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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
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Proptosis, Dental malocclusion, Anteverted ... OMIM:616894
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal penis morphology, Proptosis, Retrognathia, Mi... ORPHA:3107

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Adrenal insufficiency, Deeply set eye, Hydronephrosis, Ventricular septal de... ORPHA:251076
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Micrognathia, Deeply set eye, Ventricular septal defect, Hypertelorism, P... ORPHA:261120
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Genitopalatocardiac Syndrome
Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... OMIM:231060
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus, Hypertelorism, Short nose, W... OMIM:125700
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Anteverted nares, Short nose ORPHA:1450
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... ORPHA:1200
Progressive Hemifacial Atrophy
Micrognathia, Abnormal mandible morphology, Deeply set eye ORPHA:1214
Xq27.3Q28 Duplication Syndrome
Small hand, Hypogonadism, Bulbous nose, Decreased testicular size, Cryptorchidism, Deeply set eye... ORPHA:261483
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Prominent nasal bridge, Thrombocytopenia, Deeply set eye OMIM:613606
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Recurrent urinary tract infections... OMIM:613680
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypogonadism, Malar flattening, Deeply set eye, Hypertelorism OMIM:615984
Wilson-Turner Syndrome
Small hand, Broad nasal tip, Malar prominence, Micrognathia, Cryptorchidism, Deeply set eye, Hypo... ORPHA:3459
Perching Syndrome
Respiratory distress, Camptodactyly, Cyanosis OMIM:617055
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Hypotelorism, Deeply set eye, Hypospadias ORPHA:276422
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Deeply set eye, Hypertelorism OMIM:615979
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Tetralogy of Fallot, Malar flattening, Abno... ORPHA:1919
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Depressed nasal bridge, Hypoplastic left heart, Decreased response to grow... OMIM:220210
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Malar flattening, Underdeveloped nasal alae, Deeply set eye OMIM:611867
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Abnormality of cartilage of external ear, ... ORPHA:3426
Non-Distal Duplication 10Q
Depressed nasal bridge, Abnormality of the urinary system, Micrognathia, Cryptorchidism, Convex n... ORPHA:1695
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Proptosis, Retrognathia, Anteverted nares, Micrognathia, Mandibular aplasi... ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Left ventricular noncompaction, Bulbous nose, Anteverted nares, Micrognat... OMIM:617228
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Interrupted aortic arch, Aplasia/Hypoplasia of the... ORPHA:1727
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Dilated cardiomyopathy, Retrognathia, Decreased response to growth hormone stimu... ORPHA:280679
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Abnormal renal morphology, Limb undergrowth, Hypertelo... ORPHA:221054
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Anteverted nares, Micrognathia, Malar flattening, Cr... OMIM:179613
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Malar flattening, Delayed puberty, Short nose ORPHA:217340
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Wide nasal bridge, Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Micrognathia,... ORPHA:2575
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Alazami Syndrome
Wide nasal bridge, Depressed nasal bridge, Malar flattening, Deeply set eye, Retractile testis, W... OMIM:615071
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Perlman Syndrome
Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Anteverted nares, Micrognathia, Hy... ORPHA:2849
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Adams-Oliver Syndrome 6
Foot oligodactyly, Cutis marmorata, Truncus arteriosus, Ventricular septal defect, Brachydactyly,... OMIM:616589
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism... ORPHA:401935
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Micrognathia, Malar flattening, Short h... ORPHA:93328
Image Syndrome
Depressed nasal bridge, Micromelia, Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypopla... ORPHA:85173
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Overlapping toe, Right aortic arch, C... OMIM:617478
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Tachypnea, Single coronary artery... ORPHA:3384
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Short finger OMIM:302000
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nares, Micrognathia, Conotrun... ORPHA:40366
2q37 monosomy
Deeply set eye DECIPHER:44
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis, Cor pulmonale OMIM:263000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Short distal phalanx of finger, Ventricular septal defect OMIM:601355
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Cyanosis, 2-3 toe syndac... ORPHA:3304
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Micrognathia, Anteriorly displaced urethral meatus, Hypertelo... OMIM:266810
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Malar flattening, Hypertelorism, Enuresis, Short nose OMIM:613670
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Wide nasal bridge, Prominent nose, Mandibular prognathia, Deeply set eye ORPHA:137831
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Broad nasal tip, Ventricular septal defect, Deeply set eye, Short hallux OMIM:620393
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Underdeveloped nasal alae, Deeply set eye OMIM:612138
Rhiny
Anteverted nares, Short nose OMIM:180360
Mosaic Variegated Aneuploidy Syndrome 3
Horseshoe kidney, Nephroblastoma, Convex nasal ridge, Deeply set eye OMIM:617598
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose, Deeply set eye ORPHA:2429
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Abnormal heart morphology, Cryptorchidism,... ORPHA:502430
Aortic Arch Interruption
Respiratory distress, Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus art... ORPHA:2299
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4... OMIM:617241
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Orofaciodigital Syndrome Xv
Wide nasal bridge, Anteverted nares, Hydronephrosis, Hypertelorism OMIM:617127
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Elevated circulating luteinizing hormone level, Premature coronary artery atheroscler... OMIM:300845
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Megalencephaly
Wide nasal bridge, Long penis, Deeply set eye, Atrial septal defect, Macroorchidism ORPHA:2477
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Short long b... OMIM:619751
Gand Syndrome
Wide nasal bridge, Broad nasal tip, Hypertelorism, Deeply set eye OMIM:615074
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus, Hypotelorism, Deeply set eye ORPHA:251046
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea ORPHA:141152
Glycogen Storage Disease Iii
Depressed nasal bridge, Ventricular hypertrophy, Broad nasal tip, Cardiomyopathy, Malar flattenin... OMIM:232400
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Small hand, Broad nasal tip, Retrognathia, Hypogonadism, Decreased testic... OMIM:300882
Pierpont Syndrome
Broad nasal tip, Short toe, Short finger, Malar flattening, Cryptorchidism, Deeply set eye, Short... OMIM:602342
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Parachute mitral valve, Tetralogy of Fallot, Prominent... OMIM:618316
Tetraploidy
Aplasia/Hypoplasia of the thymus, Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Convex ... ORPHA:3305
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Deeply set eye, Hypertelorism, Short nose OMIM:617991
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Narrow nasal bridge, Vesicoureteral reflux, Deeply set eye ORPHA:85285
Tetralogy Of Fallot
Proptosis, Tetralogy of Fallot, Abnormal nasal morphology, Cryptorchidism ORPHA:3303
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye OMIM:619058
Chromosome Xq27.3-Q28 Duplication Syndrome
Small hand, Hypogonadism, Bulbous nose, Decreased testicular size, Decreased serum testosterone c... OMIM:300869
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Anteverted nares, Short columella, Micr... ORPHA:171839
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Hypotelorism, Deeply set eye, Hy... OMIM:613604
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Micrognathia, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormali... ORPHA:2547
Stankiewicz-Isidor Syndrome
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Truncus arteriosus, Ventricular sept... OMIM:617516
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Short mandibular rami, Deeply set eye OMIM:141300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Short distal phalanx of finger, Abnormal aortic morphology, Ventricular septa... ORPHA:2516
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Short foot, Short nose OMIM:300577
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Short nose, Deeply set eye ORPHA:833
Criss-Cross Heart
Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal... ORPHA:1461
Diamond-Blackfan Anemia 8
Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Hypertelori... OMIM:612563
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Broad nasal tip, Decreased response to growth hormone stimulation test... OMIM:609757
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Fetal Minoxidil Syndrome
Depressed nasal bridge, Micrognathia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Dental malocclusion, Deeply set eye OMIM:615541
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Depressed nasal bridge, Multicystic kidney dysplasia, Bulbous nose, Promi... OMIM:618829
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Dyspnea, Abnormal thorax morphology ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Hypospadias, Deeply set eye OMIM:300934
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Micrognathia, Hypotelorism, Hydronephrosis, Hypoplasia of the radiu... OMIM:602418
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Renal insufficiency, Partial atrioventric... OMIM:615996
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Deeply set eye, Hypertelorism ORPHA:261304
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of... ORPHA:1248
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ... OMIM:613038
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Abnormality of thyroid physiolog... OMIM:615542
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Retrognathia, Recurrent urinary tr... ORPHA:363444
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Retrognathia, Patellar hypoplasia, Anteverted nares, Ves... ORPHA:464288
X-Linked Intellectual Disability, Cilliers Type
Small hand, Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular siz... ORPHA:163971
Chromosome 20Q11-Q12 Deletion Syndrome
Hypertelorism, Deeply set eye OMIM:614257
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye OMIM:300471
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Hyperteloris... OMIM:137550
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transpositi... ORPHA:1913
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Deeply set eye ORPHA:140976
Horner Syndrome, Congenital
Deeply set eye OMIM:143000
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
Periventricular Nodular Heterotopia 7
Microretrognathia, Proptosis, Anteverted nares, Micrognathia, Cryptorchidism, Deeply set eye, Ven... OMIM:617201
20Q11.2 Microdeletion Syndrome
Hypertelorism, Deeply set eye ORPHA:444051
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, Deeply set eye OMIM:617915
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Holoprosencephaly 3
Depressed nasal bridge, Proptosis, Abnormality of the nose, Proboscis, Short columella, Malar fla... OMIM:142945
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Maternal Phenylketonuria
Wide nasal bridge, Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Anteve... ORPHA:2209
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Proptosis, Anteverted nares, Micrognathia, Cryptorchidism, Hypertelorism, Shor... OMIM:618577
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Small hand, Anteverted nares, Malar flattening, Hypotelorism, Deeply set e... OMIM:618672
Acrocardiofacial Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mi... ORPHA:2008
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri... ORPHA:251071
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Frontalis muscle weakness, Facial palsy OMIM:300580
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Deeply set eye, Mandibular prognathia, Short nose OMIM:617183
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Abnormal renal collecting system morphology, Hyperechogenic kidneys, Ante... OMIM:616809
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Decreased testicular size, Prominent nasal bridge, Cryptorchidism, Dee... ORPHA:85279
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Deeply set eye, H... OMIM:619185
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Proptosis, Anteverted nares, Short ribs, Limb undergrowth, Hypertelorism,... OMIM:618961
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Abnormality of the spleen, Prominent nasal bridge, Micrognath... ORPHA:94063
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short toe, Cryptorchidism, Deeply set eye, Del... OMIM:301900
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Congenital Myopathy 19
Depressed nasal ridge, Micrognathia, Renal atrophy, Cryptorchidism, Hydronephrosis OMIM:618578
Warburg Micro Syndrome 1
Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Deeply set eye OMIM:600118
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Deeply se... ORPHA:496790
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Misalignment of the pulmonary veins, Dyspnea, Clubbing OMIM:265120
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Respira... OMIM:617895
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Micrognathia, Deeply set... ORPHA:480907
High Altitude Pulmonary Edema
Vertigo, Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Ventricular hypertrophy, Abnormal heart morphology, Bulb... ORPHA:284169
Verheij Syndrome
Short 5th finger, Clinodactyly, Truncus arteriosus, Ventricular septal defect, Hip dislocation, O... OMIM:615583
Cerebrooculofacioskeletal Syndrome 2
Prominent nose, Micrognathia, Deeply set eye, Convex nasal ridge, Micropenis OMIM:610756
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Pierpont Syndrome
Short toe, Short finger, Malar flattening, Wide nasal ridge, Deeply set eye, Cryptorchidism, Hype... ORPHA:487825
Freeman-Sheldon Syndrome
Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Deeply set e... ORPHA:2053
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Bulbous nose, Cryptorchid... OMIM:618494
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Trunc... OMIM:615415
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cy... ORPHA:3033
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Prominent nose, Stroke-like episode, Hypotelorism, Deeply set eye... OMIM:185070
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Type I diabetes mellit... ORPHA:3044
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Micromelia, Micrognathia, Malar flattening, Abnormality of the upper ... ORPHA:2145
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Deeply set eye, Hypertelorism, Short nose OMIM:613443
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Hypertelorism, Hyp... OMIM:619736
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Bilateral cryptorchidism, Prominent nasal bridge, Micrognathia, Hypotelorism, Hy... OMIM:613544
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Prominent nasal bridge, Broad columella, Deeply set eye ORPHA:457365
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hypertelorism ORPHA:195
Odontochondrodysplasia
Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Bowing of the long... ORPHA:166272
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Hypertelorism, Short nose, Wide nose ORPHA:217385
Tetrasomy 15Q26
Microretrognathia, Horseshoe kidney, Hydronephrosis, Atrial septal defect, Hypertelorism, Hypopla... OMIM:614846
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Short tibia, Prominent nose, Micrognathia, 11 pairs of ribs, Deeply set eye, F... OMIM:201170
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Patent foramen ovale, Deeply set eye, Bicuspid aortic val... OMIM:619149
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Mitral valve prolapse, Deep... ORPHA:137834
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypop... ORPHA:2257
Intellectual Developmental Disorder, Autosomal Dominant 74
Prominent nose, Hypertelorism, Hypotelorism, Deeply set eye OMIM:620688
Pentasomy X
Wide nasal bridge, Small hand, Micrognathia, Delayed puberty, Abnormal cardiac septum morphology,... ORPHA:11
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Abnormal localiza... ORPHA:1920
Chromosome 2Q37 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Short toe, Anteverted nares, Malar flattening, Deeply se... OMIM:600430
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Aplasia of the proximal phalanges of... ORPHA:2256
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Hypoxemia ORPHA:2140
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Hypertelorism ORPHA:438178
Neuralgic Amyotrophy
Sprengel anomaly, Acrocyanosis, Scapular winging, Syndactyly ORPHA:2901
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe OMIM:140850
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Micrognathia, Delayed puberty, Short nose ORPHA:2598
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Microphthalmia, Syndromic 9
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Single ventricle, ... OMIM:601186
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly OMIM:615993
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Hydronephrosis, Thrombocytopenia, Hypertelorism, Patent ductus ar... OMIM:300048
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Hypogonadism, Tetralogy of Fallot... ORPHA:3306
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Paroxysmal dyspnea, ... ORPHA:229
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Deeply set eye OMIM:618859
Diabetic Embryopathy
Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnormal aortic morphology, Renal hypoplasia/a... ORPHA:1926
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Low-set ears, Hearing impairment, Macrotia, Re... OMIM:609029
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Infant Acute Respiratory Distress Syndrome
Abnormal thorax morphology, Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis... OMIM:620570
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Low-set ears, Hearing impairment, Macrotia, Re... ORPHA:96170
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Abnormal cardiac septum morphology, Short nose ORPHA:2370
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Hydronephrosis, Hypertelorism, Patent ductus arteriosus OMIM:619797
Succinic Acidemia
Respiratory distress OMIM:600335
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Abnormal B cell morphology, Cryptorchidism, Hypertelorism, Hypospadias, S... OMIM:616910
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Le... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Hypertrophic cardiomyopathy, Anteverted nares, Micrognathia, Short ribs, Hydro... OMIM:616897
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones OMIM:619793
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Persistence of primary teeth, De... OMIM:618342
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory distress, Abnormal motor nerve conduction velocity, Pectus e... OMIM:614399
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Prominent nasal bridge, Micrognathia, Cryptorchidism, Hydronephrosis, ... ORPHA:2083
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Mandibular prognathia, Short nose, Hypertelorism OMIM:300143
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Deeply set e... OMIM:618828
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose, Deeply set eye ORPHA:228384
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Hypotelorism, Long nasal bridge, Deeply set eye OMIM:162100
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Abnormal heart morph... ORPHA:391372
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Malar flattening, Deeply set eye ORPHA:85280
Satb2-Associated Syndrome Due To A Pathogenic Variant
Abnormality of globe location, Short foot, Micrognathia, Deeply set eye ORPHA:576283
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Aortic valve stenosis, Hypoplastic left heart, Tetralo... ORPHA:7
Al-Raqad Syndrome
Atrial septal defect, Short nose, Deeply set eye OMIM:616459
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Depressed nasal bridge, Bulbous nose, Anteverted nares, Deeply set eye OMIM:617268
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Cryptorchidism, Ventricular septal defect, Deeply set eye, Micropenis OMIM:618504
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Micrognathia, Cryptorchidism, Deeply set eye, Ventricular septal defect, Hy... OMIM:618454
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Sensorin... OMIM:617992
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of th... OMIM:619657
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Proptosis, Abnormality of the ureter, Narrow na... ORPHA:1225
Prolidase Deficiency
Depressed nasal bridge, Proptosis, Micrognathia, Splenomegaly, Hyperimidodipeptiduria, Anemia, Th... OMIM:170100
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchid... OMIM:613390
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Hypertelorism,... OMIM:122880
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short nose, Deeply set eye OMIM:300558
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Hyperplasia of the maxilla, Prominent nose, Micrognathia, Deeply s... OMIM:620194
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Abnormality of the ureter, Antever... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Horseshoe kidney, Malar flattening, Deeply set eye, Hypertelorism, Microp... OMIM:300860
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Thick nasal alae, Prominent nose, Micrognathia, Ma... ORPHA:261290
Primary Ciliary Dyskinesia
Nasal polyposis, Polysplenia, Nasal congestion, Atrial situs ambiguous, Abnormal heart morphology... ORPHA:244
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Crypt... OMIM:615926
Lethal Recessive Chondrodysplasia
Respiratory distress, Narrow chest, Short long bone, Flared elbow metaphyses ORPHA:1423
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Deeply set eye OMIM:618512
Cutis Laxa, Autosomal Recessive, Type Ic
Wide nasal bridge, Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diver... OMIM:613177
Asbestos Intoxication
Cor pulmonale, Myocardial fibrosis, Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea... ORPHA:2302
Seckel Syndrome 8
Micrognathia, Ectopic kidney, Convex nasal ridge OMIM:615807
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge, Carious teeth, Multiple muscular ventricular septal defects, Micrognathia, Dee... OMIM:620070
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Hypogonadotropic hypog... ORPHA:1295
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye OMIM:300699
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye OMIM:301024
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Congenital hypothyroidism, Malar... OMIM:614613
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Res... OMIM:617102
Auriculocondylar Syndrome 2A
Low-set ears, Cleft at the superior portion of the pinna, Hearing impairment, Respiratory distres... OMIM:614669
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hearing impairment, Overlapping toe, Ventricular septal defect, Bicuspid aortic valv... ORPHA:508498
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Horseshoe kidney, Prominent nasal bridge, Micrognathia, Cryptorchidism, Deeply set eye ORPHA:502434
Basilicata-Akhtar Syndrome
Precocious puberty, Retrognathia, Anteverted nares, Wide nasal ridge, Deeply set eye, Choanal ste... OMIM:301032
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Hypoplastic ilia, Narrow chest, Thoracolumbar kyphosis, Metaphyseal cupping, Radial bo... OMIM:151210
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Cardiomyopathy ORPHA:26792
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short distal phalanx of finger, Anteverted nares, Micrognathia, Atrial septal... OMIM:619356
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the urinary system, Abnormal heart morphology, Abnormality of t... OMIM:182290
Microphthalmia, Syndromic 12
Wide nasal bridge, Hypoplastic left atrium, Broad nasal tip, Retrognathia, Micrognathia, Cryptorc... OMIM:615524
Deafness-Craniofacial Syndrome
Wide nasal bridge, Patent ductus arteriosus, Underdeveloped nasal alae, Deeply set eye ORPHA:3241
Acquired Methemoglobinemia
Respiratory distress, Vertigo, Cyanosis, Dyspnea, Hypoxemia ORPHA:464453
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Deeply set eye ORPHA:3204
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Patent ductus arteriosus, Erythroid... OMIM:612541
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Right ventricular hypertrophy ORPHA:70589
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Small hand, Decreased response to growth hormone stimulation test, Microg... OMIM:241410
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Abnormal heart morphology, Micrognathia, Cryptorchidism, Hypoplasia of the thymus,... OMIM:214110
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Thyroid carcinoma, Penile freckling, Hypertelorism, Hurthle cell thyroid ... ORPHA:210548
Trisomy 12P
Wide nasal bridge, Abnormality of the urinary system, Proptosis, Supernumerary nipple, Micrognath... ORPHA:1699
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Pectus carinatum, Low-set ears, Secundum atrial septal defect, Aortic root aneu... OMIM:619910
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Proptosis, Short toe, Micrognathia, Limb undergrowth, Short foot, Short metaca... OMIM:614078
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia, Foam cells ORPHA:264675
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
8P Inverted Duplication/Deletion Syndrome
Wide nasal bridge, Precocious puberty, Abnormality of the urinary system, Retrognathia, Abnormal ... ORPHA:96092
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Respiratory distress, Overfolded helix, Arachnodactyly, Missing ribs, Abnormal anti... ORPHA:2759
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... OMIM:619859
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale,... ORPHA:477817
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Genitopatellar Syndrome
Multicystic kidney dysplasia, Delayed eruption of teeth, Prominent nose, Prominent nasal bridge, ... ORPHA:85201
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Micromelia, Anterior hypopituitarism, Micrognathia, Short ribs, Micropeni... OMIM:241800
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus... ORPHA:555874
Breath-Holding Spells
Cyanosis OMIM:607578
Desanto-Shinawi Syndrome
Depressed nasal bridge, Bulbous nose, Hypertelorism, Deeply set eye OMIM:616708
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Renal tubular dysfunction, Prominence of the p... OMIM:614886
Trisomy 1Q
Depressed nasal bridge, Multicystic kidney dysplasia, Microretrognathia, Cryptorchidism, Hypotelo... ORPHA:261344
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Natal tooth, Aortic root aneurysm, Antever... OMIM:145420
Intellectual Developmental Disorder, Autosomal Dominant 7
Bulbous nose, Micrognathia, Hypotelorism, Deeply set eye OMIM:614104
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnorma... ORPHA:52
Stromme Syndrome
Wide nasal bridge, Accessory spleen, Bilateral renal hypoplasia, Short columella, Prominent nasal... OMIM:243605
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Hypogonadism, Short nasal septum... OMIM:302950
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Proptosis, Short nose, Mitral valve prolapse ORPHA:90653
Distal Triplication 15Q
Dilatation of the renal pelvis, Retrognathia, Horseshoe kidney, Abnormal heart morphology, Microg... ORPHA:314588
Distal Duplication 18Q
Choanal atresia, Carious teeth, Anteverted nares, Prominent nasal bridge, Micrognathia, Cryptorch... ORPHA:1716
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Disorder Of Glycosylation, Type 2V
Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Deeply set eye, Hyperte... OMIM:619493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Reduced natural killer cell count, Anteverted nares, Micrognathia, Malar ... OMIM:242860
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Hypertelo... ORPHA:261494
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Sulfocysteinuria, Decreased urinary sulfate, Deeply set eye, Increased... OMIM:272300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Respiratory distress, Broad ribs, Ventricul... ORPHA:2519
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Proptosis, Anteverted na... ORPHA:1914
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidism, Pulmonic stenosis, ... ORPHA:2701
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Short humerus, Mandibular prognathia, Short metacarpal, Short ... ORPHA:2831
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Proptosis, Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Crypto... OMIM:235255
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Microretrognathia, Cryptorchidism, Patent foramen ovale, Ventricular septal de... OMIM:618950
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, Thoracic kyphoscoliosis, Facial palsy ORPHA:98913
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Acromicric Dysplasia
Small hand, Bulbous nose, Anteverted nares, Short palm, Short metacarpal, Short nose ORPHA:969
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Hypertelorism, Short nose OMIM:300887
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Broad nasal tip, Dilated cardiomyopathy, Lymphopenia... OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Microphallus, Prominent nose, Cryptorchidism, Hypotelorism, Deeply set eye, Micropenis, Long nose... OMIM:300486
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Short nose, Ventricular septal defect OMIM:618506
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Short nose ORPHA:1514
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Unilateral renal agenesis, Thick nasal alae, Deeply set eye OMIM:619504
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Odontochondrodysplasia 1
Pectus carinatum, Narrow chest, Metaphyseal cupping, Respiratory distress, Irregular epiphyses, C... OMIM:184260
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye OMIM:618158
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Hypertelorism, Short nose, Deeply set eye OMIM:618087
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Tachypnea, Bicuspid... ORPHA:3427
Lethal Congenital Contracture Syndrome 10
Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta... OMIM:617022
9q subtelomeric deletion syndrome
Abnormal heart morphology, Anteverted nares, Short nose DECIPHER:52
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Decreased response to growth hormone stimulation test, ... OMIM:602152
Developmental And Epileptic Encephalopathy 64
Depressed nasal bridge, Broad nasal tip, Anteverted nares, Micrognathia, Deeply set eye, Low inse... OMIM:618004
Trigonocephaly 1
Wide nasal bridge, Long penis, Hypotelorism, Short nose OMIM:190440
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Immunodeficiency 95
Respiratory distress OMIM:619773
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Bulbous nose, Anteverted nares, Hypotelorism, Absent nasal bridge, Deeply set ... ORPHA:261211
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Ventricular septal defect,... ORPHA:99125
Syndromic Diarrhea
Wide nasal bridge, Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morphol... ORPHA:84064
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Micrognathia, Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Abnormal heart morphology, Acetabular dysplasia, Hip contracture, Rocker bo... ORPHA:1143
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Hypospadias, Short nose OMIM:300581
Paganini-Miozzo Syndrome
Urinary incontinence, Mandibular prognathia, Malar flattening, Deeply set eye OMIM:301025
Microform Holoprosencephaly
Choanal atresia, Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, An... ORPHA:280200
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Dental malocclusion, Hydronephrosis, Abnormal cardiac septum morphology, Hyper... ORPHA:3079
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Hydro... OMIM:301056
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pulmonary lymphangie... OMIM:235510
Distal Duplication 5Q
Carious teeth, Absent thumb, Prominent nasal bridge, Micrognathia, Cryptorchidism, Ventricular se... ORPHA:96097
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Foam cells, Clubbing, Dyspnea, Hypoxemia ORPHA:747
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Wide nasal bridge, Broad nasal tip, Platelet anisocytosis, Bulbous nose, Deeply set eye, Thromboc... OMIM:620475
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Prominent nasal bridge, Hypoplasia of the zygomatic bone, Deeply set eye ORPHA:319171
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Burn-Mckeown Syndrome
Choanal atresia, Unilateral renal agenesis, Renal hypoplasia, Bilateral choanal atresia, Underdev... OMIM:608572
Potocki-Shaffer Syndrome
Wide nasal bridge, Micropenis, Underdeveloped nasal alae, Short nose OMIM:601224
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Retrognathia, Short thumb, Persistenc... OMIM:612561
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Sanjad-Sakati Syndrome
Depressed nasal bridge, Small hand, Abnormal dental enamel morphology, Micrognathia, Cryptorchidi... ORPHA:2323
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Narrow nose, Cryptorchidism, Deeply set eye, Ventricular sep... OMIM:617602
Thrombocytopenia 6
Thrombocytopenia, Deeply set eye, Hypotelorism, Spontaneous, recurrent epistaxis OMIM:616937
Joubert Syndrome 35
Renal fibrosis, Depressed nasal bridge, Multicystic kidney dysplasia, Recurrent urinary tract inf... OMIM:618161
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Prominent nose, Prominent nasal bridge, Micrognathia, C... OMIM:214150
Trisomy 13
Abnormality of the ureter, Malar flattening, Hypotelorism, Displacement of the urethral meatus, D... ORPHA:3378
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn... ORPHA:1812
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Carpal osteolysis, Osteolysis involving tarsal bones, Mitral valve prolapse, Ven... ORPHA:371428
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Elevated circulating pa... ORPHA:439822
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Hypotelorism,... ORPHA:250999
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Sandal gap, Abnormal e... ORPHA:261330
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Cdkl5-Deficiency Disorder
Deeply set eye ORPHA:505652
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Long nose, Patent ductus arteriosus, Anom... ORPHA:2184
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Small hand, Broad columella, Underdeveloped... ORPHA:1001
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Bulbou... OMIM:614114
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Cervical ... OMIM:600001
Luo-Schoch-Yamamoto Syndrome
Depressed nasal bridge, Small hand, Anteverted nares, Deeply set eye, Hypertelorism, Short foot, ... OMIM:619460
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Absence of the sacrum, Pulmonary artery atresia, Total anomalous pulmonary veno... OMIM:270100
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Bulbous nose, Renal hypoplasia, Deeply set eye OMIM:620439
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Radio-Tartaglia Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Retrognathia, Bulbous nose, Anteve... OMIM:619312
Miller-Dieker Syndrome
Nephropathy, Anteverted nares, Short nose ORPHA:531
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Hypotelorism, Short nose OMIM:615042
Ssr4-Cdg
Horseshoe kidney, Patent ductus arteriosus, Deeply set eye ORPHA:370927
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Deeply s... OMIM:617635
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Small hand, Hypoplasia of the maxilla, Dental... OMIM:257850
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Absent nipple, Ureteral triplication, Mitral valve pro... OMIM:104350
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Hypoplasia of penis, Short nose, Deeply set eye ORPHA:2983
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Small hand, Proptosis, Horseshoe kidney, Vesicoureteral ... ORPHA:93260
Mosaic Trisomy 8
Broad nasal tip, Decreased testicular size, Anteverted nares, Micrognathia, Vesicoureteral reflux... ORPHA:96061
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Autosomal Recessive Omodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Anteverted nares, Micrognathia, Crypto... ORPHA:93329
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Proptosis, Delayed eruption of teeth, ... ORPHA:2484
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Proptosis, Short 4th toe, Recurrent urinary tract infections, Deeply set eye, Short 3rd toe OMIM:618707
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney... OMIM:115470
Zaki Syndrome
Wide nasal bridge, Renal agenesis, Anteverted nares, Micrognathia, Hypoplasia of the phalanges of... OMIM:619648
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t... ORPHA:293939
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Low hanging columella, Short nose OMIM:617752
Lowry-Maclean Syndrome
Choanal atresia, Hypoplasia of the maxilla, Proptosis, Retrognathia, Bilateral cryptorchidism, At... ORPHA:2409
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Cyanosis, Hypoxemia, Clubbing OMIM:610910
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Prominent nasal bridge, Ventricular septal defect, Atrial septal defect, Micropenis... OMIM:613870
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Insulin-Like Growth Factor I, Resistance To
Wide nasal bridge, Small hand, Retrognathia, Short finger, Micrognathia, Patent foramen ovale, De... OMIM:270450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Abnormal B cell morphology, Broad nasal tip, Decreased response to growth... OMIM:618223
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media OMIM:619466
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Hy... OMIM:614732
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Microgna... ORPHA:1834
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Depressed nasal bridge, Broad nasal tip, Micrognathia, Deeply set eye, Hypertelorism, Hypospadias ORPHA:363686
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Broad nasal tip, Broad columella, Anteverted nares, Deeply set eye, Hypothyroidi... OMIM:617763
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Sensorineural hearing impairment OMIM:616974
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Renal hypoplasia, Recurrent urinary tract infections, Ves... OMIM:616854
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, Abnormal natural killer cell morphology, Deeply set eye, B lymphocytopenia, Mi... OMIM:615966
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Hypertelorism, Shortening of all distal phalanges of the fing... OMIM:615716
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Neonatal death, Tachypnea, Exertional dyspnea, Dyspnea, Hy... OMIM:610921
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Proptosis, Cardiomyopathy, Anteverted nares, Hypertelorism, Short nose OMIM:618437
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Prominent nasal bridge, Micrognathia, Hydron... ORPHA:1745
Short Syndrome
Wide nasal bridge, Abnormal mandible morphology, Abnormal dental enamel morphology, Malar flatten... ORPHA:3163
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:1302
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Thick nasal alae, Micrognathia, Hypertelorism, Short nose ORPHA:163961
Christianson Syndrome
Mandibular prognathia, Abnormality of the nose, Deeply set eye ORPHA:85278
Meckel Syndrome, Type 8
Depressed nasal ridge, Hyperechogenic kidneys, Pericardial effusion, Polycystic kidney dysplasia,... OMIM:613885
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Small hand, Upper limb undergrowth, Respiratory distress, Telangiectasia, Camptoda... OMIM:608799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Short distal phalanx of finger, Anteverted nares, Micrognathia, Vesicoure... OMIM:614080
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Micrognathia, Deeply set eye ORPHA:2570
Cutis Laxa, Autosomal Recessive, Type Iib
Vascular tortuosity, Bulbous nose, Malar flattening, Hypotelorism, Deeply set eye, Narrow nasal r... OMIM:612940
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Hypotelorism, Deeply set eye, Proteinuria, Neutropenia, Thrombocytopenia, Macrothr... OMIM:603585
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Depressed nasal bridge, Dilation of Virchow-Robin spaces, Underdeveloped nasal alae, Anteverted n... OMIM:619720
Tarp Syndrome
Optic atrophy, Prominent antihelix, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radiu... ORPHA:2886
Treacher-Collins Syndrome
Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, ... ORPHA:861
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Hydronephrosis, Dextrocardia, Abnormal card... ORPHA:2315
Pulmonary Capillary Hemangiomatosis
Cyanosis, Exertional dyspnea, Abnormal pulmonary vein morphology, Dyspnea, Pericardial effusion, ... ORPHA:199241
Tarp Syndrome
Wide nasal bridge, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot, Anteverted nares, ... OMIM:311900
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Protei... OMIM:249620
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Short toe, Patellar hypoplasia, Hypogonadism, Bulbous nose, Decreased testicular... ORPHA:3041
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Respiratory distress, Patent foramen ovale, Adducted thumb, Atrial septal defect, R... ORPHA:89844
Carpenter Syndrome 1
Precocious puberty, Depressed nasal bridge, Hypoplasia of the maxilla, Hydroureter, Polysplenia, ... OMIM:201000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Bulbous nose, Anteverted nares, Prominent nasal bridge, Deeply set eye, Fetal pyelectasis OMIM:616900
Fryns Syndrome
Wide nasal bridge, Short distal phalanx of finger, Multicystic kidney dysplasia, Abnormal aortic ... ORPHA:2059
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Thrombocytosis, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect... OMIM:243150
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Micrognathia, Malar flattening, Hypotelorism, Deeply set eye, S... OMIM:602471
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Bilateral cryptorchidism, Prominent nose, Prominent nasal bridge, Antever... OMIM:617796
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Malar flattening, Short ribs, Short nose OMIM:614524
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Bilateral c... ORPHA:2326
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Short nose ORPHA:1495
Baraitser-Winter Syndrome 1
Wide nasal bridge, Aortic valve stenosis, Retrognathia, Anteverted nares, Cryptorchidism, Bicuspi... OMIM:243310
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Donnai-Barrow Syndrome
Depressed nasal bridge, Proptosis, Ventricular septal defect, Proteinuria, Hypertelorism, Short nose ORPHA:2143
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Underdeveloped nasal alae, Aplasia o... OMIM:617666
46,Xy Sex Reversal 4
Depressed nasal ridge, Prominent nose, Anteverted nares, Ureteropelvic junction obstruction, Micr... OMIM:154230
Kniest Dysplasia
Delayed epiphyseal ossification, Dumbbell-shaped femur, Conductive hearing impairment, Flared met... OMIM:156550
Robinow Syndrome
Flared nostrils, Multicystic kidney dysplasia, Micrognathia, Marked delay in eruption of permanen... ORPHA:97360
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Broad nasal tip, Abnormal heart morphology, Micrognathia, Hypertelorism, Bifid ... OMIM:239800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... OMIM:610655
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Broad nasal tip, Proptosis, Retrog... OMIM:615485
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ... OMIM:614261
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Elevated circulating thyroid-stimulating ho... OMIM:613457
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Choanal atresia, Penoscrotal transposition, Delayed eruption of teeth, Short t... OMIM:619148
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Anteverted nares, Hypertelorism, Deeply set eye, Wide nose OMIM:619056
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nasal bridge, Hydroureter, Retrognathia, Depressed nasal tip, Prominent nose, Short columell... ORPHA:2995
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Deep... OMIM:618929
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long penis, Micrognathia, Cryptorchidism, Renal hypoplasia/aplas... ORPHA:1988
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove... ORPHA:2038
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose ORPHA:1389
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Mesomelia, Broad nasal tip, Proptosis, Anteverted nares, Micrognathia, Bicuspi... OMIM:618529
Codas Syndrome
Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology... ORPHA:1458
Mosaic Trisomy 9
Micromelia, Horseshoe kidney, Bulbous nose, Abnormal heart valve morphology, Micrognathia, Endoca... ORPHA:99776
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short hallux, Dysplastic aortic valve, Hypoplastic aortic arch, Patent... ORPHA:508488
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Small hand, Broad nasal tip, Rhizomelia, Hypoplastic sacrum, Mand... OMIM:614813
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Prominent nasal bridge, Deeply set eye OMIM:618480
Laryngomalacia
Respiratory distress OMIM:150280
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Small hand, Rhizomelia, Proptosis, Giant platelets, Anteverted nares, Microgna... OMIM:611209
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Micrognathia, Dilatation of the bladder, Deeply set eye, Ventricu... OMIM:265380
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Micrognathia, Deeply set eye, Abnormality of the kidney, Hypertelorism... ORPHA:177907
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Pectus carinatum, Abnormal cerebral vascular morphology, Premature skin wr... ORPHA:363705
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Micrognathia, Vesicoureteral reflux, Retrognathia OMIM:618265
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hyp... ORPHA:567
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, S... ORPHA:1655
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent nasal bridge, Patent foramen ovale, Hydronephrosis, Hypertelorism, S... OMIM:619179
Kury-Isidor Syndrome
Hydronephrosis, Anteverted nares, Ventricular septal defect, Deeply set eye OMIM:619762
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Absent radius, Hype... OMIM:607323
Alagille Syndrome 1
Deeply set eye, Ventricular septal defect, Atrial septal defect, Hypertelorism, Duplicated collec... OMIM:118450
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Cenani-Lenz Syndrome
Proptosis, Short thumb, Micromelia, Foot oligodactyly, Abnormal dental enamel morphology, Crossed... ORPHA:3258
Pontocerebellar Hypoplasia, Type 6
Prominent nasal bridge, Deeply set eye OMIM:611523
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Short femoral neck, Deeply set eye OMIM:608154
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Deeply set eye ORPHA:521390
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, Camptodactyly of finger, Cutaneous finger syndact... ORPHA:896
Mesomelia-Synostoses Syndrome
Micromelia, Bulbous nose, Micrognathia, Malar flattening, Hydronephrosis, Convex nasal ridge, Sho... ORPHA:2496
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,... OMIM:314390
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Puberty and gonadal disorders, Hypertelorism, Deeply set eye ORPHA:464282
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Shallow orbits, Short nose ORPHA:1129
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Noonan Syndrome 4
Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventric... OMIM:610733
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Broad nasal tip, Microretrognathia, Prominent nasal bridge, Cryptorchidism, Ventricular septal de... ORPHA:457193
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Cryptorchidism, Short nose OMIM:615419
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Atrial septal defect, Deeply set eye OMIM:614526
Achondrogenesis Type 1A
Micromelia, Anteverted nares, Micrognathia, Short palm, Short foot, Short nose ORPHA:93299
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Humeroradial synostosis, Ventricular septal defect, Radioulnar syno... OMIM:134780
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Hearing impairment, Decreased nerve conduction velocity, Ventri... OMIM:616652
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Shortening of all middle phal... OMIM:101600
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Prominent nasal bridge, Ventricular septal defect, Deeply set eye, Atrial septal defect, Convex n... ORPHA:261190
Achondrogenesis
Anteverted nares, Micrognathia, Micromelia, Short nose ORPHA:932
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Malar flattening, Cryptorchidism, Deeply set ... ORPHA:364028
3Q27.3 Microdeletion Syndrome
Slender nose, Mandibular prognathia, Convex nasal ridge, Deeply set eye ORPHA:397695
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m... OMIM:300534
Thakker-Donnai Syndrome
Tetralogy of Fallot, Bulbous nose, Anteverted nares, Ventricular septal defect, Hydronephrosis, T... ORPHA:1780
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ve... ORPHA:444013
Micro Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Hydronephrosis, Delayed pubert... ORPHA:2510
Hydrolethalus
Micromelia, Retrognathia, Micrognathia, Cryptorchidism, Abnormality of the sense of smell, Deeply... ORPHA:2189
Koolen-De Vries Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Abnormal dental ena... ORPHA:96169
Congenital Heart Block
Endocardial fibroelastosis, Cyanosis, Patent foramen ovale, Pericardial effusion, Patent ductus a... ORPHA:60041
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Narrow nose, Dil... OMIM:619329
Phelan-Mcdermid Syndrome
Wide nasal bridge, Dental malocclusion, Bulbous nose, Micrognathia, Vesicoureteral reflux, Malar ... OMIM:606232
Non-Distal Duplication 13Q
Cryptorchidism, Micrognathia, Hypotelorism, Short nose ORPHA:1702
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Alazami Syndrome
Atrial septal defect, Deeply set eye, Malar flattening, Wide nose ORPHA:319671
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Proptosis, Aplasia/Hypoplasia of the thumb, Short hallux, Short palm, Hyp... ORPHA:93258
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Deeply set eye OMIM:614254
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro... OMIM:614105
Recon Progeroid Syndrome
Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Deeply set eye, Prominence o... OMIM:620370
Achondrogenesis Type 1B
Micromelia, Anteverted nares, Micrognathia, Short foot, Short nose ORPHA:93298
Choanal Atresia
Respiratory distress, Cyanosis, Polydactyly ORPHA:137914
Hereditary Sensory And Autonomic Neuropathy Type 5
Malar flattening, Deeply set eye ORPHA:64752
Feingold Syndrome Type 1
Interrupted aortic arch, Nephritis, Short thumb, Horseshoe kidney, Short middle phalanx of finger... ORPHA:391641
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Small hand, Bulbous nose, Prominent n... OMIM:300968
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Intercostal retractions, Abnormal heart morphology, Tetralo... ORPHA:95430
Digeorge Syndrome
Micrognathia, Ovarian cyst, Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, R... OMIM:188400
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Atrial septal defect... OMIM:241310
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Mandibular prognathia, Renal agenesis, HbH hemoglobin, Anteverted nares, ... OMIM:301040
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Truncus arteriosus, Abno... ORPHA:2538
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Underdeveloped nasal alae, Aortic dissection, Micrognathia, Deeply set eye, Narrow ... OMIM:618343
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Shor... ORPHA:950
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Underdeveloped nasal alae, Tetralog... ORPHA:163956
Pterygium Colli, Isolated
Short nose OMIM:177990
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea, Clubbing of fingers ORPHA:2032
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Hydronephrosis, Patent ductus arteriosus, Congenital posterior ureth... OMIM:100100
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia, Hypertelorism, Deeply set eye OMIM:612242
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Stroke-like episode, Hydronephrosis, Hypothyro... OMIM:222300
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Abnormal heart morphology, Bulbous nose, Cryptorchidis... ORPHA:369891
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent nose, Me... ORPHA:363528
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Deeply set eye, Hypothyroidism OMIM:619013
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose OMIM:614744
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Nephrogenic rest, Nephroblastomatosis, Horseshoe k... OMIM:608022
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Hypertelorism, Short nose OMIM:618774
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Prominent nasal bridge, Abnormal heart morphology, Deeply set eye OMIM:610758
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Leukopenia, Micro... OMIM:604173
Malaria
Respiratory distress ORPHA:673
Joubert Syndrome 14
Prominent nasal bridge, Malar flattening, Deeply set eye, Ventricular septal defect, Renal cyst, ... OMIM:614424
Pallister-Hall Syndrome
Natal tooth, Distal shortening of limbs, Cryptorchidism, Ventricular septal defect, Ectopic kidne... OMIM:146510
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Interrupted aortic arch, Bulbous nose, Vesicoureteral reflux, Cryptorchidism, ... ORPHA:250989
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral valve prolap... OMIM:142900
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Micrognathia, Prominent nasal bridge, Malar flattening, Deeply set eye, Hypospadias OMIM:609944
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Overlapping toe, Sensorineural hearing impairment, Bicuspid aortic val... OMIM:612474
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis... OMIM:157900
Short Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal alae, Ins... OMIM:269880
Nizon-Isidor Syndrome
Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge, Deeply set eye, H... OMIM:618872
Ciliary Dyskinesia, Primary, 2
Hearing impairment, Respiratory distress, Situs inversus totalis, Otitis media, Dextrocardia OMIM:606763
Trisomy 9P
Impacted tooth, Hypertelorism, Abnormal nasal morphology, Deeply set eye ORPHA:236
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Proptosis, Cryptorchidism, Hypotelorism, Deeply set eye, Hypertelorism, Microp... OMIM:619435
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Retrognathia, Supernumerary nipple, Bulbous nose, Deep... OMIM:620098
Bor Syndrome
Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Renal insufficiency, Ureterope... ORPHA:107
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Deeply set eye ORPHA:544254
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria... OMIM:190685
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis ORPHA:2004
Tetrasomy 5P
Low-set ears, Respiratory distress, Overlapping toe, Cyanosis, Posteriorly rotated ears, Short ha... ORPHA:3309
Arterial Tortuosity Syndrome
Aortic root aneurysm, Arachnodactyly, Hip dislocation, Macrotia, Hypertrophic cardiomyopathy, Ava... ORPHA:3342
Hypoglossia With Situs Inversus
Respiratory distress, Low-set ears, Situs inversus totalis OMIM:612776
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Deeply set eye, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hyposp... OMIM:619428
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Proptosis, Hydroureter, Natal tooth, Micromelia, Microgn... OMIM:259775
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:613561
Takenouchi-Kosaki Syndrome
Flared nostrils, Wide nasal bridge, Unilateral renal agenesis, Dental malocclusion, Bulbous nose,... OMIM:616737
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Left ventricular hypertrophy, Dyspnea, Cardiomyopathy ORPHA:86812
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Chromosome Xq13 Duplication Syndrome
Autoimmune thrombocytopenia, Mandibular prognathia, Dilation of Virchow-Robin spaces, Deeply set eye OMIM:301069
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Short nose, Deeply set eye OMIM:618430
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Cryptorchidism, Deeply set eye, Atrial septal defe... ORPHA:2044
Trisomy 8P
Cryptorchidism, Dysplastic aortic valve, Hypertelorism, Short nose, Short 1st metacarpal, Annular... ORPHA:264450
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Bicuspid aortic valve, Hy... ORPHA:1596
Atrial Septal Defect, Coronary Sinus Type
Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo... ORPHA:99104
Immunodeficiency 9
Lymphopenia, Amelogenesis imperfecta, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Oculodentodigital Dysplasia
Carious teeth, Broad columella, Underdeveloped nasal alae, Abnormality of the nose, Abnormal dent... ORPHA:2710
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Anteverted nares, Vesicoureteral reflux, Hydronephrosis, Short nose OMIM:613735
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Small hand, Short foot, Hypertelorism, Deeply set eye OMIM:618089
Myopathy And Diabetes Mellitus
Respiratory distress, Sensorineural hearing impairment ORPHA:2596
Eec Syndrome
Choanal atresia, Carious teeth, Abnormal dental enamel morphology, Decreased response to growth h... ORPHA:1896
Frank-Ter Haar Syndrome
Low-set ears, Broad clavicles, Secundum atrial septal defect, Flared metaphysis, Mitral valve pro... OMIM:249420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy, Stroke, Cardiomyopathy ORPHA:79312
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, Anteverted nares, Cryptorchidism, ... OMIM:612530
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Anteverted nares, Vesicoureteral reflux, Renal insuff... ORPHA:96147
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cyclic neutropenia, Endocardial fibroelastos... OMIM:302060
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Hemiatrophy of upper limb, Oligosacchariduria, Anteverted nares, Microgna... ORPHA:163649
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Hearing impairment OMIM:616733
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Microretrognathia, Abnormal heart morphology, Bulbous nose, Hypertelorism, Ren... OMIM:618571
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Ventricular septal defect, Deeply set eye, Coarc... OMIM:600987
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Bulbous nose, Ventricular septal defect,... OMIM:620511
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Micrognathia, Short nose ORPHA:1895
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Malar flattening, Hypotelorism, Deeply set eye OMIM:268850
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Deeply set eye OMIM:619064
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Short thumb, Abnormal heart valve morphology, Ureteral obstruction, Fibul... ORPHA:90652
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Natal tooth, Micromelia, Microphallus, Hyperechogenic kidneys, Depressed nasal... OMIM:612651
Antley-Bixler Syndrome
Choanal atresia, Proptosis, Hypoplasia of the zygomatic bone, Anteverted nares, Abnormal renal mo... ORPHA:83
Pericardial And Diaphragmatic Defect
Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard... ORPHA:2847
Dermotrichic Syndrome
Aminoaciduria, Depressed nasal bridge, Anemia, Short nose ORPHA:99688
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Multicystic kidney dysplasia, Leukemia, Anteverted nares, Micrognathia, M... OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Ventricular ... OMIM:617061
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Nephrocalcinosis, Retrognathia, Limb undergrowth, Hypothyroidism, Atrial septa... OMIM:618005
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Depressed nasal bridge, Short distal phalanx of finger, Proptosis, Dental malocclusion... OMIM:616331
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Hypoplastic pulmonary veins, Micrognathia, Amelia, Ventricular ... OMIM:618021
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deeply set eye ORPHA:1154
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped... OMIM:615866
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Anteverted nares, Microretrognathia, Deeply set eye OMIM:301041
Pelviscapular Dysplasia
Hypoplastic scapulae, Mesomelic leg shortening, Deeply set eye, Hypertelorism, Short femur ORPHA:93333
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Depressed nasal bridge, Short thumb, Bulbous nose, Anteverted nares, Micrognathia, Cryptorchidism... OMIM:620224
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Micrognathia, Hypertelorism, Retrognathia, Deeply set eye OMIM:616875
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... OMIM:115197
20P13 Microdeletion Syndrome
Prominent nasal bridge, Hypertelorism, Deeply set eye ORPHA:313781
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Dental malocclusion, Decreased testicular size, Prominent nasal bridge, Micrognathia,... ORPHA:251028
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Splenomegaly, Atrial septal defect, Hypertelorism, Pericardial effusion, ... OMIM:608776
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Vesicoureteral reflux, ... OMIM:614749
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea, Sensorineural hearing impairment ORPHA:79097
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Micrognathia, Stage 5 chronic k... OMIM:608612
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Prominent nose, Deeply set eye ORPHA:391307
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Cardiomyopathy, Anteverted nares, Micrognathia, Cryptorchidism, Short pal... OMIM:217980
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Reduced circulating growth hormone concentration, Ante... OMIM:616430
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short 5th finger, Small hand, Anteverted nares, Prominent nasal bridge, Micrognathia, Deeply set ... OMIM:618443
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Proptosis, Retrognathia, Micrognathia, Hypertelorism, Hypoplasia of teeth, Sho... OMIM:620250
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Proptosis, Dental malocclusion, Anteverted ... OMIM:616894
Holoprosencephaly
Abnormality of the spleen, Cryptorchidism, Deeply set eye, Ventricular septal defect, Hypertelori... ORPHA:2162
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Short foot, Unilateral ... OMIM:614527
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Aplasia/hypoplasia involving bones of the extremities, Depressed nasal bridge, Hypoplasia of the ... ORPHA:508533
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Proptosis, Hypoplasia of th... ORPHA:560
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Short 5th metacarpal, Anteverted nares, 11 pairs of ribs, Perimembranous ventricular s... OMIM:617877
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Retrognathia, Bilateral cryptorchidism, Decreased response to growth hormone st... ORPHA:485405
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, ... OMIM:601812
Craniofacioskeletal Syndrome
Interrupted aortic arch, Choanal atresia, Small hand, Micrognathia, Absent gallbladder, Cryptorch... OMIM:300712
Acute Interstitial Pneumonia
Cyanosis, Tachypnea, Dyspnea, Pericardial effusion, Hypoxemia ORPHA:79126
Chitayat Syndrome
Respiratory distress, Pectus excavatum, Hallux valgus, Brachydactyly OMIM:617180
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th f... OMIM:614407
Hyperparathyroidism, Transient Neonatal
Thin ribs, Low-set ears, Fractured rib, Narrow chest, Metaphyseal spurs, Respiratory distress, Fe... OMIM:618188
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can... OMIM:610536
Marshall-Smith Syndrome
Choanal atresia, Proptosis, Retrognathia, Anteverted nares, Hypertelorism, Short nose ORPHA:561
Bartsocas-Papas Syndrome
Absent thumb, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia/aplasia, Aplasia/Hypoplas... ORPHA:1234
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short toe, Anteverte... ORPHA:1327
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Proptosis, Malar flattening, Ventricular septal defect, ... OMIM:222448
Zellweger Syndrome
Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Micrognathia, Primary ad... ORPHA:912
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Metaphy... OMIM:260400
Warburg Micro Syndrome 4
Decreased testicular size, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Deeply set e... OMIM:615663
Campomelic Dysplasia
Small abnormally formed scapulae, Depressed nasal bridge, Proptosis, 11 pairs of ribs, Micrognath... ORPHA:140
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory... OMIM:613309
Alg9-Cdg
Micrognathia, Ventricular septal defect, Atrial septal defect, Hypertelorism, Short nose, Abnorma... ORPHA:79328
ERI1-related disease
Depressed nasal bridge, Proptosis, Abnormal heart morphology, Micrognathia, Vesicoureteral reflux... OMIM:608739
Frontofacionasal Dysplasia
Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Dimple on nasal ... ORPHA:1791
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Retrognathia, Aortic dissection, Arterial tortuosity, Dilatation of the cer... OMIM:614816
Aarskog-Scott Syndrome
Wide nasal bridge, Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces... OMIM:305400
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Respiratory distress, Hip contracture, Short ribs, C... ORPHA:1145
Tetrasomy 12P
Anteverted nares, Delayed eruption of teeth, Short nose, Hypertelorism ORPHA:884
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Short middle phalanx of the 2... OMIM:619217
17Q24.2 Microdeletion Syndrome
Wide nasal bridge, Upper limb undergrowth, Micrognathia, Vesicoureteral reflux, Deeply set eye, P... ORPHA:529962
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Short toe, Abnormal heart mor... OMIM:239300
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology, Cryptorchidism, Wide nasal ridge ORPHA:531151
Osteoglophonic Dysplasia
Hypoplastic scapulae, Cryptorchidism, Chordee, Hypertelorism, Short foot, Hypospadias, Short meta... OMIM:166250
Localized Scleroderma
Vasculitis, Abnormal facial skeleton morphology, Dental malocclusion, Proptosis, Abnormality of t... ORPHA:90289
Congenital Myasthenic Syndrome
Low-set ears, Pectus carinatum, Congenital hip dislocation, Cyanosis, Episodic respiratory distre... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Pectus carinatum, Congenital hip dislocation, Cyanosis, Episodic respiratory distre... ORPHA:98914
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Ventricular septal defect, Cholesteatoma, ... OMIM:610978
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Micrognathia, Deeply set eye OMIM:618381
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow internal auditory canal, Low-set, posteriorly rotated ears, Situs in... ORPHA:990
Trisomy 20P
Abnormality of the ureter, Anteverted nares, Micrognathia, Cryptorchidism, Hydronephrosis, Multip... ORPHA:261318
Chromosome 2P16.1-P15 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrogna... OMIM:612513
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Long hallux, Overlapping t... OMIM:618164
Hyperphosphatasia-Intellectual Disability Syndrome
Wide nasal bridge, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Micrognathia, Hydr... ORPHA:247262
15Q Overgrowth Syndrome
Wide nasal bridge, Microretrognathia, Ureterovesical stenosis, Retrognathia, Horseshoe kidney, Mi... ORPHA:314585
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Anteverted nares, Micrognathia, Hypotelorism, Hypothyroidism, Delayed puberty, Hypoplasia of teet... ORPHA:391408
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Penile Agenesis
Depressed nasal bridge, Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilat... ORPHA:49
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Respiratory distress, Arachnodactyly, Pectus excavatum, Rocker bottom... OMIM:271225
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Hypertelorism, Micropenis, Hyp... ORPHA:2282
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Micrognathia, Deeply set eye, Proteinuria, Coarctation of aorta, ... OMIM:617729
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Micr... OMIM:613026
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Left atrial enlargement, Tachypnea, Left... ORPHA:99106
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Pectus carinatum, Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy,... OMIM:619383
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Delayed eruption of teeth, Deeply set eye, Eosinophilia, Vascular dilatation ORPHA:2314
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Micromelia, Anteverted nares, Short ribs, Cardiomegaly, Vascular dilatati... OMIM:613320
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Wide nasal bridge, Depressed nasal bridge, Unilateral renal agenesis, Broad nasal tip, Short dist... ORPHA:221139
Marfanoid-Progeroid-Lipodystrophy Syndrome
Proptosis, Retrognathia, Aortic root aneurysm, Narrow nose, Prominent nasal bridge, Mitral valve ... OMIM:616914
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Agnathia-Otocephaly Complex
Low-set ears, Secundum atrial septal defect, Conductive hearing impairment, Respiratory distress,... OMIM:202650
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,... ORPHA:2473
Chops Syndrome
Proptosis, Horseshoe kidney, Anteverted nares, Vesicoureteral reflux, Cryptorchidism, Splenomegal... OMIM:616368
17Q12 Microduplication Syndrome
Atrial septal defect, Deeply set eye ORPHA:261272
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Severe sensorineural hearing impairment, Infantile sensorineural hearing im... ORPHA:254875
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Cutis marmorata, Ventri... OMIM:613398
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Hydroureter, Short 1st metacarpal, Ureter... OMIM:269150
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Underdeveloped nasal alae, Malar flattening, Cryptorchidism, Deeply set eye, M... OMIM:193700
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Antev... ORPHA:444072
Chime Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Acute ... ORPHA:3474
Hoxha-Aliu Syndrome
Wide nasal bridge, Short distal phalanx of finger, Short fifth metatarsal, Short 4th toe, Foot ol... OMIM:620662
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Hypoplasia of the odontoid process, Underdeveloped nasal alae, Decreased ... OMIM:616007
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Functional abnormality of the bladder, Horseshoe kidney, Abnormal heart morpho... ORPHA:2953
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Tachypnea OMIM:614299
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Small hand, Right ventricular dilatation, Cupped ear, Prominent fingertip pads, San... OMIM:612863
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Short nose, Deeply set eye ORPHA:293948
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Anteverted nares, Ventricular septal defect, Hydronephrosis, Atrial septal defect, ... OMIM:616449
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Type I diabetes mellitus, Sh... OMIM:619269
Blomstrand Lethal Chondrodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Aplastic clavicle, Proptosis, Natal tooth, Distal ... ORPHA:50945
Frontometaphyseal Dysplasia 1
Wide nasal bridge, Cor pulmonale, Hydroureter, Dental malocclusion, Delayed eruption of teeth, Pe... OMIM:305620
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Pericardial effusion ORPHA:411703
Warburg Micro Syndrome 2
Prominent nasal bridge, Cryptorchidism, Deeply set eye, Micropenis, Short nose OMIM:614225
Autosomal Recessive Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Mesomelia, Proptosis, Sh... ORPHA:1507
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Leber Congenital Amaurosis 8
Deeply set eye OMIM:613835
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Choanal atresia, Interrupted aortic arch, Proptosis, Underdeveloped nasal alae,... ORPHA:163979
Borjeson-Forssman-Lehmann Syndrome
Short toe, Hypogonadism, Decreased testicular size, Cryptorchidism, Deeply set eye, Hypoplasia of... ORPHA:127
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Short nose OMIM:611936
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Lymphopenia, Micrognathia, Vesicoureteral reflux, Patent ductus arteriosus afte... OMIM:618460
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Hypoplastic scapulae, Unilateral renal agenesis, Aplasia of the distal ph... OMIM:308050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, Anteverted nares, Vesicoureteral reflux, Deeply set eye OMIM:618797
Hypomandibular Faciocranial Dysostosis
Proptosis, Anteverted nares, Choanal stenosis, Atrial septal defect, Maxillozygomatic hypoplasia,... ORPHA:1790
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Retrognathia, Micrognathia, Splenomegaly, Hydronephrosis, Perimemb... OMIM:608779
Ruvalcaba Syndrome
Small hand, Micromelia, Cryptorchidism, Hematuria, Delayed puberty, Convex nasal ridge, Abnormal ... ORPHA:3121
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Micrognathia, Short palm, Short foot, Short nose ORPHA:163966
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Delayed puberty, Delayed eruption of teeth, Deeply set eye ORPHA:447896
Opitz Gbbb Syndrome
Wide nasal bridge, Abnormality of the urinary system, Natal tooth, Aortic root aneurysm, Abnormal... ORPHA:2745
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Pelizaeus-Merzbacher Disease In Female Carriers
Neurogenic bladder, Hypertelorism, Abnormality of the lower urinary tract, Deeply set eye ORPHA:280229
Floating-Harbor Syndrome
Carious teeth, Cryptorchidism, Deeply set eye, Atrial septal defect, Hypospadias, Short 1st metac... OMIM:136140
C Syndrome
Wide nasal bridge, Micromelia, Anteverted nares, Renal cortical cysts, Micrognathia, Cryptorchidi... OMIM:211750
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Hypertelorism, Deeply set eye ORPHA:370079
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Abnormal renal morphology, Hypertelorism, Short nose ORPHA:59315
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of th... OMIM:300863
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Short nose, Hypertelorism OMIM:218000
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Deeply set eye, Hypertelorism, Short ... ORPHA:357001
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Micrognathia, Deeply set eye, Hypertelorism, Urinary incontinence, Low hanging columella, Retract... OMIM:617193
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Short toe, Prominent nasal bridge,... ORPHA:464311
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia, Clubbing OMIM:610913
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Proptosis, Hypoplasia of the zygomatic bone, Micrognathia, Vesicoureteral reflux,... OMIM:620663
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Micrognathia, Hydronephrosis, Hypoplastic n... ORPHA:2437
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo... OMIM:208530
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Hydroureter, Hypop... OMIM:300707
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Prolonged n... ORPHA:226313
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Proptosis, Retrognathia, Anteverted nares, Cryptorchid... ORPHA:363659
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Achondroplasia
Conductive hearing impairment, Radial bowing, Thoracic hypoplasia, Flared metaphysis, Respiratory... OMIM:100800
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Broad nasal tip, Enuresis, Retrognathia, Dental... ORPHA:96121
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Short nose OMIM:610015
Wiskott-Aldrich Syndrome
Nephropathy, Epistaxis, Abnormal eosinophil morphology, Acute leukemia, Vasculitis, Microcytic an... ORPHA:906
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, 11 pairs of ... ORPHA:50810
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Cryptorchidism, Short proxima... OMIM:616638
Wolcott-Rallison Syndrome
Jaundice, Double outlet right ventricle, Atrial septal defect, Metaphyseal dysplasia ORPHA:1667
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal earlobe morphology, Respiratory distress, Anomalous origin of le... ORPHA:141127
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Short nose ORPHA:79113
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Peripheral pulmonary artery stenosis, Delayed eruption... OMIM:280000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypotelorism, Hypertelorism, Micropenis, ... OMIM:617822
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Micrognathia, Vesicoureteral reflux, Ventricular se... ORPHA:3078
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral steno... OMIM:615398
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Sandal gap, Respiratory distress, Short humerus, Patent foramen ovale, Short ribs, S... OMIM:607143
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Patent foramen ovale, Short nose, Hypertelorism OMIM:615539
Distal Deletion 10Q
Wide nasal bridge, Acute kidney injury, Proptosis, Functional abnormality of the bladder, Horsesh... ORPHA:96148
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Small hand, Hearing impairment, Atresia of the external auditory canal, ... OMIM:224690
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... OMIM:620067
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, ... ORPHA:90324
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Cholelithiasis, Retrognathia, Male urethral meatus stenosis, Anteverted na... ORPHA:464738
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Deeply set eye OMIM:619059
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattening, Hypert... OMIM:601853
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Deeply set eye, Hyperte... ORPHA:466950
Au-Kline Syndrome
Chronic kidney disease, Bifid nasal tip, Dilatation of the renal pelvis, Dental malocclusion, Und... OMIM:616580
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Intercostal retractions, Abno... ORPHA:1329
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Proptosis, Dental malocclusion, Delayed eruption of teet... OMIM:101200
White-Kernohan Syndrome
Depressed nasal bridge, Hydroureter, Retrognathia, Underdeveloped nasal alae, Horseshoe kidney, A... OMIM:619426
Cutis Laxa, Autosomal Recessive, Type Iiib
Underdeveloped nasal alae, Cryptorchidism, Deeply set eye, Narrow nasal ridge, Prominent superfic... OMIM:614438
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Wide nasal bridge, Short toe, Recurrent urinary tract infections, Bulbous nose, Depressed nasal t... OMIM:620494
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Short toe, Short thumb, Tetralogy of Fallot, Bulbous n... OMIM:613458
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Congenital Myopathy 22A, Classic
Wide nasal bridge, Micrognathia, Proptosis, Deeply set eye OMIM:620351
15q26 overgrowth syndrome
Wide nasal bridge, Mandibular prognathia, Renal agenesis, Duplication of renal pelvis, Horseshoe ... DECIPHER:81
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Micrognathia, Cryptorchidism, Deeply set eye, Hypertelorism, ... OMIM:264090
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Proptosis, Dental malocclusion, Hypertrophic cardiomyopathy, Bulbous nose... OMIM:115150
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Arteriovenous malformation, Deeply set eye ORPHA:60040
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Cervical ribs, Fibular aplas... ORPHA:3320
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Breast hypoplasia, Narrow nasal tip, Prominent ... ORPHA:464306
Distal 22Q11.2 Microduplication Syndrome
Depressed nasal ridge, Unilateral renal agenesis, Bulbous nose, Micrognathia, Cryptorchidism, Dee... ORPHA:261337
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Respiratory distress, Abnormal heart morphology, Apnea, Hypoventilation, Polydactyly ORPHA:314655
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Tetralogy of Fallot, Anteverted nares, Hypotelorism, Enamel agenesis, Hypertel... OMIM:614701
Ogden Syndrome
Flared nostrils, Micrognathia, Cryptorchidism, Deeply set eye, Ventricular septal defect, Bicuspi... OMIM:300855
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Ca... OMIM:212140
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, 11 pairs ... ORPHA:488632
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Slender finger, Jaundice OMIM:250940
Bachmann-Bupp Syndrome
Dilation of Virchow-Robin spaces, Hypertelorism, Cryptorchidism, Deeply set eye OMIM:619075
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Malar flattening, Deeply set eye, Long nose, Short nose OMIM:618590
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Choanal atresia, Annular pancreas, Bulbous nose, Anteverted nares, Micrognathia, Vesicoureteral r... OMIM:616975
Giant Cell Arteritis
Epistaxis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Clubbing, Arteriove... OMIM:187300
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Anteverted nares, Micrognathia, Hydronephrosis, Short nose ORPHA:1358
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Micrognathia, Patent foramen ovale, Ventricular septal defect, Double out... OMIM:301043
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Short distal phalan... OMIM:617157
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Horseshoe kidney, Abnormality of the spleen, Cross... ORPHA:3097
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Mandibular prognathia, S... OMIM:614753
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Sensorineural hearing impairment, Hip dysplasia, Finger joint hypermobility... ORPHA:544503
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Bulbous nose, Prominent nasal bridge, P... OMIM:610443
Robinow Syndrome, Autosomal Recessive 1
Small hand, Micrognathia, Cryptorchidism, Hypertelorism, Hypospadias, Mesomelic arm shortening, S... OMIM:268310
Spondyloepiphyseal Dysplasia, Nishimura Type
Small hand, Elevated circulating parathyroid hormone level, Short nose OMIM:618618
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Dilation of Virchow-Robin spaces, Lymphopenia, Penile freckling, Splenome... OMIM:605309
Mucopolysaccharidosis-Plus Syndrome
Pectus carinatum, Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Acetabular dy... OMIM:617303
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Desmosterolosis
Depressed nasal bridge, Renal agenesis, Abnormality of the nose, Retrognathia, Micromelia, Microg... ORPHA:35107
Nipah Virus Disease
Respiratory distress, Vertigo ORPHA:99825
Rubinstein-Taybi Syndrome 1
Micrognathia, Cryptorchidism, Mitral valve prolapse, Deeply set eye, Ventricular septal defect, A... OMIM:180849
Fetal Hydantoin Syndrome
Depressed nasal ridge, Short distal phalanx of finger, Cryptorchidism, Hypertelorism, Short nose ORPHA:1912
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr... ORPHA:3310
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Retrognathia, Bulbous nose, Prominent nose, Short columella, Micrognathia,... OMIM:156200
Fibrochondrogenesis 1
Depressed nasal bridge, Hypoplastic scapulae, Small hand, Proptosis, Rhizomelia, Anteverted nares... OMIM:228520
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplastic cervical vertebrae... ORPHA:79345
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Small hand, Proptosis, Malar flattening, Short hallux, H... ORPHA:93259
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethr... OMIM:619522
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Sensori... ORPHA:254913
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Aortic root aneurysm, Dysplasia of the femoral head, Mitral valve prolapse, Arachno... ORPHA:536467
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Crane-Heise Syndrome
Depressed nasal bridge, Hypoplastic scapulae, Aplastic clavicle, Short distal phalanx of finger, ... ORPHA:1512
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flared nostrils, Wide nasal bridge, Unilateral renal agenesis, Total anomalous pulmonary venous r... ORPHA:487796
Acrofacial Dysostosis, Catania Type
Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Cryptorchidism, S... ORPHA:1786
Teebi-Shaltout Syndrome
Wide nasal bridge, Aortic valve stenosis, Broad nasal tip, Ureteral stenosis, Underdeveloped nasa... OMIM:272950
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Tapered finger, Acrocyanosis, Short finger ORPHA:1867
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Secundum atrial septal defect, Deeply set eye, Enamel hypoplasia, Pulmoni... OMIM:615802
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Narrow chest, Hearing impairment, Respiratory distress, Recurrent otitis media, Femoral bowing, T... OMIM:616482
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Micrognathia, Retrognathia, Deeply set eye ORPHA:480898
Distal Deletion 9P
Wide nasal bridge, Proptosis, Hypertelorism, Hypospadias, Short nose ORPHA:1642
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Abnormal renal collecting system morphology, Hydroureter, Microretrognathia, Unilater... ORPHA:280633
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Short nose OMIM:620292
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Neonatal death OMIM:300219
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Anteverted nares, Micrognathia, Malar flattening, Cryptorchidism, Ventricular sept... OMIM:214100
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Proptosis, Short toe, Tetralogy of Fallot, Prominent nasal bridge, Cryptorchid... ORPHA:1519
Atelosteogenesis, Type I
Depressed nasal bridge, Rhizomelia, Proptosis, Short finger, Vertebral hypoplasia, Fibular aplasi... OMIM:108720
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Diabetes insipidus, Hypertelorism, Underdeveloped nasal alae, Deeply set eye ORPHA:423479
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Hepatosplenomegaly, Splenom... OMIM:608013
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Finger aplasia, Retrognathia, Foot oligodactyly, Fibular... OMIM:206920
Vater/Vacterl Association
Choanal atresia, Renal agenesis, Short thumb, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... OMIM:192350
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Aplasia of the 3rd finger, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Desbuquois Dysplasia 1
Depressed nasal bridge, Microretrognathia, Short 1st metacarpal, Proptosis, Malar flattening, Con... OMIM:251450
Arthrogryposis, Distal, Type 5
Deeply set eye OMIM:108145
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Narrow chest, Cone-shaped epiphysis, Respiratory distress, Atrioventricular canal d... OMIM:617088
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Retrognathia, Bilateral cryptorchidism, Bulbous nose, Deeply se... ORPHA:544488
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Atrial situs inversus, Ven... OMIM:615067
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy OMIM:615597
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mogs-Cdg
Optic atrophy, Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic scolio... ORPHA:79330
Osteogenesis Imperfecta, Type X
Thin ribs, Narrow chest, Thoracic hypoplasia, Respiratory distress, Broad ribs, Genu valgum, Fibu... OMIM:613848
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Cryptorchidism, Deeply set ... ORPHA:268261
Malan Overgrowth Syndrome
Depressed nasal bridge, Deeply set eye ORPHA:420179
Mucopolysaccharidosis, Type Iiid
Depressed nasal bridge, Recurrent upper respiratory tract infections, Heparan sulfate excretion i... OMIM:252940
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Wide nasal bridge, Depressed nasal bridge, Accessory spleen, Microretrognathia, Polysplenia, Sple... OMIM:619418
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Hydronephrosis, Convex nasal ridge, Hypertelorism, S... OMIM:600383
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Patent foramen ovale, Ventricul... ORPHA:26793
Cockayne Syndrome A
Carious teeth, Dental malocclusion, Hypogonadism, Prominent nose, Renal insufficiency, Cryptorchi... OMIM:216400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Facial telangiectasia, Ce... OMIM:600376
Pitt-Hopkins Syndrome
Flared nostrils, Wide nasal bridge, Small hand, Short fifth metatarsal, Supernumerary nipple, Cry... OMIM:610954
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, At... ORPHA:373
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Micrognathia, Natal tooth, Short nose OMIM:617802
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated collecting system... OMIM:604292
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Broad nasal tip, Micrognathia, Ureteropelvic junction obstruc... OMIM:617557
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mandible, Bulbous ... ORPHA:364577
Pettigrew Syndrome
Prominent nose, Mandibular prognathia, Calvarial osteosclerosis, Deeply set eye OMIM:304340
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Anteverted nares, Ventricular septal defect, Bicuspid ... OMIM:618619
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Ureterocele, Cryptorchidism, Absence of Stensen duct, Hypertelorism, Duplicated co... OMIM:129900
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Short distal phalanx of finger, Short 3rd metacarpal, Short 5th metacarpal, Ma... OMIM:311300
Acrocephalopolydactylous Dysplasia
Micromelia, Polysplenia, Pancreatic fibrosis, Short nose, Hypertelorism, Enlarged kidney, Cystic ... OMIM:200995
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Calcification of the aorta, Stippled calcification in carpal bon... ORPHA:60025
Cadds
Micrognathia, Adrenal hypoplasia, Short nose ORPHA:369942
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Varicose veins, Transient neutropenia, Nephroblastoma, Deeply set eye, Mitral valve... OMIM:617107
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal... ORPHA:887
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Pelvis-Shoulder Dysplasia
Micrognathia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia of the clavicles, Hydronep... ORPHA:2839
Say-Barber-Miller Syndrome
Broad nasal tip, Carious teeth, Patellar hypoplasia, Hypogonadism, Prominent nasal bridge, Microg... ORPHA:3132
Houge-Janssens Syndrome 1
Hypertelorism, Deeply set eye OMIM:616355
Congenital Myopathy 17
Renal hypoplasia, Proptosis, Dental malocclusion, Ureteropelvic junction obstruction, Narrow jaw,... OMIM:618975
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Proptosis, Delayed eruption of teeth, Urete... OMIM:309350
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Hematuria, Abnormality of the anter... ORPHA:449395
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Fibular aplasia, Micrognathia, Deeply set eye, Hydronephrosis, ... OMIM:260660
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Anteverted nares, Splenomegaly, Polycys... ORPHA:2969
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Deeply set eye, Hyperte... ORPHA:466943
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Proptosis, Micrognathia, Aplasia/Hypoplasia of the clavicles, Del... ORPHA:90154
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Nasal congestion, Bulbous nose, Renal insufficiency, Hydronephrosis, Card... OMIM:608836
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Malar flattening, Short nose OMIM:616420
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Proptosis, Retrognathia, Micrognathia, Deeply set eye, Short nose OMIM:620369
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Trisomy 18
Choanal atresia, Microretrognathia, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Ab... ORPHA:3380
Robinow Syndrome, Autosomal Dominant 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Mesomelia, Proptosis, Rhizomelia, Delayed ... OMIM:180700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Myofiber disarray, Hypertrophic cardiomyopathy, Irregular respiration OMIM:604377
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Stenosis of the external auditory canal, Sensorineural hearing impairment, ... OMIM:606164
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Rodrigues Blindness
Protruding ear, Nasal flaring, Ectodermal dysplasia OMIM:268320
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter, Micrognathia, Deeply set eye OMIM:620189
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, Dental malocclusion, Hypotelorism, Short nose ORPHA:329178
Meckel Syndrome 14
Low-set ears, Postaxial foot polydactyly, Cyanosis, Bowing of the long bones, Postaxial polydacty... OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Respiratory distress, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Apn... OMIM:261740
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Hypertrophic cardiomyopathy, Abnormal h... ORPHA:1340
Cockayne Syndrome Type 1
Male hypogonadism, Hypoplasia of the primary teeth, Renal insufficiency, Cryptorchidism, Delayed ... ORPHA:90321
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Stroke, Prolonged neonatal jaundice, Jaundice OMIM:274150
Xfe Progeroid Syndrome
Renal insufficiency, Deeply set eye, Proteinuria, Enamel hypoplasia, Convex nasal ridge OMIM:610965
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Large vessel vasculitis, Unilateral renal hypoplasia, Ren... ORPHA:49041
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis, Sudden episodic apnea ORPHA:159
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Neonatal Marfan Syndrome
Wide nasal bridge, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Decreased testicu... ORPHA:284979
Lathosterolosis
Horseshoe kidney, Anteverted nares, Micrognathia, Foam cells with lamellar inclusion bodies, Prom... OMIM:607330
De Barsy Syndrome
Delayed eruption of teeth, Prominent veins on trunk, Cryptorchidism, Deeply set eye, Ventricular ... ORPHA:2962
Orofaciodigital Syndrome Type 1
Wide nasal bridge, Choanal atresia, Multicystic kidney dysplasia, Short toe, Underdeveloped nasal... ORPHA:2750
Esophageal Atresia
Clinodactyly, Hearing impairment, Respiratory distress, Tetralogy of Fallot, Cyanosis, Ventricula... ORPHA:1199
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Patent ductus arteriosus OMIM:620327
Intellectual Developmental Disorder, Autosomal Dominant 73
Wide nasal bridge, Premature adrenarche, Hydroureter, Retrognathia, Underdeveloped nasal alae, Pr... OMIM:620450
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Short nose ORPHA:2031
Auriculocondylar Syndrome
Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o... ORPHA:137888
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Stroke ORPHA:927
2P15P16.1 Microdeletion Syndrome
Wide nasal bridge, Multicystic kidney dysplasia, Retrognathia, Supernumerary nipple, Hypogonadism... ORPHA:261349
Opsismodysplasia
Renal phosphate wasting, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, ... OMIM:258480
Spondyloepiphyseal Dysplasia Congenita
Pectus carinatum, Hearing impairment, Respiratory distress, Delayed pubic bone ossification, Barr... OMIM:183900
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Low-set ears, Hearing impairmen... OMIM:114290
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Depressed nasal bridge, Hypoplastic cervical vertebrae, Hypertelorism ORPHA:35173
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Abnormal heart morphology, Atrioventricular canal d... ORPHA:453499
D-Glyceric Aciduria
Aminoaciduria, Micropenis, Patent ductus arteriosus, Deeply set eye OMIM:220120
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Aortic valve stenosis, Proptosis, Underdeveloped nasal... ORPHA:2729
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Intraven... OMIM:613603
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Purpura, Acrocyanosis, Urticaria ORPHA:343
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Gapo Syndrome
Depressed nasal bridge, Eruption failure, Retinal arteriolar tortuosity, Breast hypoplasia, Antev... OMIM:230740
Jacobsen Syndrome
Wide nasal bridge, Bone marrow hypocellularity, Multicystic kidney dysplasia, Aortic valve stenos... ORPHA:2308
Peho Syndrome
Retrognathia, Short nose OMIM:260565
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Short tibia, Anteverted nares, Micrognathia, Malar flattening, De... OMIM:601559
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Atrial septal defect, Short nose ORPHA:1915
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Abnormal heart morphology, Fetal megacystis OMIM:619362
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Mandibular prognathia, Short nose ORPHA:261144
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... OMIM:186500
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Necrotizing Enterocolitis
Abnormal heart morphology, Apnea, Cyanosis ORPHA:391673
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Exertional dyspnea... ORPHA:99103
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Micrognathia, Short nose, Hypertelorism OMIM:619833
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Narrow chest, Hearing impairment, Cervical ribs, Respira... OMIM:119600
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:36238
Coffin-Siris Syndrome 12
Depressed nasal bridge, Short thumb, Underdeveloped nasal alae, Horseshoe kidney, Bulbous nose, A... OMIM:619325
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Urolithiasis, Renal insufficiency, Cryptorchidism, Hypotelorism, Hyperuri... OMIM:300661
Branchio-Oculo-Facial Syndrome
Wide nasal bridge, Multicystic kidney dysplasia, Broad nasal tip, Renal agenesis, Hydronephrosis ORPHA:1297
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Vesicoureteral refl... ORPHA:2237
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Malar flattening, Carpal bone hypoplasia, Hypertelorism, Short fourth met... OMIM:616723
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Hypotelorism, Ventricular septal defect, Hydronephrosis, Micropenis, Short femur OMIM:617798
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Depressed nasal bridge, Micrognathia, Hypertelorism, Deeply set eye ORPHA:412069
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Narrow nose, Type II diabetes mellitus, Deeply set eye, Chordee, Delayed pu... OMIM:618891
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Proptosis, Short nose ORPHA:1185
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Ventricular... ORPHA:818
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Micrognathia, Aplasia of the thymus, Atrial septal defect, Hypertelor... OMIM:620186
Developmental And Epileptic Encephalopathy 2
Short foot, Anteverted nares, Small hand, Deeply set eye OMIM:300672
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Phocomelia ORPHA:3004
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Generalized abno... ORPHA:367
Doors Syndrome
Wide nasal base, Wide nasal bridge, Increased urine alpha-ketoglutarate concentration, Broad nasa... ORPHA:79500
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect OMIM:243440
Geroderma Osteodysplasticum
Hypoplasia of the maxilla, Malar flattening, Deeply set eye, Hypertelorism, Mandibular prognathia OMIM:231070
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Deeply set eye, Abnormality of the kidney, Short foot,... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Broad nasal tip, Proptosis, Microretrognathia, Bulbous nose, Depressed nasal tip, Anteverted nare... OMIM:300966
Pitt-Hopkins Syndrome
Small hand, Failure of eruption of permanent teeth, Triangular nasal tip, Supernumerary nipple, A... ORPHA:2896
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervi... ORPHA:2255
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Co... OMIM:614921
Fryns Syndrome
Wide nasal bridge, Short distal phalanx of finger, Microretrognathia, Ectopic pancreatic tissue, ... OMIM:229850
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose OMIM:234050
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Sensorineural hearing impair... OMIM:211530
Schinzel-Giedion Syndrome
Abnormality of the ureter, Micrognathia, Streak ovary, Hypertelorism, Hypospadias, Short nose, Br... ORPHA:798
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Micrognathia, Splenomeg... OMIM:617913
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Hydronephrosis, ... OMIM:613001
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Broad nasal tip, Atrial septal defect, Hypertelorism, Shortening of all distal... OMIM:614207
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Maturity-onset dia... ORPHA:96149
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Proptosis, Abnormality of the ureter, Anteverted nares, Epispadias, Sh... ORPHA:3339
Mgat2-Cdg
Prominent antihelix, Abnormal earlobe morphology, Respiratory distress, Abnormal heart morphology... ORPHA:79329
Sepsis In Premature Infants
Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Abnormal heart morphology, Apnea, Cyanosis, Pulmonary arte... ORPHA:268943
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted na... OMIM:608156
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Central hypothyroidism, Underdeveloped nasal alae, Anteverted nares, Prom... OMIM:300912
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depressed nasal ridge, Recurrent urinary tract infections, Anteverted nares, Cryptorchidism, Abno... ORPHA:847
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Clinodactyly, Patent foramen ovale, Transposition of the great arteries, Macrotia OMIM:616789
Noonan Syndrome 3
Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Antevert... OMIM:609942
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye OMIM:278760
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Deeply set eye OMIM:105830
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Bulbous nose, Cryptorchidism, Low hangin... OMIM:615803
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia ORPHA:70588
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Micrognathia, Cryptorchidism, Deeply set eye, Ventricular septal defect, Hypo... OMIM:619503
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Cryptorchidism, Atrial septal defect, Aplasia/hypoplasia of the femur, Hyperteloris... OMIM:609945
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Unilateral renal agenesis, Small hand, Hypoplasia of t... OMIM:617140
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... ORPHA:3299
Intellectual Developmental Disorder, Autosomal Dominant 68
Retrognathia, Bulbous nose, Deeply set eye, Urinary incontinence, Patent ductus arteriosus OMIM:619934
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Tetralogy of Fallot, Absent gallbladder, Hypotelorism, Renal hypoplasia/aplasia, Missin... ORPHA:3186
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Micrognathia, Cryptorchidism, Deeply set eye, Ventricular septal defec... OMIM:616462
Dubowitz Syndrome
Depressed nasal bridge, Small hand, Delayed eruption of teeth, Micrognathia, Acute lymphoblastic ... ORPHA:235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Nijmegen Breakage Syndrome
Choanal atresia, Recurrent urinary tract infections, Malar prominence, Micrognathia, Autoimmune h... OMIM:251260
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Deeply set eye OMIM:614388
Trisomy 10P
Depressed nasal bridge, Abnormality of the nose, Short toe, Retrognathia, Abnormal heart morpholo... ORPHA:171929
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Peters Plus Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Hypertelori... ORPHA:709
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Small hand, Broad nasal tip, Bulbous nose, Micrognathia, Cryptorchidism, ... OMIM:309590
Autosomal Recessive Spastic Paraplegia Type 20
Prominent nose, Hydronephrosis, Hypertelorism, Abnormal nostril morphology, Dysuria ORPHA:101000
Alfadhel Syndrome
Low-set ears, Nasal flaring OMIM:620655
Molybdenum Cofactor Deficiency, Type A
Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Tularemia
Respiratory distress, Otitis media ORPHA:3392
Marshall Syndrome
Depressed nasal bridge, Macrodontia of permanent maxillary central incisor, Anteverted nares, Mic... OMIM:154780
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Small hand, Retrognathia, Narrow nose, Anteverted nares, Hypotelorism, Deeply se... OMIM:301044
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Varicose veins, ... ORPHA:500095
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, Carious teeth, Prominent veins on trunk, Anteverted nares, Malar flattening, Hyp... ORPHA:357074
Kabuki Syndrome
Short 5th finger, Abnormal localization of kidney, Small hand, Precocious puberty, Short columell... ORPHA:2322
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis, Hearing impairment OMIM:619580
Smith-Lemli-Opitz Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypertelorism, Dup... OMIM:270400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Patent foramen oval... OMIM:618653
Episodic Ataxia Type 1
Respiratory distress, Vertigo ORPHA:37612
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Prominent nasal bridge, Micrognathia, Hypertelorism, Short nose OMIM:300749
Monosomy 22Q13.3
Wide nasal bridge, Dental malocclusion, Bulbous nose, Recurrent pyelonephritis, Vesicoureteral re... ORPHA:48652
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid nasal tip, Broad nasal tip, Dental malocclusion, Delayed eruption of... OMIM:300166
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Short nose, Tricuspid stenosis, Sh... OMIM:614185
Arboleda-Tham Syndrome
Bifid nasal tip, Broad nasal tip, Proptosis, Microretrognathia, Secundum atrial septal defect, Re... OMIM:616268
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micrognathia, Cryptorchidism... OMIM:619005
Simpson-Golabi-Behmel Syndrome, Type 1
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypertelor... OMIM:312870
Jacobsen Syndrome
Depressed nasal bridge, Annular pancreas, Anteverted nares, Micrognathia, Cryptorchidism, Ventric... OMIM:147791
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Abnormality of the urinary system, Proptosis, Hydroureter, Retrognathia, Micro... ORPHA:2636
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Small hand, Annular pancreas, Delayed eruption of teeth, Short thumb, Hyp... OMIM:268400
Myhre Syndrome
Aortic valve stenosis, Hypoplasia of the maxilla, Short toe, Short finger, Prominent nasal bridge... OMIM:139210
Eisenmenger Syndrome
Bacterial endocarditis, Respiratory distress, Abnormal heart morphology, Tetralogy of Fallot, Atr... ORPHA:97214
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Preaxial... OMIM:147750
Waardenburg Syndrome Type 1
Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Short nose ORPHA:894
Ververi-Brady Syndrome
Low-set ears, Cupped ear, Transposition of the great arteries, Clinodactyly of the 5th finger, Me... OMIM:617982
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Depressed nasal bridge, Rhizomelia, Bulbous nose, Anteverted nares, Congenital hypothy... OMIM:271510
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Abnormal pinna morphology, Neonatal death OMIM:231680
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Abnormal dental enamel morphology, Narrow nasal b... ORPHA:2092
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Advanced eruption of teeth, Broad columella, Short nose OMIM:617865
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Total anomalous pulmonary venous return, Anteverted nares, ... OMIM:602398
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Delayed eruption of teeth, Abnormal heart morphology, Anteverted nares, Microg... OMIM:247200
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Micrognathia, Malar flattenin... OMIM:258315
Opsismodysplasia
Hypoplastic vertebral bodies, Depressed nasal bridge, Splenomegaly, Short nose ORPHA:2746
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Optic atrophy ORPHA:2707
Lathosterolosis
Horseshoe kidney, Bulbous nose, Anteverted nares, Micrognathia, Abnormal platelet morphology, Thr... ORPHA:46059
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Exertional dyspnea, Scapular winging, Facial palsy, Right ... ORPHA:98915
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Degcags Syndrome
Chronic kidney disease, Hepatosplenomegaly, Micrognathia, Pancytopenia, Cryptorchidism, Ventricul... OMIM:619488
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Prominent nasal bridge, Renal insufficiency, Cryptorchidism, ... OMIM:133540
Meier-Gorlin Syndrome 6
Depressed nasal bridge, Depressed nasal ridge, Microretrognathia, Underdeveloped nasal alae, Decr... OMIM:616835
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Trismus, Hypertelo... OMIM:227330
Al-Gazali Syndrome
Hydronephrosis, Micrognathia OMIM:609465
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Atrial septal defect, Varicose veins OMIM:617300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Eruption failure, Micrognathia, Partial absence of thumb, Complete atr... ORPHA:476126
Duane Retraction Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Deeply set eye, Aplasia/Hypoplasia of the thum... ORPHA:233
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Sensorineura... ORPHA:51608
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Chondrodysplasia-Difference Of Sex Development Syndrome
Micromelia, Short metacarpal, Deeply set eye ORPHA:1422
Granulomatosis With Polyangiitis
Epistaxis, Vasculitis, Proptosis, Abnormality of the nose, Ureteral stenosis, Renal insufficiency... ORPHA:900
Frontometaphyseal Dysplasia
Wide nasal bridge, Short distal phalanx of finger, Short distal phalanx of the thumb, Abnormal he... ORPHA:1826
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Stroke-like episode OMIM:619272
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short distal phalanx of finger, Short nose, Cerebral hemorrhage OMIM:277450
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Retrognathia, Persistence of primary teeth, Distal renal tubular aci... ORPHA:2785
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Pontocerebellar Hypoplasia, Type 2E
Micrognathia, Short nose, Wide nose OMIM:615851
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Proptosis, Short femoral neck, Malar flattening, Patent foramen ovale, Ca... ORPHA:457395
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Depressed nasal bridge, Anteverted nares, Retrognathia ORPHA:254528
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ... ORPHA:740
Bcard Syndrome
Dilatation of the cerebral artery, Anteverted nares, Malar flattening, Shallow orbits, Thrombocyt... OMIM:612394
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Micrognathia, Cryptorchidism, Deeply set eye, Hematuria, Proximal renal tubular ac... ORPHA:534
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Microphthalmia, Lenz Type
Hydroureter, Delayed eruption of teeth, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis,... ORPHA:568
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Ventricular septal defect, Atrial septa... ORPHA:261236
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Progressive hearing impairment OMIM:620166
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Decreased testicular size, Leukocytosis, Deeply set eye, Hypoplasia of the ovar... OMIM:619321
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Male urethral meatus stenosis, Hyperplasia of the maxilla, Type II d... OMIM:613406
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Hypogonadism OMIM:615989
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta... ORPHA:183
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal... ORPHA:363958
Warburg Micro Syndrome 3
Micropenis, Decreased testicular size, Micrognathia, Short nose OMIM:614222
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Unilateral renal agenesis, Hypoplasia of the maxilla, Supernumerary nipple, De... OMIM:213980
Cockayne Syndrome
Carious teeth, Absence of pubertal development, Cryptorchidism, Deeply set eye, Delayed eruption ... ORPHA:191
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shortening, H... OMIM:200600
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Broad nasal tip, Anteverted nares, Short colu... ORPHA:363611
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Micrognathia, Short hallux, Short palm, Talon cusp, Short foot, Short ... ORPHA:363417
Ear-Patella-Short Stature Syndrome
Low-set ears, Aplastic clavicle, Abnormality of the outer ear, Abnormal epiphysis morphology, Sle... ORPHA:2554
Cholera
Acute kidney injury, Deeply set eye, Stroke, Decreased urine output, Abnormality of renal excretion ORPHA:173
Radio-Renal Syndrome
Respiratory distress, Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Dyspnea, ... ORPHA:3015
Tetrasomy 18P
Short nose ORPHA:3307
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency, Ureterocele, Short nose, Hypertelorism OMIM:614863
Holoprosencephaly 14
Proboscis, Anteverted nares, Ventricular septal defect, Double outlet right ventricle, Aortic val... OMIM:619895
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Erdheim-Chester Disease
Proptosis, Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic valve morphology... ORPHA:35687
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Secundum atrial septal defect, Polycythemia, Tetra... ORPHA:870
Cardiogenic Shock
Vertigo, Cyanosis, Orthopnea, Dyspnea, Hypoxemia ORPHA:97292
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Bic... ORPHA:353281
Microcephaly 29, Primary, Autosomal Recessive
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Deeply set eye OMIM:620047
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Choanal atresia, Depressed nasal ridge, Aplasia/Hypoplasia of th... ORPHA:2753
Oculodentodigital Dysplasia
Carious teeth, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Tau... OMIM:164200
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea, Facial palsy ORPHA:31826
Mietens Syndrome
Wide nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose ORPHA:2557
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Carious teeth, Anteverted nares, Micrognathia, Ventricular septal defect,... OMIM:244450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Sensorineural hearing impairmen... OMIM:220110
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Cryptorchidism, Prominence of the premaxilla, Ventricular sep... OMIM:602535
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353277
Fucosidosis
Cardiomegaly, Acrocyanosis, Hearing impairment, Vascular skin abnormality ORPHA:349
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Cyanosis, Sensorineural hearing impairment ORPHA:488627
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Deeply set e... ORPHA:96334
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pectus carinatum, Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Abnormal hear... ORPHA:505248
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Panhypopituitarism, De... OMIM:610828
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Hemiatrophy, Malar flattening, Hydronephrosis, Concave nasal ridge OMIM:302960
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Neoplasm of the adrenal cortex, Anteverted nares, Thyroid carcinoma, ... ORPHA:109
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Wide nasal bridge, Precocious puberty, Broad nasal tip, Broad columella, Retrognathia, Thick nasa... OMIM:619950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Flaring of rib cage OMIM:612852
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Dilatation of the renal pel... ORPHA:95699
Exudative Vitreoretinopathy 2, X-Linked
Deeply set eye OMIM:305390
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Ventri... OMIM:620454
Developmental And Epileptic Encephalopathy 84
Deeply set eye OMIM:618792
Monosomy 22
Retrognathia, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Micropeni... ORPHA:96123
Farber Disease
Short toe, Abnormal sternum morphology, Short finger, Respiratory distress, Cherry red spot of th... ORPHA:333
Phocomelia, Schinzel Type
Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodactyly, Fibular aplasia,... ORPHA:2879
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Dental malocclusion, Underdeveloped nasal alae, Supernumerary... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Wide nasal bridge, Broad nasal tip, Dental malocclusion, Underdeveloped nasal alae, Supernumerary... ORPHA:352665
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Malar flat... OMIM:229400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
3Mc Syndrome 1
Short 5th finger, Supernumerary nipple, Ventricular septal defect, Hydronephrosis, Atrial septal ... OMIM:257920
Charge Syndrome
Cryptorchidism, Hypertelorism, Patent ductus arteriosus, Choanal atresia, Tetralogy of Fallot, Ao... ORPHA:138
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Cholelithiasis, Severe B lymphocytopenia, Retrognathia, Underdeveloped nasal a... ORPHA:83617
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, Impaired growth-hormone response to... OMIM:301068
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Apnea, Hypopnea, Cyanosis OMIM:618426
Schneckenbecken Dysplasia
Hypoplastic scapulae, Malar flattening, Short ribs, Limb undergrowth, Short nose OMIM:269250
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short ribs, Hydronephrosis, Missing ribs, Urethral atresia, Hypertelorism OMIM:271520
3Q29 Microdeletion Syndrome
Horseshoe kidney, Prominent nasal bridge, Subvalvular aortic stenosis, Hypospadias, Patent ductus... ORPHA:65286
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Short tibia, Short femur OMIM:620306
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Bardet-Biedl Syndrome
Chronic kidney disease, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Hypertelor... ORPHA:110
Coffin-Siris Syndrome 1
Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricular septal defect, Atrial septal defec... OMIM:135900
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Autoimmune hemolytic anemia, Ventricular septal defect, Hashimoto thyro... ORPHA:436252
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Respiratory distress, Hypertrophic cardiomyopathy, Apnea, Patent foramen... ORPHA:17
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal penis morphology, Proptosis, Retrognathia, Mi... ORPHA:3107
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia,... OMIM:613717
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Narrow chest, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Long thorax, ... OMIM:617925
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Ureterocele, Urinary retention... ORPHA:79404
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Cryptorchidism, Deeply set eye, Ventricular septal defect, Bicuspid aortic ... OMIM:607872
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Partial atrioventricular canal defect, Cyanosis OMIM:620423
Faundes-Banka Syndrome
Underdeveloped nasal alae, Bulbous nose, Micrognathia, Cryptorchidism, Deeply set eye, Premature ... OMIM:619376
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, Malar flattening, Short nose OMIM:219200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hepatosplenomegaly, Hydronephrosis, Diabetes mellitus ORPHA:541423
Histiocytoid Cardiomyopathy
Optic atrophy, Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea ORPHA:137675
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Breast hypoplasia, Malar flattening, Cryptorchidism, Shallow orbits, Hype... OMIM:601353
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Short columella, Cryptorchidism, Mitral valve prolapse, Hydronephrosis, Tricus... OMIM:601776
Q Fever
Vasculitis, Abnormal vascular morphology, Respiratory distress, Abnormal heart valve morphology, ... ORPHA:781
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Ante... OMIM:272460
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Pulmonic stenosis, Coarctation... ORPHA:3338
Ring Chromosome 7 Syndrome
Wide nasal bridge, Short 5th finger, Small hand, Mandibular prognathia, Narrow naris, Hypogonadis... ORPHA:1449
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde... OMIM:618332
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
Trichorhinophalangeal Syndrome, Type Ii
Wide nasal bridge, Recurrent upper respiratory tract infections, Carious teeth, Hyperplasia of th... OMIM:150230
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Mowat-Wilson Syndrome
Wide nasal bridge, Delayed eruption of teeth, Supernumerary nipple, Abnormal heart morphology, Cr... OMIM:235730
Biotinidase Deficiency
Optic atrophy, Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment,... ORPHA:79241
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Midline defect of the nose, Micrognathia, Complete atri... OMIM:236680
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Abnormal heart morphology, Abnormality of the sphenoid sinus, Hy... ORPHA:363700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Ventricular sept... OMIM:600460
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cyanosis, Sensorineur... OMIM:252010
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad nasal tip, Anteverted nares, Prominent nasal bridge, Vesicoureteral reflux, Cryptorchidism,... OMIM:617330
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Short thumb, Underdeveloped nasal ... OMIM:263650
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Respiratory distress, Hypertrophic cardiomyopathy, Dilatation of ... ORPHA:365
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Retrognathia, Ventricular septal defect, Hypogonadotropic hypogonadism, P... OMIM:301030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Proptosis, Aortic root aneurysm, Hypoplasia of proximal radius, Horseshoe kidney, Dec... ORPHA:444077
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Bulbous nose, Anteverted nares, Deeply set eye, Mesiodens, Wide nose ORPHA:314647
Holoprosencephaly 9
Depressed nasal bridge, Choanal atresia, Broad nasal tip, Hypoplasia of the premaxilla, Hypoplasi... OMIM:610829
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Aplasia/Hyp... ORPHA:319182
Monosomy 9P
Depressed nasal bridge, Choanal atresia, Anteverted nares, Micrognathia, Ureteropelvic junction o... ORPHA:261112
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Thoracic scoliosis, Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Increased circulating prolactin concentration, Prominent scalp veins, Increased seru... ORPHA:3455
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Atrial septal defect, Abnormal autonomic nervous sys... ORPHA:1051
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Micrognathia, Prominent nasal bridge, Hypertelorism, Short foot, Short nose ORPHA:1974
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Deeply set ... OMIM:619534
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Depressed nasal bridge, Proptosis, Abnormality of the temporomandibular jo... ORPHA:536471
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress, Petechiae, Abnormal lymphatic vessel morphology, Purpura ORPHA:2330
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Atrial septal defe... OMIM:619991
Kabuki Syndrome 1
Wide nasal bridge, Short 5th finger, Depressed nasal tip, Crossed fused renal ectopia, Ureteropel... OMIM:147920
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Short 1st metacarpal, Atrioventricular canal ... OMIM:620568
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, 11 pairs of rib... OMIM:258040
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Respiratory distress, Hearing abnormality, Thi... ORPHA:1555
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Respiratory distress, Decreased nerve conductio... OMIM:618733
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Genitopatellar Syndrome
Wide nasal bridge, Multicystic kidney dysplasia, Delayed eruption of teeth, Prominent nose, Promi... OMIM:606170
Acrocallosal Syndrome
Wide nasal bridge, Mandibular prognathia, Microretrognathia, Pulmonary valve defects, Persistence... OMIM:200990
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Malar flattening, Hyperteloris... OMIM:601088
Intellectual Developmental Disorder, Autosomal Dominant 29
Hypertelorism, Deeply set eye, Cryptorchidism, Wide nose OMIM:616078
Pallister-Hall Syndrome
Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal d... ORPHA:672
Mercury Poisoning
Respiratory distress, Dyspnea ORPHA:330021
Adenylosuccinase Deficiency
Elevated urinary succinylaminoimidazole carboxamide riboside level, Anteverted nares, Short nose OMIM:103050
Myasthenia Gravis
Dyspnea, Acrocyanosis, Hearing impairment ORPHA:589
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Renal hypoplasia, Anosmia, Carious teeth, Absent thumb, Short thumb, Abnormal de... ORPHA:2363
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Deeply set eye OMIM:617296
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Kawasaki Disease
Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de... ORPHA:2331
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria ORPHA:100050
Marfan Syndrome
Mitral annular calcification, Aortic root aneurysm, Retrognathia, Aortic dissection, Pulmonary ar... OMIM:154700
Poems Syndrome
Metaphyseal sclerosis, Plethora, Papilledema, Pericardial effusion, Acrocyanosis, Clubbing of fin... ORPHA:2905
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:457279
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Unilateral renal agenesis, Hypoplasia of the maxilla, ... ORPHA:500150
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Enuresis nocturna, Small hand, Broad nasal tip, Carious teeth, Short 4th toe, ... OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Proptosis, Dilatation of the cerebral artery, Bulbous nose, Depressed nasal ti... OMIM:619475
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Prolonged neonatal jaundice, Optic disc pallor OMIM:615512
17Q11 Microdeletion Syndrome
Abnormality of the sphenoid sinus, Deeply set eye, Hypertelorism, Leukemia, Precocious puberty, A... ORPHA:97685
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Abnormality of the urinary system, Ureteral stenosis, Anteverted nares, C... ORPHA:2719
Proboscis Lateralis
Choanal atresia, Unilateral renal agenesis, Abnormality of the maxillary sinus, Proptosis, Duplic... ORPHA:141099
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Rhizomelia, Proptosis, Micromelia, Absent pulmonary artery, Hydronephr... OMIM:610682
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Atresia of the external auditory canal, Respiratory distress, Overlapping toe, Pal... OMIM:123790
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process, Proptosis, Mic... OMIM:271665
Intellectual Developmental Disorder, Autosomal Dominant 54
Delayed eruption of primary teeth, Urinary retention, Neutropenia, Deeply set eye OMIM:617799
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Angioedema, Swelling of proximal interphalangeal joints, Respiratory dist... ORPHA:3260
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Williams Syndrome
Carious teeth, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Po... ORPHA:904
Brain-Lung-Thyroid Syndrome
Respiratory distress, Patent foramen ovale, Ventricular septal defect, Sensorineural hearing impa... ORPHA:209905
Dend Syndrome
Elevated hemoglobin A1c, Anteverted nares, Short nose ORPHA:79134
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventric... ORPHA:308552
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Deeply set eye, Bicuspid aor... ORPHA:2152
Williams-Beuren Syndrome
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Sh... OMIM:194050
Occipital Horn Syndrome
Ureteral obstruction, Carotid artery tortuosity, Short humerus, Hydronephrosis, Bladder diverticu... OMIM:304150
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Sensorineural hearing ... OMIM:164310
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Deeply set eye, Ventricular ... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Deeply set eye, Bicuspid aor... ORPHA:261537
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Flushing ORPHA:2131
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Bulbous nose, Breast hypoplasia, Micrognat... ORPHA:506358
Genitourinary And/Or Brain Malformation Syndrome
Micrognathia, Streak ovary, Cryptorchidism, Aplasia of the nasal bone, Chordee, Urogenital sinus ... OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Deeply set eye OMIM:614643
Fontaine Progeroid Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Absent nipple, Proptosis, Retrognathia, A... OMIM:612289
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Choanal atresia, Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Sma... ORPHA:480880
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Focal Dermal Hypoplasia
Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Short metacarpal, Broad nasal tip, N... OMIM:305600
Cerebrofaciothoracic Dysplasia
Hypertelorism, Short nose, Wide nose ORPHA:1394
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Subdural hemorrhage, Respiratory distress, A... ORPHA:79282
Aymé-Gripp Syndrome
Depressed nasal bridge, Breast hypoplasia, Cryptorchidism, Proteinuria, Shallow orbits, Hypertelo... ORPHA:1272
Peho Syndrome
Anteverted nares, Malar flattening, Short nose ORPHA:2836
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Ecchymosis, Myocarditis ORPHA:36234
Cerebrooculonasal Syndrome
Proboscis, Anteverted nares, Prominent nasal bridge, Malar flattening, Hypertelorism, Short nose OMIM:605627
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Renal hypoplasia, Micromelia, Micrognathia, Cryptorchidism, Short ribs, H... ORPHA:93271
Adnp Syndrome
Low-set ears, Broad thumb, Sandal gap, Broad hallux, Respiratory distress, Polydactyly, 2-3 toe s... ORPHA:404448
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormal pinna morphology ORPHA:438216
Deeah Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorc... OMIM:619004
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Small intesti... ORPHA:100078
Sponastrime Dysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Mandibular prognathia, Precocious puberty, Short f... ORPHA:93357
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy OMIM:251110
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Short thumb, Rudimentary fibula, Micrognathia, Dilatation of the sinus of... OMIM:304120
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Episodic respiratory d... ORPHA:255210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Anomalous origin of left subclavian artery, Retrognathia, Increased circulati... ORPHA:438213
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia,... ORPHA:3404
Vascular Ehlers-Danlos Syndrome
Carious teeth, Cryptorchidism, Mitral valve prolapse, Deeply set eye, Hypertelorism, Hypospadias,... ORPHA:286
Jaberi-Elahi Syndrome
Depressed nasal bridge, Short nose OMIM:617988
Hyperoxaluria, Primary, Type I
Optic atrophy, Cutis marmorata, Optic neuropathy, Peripheral arterial stenosis, Acrocyanosis OMIM:259900
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Micrognathia, Thymus hyperplasia OMIM:619036
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Ecchymosis, Myocarditis ORPHA:319213
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Dilatatio... ORPHA:287
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Deeply set eye OMIM:616393
Knobloch Syndrome 1
Depressed nasal bridge, Bulbous nose, Bifid ureter, Renal duplication, Hydronephrosis, Duplicated... OMIM:267750
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal pattern of respiration, Respiratory distress,... ORPHA:79139
Pachyonychia Congenita
Respiratory distress, Ear pain ORPHA:2309
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Retrognathia, Short nose OMIM:601675
Stickler Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Proptosis, Microretrogn... ORPHA:828
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Cocaine Intoxication
Aortic dissection, Respiratory distress, Ischemic stroke, Subarachnoid hemorrhage, Tachypnea, Cer... ORPHA:90068
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple, Underdeveloped nasal alae, Taur... OMIM:305100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Micrognathia, Short nose OMIM:617527
Coccidioidomycosis
Vasculitis, Hearing impairment, Respiratory distress, Broad ribs, Abnormal long bone morphology, ... ORPHA:228123
Peters-Plus Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Short palm, Hypert... OMIM:261540
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Hearing impairment, Cutis marmorata, Sensorineural hearing impai... OMIM:303600
Listeriosis
Arteritis, Hearing impairment, Respiratory distress, Stroke, Myocarditis, Jaundice, Endocarditis,... ORPHA:533
Acromesomelic Dysplasia 1
Short toe, Short metacarpal, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Broad nasal tip, Malar flattening, Ventricular septal defect, Hydronephrosis, ... OMIM:620330
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morphology, Respiratory di... ORPHA:2556
Nicolaides-Baraitser Syndrome
Wide nasal base, Bulbous nose, Narrow nasal bridge, Anteverted nares, Cryptorchidism, Coarctation... OMIM:601358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Dilatation of the cerebral artery, Pancytopenia, Hypotelorism... OMIM:613658
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress OMIM:616271
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Respiratory distress, Apnea, Genu valgum, Bowing of the long bones, Thic... ORPHA:3206
Aspartylglucosaminuria
Wide nasal bridge, Carious teeth, Aspartylglucosaminuria, Splenomegaly, Hypertelorism, Macroorchi... ORPHA:93
Congenital Disorder Of Deglycosylation 1
Low-set ears, Small hand, Dilation of Virchow-Robin spaces, Respiratory distress, Decreased senso... OMIM:615273
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Abnormal myocardium morphology ORPHA:537
Monosomy 9Q22.3
Delayed eruption of teeth, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Short nose ORPHA:77301
Geleophysic Dysplasia 1
Wide nasal bridge, Aortic valve stenosis, Anteverted nares, Mitral stenosis, Short palm, Short me... OMIM:231050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal irregularity, Metaphyseal cupping, Secundum atrial septal defect, Irregular iliac cre... ORPHA:99646
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I... ORPHA:48435
C Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Micromelia, Horseshoe kidney, Anteverted na... ORPHA:1308
Restrictive Dermopathy
Choanal atresia, Natal tooth, Aplasia/Hypoplasia involving the nose, Temporomandibular joint anky... ORPHA:1662
Cornelia De Lange Syndrome
Depressed nasal bridge, Choanal atresia, Multicystic kidney dysplasia, Short 1st metacarpal, Micr... ORPHA:199
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Short dist... OMIM:259050
Plaa-Associated Neurodevelopmental Disorder
Micrognathia, Short nose ORPHA:521426
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypoventilation, Cyanosis, Hypoventilation, Sensorineural hearing impairment, Brachydacty... ORPHA:293987
Neuroblastoma
Respiratory distress, Horner syndrome ORPHA:635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Cryptococcosis
Respiratory distress, Abnormality of the outer ear, Dyspnea, Abnormal cranial nerve morphology ORPHA:1546
Colchicine Poisoning
Respiratory distress, Myocarditis ORPHA:31824
Aicardi-Goutières Syndrome
Low-set ears, Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cutis marmorata, Calcification of... ORPHA:51
Proteus Syndrome
Carious teeth, Arteriovenous malformation, Venous malformation, Hypertelorism, Thick nasal alae, ... ORPHA:744
Primary Hyperoxaluria
Optic atrophy, Cardiomyopathy, Cutis marmorata, Optic disc pallor, Acrocyanosis ORPHA:416
Carpenter Syndrome 2
Low-set ears, Broad thumb, Cutaneous finger syndactyly, Sensorineural hearing impairment, Atrial ... OMIM:614976
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Low-set ears, Toe syndactyly, Finger synd... OMIM:256520
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Congenital hypothyroidism, Neurogenic bladder, Ureteropelvic junction obstruction OMIM:616973
Thoracoabdominal Syndrome
Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a... OMIM:313850
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Narrow chest, Respiratory distress, Fragile skin, Macrotia OMIM:614748
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Underdeveloped nasal alae, Hypoplasia of the primary teeth, Situs inversu... OMIM:243800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria ORPHA:37042
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Ecchymosis, Dyspnea, Intracranial hemorrhage ORPHA:340
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Isolated Arrhinia
Respiratory distress, Microtia ORPHA:1134
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Vertigo, Decreased nerve cond... ORPHA:285
Norrie Disease
Narrow nasal bridge, Cryptorchidism, Malar flattening, Hypotelorism, Deeply set eye, Venous insuf... ORPHA:649
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice OMIM:617156
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Cardiac rhabdomyoma, Pulmonary lymphangiom... ORPHA:805
Sotos Syndrome
Renal agenesis, Abnormal heart morphology, Delayed eruption of permanent teeth, Renal insufficien... ORPHA:821
Nocardiosis
Respiratory distress, Abnormal heart valve morphology, Dyspnea, Endocarditis, Pericarditis ORPHA:31204
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Atrial septal defect, Short nose ORPHA:522077
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno... ORPHA:64
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Decreased testicular size, 11 pairs of ribs, Hydronephrosis, Microp... OMIM:615287
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Choanal atresia, Hydroureter, Abnormal dental enamel morphology, Cryptorchidism, Hydronephrosis, ... ORPHA:2273
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Supernumerary nipple, Micrognathia, Cryptorchidism, Ventricula... OMIM:601803
Dermatomyositis
Vasculitis, Erythema, Shawl sign, V-sign, Facial erythema, Telangiectasia of the skin, Myocarditi... ORPHA:221
Gitelman Syndrome
Respiratory distress, Vertigo, Tinnitus, Varicose veins, Pericardial effusion ORPHA:358
Craniorachischisis
Bifid sternum ORPHA:63260
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Leptospirosis
Respiratory distress, Jaundice, Papilledema, Pericarditis ORPHA:509
Neuroocular Syndrome 1
Retrognathia, Patent foramen ovale, Deeply set eye OMIM:619539
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Pulmonary arteriovenous malformation, Narrow nasal ridge, Polyuria, Sho... OMIM:606721
Plague
Respiratory distress, Endocarditis, Hearing impairment ORPHA:707
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Generalized abnormality of skin ORPHA:95455
Pmm2-Cdg
Respiratory distress, Hypertrophic cardiomyopathy, Abnormal subcutaneous fat tissue distribution,... 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
Dvl3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dvl3tm2e(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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