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus ORPHA:3004
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Anteverted nares, Broad nasal tip, Hypertelorism, Bulbous nose, Depressed nasa... OMIM:300966
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Micrognath... OMIM:614921
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atrioventric... ORPHA:818
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Hypotelorism, Micropenis, Hydronephrosis OMIM:617798
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye OMIM:278760
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Deeply set eye, Micrognathia, Depressed nasal bridge, Hypertelorism ORPHA:412069
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Pitt-Hopkins Syndrome
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Triangular nasal tip, Cryptorchid... ORPHA:2896
Fryns Syndrome
Microretrognathia, Ureteral duplication, Ectopic pancreatic tissue, Anteverted nares, Hypospadias... OMIM:229850
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery steno... OMIM:617913
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia OMIM:234050
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hypotelor... OMIM:300661
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Optic atrophy, Respiratory failure ORPHA:2707
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Deeply set eye... ORPHA:1606
Distal Deletion 12Q
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Low-set ears, Clinodactyly, Macrotia, Patent foramen ovale OMIM:616789
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ... ORPHA:3339
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hypertelorism, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fing... OMIM:614207
Angelman Syndrome
Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla OMIM:105830
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Choanal stenosis, Shallow orbits, Myeloid leukemia, Micropenis, Streak ... ORPHA:798
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Choanal stenosis, Atrial septal defect, Patent foramen ovale, Hypothyroidism, Depre... OMIM:620186
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Stroke-like episode OMIM:619272
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Ectopic kidney, H... ORPHA:233
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Hypospadias, Broad nasal tip, Hypertelorism, Micrognathia, Bulbous nose, ... OMIM:309590
Mgat2-Cdg
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Ventricular se... ORPHA:79329
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... OMIM:613001
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Short hallux, Hypertelorism, Hypoplasia of the maxilla,... OMIM:608156
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Patent ductus arteriosus, Bulbous nose, Deeply set eye, Retrognathia OMIM:619934
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Overriding aorta, Mi... ORPHA:3186
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... OMIM:300912
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Deeply set eye OMIM:614388
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Anteverted nares, Abnormal hemoglobin, A... ORPHA:847
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Ventricular sept... OMIM:617140
Trisomy 10P
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Hypertel... ORPHA:171929
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Choanal atresia, Mala... OMIM:251260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Mic... OMIM:619503
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, Atrial septal defect, Micr... OMIM:609945
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Patent ductus arteriosus, Optic atrophy, Pectus carina... ORPHA:505248
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Hypoparathyroidism, Depressed nasal b... ORPHA:235
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Proptosis, Short nose... OMIM:615803
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Aplasia/H... ORPHA:2306
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Hearing impairment OMIM:619580
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Intracranial hemorrhage, Conductive hearing impairment, Gene... ORPHA:740
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Hypertelorism, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Hypo... OMIM:618653
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte... ORPHA:51608
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hypertelorism, Prominent nose, Abnormal nostril morphology, Hydronephrosis ORPHA:101000
Episodic Ataxia Type 1
Respiratory distress, Vertigo ORPHA:37612
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... OMIM:609942
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Penoscrotal hypospadias, ... OMIM:270400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Ventricular septal defect, Partial anomalous pulmonary venous ... OMIM:301044
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Absent frontal sinuses, Ma... OMIM:154780
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, ... ORPHA:2554
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypertelorism, Absent urinary urothione, Increased urinary sulfite leve... OMIM:252150
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Recurrent urinary tract infections, Atrial septal defec... OMIM:616268
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Short palm, Atrial septal defect, Depressed nasal bridge, Ante... OMIM:312870
Geleophysic Dysplasia 2
Mitral stenosis, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Short foot, Aortic val... OMIM:614185
Poems Syndrome
Papilledema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Pericardial... ORPHA:2905
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Hypertelorism, Broad nasal tip, Micrognathia, Wide nasal bridge, Short nose OMIM:300749
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Abnormal pinna morphology, Neonatal death OMIM:231680
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Micromelia, Prominent nose, Long nose, Micrognathia, Bulb... ORPHA:2636
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Persistence of primary teeth, Micrognathia, Thrombocytopenia, Distal renal tubular ... ORPHA:2785
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Hypertelorism, Missing ribs,... OMIM:147791
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Hypertelo... OMIM:268400
Oculopharyngodistal Myopathy 1
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... OMIM:164310
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Waardenburg Syndrome Type 1
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Ververi-Brady Syndrome
Cupped ear, Transposition of the great arteries, Low-set ears, Clinodactyly of the 5th finger, Ma... OMIM:617982
Focal Dermal Hypoplasia
Narrow nasal bridge, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental ena... ORPHA:2092
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal ... OMIM:300166
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Hearing imp... ORPHA:365
Monosomy 22Q13.3
Renal dysplasia, Bulbous nose, Dental malocclusion, Wide nasal bridge, Deeply set eye, Vesicouret... ORPHA:48652
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypertelorism, Bulbo... OMIM:271510
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Jaundi... OMIM:615512
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea OMIM:618426
Opsismodysplasia
Hypoplastic vertebral bodies, Splenomegaly, Short nose, Depressed nasal bridge ORPHA:2746
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Patent ductus arteriosus, T... OMIM:602398
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Hypertelorism, Broad nasal tip, Carious teeth, Prominent veins on trunk, Promin... ORPHA:357074
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, Respiratory f... OMIM:620278
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Chondrodysplasia-Difference Of Sex Development Syndrome
Deeply set eye, Short metacarpal, Micromelia ORPHA:1422
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Underdeveloped nasa... OMIM:619005
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Sensorine... ORPHA:209905
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Hypoplas... OMIM:139210
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Micrognathia, Unilateral radial aplasia, Partial absence of thumb, Complete... ORPHA:476126
Frontometaphyseal Dysplasia
Short metacarpal, Micrognathia, Hypertelorism, Urethral stenosis, Short metatarsal, Wide nasal br... ORPHA:1826
Omodysplasia 1
Short humerus, Depressed nasal bridge, Rhizomelia, Ventricular septal defect, Micrognathia, Crypt... OMIM:258315
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Sinusitis, Ureteral stenosis, Epistaxis, Proteinuria, Abnorm... ORPHA:900
Lathosterolosis
Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Anisopoikilocytosis, Abnormal ... ORPHA:46059
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Hypertelorism, Patent ductus a... ORPHA:457395
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, D... ORPHA:534
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Hypertelorism, Trismus, Cryptorchidism, Dental malocclu... OMIM:227330
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abn... OMIM:247200
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Retrognathia, Anteverted nares, Hydronephrosis ORPHA:254528
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Dilatation of the cerebral artery, Shallow orbits, Malar flattening, Short nose... OMIM:612394
Farber Disease
Respiratory distress, CNS foam cells, Short toe, Respiratory insufficiency, Abnormal sternum morp... ORPHA:333
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Renal insufficiency, Proteinuria, Prominent nasal bridge, De... OMIM:133540
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone... OMIM:616835
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Short tibia OMIM:620306
Cholera
Abnormality of renal excretion, Deeply set eye, Stroke, Acute kidney injury, Decreased urine output ORPHA:173
Degcags Syndrome
Prominent nose, Micrognathia, Bilateral renal hypoplasia, Hypotelorism, Leukopenia, Iron deficien... OMIM:619488
Temtamy Preaxial Brachydactyly Syndrome
Short hallux, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short foot, Short palm, Short ... ORPHA:363417
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Leukocytosis, Renal hypoplasia, Micropenis, Deeply set eye, Hypoplasia... OMIM:619321
Al-Gazali Syndrome
Hydronephrosis, Micrognathia OMIM:609465
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger OMIM:277450
Tetrasomy 18P
Short nose ORPHA:3307
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... OMIM:200600
Holoprosencephaly 14
Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right... OMIM:619895
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Cryptorchidism, Atrial septa... ORPHA:261236
Lathosterolosis
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... OMIM:607330
Charge Syndrome
Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Hyperte... ORPHA:138
Warburg Micro Syndrome 3
Short nose, Micropenis, Decreased testicular size, Micrognathia OMIM:614222
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary... OMIM:213980
Down Syndrome
Depressed nasal bridge, Renal hypoplasia/aplasia, Abnormality of the lymphatic system, Depressed ... ORPHA:870
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hy... ORPHA:568
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Intracranial hemorrhage, Deeply set eye, M... OMIM:613406
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Deeply set eye, Hyperechogenic kidneys OMIM:620047
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Peroxisome Biogenesis Disorder 4B
Short nose, Adrenal insufficiency, Ureterocele, Hypertelorism OMIM:614863
Cockayne Syndrome
Urinary incontinence, Deeply set eye, Retinal arteriolar constriction, Cryptorchidism, Renal hypo... ORPHA:191
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Hypertelorism,... OMIM:244450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Hypospadias, Cryptorchidism, ... ORPHA:353281
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose ORPHA:2557
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Cyanosis, Apnea, Optic neuropathy, Sensorineural hearing impairment, Concentri... OMIM:252010
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal pericardium morphology, Pro... ORPHA:35687
Kawasaki Disease
Pericarditis, Proteinuria, Abnormal heart valve morphology, Recurrent pharyngitis, Leukocytosis, ... ORPHA:2331
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Optic atrophy, Stroke-like episode,... ORPHA:137675
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Sensorineural hearing impairment, Cyanosis, Genu valgum ORPHA:488627
Oculodentodigital Dysplasia
Narrow nasal bridge, Atrial septal defect, Neurogenic bladder, Anteverted nares, Underdeveloped n... OMIM:164200
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Concave nasal ridge, Hemiatrophy, Malar flattening, Hydronephrosis OMIM:302960
3Mc Syndrome 1
Ventricular septal defect, Supernumerary nipple, Hypertelorism, Patent ductus arteriosus, Short f... OMIM:257920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ... ORPHA:353277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Hardikar Syndrome
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Patent duct... OMIM:301068
Ctcf-Related Neurodevelopmental Disorder
Anteverted nares, Broad nasal tip, Hypertelorism, Cryptorchidism, Phimosis, Patent ductus arterio... ORPHA:363611
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Abnormal aortic arch morphology, ... ORPHA:96334
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Micrognathia, Intracranial hemorrhag... ORPHA:109
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Anteverted nares, Prominent nose, Broad nasal tip, Precocious puberty, Bul... OMIM:619950
Developmental And Epileptic Encephalopathy 84
Deeply set eye OMIM:618792
Exudative Vitreoretinopathy 2, X-Linked
Deeply set eye OMIM:305390
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Prominent na... ORPHA:96123
Orofaciodigital Syndrome Type 4
Wide nose, Monorchism, Choanal atresia, Micromelia, Hypertelorism, Micrognathia, Renal hypoplasia... ORPHA:2753
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Flaring of rib cage OMIM:612852
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Cardiomegaly, Hearing impairment ORPHA:349
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Bro... ORPHA:453504
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion ORPHA:292
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Bro... ORPHA:352665
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineura... OMIM:618733
Marshall-Smith Syndrome
Bilateral cryptorchidism, Choanal stenosis, Shallow orbits, Atrial septal defect, Dysplastic aort... OMIM:602535
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Hypertelorism, Urethral atresia, Short ribs, Hydronephrosis OMIM:271520
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorchidism, Hypoplasia of... ORPHA:2879
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Horseshoe kidney, Subvalvular aort... ORPHA:65286
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Postaxial polydactyly, Lateral clavicle hook, Complete atrioventricula... OMIM:617925
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Sensorineural hearing impairment, Patent... ORPHA:17
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Hypertelorism, Absent nasal septal cartilage, Wide... OMIM:610828
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Hypertelorism, Micrognathia, Renal hypoplasia/aplasia, Abno... ORPHA:363700
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata, Transient isc... ORPHA:3260
Coffin-Siris Syndrome 1
Ectopic kidney, Hypotelorism, Atrial septal defect, Depressed nasal bridge, Hypospadias, Hypertel... OMIM:135900
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Schneckenbecken Dysplasia
Hypoplastic scapulae, Short ribs, Limb undergrowth, Malar flattening, Short nose OMIM:269250
Frontofacionasal Dysplasia
Hypertelorism, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattenin... OMIM:229400
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Hypertelorism, Xanthinuria, Increased ... OMIM:252160
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorch... ORPHA:83617
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Deeply set eye, Atrial septal defec... OMIM:607872
Mowat-Wilson Syndrome
Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Supernumerary nipple, Hypertel... OMIM:235730
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary arter... OMIM:600460
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Anteverted nar... ORPHA:3107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Faundes-Banka Syndrome
Premature thelarche, Micrognathia, Hypertelorism, Underdeveloped nasal alae, Bulbous nose, Crypto... OMIM:619376
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Hypertelorism, Cryptorchidism, Shallow orbits, Malar flattening, Short no... OMIM:601353
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Malar flattening, Short nose, Anteverted nares OMIM:219200
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hydronephrosis, Hepatosplenomegaly ORPHA:541423
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Toriello-Carey Syndrome
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abn... ORPHA:3338
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Short metacarpal, Internal carotid artery dissection, Bicuspid aortic valv... OMIM:150230
Hypotonia, Ataxia, And Delayed Development Syndrome
Anteverted nares, Prominent nasal bridge, Hypertelorism, Broad nasal tip, Cryptorchidism, Deeply ... OMIM:617330
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Micrognathia, Complete atrioventricular... OMIM:236680
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Situs inversus tota... ORPHA:1449
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Ventricular septal defect, Pulmonary arter... OMIM:301030
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Spondylocarpotarsal Synostosis Syndrome
Short metacarpal, Anteverted nares, Hypertelorism, Broad nasal tip, Hypoplasia of the odontoid pr... OMIM:272460
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microgn... OMIM:618332
Bartsocas-Papas Syndrome 1
Short metacarpal, Hypoplastic scapulae, Hypertelorism, Hypoplasia of the maxilla, Micrognathia, U... OMIM:263650
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test... ORPHA:319182
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Hyperventilation, Sensorineural hearing impairment... ORPHA:79241
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Hypertelorism, Cryptorchidism, Mitral valve prolapse, Nephrotic syndrome, Shor... OMIM:601776
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic nervous... ORPHA:1051
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hy... ORPHA:261112
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Hypertelorism, Short foot, Short nose ORPHA:1974
Kasabach-Merritt Syndrome
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Purpura ORPHA:2330
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Micrognathi... ORPHA:444077
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Deeply... OMIM:619534
Liver Disease, Severe Congenital
Micrognathia, Biliary hyperplasia, Cardiomegaly, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial... OMIM:619991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly... OMIM:102700
Myasthenia Gravis
Dyspnea, Acrocyanosis, Hearing impairment ORPHA:589
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormality of the temporomandibular joint, Agenesis of pineal gland, Depr... ORPHA:536471
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Thi... ORPHA:1555
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Optic atrophy, Subdur... ORPHA:79282
17Q11 Microdeletion Syndrome
Abnormal internal carotid artery morphology, Deeply set eye, Elevated circulating parathyroid hor... ORPHA:97685
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Hydroureter, Renal agenesi... OMIM:258040
Acrocallosal Syndrome
Mandibular prognathia, Microretrognathia, Hypospadias, Abnormal pulmonary valve morphology, Hyper... OMIM:200990
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Multicystic kidney dysplasia, Ventricular septal defect, Pr... OMIM:606170
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Op... OMIM:620025
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Deeply set eye, Wide nose, Hypertelorism OMIM:616078
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Bulbous nose, Mesiodens, Deeply set eye ORPHA:314647
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Ma... OMIM:601088
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Myocarditis, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Absent thumb, Short thumb, Cari... ORPHA:2363
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Abnormal pinna morphology, Humeroradial sy... ORPHA:3404
Cocaine Intoxication
Respiratory distress, Aortic dissection, Cerebral hemorrhage, Subarachnoid hemorrhage, Wheezing, ... ORPHA:90068
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Deeply set eye OMIM:617296
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se... OMIM:147920
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Abnormal heart morphology... ORPHA:457279
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Ecchymosis ORPHA:36234
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis impe... OMIM:610682
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Hyperte... ORPHA:141099
Williams-Beuren Syndrome
Bicuspid aortic valve, Hypotelorism, Nephrocalcinosis, Early onset of sexual maturation, Vesicour... OMIM:194050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Hypospadias, Bicuspid aortic valve, Hypertelorism, Ventricular septal defect, B... OMIM:619475
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiomyopathy, Abnormal autonomic nervous system physiology, Aspira... ORPHA:2131
Intellectual Developmental Disorder, Autosomal Dominant 54
Deeply set eye, Urinary retention, Delayed eruption of primary teeth, Neutropenia OMIM:617799
Marfan Syndrome
Bicuspid aortic valve, Micrognathia, Mitral annular calcification, Mitral valve prolapse, Deeply ... OMIM:154700
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Posteriorly rotated ears, Overlapping toe, Optic atrophy, Atresia of the ex... OMIM:123790
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Recurrent urinary tract infections, Anteverted nares, Decreased response to... OMIM:615873
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Depressed nasal bridge, Transient ischemic attack, Unilateral renal agenesis,... ORPHA:500150
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormality of the u... ORPHA:2719
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Abnormal long bone morphology, ... ORPHA:228123
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Deeply set eye, Ves... ORPHA:2152
Adnp Syndrome
Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Abnormal finger morpholo... ORPHA:404448
Occipital Horn Syndrome
Short humerus, Convex nasal ridge, Ureteral obstruction, Bladder diverticulum, Short clavicles, H... OMIM:304150
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Depressed nasal bridge, Micromelia, Hypertelorism, Micrognathia, Hypoplasia of ... OMIM:271665
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Micrognathia, ... ORPHA:904
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Deeply set eye, Ves... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Deeply set eye, Retrognathia OMIM:614643
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Deeply set eye, Ves... ORPHA:261537
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Cryptorchidism, Bulbous nose... ORPHA:506358
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Depressed nasal bridge, Choanal atresia, Prominent nose, Abnormal circulating thyroid hormone con... ORPHA:480880
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Hypertelorism, Cryptorchidism... OMIM:618820
Focal Dermal Hypoplasia
Ureteral duplication, Cleft ala nasi, Short metatarsal, Foot oligodactyly, Short metacarpal, Cryp... OMIM:305600
Hyperoxaluria, Primary, Type I
Cutis marmorata, Optic neuropathy, Peripheral arterial stenosis, Optic atrophy, Acrocyanosis OMIM:259900
Fontaine Progeroid Syndrome
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Absent nipple, Depresse... OMIM:612289
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Proteinuria, Hypertelorism, Pericardial effusion, Cryptorch... ORPHA:1272
Dend Syndrome
Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Restrictive ventilatory defect, Cough, Abnormal myocardium morpho... ORPHA:537
Peho Syndrome
Malar flattening, Short nose, Anteverted nares ORPHA:2836
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Hypertelorism, Malar flattening, Short nose OMIM:605627
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased... ORPHA:100078
Cerebrofaciothoracic Dysplasia
Wide nose, Short nose, Hypertelorism ORPHA:1394
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Jaundice, Endocarditis, Respiratory f... ORPHA:533
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Hypoplasia of penis, Depressed nasal bridge, Micromelia, Micrognathia, Urethrovaginal ... ORPHA:93271
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormality of the outer ear, ... ORPHA:1546
Adenylosuccinase Deficiency
Short nose, Anteverted nares OMIM:103050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Respiratory distress ORPHA:438216
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... ORPHA:93357
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Facial palsy, Respiratory paraly... ORPHA:79139
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Depressed nasal bridge, Hypospadias, Short hallux, Micrognathia, Hypertelorism,... OMIM:304120
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Vascular Ehlers-Danlos Syndrome
Deeply set eye, Peripheral arteriovenous fistula, Hypospadias, Hypertelorism, Cryptorchidism, Var... ORPHA:286
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing,... ORPHA:287
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocr... ORPHA:438213
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory insufficiency, Transposit... OMIM:253800
Kleefstra Syndrome 1
Abnormal pinna morphology, Hearing impairment, Conotruncal defect, Tracheobronchomalacia, Brachyd... OMIM:610253
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Intracranial hemorrhage, Respiratory failure... ORPHA:340
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Optic atrophy, D... ORPHA:255210
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral ... ORPHA:48435
Pachyonychia Congenita
Respiratory distress, Ear pain ORPHA:2309
Geleophysic Dysplasia 1
Anteverted nares, Mitral stenosis, Tricuspid stenosis, Short foot, Aortic valve stenosis, Short p... OMIM:231050
Stüve-Wiedemann Syndrome
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Metaphyseal widen... ORPHA:3206
Intellectual Developmental Disorder, Autosomal Dominant 38
Deeply set eye, Depressed nasal bridge OMIM:616393
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest... OMIM:614748
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Hypertelorism, Micro... ORPHA:828
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... OMIM:305100
Trichothiodystrophy 1, Photosensitive
Short nose, Retrognathia, Hypogonadism OMIM:601675
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Knobloch Syndrome 1
Duplicated collecting system, Depressed nasal bridge, Bulbous nose, Patent ductus arteriosus, Bif... OMIM:267750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Short nose, Micrognathia OMIM:617527
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Cutis marmorata, Tapere... OMIM:303600
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Sensorineural hearing impairment, Asthma, Car... ORPHA:293987
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Short metata... OMIM:261540
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Abnormality of the ear, Abnormal earlobe morphology, Dil... ORPHA:2556
Acromesomelic Dysplasia 1
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema, Vasculitis, Respiratory insuffic... ORPHA:221
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... ORPHA:99646
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Colchicine Poisoning
Respiratory distress, Myocarditis, Cardiorespiratory arrest ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Prominent n... OMIM:620330
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Aspartylglucosaminuria
Mandibular prognathia, Aspartylglucosaminuria, Hypertelorism, Carious teeth, Splenomegaly, Wide n... ORPHA:93
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Nephroblastoma, Cardiac fibroma, Short nose ORPHA:77301
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Recurrent urinary tract infections, Hypotelorism, Deeply set eye, Dilatation of the... OMIM:613658
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Short metacarpal, Anteverted nares, Cryptorchidism, Bulbous nose, Short meta... OMIM:601358
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Ureteral... ORPHA:1662
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Dilation of Virchow-Robin spaces, Small hand, Short foot, Low-set ears, Dec... OMIM:615273
C Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia,... ORPHA:1308
Primrose Syndrome
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Hypergonadotropic hypogonadism, Broa... OMIM:259050
Plaa-Associated Neurodevelopmental Disorder
Short nose, Micrognathia ORPHA:521426
Cornelia De Lange Syndrome
Delayed eruption of teeth, Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasi... ORPHA:199
Proteus Syndrome
Thymus hyperplasia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ... ORPHA:744
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Urticaria, Interstitial pneumonitis, Pneumonia, Respiratory distress ORPHA:37042
Aicardi-Goutières Syndrome
Cutis marmorata, Cardiomegaly, Calcification of the aorta, Aortic aneurysm, Low-set ears, Prolong... ORPHA:51
Primary Hyperoxaluria
Optic disc pallor, Cutis marmorata, Optic atrophy, Cardiomyopathy, Acrocyanosis ORPHA:416
Carpenter Syndrome 2
Preaxial polydactyly, Coxa vara, Protruding ear, Pectus carinatum, Cutaneous finger syndactyly, A... OMIM:614976
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Long fingers, P... OMIM:256520
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop... OMIM:313850
Tuberous Sclerosis Complex
Respiratory distress, Cardiac rhabdomyoma, Aortic aneurysm, Respiratory failure, Generalized abno... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder, Congenital hypothyroidism OMIM:616973
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Ventricular septal defect, Urethrovaginal fistula, Underdeveloped... OMIM:243800
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Isolated Arrhinia
Respiratory distress, Microtia ORPHA:1134
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy ORPHA:1764
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice OMIM:617156
Norrie Disease
Narrow nasal bridge, Diabetes mellitus, Venous insufficiency, Cryptorchidism, Hypotelorism, Deepl... ORPHA:649
Sotos Syndrome
Ureteral duplication, No permanent dentition, Atrial septal defect, Vesicoureteral reflux, Hypoth... ORPHA:821
Leptospirosis
Respiratory distress, Papilledema, Pericarditis, Jaundice, Cough, Pleural effusion ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Decreased testicular ... OMIM:615287
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity, Venous insufficiency, Vertigo, Hip dislocation, Ascen... ORPHA:285
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Prominent nasal tip, Short nose ORPHA:522077
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormal dental enamel morphology, Choanal atresia, Abnormality of the upper urinary... ORPHA:2273
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... ORPHA:64
Gitelman Syndrome
Respiratory distress, Pericardial effusion, Vertigo, Varicose veins, Tinnitus ORPHA:358
Craniorachischisis
Bifid sternum ORPHA:63260
Pallister-Killian Syndrome
Micrognathia, Renal cyst, Short palm, Atrial septal defect, Depressed nasal bridge, Anteverted na... OMIM:601803
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Neuroocular Syndrome
Deeply set eye, Retrognathia, Patent foramen ovale OMIM:619539
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Lipodystrophy, Familial Partial, Type 7
Polyuria, Pulmonary arteriovenous malformation, Narrow nasal ridge, Type I diabetes mellitus, Sho... OMIM:606721
Plague
Respiratory distress, Acute infectious pneumonia, Endocarditis, Hearing impairment ORPHA:707
Pmm2-Cdg
Respiratory distress, Pericarditis, Abnormal pinna morphology, Pericardial effusion, Long fingers... ORPHA:79318

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 Dvl3

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 Dvl3.

No publications found that use IMPC mice or data for Dvl3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dvl3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dvl3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dvl3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dvl3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dvl3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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