Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dishevelled segment polarity protein 3
Synonyms:
b2b2866Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dvl3 mutations

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

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

The table below shows human diseases associated to Dvl3 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Recurrent o... OMIM:618254
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular sep... OMIM:228940
8P23.1 Duplication Syndrome
Adrenal insufficiency, Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal... ORPHA:251076
Mental Retardation Syndrome, Belgian Type
Deeply set eye, Hypergonadotropic hypogonadism, Cleft ala nasi, Wide nose, Diabetes mellitus, Man... OMIM:249599
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Clubbing OMIM:219400
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
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, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Genitopalatocardiac Syndrome
Double outlet right ventricle, Micrognathia, Hypospadias, Ventricular septal defect, Renal cyst, ... OMIM:231060
14Q11.2 Microdeletion Syndrome
Deeply set eye, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Pate... ORPHA:261120
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Hypertelorism, Promine... ORPHA:1200
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Alazami Syndrome
Deeply set eye, Malar flattening, Depressed nasal bridge, Wide nose, Wide nasal bridge OMIM:615071
Progressive Hemifacial Atrophy
Micrognathia, Deeply set eye, Abnormal mandible morphology ORPHA:1214
Forsythe-Wakeling Syndrome
Deeply set eye, Prominent nasal bridge, Nephrotic syndrome, Thrombocytopenia OMIM:613606
Cholesterol Pneumonia
Cyanosis, Pneumonia, Cough, Tachypnea OMIM:215030
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism OMIM:614069
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Deeply set eye, Low hanging columella, Unilateral renal agenesis, Long nose,... OMIM:613680
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Bardet-Biedl Syndrome 7
Deeply set eye, Malar flattening, Depressed nasal bridge, Hypogonadism, Hypertelorism OMIM:615984
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Tetralogy of Fallot ORPHA:276422
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Short nose, Vascul... OMIM:616430
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Deeply set eye, Retrognathia, Anteverted nares, Hypertelorism, Wide nasal bridge OMIM:615979
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus, Hyper... OMIM:125700
Xq27.3Q28 Duplication Syndrome
Bulbous nose, Deeply set eye, Small hand, Short foot, Decreased testicular size, Hypogonadism, Cr... ORPHA:261483
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Wilson-Turner Syndrome
Deeply set eye, Small hand, Broad nasal tip, Micrognathia, Hypogonadotropic hypogonadism, Short f... ORPHA:3459
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Deeply set eye, Underdeveloped nasal alae, Truncus arteriosus OMIM:611867
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Deeply set eye OMIM:617915
Double Outlet Right Ventricle
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... ORPHA:3426
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Non-Distal Trisomy 10Q
Convex nasal ridge, Cryptorchidism, Depressed nasal bridge, Micrognathia, Abnormality of the urin... ORPHA:1695
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Micrognathia, Proptosis, Short nose, Mandibular aplasia, Ant... ORPHA:1832
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... OMIM:618164
17Q21.31 Microduplication Syndrome
Malar flattening, Micrognathia, Short nose, Delayed puberty, Anteverted nares ORPHA:217340
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Hypospadias, Tetralogy of Fallot, Abnormal na... ORPHA:1919
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Deeply set eye, Cerebral hemorrhage, Decreased response to growth hormone stimul... ORPHA:280679
Neuralgic Amyotrophy
Sprengel anomaly, Respiratory insufficiency, Scapular winging, Acrocyanosis ORPHA:2901
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... ORPHA:185
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Deeply set eye, Atrial septal defect, Cryptorchidism, Depressed na... OMIM:618316
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Deeply set eye, Nephrotic syndrome, Folate-unresponsive megaloblastic anemi... ORPHA:2575
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Malar flattening, Pulmonic s... OMIM:179613
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Abnormal renal morphology, Limb undergrowth, Short nos... ORPHA:221054
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Deeply set eye, Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Retro... OMIM:300845
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... ORPHA:141152
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Tetralogy of Fallot, Ventricular sep... ORPHA:1727
Orofaciodigital Syndrome Xv
Anteverted nares, Hypertelorism, Hydronephrosis, Wide nasal bridge OMIM:617127
Perlman Syndrome
Deeply set eye, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Retrognathia... ORPHA:2849
Image Syndrome
Depressed nasal bridge, Hypospadias, Micromelia, Adrenal hypoplasia, Hydronephrosis, Hypogonadism... ORPHA:85173
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... OMIM:155050
Pleural Mesothelioma
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... ORPHA:50251
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Short distal phalanx of finger, Truncus arteriosus OMIM:601355
Autosomal Dominant Omodysplasia
Cryptorchidism, Malar flattening, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Shor... ORPHA:93328
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology OMIM:218450
Adams-Oliver Syndrome 6
Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus... OMIM:616589
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Low-set ears, Atrial septal defect, Cyanosis, Tetralogy of Fa... OMIM:617478
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... ORPHA:70589
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Short thumb, Pulmonary artery atresia, Ventricular septal d... ORPHA:401935
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Recurrent otitis media, 2-3 toe syndactyly, Atrial septal defect, ... ORPHA:3304
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
2q37 monosomy
Deeply set eye DECIPHER:44
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Tapered finger, Short finger OMIM:302000
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Micrognathia, Short nose, Renal hypoplasi... OMIM:266810
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... ORPHA:91359
Stuve-Wiedemann Syndrome 2
Respiratory distress, Short long bone, Neonatal death, Camptodactyly, Bowing of the long bones, P... OMIM:619751
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Misalignment of the pulmonary veins, Neonatal respira... OMIM:265120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defect, Aplas... ORPHA:40366
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Cyanosis, Abnormal... ORPHA:980
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Deeply set eye, Underdeveloped nasal alae OMIM:612138
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Hypertelorism, Enuresis OMIM:613670
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Hypospadias, Short nose, Depressed nasal ridge ORPHA:1355
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose, Deeply set eye ORPHA:2429
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough... ORPHA:2302
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Rhiny
Anteverted nares, Short nose OMIM:180360
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Mandibular prognathia, Deeply set eye, Prominent nose, Wide nasal bridge ORPHA:137831
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Respir... ORPHA:2299
Galloway-Mowat Syndrome 5
Deeply set eye, Nephrotic syndrome, Proteinuria, Mandibular prognathia, Hypertelorism, Stage 5 ch... OMIM:617731
Megalencephaly
Deeply set eye, Atrial septal defect, Long penis, Wide nasal bridge, Macroorchidism ORPHA:2477
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Situs inversus totalis, Hypertrophic ca... OMIM:615415
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
6P22 Microdeletion Syndrome
Deeply set eye, Patent ductus arteriosus, Hydronephrosis, Hypotelorism ORPHA:251046
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Micrognathia, Proptosis, Short nose, Short foot, Short metacarpal, Wide nasal bridge OMIM:614078
Primary Pulmonary Hypoplasia
Low-set ears, Apnea, Asthma, Secundum atrial septal defect, Cyanosis, Tachypnea, Pneumothorax, De... ORPHA:2257
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Tetralogy Of Fallot
Proptosis, Tetralogy of Fallot OMIM:187500
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Deeply set eye, Broad nasal tip, Broad columella, Hypothyroidism, Anteverted nares, Wide nasal base OMIM:617763
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Abnormal nasal morphol... ORPHA:93110
Glycogen Storage Disease Iii
Deeply set eye, Malar flattening, Broad nasal tip, Depressed nasal bridge, Ventricular hypertroph... OMIM:232400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Cyanosi... ORPHA:2414
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Depressed nasal bridge, Short nose, Microphallu... OMIM:618454
Cornelia De Lange Syndrome 5
Deeply set eye, Cryptorchidism, Micropenis, Retrognathia, Broad nasal tip, Depressed nasal bridge... OMIM:300882
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D... OMIM:617241
Pierpont Syndrome
Short toe, Deeply set eye, Cryptorchidism, Malar flattening, Micropenis, Broad nasal tip, Short n... OMIM:602342
Hemifacial Atrophy, Progressive
Dental malocclusion, Deeply set eye, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Tetralogy Of Fallot
Abnormal nasal morphology, Proptosis, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Gand Syndrome
Broad nasal tip, Hypertelorism, Deeply set eye, Wide nasal bridge OMIM:615074
Rhyns Syndrome
Hypopituitarism, Deeply set eye, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Chromosome Xq27.3-Q28 Duplication Syndrome
Bulbous nose, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Small h... OMIM:300869
X-Linked Intellectual Disability, Schimke Type
Deeply set eye, Vesicoureteral reflux, Hydronephrosis, Narrow nasal bridge ORPHA:85285
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Deeply set eye, Malar flattening, Retrognathia, Broad nasal tip, Depressed nasal bridge, Antevert... OMIM:617157
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Respiratory failure, Ab... ORPHA:244
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Micrognathia, Hydroureter, Abnormality of the upper urinary tract, Short nos... ORPHA:2547
Williams-Beuren Region Duplication Syndrome
Deeply set eye, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,... OMIM:609757
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye OMIM:619058
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Dilated cardiomyopathy, Facial palsy, Respirator... OMIM:300580
Mental Retardation, X-Linked 91
Small hand, Short nose, Short 5th finger, Short foot OMIM:300577
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hypotelorism, Hand oligodactyly, Absent thumb, Hypoplasia of the ... OMIM:602418
Chromosome 14Q11-Q22 Deletion Syndrome
Deeply set eye, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Wide... OMIM:613457
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Malar flattening, Micropenis, Renal agenesis, Depressed nasal bridge, Micrognathi... ORPHA:171839
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short distal phalanx of finger, Abnormal aortic morphology, Truncus ar... ORPHA:2516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Perching Syndrome
Respiratory distress, Camptodactyly OMIM:617055
Nabais Sa-De Vries Syndrome, Type 2
Bulbous nose, Deeply set eye, Hypoplastic left heart, Depressed nasal bridge, Micrognathia, Multi... OMIM:618829
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Bulbous nose, Deeply set eye, Low hanging columella, Renal ag... OMIM:618494
Pallister-Hall-Like Syndrome
Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Anterior hypopituitaris... OMIM:241800
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Deeply set eye, Aminoaciduria ORPHA:833
Tetraploidy
Renal hypoplasia/aplasia, Convex nasal ridge, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of... ORPHA:3305
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Deeply set eye, Hypospadias OMIM:300934
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Deeply set eye, Prominent nose OMIM:615541
Chromosome 18P Deletion Syndrome
Cryptorchidism, Micropenis, Micrognathia, Decreased testicular size, Anteverted nares, Hypertelor... OMIM:146390
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Deeply set eye, Micrognathia, Hypertelorism, Wide nasal bridge ORPHA:261304
Fetal Minoxidil Syndrome
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia ORPHA:1918
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... ORPHA:95430
X-Linked Intellectual Disability, Cilliers Type
Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Small hand, Hypergona... ORPHA:163971
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Horner Syndrome, Congenital
Deeply set eye OMIM:143000
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Short nose,... ORPHA:1529
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Short nose, Neutropenia, Hypertelorism, Wid... OMIM:612563
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Hearing impairment, Pat... OMIM:617516
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea, C... OMIM:610910
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dental malocclusion, Deeply set eye, Atrial septal defect, Low hanging columella, Muscular ventri... ORPHA:363444
Pettigrew Syndrome
Mandibular prognathia, Deeply set eye, Prominent nose OMIM:304340
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye OMIM:300471
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Deeply set eye, Pseudohypoparathyroidism, Cryptorchidism, De... ORPHA:464288
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Pectus excavatum, Camptodactyly of finger, Respiratory insufficiency, Abnor... OMIM:614399
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure, Nasal... ORPHA:70587
Fetal Trimethadione Syndrome
Atrial septal defect, Depressed nasal bridge, Micrognathia, Hypospadias, Tetralogy of Fallot, Ven... ORPHA:1913
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Deeply set eye, Hypoplastic left heart, Cryptorchidism, Atrio... ORPHA:251071
Chromosome 20Q11-Q12 Deletion Syndrome
Hypertelorism, Deeply set eye OMIM:614257
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Small hand, Left ventricular hypertrophy, Micrognathia, Anemia, Hypospadias, Rhiz... OMIM:611209
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Micrognathia, Bulbous nose, Deeply set eye, Short nose OMIM:613604
Maternal Phenylketonuria
Double outlet right ventricle, Hypotelorism, Hypoplastic left heart, Micrognathia, Coarctation of... ORPHA:2209
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short ribs, Depressed nasal bridge, Limb undergrowth, Proptosis, Short nose, Patent ductus arteri... OMIM:618961
20Q11.2 Microdeletion Syndrome
Hypertelorism, Deeply set eye ORPHA:444051
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Deeply set eye, Cryptorchidism, Hypoplasia of the maxilla, Decreased testicular size, Short palm,... ORPHA:85279
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Hydronephrosis OMIM:264140
Borjeson-Forssman-Lehmann Syndrome
Short toe, Deeply set eye, Shortening of all distal phalanges of the fingers, Micropenis, Delayed... OMIM:301900
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Co... ORPHA:2008
Joubert Syndrome 37
Deeply set eye, Cryptorchidism, Micropenis, Wide nose, Decreased testicular size, Hydronephrosis,... OMIM:619185
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Congenital hip dislocation, Macro... OMIM:609029
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Harel-Yoon Syndrome
Deeply set eye, Micrognathia, Short nose, Mandibular prognathia, Hypertrophic cardiomyopathy OMIM:617183
Warburg Micro Syndrome 1
Deeply set eye, Micrognathia, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:600118
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Broad nasal tip, Short nose, Narrow nasal ridge, Anteverted nares, ... OMIM:137550
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology, Stridor ORPHA:2374
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Deeply set eye, Hypotelorism, Depressed nasal ridge, Malar flattening, Small hand, Anteverted nar... OMIM:618672
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Bulbous nose, Deeply set eye, Broad nasal tip, Depressed nasal bridge, Micrognathia, Anteverted n... ORPHA:480907
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Abnormality of the... ORPHA:1248
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Cough, Decreased DLCO, Foam cells, Restrictive ventilatory defect, Hypoxemia,... ORPHA:747
Hyperphosphatasia With Mental Retardation Syndrome 6
Deeply set eye, Shortening of all distal phalanges of the fingers, Abnormal renal collecting syst... OMIM:616809
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
12Q14 Microdeletion Syndrome
Deeply set eye, Abnormality of the nares, Micrognathia, Abnormality of the spleen, Wide nose, Ren... ORPHA:94063
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye OMIM:301024
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Micrognathia, Proptosis, Short nose, Anteverted nares, Hypertelorism, Wide nasal ... OMIM:618577
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Stormorken Syndrome
Deeply set eye, Hypotelorism, Prominent nose, Anemia, Thrombocytopenia, Epistaxis, Stroke-like ep... OMIM:185070
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Broad nasal tip, Micrognathia, Mesomelia, Proptosis, Short nose, Anteverte... OMIM:618529
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... OMIM:613496
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Deeply set eye, Micrognathia, Short nose, 3-Methylglutaconic aciduria, Delayed puberty, Mandibula... ORPHA:496790
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Deeply set eye, Bicuspid aortic valve, Pulmonic stenosis, Depressed nasal bridge, C... ORPHA:284169
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Acrofacial Dysostosis Syndrome Of Rodriguez
Deeply set eye, Micrognathia, Short tibia, 11 pairs of ribs, Prominent nose, Hypertelorism, Fibul... OMIM:201170
Al-Raqad Syndrome
Short nose, Deeply set eye OMIM:616459
Holoprosencephaly 3
Hypotelorism, Malar flattening, Depressed nasal bridge, Abnormality of the nose, Proptosis, Cyclo... OMIM:142945
Pierpont Syndrome
Short toe, Deeply set eye, Cryptorchidism, Malar flattening, Hypertelorism, Wide nasal ridge, Sho... ORPHA:487825
Microphthalmia, Syndromic 12
Retrognathia, Broad nasal tip, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, ... OMIM:615524
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Renal agenesis, Hypoplasia of the ulna, Renal hypoplasia,... OMIM:212780
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Aplasia of the proxima... ORPHA:2256
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... OMIM:610913
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Micrognathia, Abnormality of the upper urinary tract, Abnor... ORPHA:2145
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopa... ORPHA:3033
Chromosome 2Q37 Deletion Syndrome
Short toe, Deeply set eye, Malar flattening, Broad nasal tip, Depressed nasal bridge, Wide nose, ... OMIM:600430
17P13.3 Microduplication Syndrome
Wide nose, Hypertelorism, Short nose, Hypoplasia of penis ORPHA:217385
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Depressed nasal ridge, Micrognathia, Hydronephrosis, Renal atrophy OMIM:618578
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Severe hearing impairment, Pulmonic stenosis, Congen... ORPHA:96170
Frank-Ter Haar Syndrome
Deeply set eye, Depressed nasal bridge, Delayed eruption of teeth, Mitral valve prolapse, Mandibu... ORPHA:137834
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Anteverted nares, Depressed nasal bridge, Bulbous nose, Deeply set eye OMIM:617268
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Narrow pelvis bone, Short thorax, Missing ribs ORPHA:66637
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Deeply set eye, Prominent nasal bridge, Broad columella ORPHA:457365
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Tetralogy of Fallot, Short nose, Ventricular hypertrophy, Hypertelorism OMIM:300887
Freeman-Sheldon Syndrome
Deeply set eye, Cryptorchidism, Depressed nasal ridge, Hypertelorism, Underdeveloped nasal alae, ... ORPHA:2053
Cat-Eye Syndrome
Hypertelorism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Dyspnea, Neonatal deat... OMIM:610921
Odontochondrodysplasia
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Square pelvis bone, Patent ductus arte... ORPHA:166272
Congenital Diaphragmatic Hernia
Hypoxemia, Prominent sternum, Respiratory distress ORPHA:2140
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Deeply set eye, Decreased serum testosterone concentration, Cleft ala nasi, Elevated circulating ... ORPHA:3044
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Webb-Dattani Syndrome
Deeply set eye, Decreased response to growth hormone stimulation test, Retrognathia, Hydronephros... OMIM:615926
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Hypertelorism, Short nose OMIM:613443
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Hypertelorism, Short nose ORPHA:438178
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Convex nasal ridge, Micropenis, Micrognathia, Large beaked nose OMIM:610756
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory def... ORPHA:98913
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Deeply set eye, Atrial septal defect, Pulmonic stenos... OMIM:619149
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Deeply set eye OMIM:618859
Teebi Hypertelorism Syndrome 2
Broad nasal tip, Depressed nasal bridge, Hypospadias, Delayed eruption of teeth, Proptosis, Short... OMIM:619736
Toluene Embryopathy
Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Abnormal localization of kidney, Hydr... ORPHA:1920
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Depressed nasal bridge, Short nose, Hypertelorism OMIM:616910
Pentasomy X
Abnormal cardiac septum morphology, Small hand, Micrognathia, Patent ductus arteriosus, Short foo... ORPHA:11
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Micrognathia, Short nose, Delayed puberty ORPHA:2598
Rhyns Syndrome
Chronic kidney disease, Deeply set eye, Decreased response to growth hormone stimulation test, Ne... OMIM:602152
Congenital Heart Defects And Skeletal Malformations Syndrome
Deeply set eye, Atrial septal defect, Cryptorchidism, Long nose, Hypospadias, Narrow nose, Coarct... OMIM:617602
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Micrognathia, Ureteral duplication, Tetralogy of Fallot, Ve... ORPHA:1926
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Increased mean platelet volume, Patent ductus arteriosus, Hydrone... OMIM:300048
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Deeply set eye, Persistence of primary teeth, Retrognathia, Micrognathia, Anteverted nares, Wide ... OMIM:618342
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension OMIM:234810
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Deeply set eye, Prominent nasal bridge OMIM:300558
Pulmonary Capillary Hemangiomatosis
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Exert... ORPHA:199241
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing OMIM:618188
Inverted Duplicated Chromosome 15 Syndrome
Deeply set eye, Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Tetralogy of Fall... ORPHA:3306
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones, Cyanosis OMIM:619793
Smith-Magenis Syndrome
Deeply set eye, Abnormality of the thyroid gland, Malar flattening, Abnormality of the urinary sy... OMIM:182290
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Proptosis, Short nose ORPHA:2370
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Micrognathia, Deeply set eye OMIM:618381
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Bardet-Biedl Syndrome 16
Respiratory distress, Hearing impairment, Recurrent otitis media OMIM:615993
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Deeply set eye, Hypotelorism, Long nasal bridge OMIM:162100
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Succinic Acidemia
Respiratory distress OMIM:600335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Overfolded helix, Abnormal ... ORPHA:2759
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Chronic otitis media, Bronchiectasis OMIM:619466
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Hypertelorism, Deeply set eye, Short nose OMIM:618087
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Malar flattening ORPHA:85280
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Cyanosis, Cough, Pulmonary a... ORPHA:2038
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short... OMIM:613458
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Micrognathia, Short nose, Hydronephrosis, Cryptorchidism, Prominent nasal br... ORPHA:2083
Chung-Jansen Syndrome
Cryptorchidism, Micrognathia, Short nose, Anteverted nares, Hypertelorism OMIM:617991
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Deeply set eye, Convex nasal ridge, Cryptorchidism, Decreased response to growth hormone stimulat... OMIM:241410
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Renal cyst, Hydronephrosis, Stage 5 chronic kidney diseas... OMIM:613390
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Flared elbow metaphyses, Short long bone ORPHA:1423
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hypertelorism, Short nose, Macroorchidism OMIM:300143
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hypertelorism, Delayed eruption of teeth, Patent ductus arteriosus, Hydronephrosis, Cryptorchidism OMIM:619797
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Situs inversus totalis, Dextrocardia, Ciliary dysk... OMIM:606763
Acrodysostosis 2 With Or Without Hormone Resistance
Malar flattening, Depressed nasal bridge, Hypospadias, Congenital hypothyroidism, Short nose, Dia... OMIM:614613
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Wide nose... OMIM:300209
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Atrial septal defect, Short ribs, Ventricular ... ORPHA:2519
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... OMIM:617992
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... OMIM:306955
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Deeply set eye, Depressed nasal bridge, Short nose, Vesicoureteral reflux, Prominen... OMIM:618828
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia OMIM:614744
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose, Deeply set eye ORPHA:228384
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... ORPHA:99125
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... ORPHA:439
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Short ribs, Short femur, Micrognathia, Micropenis, Hypospadias, Vent... OMIM:616897
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality of the k... ORPHA:391372
Tarp Syndrome
Short sternum, Hypoplasia of the radius, Micrognathia, Tetralogy of Fallot, Horseshoe kidney, Hyd... OMIM:311900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Deeply set eye OMIM:618512
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Short nose, Renal cyst, Ren... OMIM:615583
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Deeply set eye, Hypotelorism, Malar flattening, Micrognathia, Short humerus, Hypoplastic scapulae... OMIM:602471
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Deeply set eye, Malar flattening, Micropenis, Depressed nasal bridge, Horseshoe kidney, Short foo... OMIM:300860
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Polydactyly, Chro... ORPHA:137914
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Deeply set eye, Micrognathia, Horseshoe kidney, Cryptorchidism, Prominent nasal bridge ORPHA:502434
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Respiratory distress, Cardiomyopathy ORPHA:26792
Baller-Gerold Syndrome
Abnormal cardiac septum morphology, Hypotelorism, Aplasia/Hypoplasia of the thumb, Hand oligodact... ORPHA:1225
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Deeply set eye, Asplenia ORPHA:3204
Deafness-Craniofacial Syndrome
Deeply set eye, Patent ductus arteriosus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:3241
Satb2-Associated Syndrome Due To A Pathogenic Variant
Abnormality of globe location, Deeply set eye, Short foot, Micrognathia ORPHA:576283
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye OMIM:300699
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Smith-Magenis Syndrome
Deeply set eye, Taurodontia, Precocious puberty, Renal hypoplasia/aplasia, Depressed nasal bridge... ORPHA:819
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Prominent nasal bridge OMIM:611523
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Conductive hearing impairment, Protruding ear, Clinodactyly ... OMIM:602249
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Ventricular septal defect, Broad ... ORPHA:508498
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology OMIM:184800
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Precocious puberty, Atrial septal defect, Short distal phalanx of... OMIM:619356
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary tract infections, Erythroid hyp... OMIM:612541
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasi... OMIM:214110
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Hypoplasia of penis, Abnormality of the nares, Hypogonadotropic h... ORPHA:1295
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Trisomy 12P
Supernumerary nipple, Malar flattening, Micrognathia, Abnormality of the urinary system, Proptosi... ORPHA:1699
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Short humerus, Enlarged kidney, Transposition of... OMIM:314390
Acrodysostosis
Short toe, Cryptorchidism, Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridg... ORPHA:950
Breath-Holding Spells
Cyanosis OMIM:607578
Sulfite Oxidase Deficiency, Isolated
Deeply set eye, Delayed eruption of teeth, Decreased urinary sulfate, Increased urinary sulfite, ... OMIM:272300
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Hypertelorism, Hypotelorism, Short nose OMIM:613544
Acute Interstitial Pneumonia
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... ORPHA:79126
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Retrognathia, Micrognathia, Abnormality of dental... ORPHA:96092
Joubert Syndrome 14
Deeply set eye, Malar flattening, Renal cyst, Hypertelorism, Prominent nasal bridge OMIM:614424
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Hydroureter, Hydronephrosis, Diabetes me... OMIM:598500
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Deeply set eye, Atrial sept... ORPHA:52
Trisomy 1Q
Hypotelorism, Microretrognathia, Cryptorchidism, Congenital megaureter, Depressed nasal bridge, M... ORPHA:261344
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Hypogonadism, Short nasal sep... OMIM:302950
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Genitopatellar Syndrome
Atrial septal defect, Cryptorchidism, Micrognathia, Multicystic kidney dysplasia, Delayed eruptio... ORPHA:85201
Bangstad Syndrome
Hyperinsulinemia, Deeply set eye, Convex nasal ridge, Increased circulating cortisol level, Abnor... ORPHA:1227
Lethal Congenital Contracture Syndrome 10
Micrognathia, Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Basilicata-Akhtar Syndrome
Deeply set eye, Precocious puberty, Retrognathia, Short foot, Choanal stenosis, Anteverted nares,... OMIM:301032
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Hypoxemia, Vertigo, Dyspnea ORPHA:464453
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Right ventricular hypertrophy, Ventricular ... OMIM:614261
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Paganini-Miozzo Syndrome
Mandibular prognathia, Deeply set eye, Urinary incontinence OMIM:301025
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, A... ORPHA:477817
Distal Trisomy 18Q
Hypoplasia of penis, Micrognathia, Carious teeth, Short nose, Choanal atresia, Anteverted nares, ... ORPHA:1716
Stromme Syndrome
Deeply set eye, Micrognathia, Bilateral renal hypoplasia, Accessory spleen, Hydronephrosis, Short... OMIM:243605
Stickler Syndrome Type 1
Mitral valve prolapse, Proptosis, Short nose, Hypoplasia of the maxilla ORPHA:90653
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Coronal hypospadias, Bilateral choanal atresia, Short nose, Choanal atres... OMIM:619859
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, P... OMIM:614886
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Renal hypoplasia/aplasia, Deeply set eye ORPHA:2570
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Malar flattening, Hypoplasia of penis, Micrognathi... ORPHA:261290
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Deeply set eye, Hypotelorism, Micropenis, Long nose, Prominent nose, Mandibular prognathia, Crypt... OMIM:300486
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Malar flattening, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Micrognat... OMIM:235255
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, T lymphocytopenia, Short nose,... OMIM:242860
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Pulmonic stenosis, Carious teeth, Short nose, Anteverted nares, Hypertelorism, Hy... ORPHA:2701
Trisomy 13
Deeply set eye, Hypotelorism, Atrial septal defect, Malar flattening, Abnormality of the ureter, ... ORPHA:3378
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Short humerus, Wide nose, Short nose, Rhizomelia, Mandibular prognathia, S... ORPHA:2831
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Seckel Syndrome 8
Micrognathia, Convex nasal ridge, Ectopic kidney OMIM:615807
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodactyly... OMIM:619910
Acromicric Dysplasia
Bulbous nose, Small hand, Short nose, Anteverted nares, Short palm, Short metacarpal ORPHA:969
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Retrognathia, Micrognathia, Abnormality of the kidney, Ne... ORPHA:314588
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye OMIM:618158
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Short nose, Man... ORPHA:261494
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Atrial septal defect, Crackles, Ch... OMIM:610978
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Cryptorchidism, Deeply set eye, Micropenis OMIM:618504
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Deeply set eye, Hypotelorism, Microretrognathia, Long nose, Short nose, Absent nasa... ORPHA:261211
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Cyanosis, Paroxysmal dyspnea, Strido... ORPHA:444013
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Convex nasal ridge, Hypotelorism, Lymphopenia, Cryptorchidism, Unilateral renal a... OMIM:616541
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism, Thrombocytopenia OMIM:616937
Desanto-Shinawi Syndrome
Bulbous nose, Hypertelorism, Deeply set eye, Depressed nasal bridge OMIM:616708
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Prolidase Deficiency
Splenomegaly, Anemia, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Proptosis, Short no... OMIM:170100
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Hip d... ORPHA:1143
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Rare Circulatory System Disease
Abnormality of finger, Arterial calcification, Abnormal metatarsal morphology, Cyanosis, Abnormal... ORPHA:98028
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Lymphopenia, S... ORPHA:84064
Distal Trisomy 5Q
Cryptorchidism, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypospadias, Carious teeth,... ORPHA:96097
Sanjad-Sakati Syndrome
Hypoparathyroidism, Deeply set eye, Convex nasal ridge, Hypoplasia of penis, Small hand, Depresse... ORPHA:2323
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Micrognathia, Delayed eruption of teeth, Carious teeth, Prominent nose, Cryptorch... OMIM:214150
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Abnormal cardiac septum morphology, Hydronephrosis, Mandibular prognathia, H... ORPHA:3079
Fibrochondrogenesis 2
Malar flattening, Short ribs, Micrognathia, Short nose, Anteverted nares OMIM:614524
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Infantile sensorineural hearing impairment, Respiratory insufficiency, Recu... ORPHA:254875
Pde4D Haploinsufficiency Syndrome
Short toe, Hypotelorism, Prominent nasal tip, Cryptorchidism, Malar flattening, Elevated circulat... ORPHA:439822
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Hypergonadotropic hypogonadism, Broad nasal tip, Depressed nasal br... ORPHA:250999
Odontochondrodysplasia 1
Narrow chest, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Metaphyse... OMIM:184260
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Congenital Disorder Of Glycosylation, Type 2V
Hydrocele testis, Bulbous nose, Deeply set eye, Low hanging columella, Retrognathia, Hyperteloris... OMIM:619493
Waardenburg Syndrome Type 3
Abnormality of finger, Atrial septal defect, Tracheomalacia, Camptodactyly of finger, Synostosis ... ORPHA:896
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, Horseshoe kidney, P... OMIM:235510
Burn-Mckeown Syndrome
Atrial septal defect, Unilateral renal agenesis, Micrognathia, Bilateral choanal atresia, Bilater... OMIM:608572
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Deeply set eye, Prominent nasal bridge, Hypoplasia of the zygomatic bone ORPHA:319171
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Deeply set eye, Hypotelorism, Atrial septal defect, Decreased response to growth ho... OMIM:614114
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Micropenis OMIM:601224
Intellectual Developmental Disorder, Autosomal Dominant 47
Deeply set eye, Supernumerary nipple, Ventricular septal defect, Cryptorchidism, Prominent nasal ... OMIM:617635
Insulin-Like Growth Factor I, Resistance To
Deeply set eye, Atrial septal defect, Retrognathia, Micrognathia, Small hand, Ventricular septal ... OMIM:270450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Intellectual Developmental Disorder, Autosomal Dominant 7
Micrognathia, Bulbous nose, Deeply set eye, Hypotelorism OMIM:614104
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Deeply set eye, Hypoplasia of penis, Hypogonadism ORPHA:2983
Joubert Syndrome 35
Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal f... OMIM:618161
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Deeply set eye, Cryptorchidism, Supernumerary nipple, Hypoplasia of penis, Retrognathia, Depresse... ORPHA:1812
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Luo-Schoch-Yamamoto Syndrome
Deeply set eye, Small hand, Depressed nasal bridge, Wide nose, Short foot, Anteverted nares, Hype... OMIM:619460
Ssr4-Cdg
Deeply set eye, Patent ductus arteriosus, Horseshoe kidney ORPHA:370927
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Abnormality of the urinary system, Tetralogy of Fal... ORPHA:2184
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Vesicoureteral reflux, Hydronephrosis OMIM:618265
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Lower limb undergrowth, Increased ... OMIM:613630
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Depressed nasal bridge, Proptosis, Short nose, Choanal atresia, A... ORPHA:1914
Suleiman-El-Hattab Syndrome
Atrial septal defect, Microretrognathia, Cryptorchidism, Ventricular septal defect, Patent forame... OMIM:618950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Pa... ORPHA:371428
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Retrognathia, Micrognathia, Persistence ... OMIM:612561
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Micrognathia, Short nose, Thick nasal alae, Hypertelorism ORPHA:163961
Microform Holoprosencephaly
Hypotelorism, Hypoplasia of penis, Renal agenesis, Panhypopituitarism, Maternal diabetes, Tetralo... ORPHA:280200
Mosaic Trisomy 8
Deeply set eye, Cryptorchidism, Broad nasal tip, Micrognathia, Wide nose, Patellar aplasia, Decre... ORPHA:96061
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Short nose, Hypotelorism OMIM:615042
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... ORPHA:261330
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Cryptorchidism, Micropenis, Pulmonic stenosis, Retrognathia, Leuko... OMIM:301056
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Depressed nasal bridge, Hepatosplenomegaly, Short nose, Polyc... OMIM:608776
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Miller-Dieker Syndrome
Anteverted nares, Short nose, Nephropathy ORPHA:531
2Q37 Microdeletion Syndrome
Deeply set eye, Short metacarpal, Supernumerary nipple, Small hand, Depressed nasal bridge, Nephr... ORPHA:1001
Radio-Tartaglia Syndrome
Bulbous nose, Deeply set eye, Prominent nasal tip, Precocious puberty, Retrognathia, Depressed na... OMIM:619312
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Short clavicles, Micrognathia... ORPHA:2484
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... ORPHA:2847
Short Syndrome
Short palm, Deeply set eye, Malar flattening, Wide nasal bridge, Abnormal zygomatic bone morpholo... ORPHA:3163
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Atrial septal defect, Micropenis, Ventricular septal defect, Short nose, Patent duc... OMIM:613870
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Depressed nasal bridge, Ureteral triplication, Mitral valve prolapse, Patent ductu... OMIM:104350
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Cya... ORPHA:99104
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Depressed nasal bridge, Hyposp... OMIM:614732
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Pulmonary artery stenosis, Malar flattening, Retrognathia, Micrognathia, Va... OMIM:613177
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Small hand, Depressed nasal bridge, Micrognathia, Ventric... OMIM:145420
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... OMIM:610655
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Bulbous nose, Deeply set eye, Short toe, Micropenis, Broad nasal tip, Acromesomelia, Hypogonadism... ORPHA:3041
Lowry-Maclean Syndrome
Convex nasal ridge, Atrioventricular canal defect, Retrognathia, Micrognathia, Hypospadias, Coarc... ORPHA:2409
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... OMIM:252320
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Micrognathia,... OMIM:115470
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Micrognathia, Abnormality of the ureter, Abnormality of the urinary sys... ORPHA:1834
Christianson Syndrome
Abnormality of the nose, Mandibular prognathia, Deeply set eye ORPHA:85278
Distal Trisomy 6P
Micrognathia, Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis, Prominent nasa... ORPHA:1745
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Deeply set eye, Retrognathia, Micrognathia, Aortic dissection, Vascular dilatation, Narrow nasal ... OMIM:618343
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Atrial septal defect, Decreased response to gr... OMIM:618223
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Small hand, Upper limb undergrowth, Camptodactyly, Optic at... OMIM:608799
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Abnormal heart morphology DECIPHER:52
Zaki Syndrome
Renal agenesis, Micrognathia, Hypoplasia of the phalanges of the toes, Wide nose, Patent ductus a... OMIM:619648
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Micrognathia, Micromelia, Mesomelia, Short nose, Rhizomelia, Anteverted n... ORPHA:93329
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Hypogonadotropic hypogonadism, Pulmona... ORPHA:2326
Tarp Syndrome
Abnormal antihelix morphology, Hypoplasia of proximal radius, Apnea, Pectus excavatum, Short ster... ORPHA:2886
Barth Syndrome
Deeply set eye, Granulocytopenia, Hypochromic microcytic anemia, Endocardial fibroelastosis, Cycl... OMIM:302060
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Finger joint hypermo... ORPHA:363705
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Short toe, Pectus excavatum, Prominent sternum, Clinodactyly of th... OMIM:617877
Ohdo Syndrome
Depressed nasal bridge, Micrognathia, Short nose, Proteinuria, Anteverted nares, Hypoplasia of te... OMIM:249620
Developmental And Epileptic Encephalopathy 75
Proptosis, Short nose, Anteverted nares, Hypertelorism, Cardiomyopathy, Wide nasal bridge OMIM:618437
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Recurrent urinary tract infections, Proptosis, Short 3rd toe, Short 4th toe OMIM:618707
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism, Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thr... OMIM:603585
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Adducted thumb, Patent foramen ovale, Rocker bottom f... ORPHA:89844
Cdkl5-Deficiency Disorder
Deeply set eye ORPHA:505652
Congenital Myasthenic Syndrome
Sensorineural hearing