Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dishevelled segment polarity protein 3
Synonyms:
b2b2866Clo

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dvl3 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Recurrent otitis media, Rhinorrhea, Dextrocardia, Chronic lung disease, Do... OMIM:618254
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Hypoplasia of the ulna, Respiratory insufficiency,... OMIM:228940
8P23.1 Duplication Syndrome
Hypertelorism, Ventricular septal defect, Deeply set eye, Adrenal insufficiency, Pulmonic stenosi... ORPHA:251076
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Cleft ala nasi, Mandibular prognathia, Deeply set eye, Diabetes m... OMIM:249599
Mental Retardation, Autosomal Recessive 45
Deeply set eye, Wide nasal bridge OMIM:615979
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cyanosis And Hepatic Disease
Clubbing, Cyanosis, Dyspnea OMIM:219400
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of ... OMIM:612474
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Renal cyst, Hypospad... OMIM:231060
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
14Q11.2 Microdeletion Syndrome
Hypertelorism, Short nose, Ventricular septal defect, Deeply set eye, Patent ductus arteriosus, M... ORPHA:261120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Hypertelorism, Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depress... OMIM:614069
Burn-Mckeown Syndrome
Hypertelorism, Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum ... ORPHA:1200
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Progressive Hemifacial Atrophy
Deeply set eye, Micrognathia, Abnormality of the mandible ORPHA:1214
Alazami Syndrome
Deeply set eye, Wide nasal bridge, Malar flattening, Wide nose, Depressed nasal bridge OMIM:615071
Forsythe-Wakeling Syndrome
Thrombocytopenia, Deeply set eye, Prominent nasal bridge, Nephrotic syndrome OMIM:613606
Ring Chromosome 8 Syndrome
Hydronephrosis, Short nose, Anteverted nares, Abnormality of the ureter ORPHA:1450
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Deeply set eye, Small hand, Short foot, Decreased testicular size, ... ORPHA:261483
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Abnormal heart morphology, Trismus, Abnormal tracheobronchial morph... OMIM:218450
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Deeply set eye, Hypospadias, Tetralogy of Fallot, Hypotelorism ORPHA:276422
Cholesterol Pneumonia
Tachypnea, Cyanosis, Pneumonia, Cough OMIM:215030
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Hypertelorism, Short nose, Wide nose OMIM:125700
Combined Oxidative Phosphorylation Deficiency 25
Hypertelorism, Short nose, Vascular dilatation, Wide nasal bridge, Depressed nasal bridge, Anteve... OMIM:616430
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Wilson-Turner Syndrome
Cryptorchidism, Broad nasal tip, Deeply set eye, Small hand, Short foot, Hypogonadotropic hypogon... ORPHA:3459
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Hypertelorism, Ventricular septal defect, Decreased res... OMIM:220210
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Deeply set eye, Malar flattening, Underdeveloped nasal alae OMIM:611867
Neuralgic Amyotrophy
Acrocyanosis, Sprengel anomaly, Scapular winging, Respiratory insufficiency ORPHA:2901
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Ventricular septal defect, Deeply set eye, Recurrent urinary tra... OMIM:613680
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose ORPHA:2015
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Ventricular septal defect, Pulmonic... ORPHA:3426
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Deeply set eye, Retrognathia OMIM:617915
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Abnormal mitral valve morphology, Mandibular progna... ORPHA:1919
Pituitary Hormone Deficiency, Combined, 1
Short nose, Anteverted nares, Hypothyroidism, Deeply set eye, Malar flattening, Depressed nasal b... OMIM:613038
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Proptosis, Depressed nasal ridge, Retrognathia, Micrognathia, Ant... ORPHA:1832
Epidermolysis Bullosa Simplex With Pyloric Atresia
Deeply set eye, Underdeveloped nasal alae OMIM:612138
Image Syndrome
Cryptorchidism, Adrenal hypoplasia, Hydronephrosis, Depressed nasal bridge, Hypospadias, Hypogona... ORPHA:85173
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Hypertelorism, Megaloblastic anemia, Deeply set eye, Abnormal erythrocyte ... ORPHA:2575
Non-Distal Trisomy 10Q
Convex nasal ridge, Cryptorchidism, Hypertelorism, Short nose, Abnormality of the urinary system,... ORPHA:1695
17Q21.31 Microduplication Syndrome
Short nose, Malar flattening, Delayed puberty, Micrognathia, Anteverted nares ORPHA:217340
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Abnormality of the pinna, Low-set ears, Neon... OMIM:618164
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
22Q11.2 Duplication Syndrome
Hypertelorism, Interrupted aortic arch, Ventricular septal defect, Micrognathia, Aplasia/Hypoplas... ORPHA:1727
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Hypertelorism, Patent foramen ovale, Ventricular septal def... OMIM:618316
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, Anteverted nares, Ventricular septal defect,... OMIM:179613
Autosomal Dominant Omodysplasia
Cryptorchidism, Hypertelorism, Short nose, Rhizomelia, Short 1st metacarpal, Short humerus, Hypop... ORPHA:93328
Perlman Syndrome
Cryptorchidism, Short nose, Hyperinsulinemia, Deeply set eye, Wide nasal bridge, Nephroblastoma, ... ORPHA:2849
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Orofaciodigital Syndrome Xv
Hypertelorism, Hydronephrosis, Anteverted nares, Wide nasal bridge OMIM:617127
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal thorax morphology, Respirat... ORPHA:1461
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Pectus excavatum, ... OMIM:614399
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, A... ORPHA:50251
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Short distal phalanx of finger OMIM:601355
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Patent ductus a... OMIM:618845
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... OMIM:155050
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Acrocephalopolydactyly
Abnormal renal morphology, Hypertelorism, Short nose, Limb undergrowth, Depressed nasal ridge, He... ORPHA:221054
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Hypertelorism, Hypergonadotropic hypogonadism, Deeply set eye, Coronary arte... ORPHA:280679
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Cutis marmorata, Br... OMIM:616589
Mental Retardation, Autosomal Dominant 47
Cryptorchidism, Deeply set eye, Prominent nasal bridge OMIM:617635
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Tapered finger OMIM:302000
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, Short nose, Truncus arteriosus, Abnormal hea... ORPHA:401935
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining... ORPHA:185
2q37 monosomy
Deeply set eye DECIPHER:44
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Short nose, Hypertelorism, Renal hypoplasia, Anteriorly displ... OMIM:266810
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Microphallus, Perineal hypospadias, Testicular dysgenesis, Tetralogy of Fallot, M... OMIM:615542
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Misalignment of the pulmonary veins, Neonatal respiratory distress, Neonatal deat... OMIM:265120
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Atrial septal defect, Macrotia, Recurrent otitis media, 2-3 toe syndactyly, ... ORPHA:3304
Asbestos Intoxication
Clubbing of fingers, Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dys... ORPHA:2302
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Galloway-Mowat Syndrome 5
Hypertelorism, Mandibular prognathia, Glomerular sclerosis, Deeply set eye, Stage 5 chronic kidne... OMIM:617731
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Megalencephaly
Atrial septal defect, Long penis, Deeply set eye, Macroorchidism, Wide nasal bridge ORPHA:2477
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplastic nasal septum, Hypoplasia of the thymus, Aplasia/hypopl... ORPHA:40366
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Hypertelorism, Hypergonadotropic hypogonadism, Deeply set eye, Abnormality o... OMIM:300845
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Mandibular prognathia, Deeply set eye, Wide nasal bridge ORPHA:137831
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Mandibular prognathia, Short nose ORPHA:2429
Rhiny
Anteverted nares, Short nose OMIM:180360
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
6P22 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Short metacarpal, Short foot, Wide nasal bridge, Proptosis, Short toe, Micrognathia OMIM:614078
Mental Retardation With Language Impairment And With Or Without Autistic Features
Hypertelorism, Short nose, Enuresis, Broad nasal tip, Retrognathia, Malar flattening OMIM:613670
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypertelorism, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive... OMIM:617241
Tetraploidy
Convex nasal ridge, Aplasia/Hypoplasia of the thymus, Aplasia/Hypoplasia of the lungs, Hydronephr... ORPHA:3305
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Hypothyroidism, Deeply set eye, Broad nasal tip, Broad columella, Anteverted nares OMIM:617763
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requ... ORPHA:264675
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral ref... OMIM:618454
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Deeply set eye, Retrognathia, Wide nasal bridge OMIM:618342
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Renal dysplasia, Pulmonary hypopla... OMIM:241800
Rhyns Syndrome
Nephronophthisis, Deeply set eye, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Posterior Urethral Valve
Dysuria, Hypertelorism, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Un... ORPHA:93110
X-Linked Intellectual Disability, Schimke Type
Deeply set eye, Vesicoureteral reflux, Hydronephrosis, Narrow nasal bridge ORPHA:85285
Cornelia De Lange Syndrome 5
Cryptorchidism, Hypertelorism, Anteverted nares, Micropenis, Deeply set eye, Short foot, Hypogona... OMIM:300882
Glycogen Storage Disease Iii
Ventricular hypertrophy, Deeply set eye, Broad nasal tip, Malar flattening, Cardiomyopathy, Depre... OMIM:232400
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Deeply set eye, Short mandibular rami OMIM:141300
Pierpont Syndrome
Cryptorchidism, Short toe, Hypertelorism, Short nose, Broad nasal tip, Short finger, Short palm, ... OMIM:602342
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metatarsal, Pseudohypoparathyroidism, Deeply set eye, Short metacarpal, Wide nasal bridge, ... OMIM:617157
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Deeply set eye, Small han... OMIM:300869
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bifid nose, Micrognathia, Bulbous nose, Bifid nasal tip OMIM:275595
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, Abnormal heart morphology, Hydronephrosis, Renal cyst, ... OMIM:613390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal agenesis, Short nose, Anteverted nares, Hypertelorism, Renal hypoplasia, Sh... ORPHA:171839
Gand Syndrome
Deeply set eye, Hypertelorism, Wide nasal bridge, Broad nasal tip OMIM:615074
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology, Proptosis ORPHA:3303
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Dyspnea, Hypertrophic cardiomyopathy OMIM:613255
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Hypotelorism, Mesomelia, Hand oligodactyly, Hydronephrosis, Absent thum... OMIM:602418
Barth Syndrome
Endocardial fibroelastosis, Mandibular prognathia, Deeply set eye, Neutropenia, Granulocytopenia,... OMIM:302060
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Carious teeth, Atrial septal defect, Horseshoe kidney, Abnormal ... ORPHA:363444
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye OMIM:619058
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hydroureter, Patent ductus arteriosus, Abnormality of the bladder, Abnormality of the... ORPHA:2547
Mental Retardation, Autosomal Recessive 39
Deeply set eye, Prominent nose OMIM:615541
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Bulbous nose, Abnormal heart morphology, Renal hypoplasia, Deeply set eye, Hydron... OMIM:618494
Granddad Syndrome
Prominent nasal septum, Deeply set eye, Underdeveloped nasal alae OMIM:138920
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Short foot OMIM:300577
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Overlapping toe, Ventricular septal ... OMIM:617478
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Hypo... ORPHA:2257
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology, Short distal phalanx o... ORPHA:2516
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Bulbous nose, Deeply set eye, Wide nasal bridge, Micrognathia ORPHA:261304
Perching Syndrome
Camptodactyly, Respiratory distress OMIM:617055
Horner Syndrome, Congenital
Deeply set eye OMIM:143000
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonic stenosis, ... ORPHA:2414
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Abnormal renal collecting system morphology, B... OMIM:616809
Harel-Yoon Syndrome
Short nose, Deeply set eye, Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy OMIM:617183
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Renal Tubular Dysgenesis
Multiple renal cysts, Hypertelorism, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, P... ORPHA:3033
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Atrial situs ambiguous, Double outlet right ventricle, Chronic sinusiti... ORPHA:244
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Hypertelorism, Short fourth metatarsal, Renal hypoplasia, Pseudohypoparathyroidis... ORPHA:464288
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Patent duct... OMIM:612541
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Deeply set eye, Micrognathia OMIM:300934
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney,... OMIM:601186
Chromosome 18P Deletion Syndrome
Cryptorchidism, Hypertelorism, Anteverted nares, Wide nasal bridge, Decreased testicular size, Mi... OMIM:146390
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Micrognathia, Depressed nasal bridge ORPHA:1918
Infant Acute Respiratory Distress Syndrome
Abnormal thorax morphology, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea... ORPHA:70587
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
8P23.1 Microdeletion Syndrome
Cryptorchidism, Short nose, Deeply set eye, Abnormal aortic morphology, Patent ductus arteriosus,... ORPHA:251071
Diamond-Blackfan Anemia 8
Hypertelorism, Short nose, Neutropenia, Wide nasal bridge, Increased mean corpuscular volume, Mac... OMIM:612563
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Respiratory distress, Narrow chest, Ventricular ... OMIM:617895
Chromosome 14Q11-Q22 Deletion Syndrome
Cryptorchidism, Short nose, Ventricular septal defect, Deeply set eye, Patent ductus arteriosus, ... OMIM:613457
Cubitus Valgus With Mental Retardation And Unusual Facies
Deeply set eye OMIM:300471
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Hypertelorism, Bulbous nose, Deeply set eye, Prominent superficial veins, Hyp... OMIM:612940
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Deeply set eye, Micrognathia, Bulbous nose OMIM:613604
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Cryptorchidism, Deeply set eye, Decreased testicular size, Prominent nasal bridge, Short palm, Hy... ORPHA:85279
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypertelorism, Anteverted nares, Deeply set eye, Small hand, Short foot, Prominent nasal bridge OMIM:618443
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Hypoxemia, Pneumonia, Decreased DLCO, Clubbing, C... OMIM:610910
Pettigrew Syndrome
Deeply set eye, Mandibular prognathia, Prominent nose OMIM:304340
Chromosome 20Q11-Q12 Deletion Syndrome
Deeply set eye, Hypertelorism OMIM:614257
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary ... OMIM:615524
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Short nose, Patent ductus arteriosus, Short ribs, Limb undergrowth, Proptosis, Ant... OMIM:618961
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Short nose, Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia invo... ORPHA:1529
Maternal Phenylketonuria
Abnormal renal morphology, Deviated nasal septum, Hypotelorism, Abnormal heart morphology, Ventri... ORPHA:2209
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hypospadias, Tetralogy of Fallot, Mi... ORPHA:1913
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Cryptorchidism, Deeply set eye, Delayed pubert... OMIM:301900
20Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism ORPHA:444051
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Hypertelorism, Rhizomelia, Short foot, Wide nasal bridge, Thrombocytopenia, Small... OMIM:611209
Nabais Sa-De Vries Syndrome, Type 2
Hypertelorism, Bulbous nose, Anteverted nares, Hypothyroidism, Deeply set eye, Multicystic kidney... OMIM:618829
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Pectus excavatum, Coarctation ... ORPHA:261243
Warburg Micro Syndrome 1
Cryptorchidism, Deeply set eye, Wide nasal bridge, Micrognathia, Anteverted nares OMIM:600118
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Deeply set eye, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephros... OMIM:609757
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Exertional dyspnea, Abnormal tricuspid valve morphology, Coarc... ORPHA:1330
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration ORPHA:2004
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular septal defect, ... OMIM:609029
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Deeply set eye, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/apl... ORPHA:2570
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognathia, Abnormality of the... ORPHA:1248
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Hypertelorism, Short nose, Aplasia/Hypoplasia of the lungs, Abnormality of th... ORPHA:2145
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Bulbous nose, Deeply set eye, Broad nasal tip, Micrognathia, Anteverted nares, Depressed nasal br... ORPHA:480907
12Q14 Microdeletion Syndrome
Horseshoe kidney, Hypertelorism, Renal hypoplasia, Deeply set eye, Abnormality of the nares, Ecto... ORPHA:94063
Acrofacial Dysostosis Syndrome Of Rodriguez
Hypertelorism, Deeply set eye, Wide nasal bridge, Fibular hypoplasia, 11 pairs of ribs, Short tib... OMIM:201170
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Congenital Laryngeal Web
Abnormal cardiac septum morphology, Stridor, Respiratory distress ORPHA:2374
Al-Raqad Syndrome
Deeply set eye, Short nose OMIM:616459
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Hypertelorism, Anteverted nares, Mandibular prognathia, Deeply set eye, Small hand, Depressed nas... OMIM:618672
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Toe syndactyly, Truncus arteriosus, Finger syndact... ORPHA:2008
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Hypertelorism, Short nose, Broad nasal tip, Ant... OMIM:137550
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Hypertelorism, Ventricular septal defect, Autoimmune hemolytic anemia, Hypopla... OMIM:243150
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye OMIM:301024
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Hydronephrosis, Tetralogy ... ORPHA:1926
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Hypertelorism, Short nose, Anteverted nares, Mesomelia, Proptosis, Short distal p... OMIM:616331
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Choanal stenosis, Patent ductus arteriosus, Micrognathia, Malar flattening,... OMIM:241310
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormal heart morphology, Mandibular prognathia, Abnormality of the u... OMIM:182290
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Dyspnea, Cough, Hypoxemia, Crackles, Decreased DLCO, ... ORPHA:747
17P13.3 Microduplication Syndrome
Hypertelorism, Short nose, Wide nose, Hypoplasia of penis ORPHA:217385
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Mandibular prognathia, Deeply set eye, Delayed puberty, Micrognathia,... ORPHA:496790
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pierpont Syndrome
Cryptorchidism, Hypertelorism, Short finger, Deeply set eye, Wide nasal ridge, Short toe, Malar f... ORPHA:487825
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Hypertelorism, Renal hypoplasia, Hypoplasia of the ulna, Renal agenesis... OMIM:212780
Holoprosencephaly 3
Cyclopia, Hypotelorism, Short columella, Abnormality of the nose, Proptosis, Proboscis, Hydroneph... OMIM:142945
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Short nose, Bulbous nose, Abnormal heart morphology, Ventricular septal ... ORPHA:284169
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Hypertelorism, Ventricular septal ... ORPHA:2256
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Short metatarsal, Broad nasal tip, Deeply set eye, Short metacarpal,... OMIM:600430
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Deepl... OMIM:617602
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Cleft ala nasi, Mandibular prognathia, Deeply set... ORPHA:3044
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... OMIM:306955
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Deeply set eye, Hypotelorism, Anteverted nares, Depressed nasal bridge OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye OMIM:300699
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Deeply set eye, Broad columella, Prominent nasal bridge, Carious teeth ORPHA:457365
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Hypertelorism, Mandibular prognathia, Deeply set eye, Wide nasal bridg... ORPHA:137834
Odontochondrodysplasia
Respiratory distress, Narrow chest, Square pelvis bone, Bowing of the long bones, Cone-shaped epi... ORPHA:166272
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular septal defect, ... ORPHA:96170
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Hypoxemia, Neonatal respiratory ... OMIM:610921
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hypertelorism, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Low-... OMIM:617516
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypertelorism, Short nose, Proptosis, Wide nasal bridge, Micrognathia, Anteverted... OMIM:618577
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Robinow Syndrome, Autosomal Recessive 2
Hypertelorism, Short nose, Mesomelia, Proptosis, Wide nasal bridge, Bicuspid aortic valve, Broad ... OMIM:618529
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Renal atrophy, Hydronephrosis, Depressed nasal ridge, Micrognathia OMIM:618578
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Deeply set eye, Anteverted nares, Bulbous nose, Depressed nasal bridge OMIM:617268
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Neonatal Hemochromatosis
Prominent nose, Micrognathia, Anteverted nares, Abnormal localization of kidney ORPHA:446
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypertelorism, Short nose, Hypospadias, Depressed nasal bridge OMIM:616910
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Deeply set eye, Pituitary hypothyroidism, Vesicoureteral refl... OMIM:615926
Toluene Embryopathy
Cryptorchidism, Short nose, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of the zy... ORPHA:1920
Mental Retardation, Autosomal Dominant 20
Hypertelorism, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Long nasal bridge, Hypotelorism, Depressed nasal bridge OMIM:162100
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hypertelorism, Patent ductus arteriosus, Increased mean platelet volume, Thrombocytopenia, Hydron... OMIM:300048
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deeply set eye, Anteverted nares OMIM:618859
Freeman-Sheldon Syndrome
Cryptorchidism, Hypertelorism, Underdeveloped nasal alae, Deeply set eye, Wide nasal bridge, Depr... ORPHA:2053
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Short humerus, Absent radius, Hydronephrosis, Atrioventricular... OMIM:314390
Rhyns Syndrome
Nephronophthisis, Deeply set eye, Pituitary hypothyroidism, Chronic kidney disease, Renal insuffi... OMIM:602152
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Micrognathia, Short nose, Anemia ORPHA:2598
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Thoracic kyphoscoliosis, Exertional dyspnea, Orthopnea, Facial pa... ORPHA:98913
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Micrognathia, Prominent nasal bridge OMIM:214150
Xfe Progeroid Syndrome
Enamel hypoplasia, Convex nasal ridge, Deeply set eye, Renal insufficiency, Proteinuria OMIM:610965
Fatty Acyl-Coa Reductase 1 Deficiency
Hypertelorism, Short nose, Depressed nasal bridge ORPHA:438178
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Hypertelorism, Short nose, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
3C Syndrome
Atrial septal defect, Adrenal hypoplasia, Short nose, Hypertelorism, Abnormal tricuspid valve mor... ORPHA:7
Congenital Diaphragmatic Hernia
Hypoxemia, Prominent sternum, Respiratory distress ORPHA:2140
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of... ORPHA:896
Succinic Acidemia
Respiratory distress OMIM:600335
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Deeply set eye, Mandibular prognathia, Hypertelorism, Short nose OMIM:618087
Diaphanospondylodysostosis
Short thorax, Respiratory distress, Enlarged thorax, Missing ribs, Narrow pelvis bone ORPHA:66637
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Respiratory distress, Narrow chest ORPHA:1423
Bardet-Biedl Syndrome 16
Hearing impairment, Recurrent otitis media, Respiratory distress OMIM:615993
Cerebrooculofacioskeletal Syndrome 2
Convex nasal ridge, Deeply set eye, Large beaked nose, Micrognathia, Micropenis OMIM:610756
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Narrow chest, Short ribs, Thin ribs, Femoral bowing OMIM:618188
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory distress, Post... OMIM:617102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Hypertelorism, Short nose, Bronchiectasis, Pneumonia, Malar flattening, Reduce... OMIM:242860
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Proptosis ORPHA:2370
Pentasomy X
Hypertelorism, Patent ductus arteriosus, Wide nasal bridge, Delayed puberty, Small hand, Short fo... ORPHA:11
Cutis Laxa, Autosomal Recessive, Type Ic
Hypertelorism, Micrognathia, Emphysema, Tracheomalacia, Bladder diverticulum, Wide nasal bridge, ... OMIM:613177
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Deeply set eye, Micrognathia OMIM:618381
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Ventricular septal defect, Deeply set eye, Unilateral renal agenesis, Tetralogy o... ORPHA:3306
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, Pulmonary arterial hypertension OMIM:234810
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Dextrocardia, H... OMIM:606763
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Convex nasal ridge, Cryptorchidism, Deeply set eye, Decreased response to growth hormone stimuati... OMIM:241410
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Overfolded helix, Low-set ears, Posteriorly rotated ears, Respirat... ORPHA:2759
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Hypertelorism, Short nose, Anteverted nares, Ventricular septal defect, Pleural effu... OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Deeply set eye, Short foot, Malar flattening, Depressed nasal bridge OMIM:300860
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Malar flattening ORPHA:85280
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Lessel-Kreienkamp Syndrome
Atrial septal defect, Deeply set eye, Patent ductus arteriosus, Wide nasal bridge, Pulmonic steno... OMIM:619149
Pulmonary Capillary Hemangiomatosis
Clubbing of fingers, Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural eff... ORPHA:199241
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Short nose, Underdeveloped nasal alae, Hydronephrosis, Hypoplasia of penis, Micro... ORPHA:2083
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short toe, Malar flatt... OMIM:613458
Satb2-Associated Syndrome Due To A Pathogenic Variant
Deeply set eye, Laryngomalacia, Short foot, Micrognathia, Abnormality of globe location ORPHA:576283
Simpson-Golabi-Behmel Syndrome, Type 2
Hypertelorism, Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Short ... OMIM:300209
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Exertional dyspnea, Patent ductus ... ORPHA:229
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Hypotelorism, Rhizomelia, Hypoplastic scapulae, Deeply set eye, Short humerus, Mi... OMIM:602471
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Stormorken Syndrome
Hypotelorism, Deeply set eye, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies,... OMIM:185070
Chung-Jansen Syndrome
Cryptorchidism, Hypertelorism, Short nose, Micrognathia, Anteverted nares OMIM:617991
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Short metatarsal, Short nose, Mandibular prognathia, Malar flattening, Congenital... OMIM:614613
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Respiratory distress, Cardiomyopathy ORPHA:26792
Verheij Syndrome
Short nose, Renal hypoplasia, Wide nasal bridge, Renal cyst, Renal agenesis, Abnormal cardiac sep... OMIM:615583
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Horseshoe kidney, Deeply set eye, Micrognathia, Prominent nasal bridge ORPHA:502434
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Atrial septal defect, Broad ribs, Respiratory distress, Ventricular s... ORPHA:2519
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Baller-Gerold Syndrome
Hypertelorism, Short nose, Hypotelorism, Aplasia/Hypoplasia of the radius, Abnormal localization ... ORPHA:1225
Tarp Syndrome
Hypoplasia of the radius, Horseshoe kidney, Hypertelorism, Short sternum, Wide nasal bridge, Hydr... OMIM:311900
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Bulbous nose, Deeply set eye, Vesicoureteral reflux, Prominent nasal bridge, Depresse... OMIM:618828
Stormorken-Sjaastad-Langslet Syndrome
Deeply set eye, Asplenia, Anemia ORPHA:3204
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Vestibular dysfunction, Ventricular septal defect, Peripheral pulmonary artery stenosis, Sensorin... OMIM:617992
5Q14.3 Microdeletion Syndrome
Deeply set eye, Anteverted nares, Short nose ORPHA:228384
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Deafness-Craniofacial Syndrome
Deeply set eye, Patent ductus arteriosus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:3241
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Genitopatellar Syndrome
Delayed eruption of teeth, Cryptorchidism, Atrial septal defect, Hypertelorism, Short palm, Multi... ORPHA:85201
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Deeply set eye OMIM:618512
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Prominent nasal bridge OMIM:611523
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Microphallus, Hypotelorism, Mandibular prognathia, Deeply set eye, Long nose, Mic... OMIM:300486
Axial Spondylometaphyseal Dysplasia
Hypertelorism, Short nose, Rhizomelia, Proptosis, Anteverted nares ORPHA:168549
Choanal Atresia
Respiratory distress, Polydactyly, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway o... ORPHA:137914
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Trisomy 13
Cryptorchidism, Multiple renal cysts, Atrial septal defect, Hypotelorism, Ventricular septal defe... ORPHA:3378
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hypertelorism, Macroorchidism, Short nose OMIM:300143
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Premature sternal synostosis, Abnormal heart morphology, Short sternum, Micrognathia OMIM:184800
Teebi Hypertelorism Syndrome
Atrial septal defect, Hypertelorism, Short nose, Ventricular septal defect, Natal tooth, Wide nas... OMIM:145420
Hypertelorism And Tetralogy Of Fallot
Hypertelorism, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent ... OMIM:239711
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Hypertelorism, Short nose, Taurodontia, Hypothyroidism, Mandib... ORPHA:819
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Short nose, Decreased response to growth hormone stimuation t... OMIM:614732
Leber Congenital Amaurosis 8
Deeply set eye OMIM:613835
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Persistence of hemoglobin F, Ventri... OMIM:612561
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypertelorism, Short nose, Anosmia, Abnormality of the nares, Short distal phalanx of finger, Hyp... ORPHA:1295
Sanjad-Sakati Syndrome
Convex nasal ridge, Abnormal dental enamel morphology, Cryptorchidism, Deeply set eye, Short foot... ORPHA:2323
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Pericardial effusion, Crackles, H... ORPHA:79126
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypertelorism, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus... OMIM:214110
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypertelorism, Recurrent upper respiratory tract infection... ORPHA:391372
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Hypertelorism, Anteverted nares, Abnormal heart morphology, Aplasia/Hypoplasia of... ORPHA:96092
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the radius, Short toe, Short metatarsal, Short nose, Cry... ORPHA:950
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Alagille Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, Ventricular septal defect, Micrognathia, Dee... ORPHA:52
Burn-Mckeown Syndrome
Atrial septal defect, Hypertelorism, Underdeveloped nasal alae, Ventricular septal defect, Renal ... OMIM:608572
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch, Supraumbilical raphe, Bifid sternum OMIM:140850
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Atrial septal defect, Respiratory distress, Ventricular... OMIM:610978
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Deeply set eye, Aminoaciduria ORPHA:833
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, Eosinophilia, B ... OMIM:603554
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Hydroneph... OMIM:598500
Kleefstra Syndrome
Cryptorchidism, Mandibular prognathia, Vesicoureteral reflux, Pulmonary artery stenosis, Renal in... ORPHA:261494
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic kyphosis, Abnormality of the optic disc, Thoracic scoliosis, Preaxial hand ... ORPHA:508498
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Joint contracture of the 5th finger, Progeroid facial appearance, ... OMIM:602249
Trisomy 1Q
Cryptorchidism, Hypertelorism, Ventricular septal defect, Microretrognathia, Congenital megaurete... ORPHA:261344
Axial Mesodermal Dysplasia Spectrum
Hypertelorism, Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of... ORPHA:1834
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypertelorism, Ventricular septal defect, Proptosis,... OMIM:235255
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Hypopla... OMIM:300400
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Horseshoe kidney, Hypertelorism, Abnormal heart morpholog... ORPHA:314588
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Short distal phalanx of finger, Hypogonadism, Short nasal septum, Depressed ... OMIM:302950
Bangstad Syndrome
Convex nasal ridge, Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morph... ORPHA:1227
Trisomy 12P
Hypertelorism, Short nose, Supernumerary nipple, Abnormality of the urinary system, Proptosis, Wi... ORPHA:1699
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Breath-Holding Spells
Cyanosis OMIM:607578
Chops Syndrome
Cryptorchidism, Horseshoe kidney, Short nose, Hypertelorism, Patent ductus arteriosus, Proptosis,... OMIM:616368
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Deeply set eye, Hypose... ORPHA:250999
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Deeply set eye, Abnormal aortic morphology, Tracheomalacia, Multicysti... ORPHA:1001
Chromosome 6Q11-Q14 Deletion Syndrome
Hypotelorism, Hypertelorism, Short nose, Broad nasal tip OMIM:613544
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Hypertelorism, Short nose, Ventricular septal defect, Short distal phalanx ... OMIM:614261
Joubert Syndrome 14
Hypertelorism, Deeply set eye, Malar flattening, Renal cyst, Prominent nasal bridge OMIM:614424
Prolidase Deficiency
Hypertelorism, Short nose, Concave nasal ridge, Proptosis, Thrombocytopenia, Splenomegaly, Anemia... OMIM:170100
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye OMIM:618158
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Pericardial effusion, Vesicoureteral reflux, Depressed nasal bridge, Thyroid lymp... OMIM:235510
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Deeply set eye, Micropenis, Ventricular septal defect OMIM:618504
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dec... ORPHA:477817
Short Stature, Microcephaly, And Endocrine Dysfunction
Convex nasal ridge, Cryptorchidism, Hypotelorism, Renal hypoplasia, Hypothyroidism, Lymphopenia, ... OMIM:616541
16P11.2P12.2 Microdeletion Syndrome
Short nose, Absent nasal bridge, Bulbous nose, Microretrognathia, Hypotelorism, Deeply set eye, L... ORPHA:261211
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Carious teeth, Hypertelorism, Short nose, Pulmonic stenosis, Anteverted nares, Hy... ORPHA:2701
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Distal Trisomy 18Q
Cryptorchidism, Carious teeth, Short nose, Anteverted nares, Choanal atresia, Hypoplasia of penis... ORPHA:1716
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Atrial septal defect, Ventricular septal defect, De... OMIM:270450
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesi... ORPHA:1166
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Infantile sensorineural hearing impairment, Respiratory distress, Ventilator dependence with inab... ORPHA:254875
Distal Trisomy 5Q
Cryptorchidism, Carious teeth, Hypoplasia of the radius, Hypertelorism, Short nose, Ventricular s... ORPHA:96097
Melnick-Needles Syndrome
Delayed eruption of teeth, Hypertelorism, Craniofacial hyperostosis, Proptosis, Short distal phal... ORPHA:2484
Seckel Syndrome 8
Convex nasal ridge, Micrognathia, Ectopic kidney OMIM:615807
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Deeply set eye, Thrombocytopenia, Hypotelorism OMIM:616937
Trisomy 17P
Hypertelorism, Urethral valve, Patent ductus arteriosus, Thick nasal alae, Urethral stenosis, Aor... ORPHA:261290
Mental Retardation, Autosomal Dominant 38
Deeply set eye, Depressed nasal bridge OMIM:616393
Stickler Syndrome Type 1
Mitral valve prolapse, Short nose, Proptosis, Hypoplasia of the maxilla ORPHA:90653
Fibrochondrogenesis 2
Short nose, Short ribs, Malar flattening, Micrognathia, Anteverted nares OMIM:614524
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Atrial septal defect, Bulbous nose, Short nose, Hypotelorism, Ventri... OMIM:614114
Short Stature-Obesity Syndrome
Limb undergrowth, Narrow nose, Micrognathia, Prominent nasal bridge, Micromelia OMIM:269870
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Rhizomelia, Mandibular prognathia, Short humerus, Short metacarpal, Depressed nasal r... ORPHA:2831
Intellectual Disability, Buenos-Aires Type
Hypertelorism, Mandibular prognathia, Wide nasal bridge, Abnormal cardiac septum morphology, Hydr... ORPHA:3079
Acromicric Dysplasia
Short nose, Bulbous nose, Small hand, Short metacarpal, Anteverted nares, Short palm ORPHA:969
Pulmonary Arteriovenous Malformation
Pulmonary arteriovenous fistulas, Dyspnea, Bacterial endocarditis, Cough, Hemothorax, Epistaxis, ... ORPHA:2038
Odontochondrodysplasia 1
Short phalanx of finger, Narrow chest, Flared iliac wing, Pectus carinatum, Delayed ossification ... OMIM:184260
Stromme Syndrome
Accessory spleen, Hypertelorism, Short columella, Deeply set eye, Wide nasal bridge, Bilateral re... OMIM:243605
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Dextrocardia, Double outlet right ventricle, Mesocardia, Lef... OMIM:605376
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Hydronephrosis,... OMIM:618161
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Micrognathia, Hydronephrosis, Ventricular septal defect OMIM:607598
Autosomal Recessive Amelia
Cryptorchidism, Acromelia of the lower limbs, Amelia involving the upper limbs, Amelia, Aplasia/H... ORPHA:1027
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Hypertelorism, Short nose, Hypothyroidism, Dee... ORPHA:1812
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Syndromic Diarrhea
Thrombocytosis, Hypertelorism, Atrial septal defect, Abnormal heart morphology, Renal hypoplasia,... ORPHA:84064
Distal 17P13.1 Microdeletion Syndrome
Deeply set eye, Retrognathia, Prominent nasal bridge, Hypoplasia of the zygomatic bone ORPHA:319171
Pfeiffer Syndrome Type 3
Short hallux, Horseshoe kidney, Short nose, Hypertelorism, Choanal atresia, Tracheomalacia, Laryn... ORPHA:93260
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Deeply set eye, Coarctation of aorta, Short 5th ... OMIM:600987
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Deeply set eye, Aminoaciduria, Neutropenia, Macrothrombocytopenia, Thromboc... OMIM:603585
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Acquired Methemoglobinemia
Vertigo, Dyspnea, Respiratory distress, Hypoxemia, Cyanosis ORPHA:464453
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Bulbous nose, Deeply set eye, Hypogonadism, Patellar hypoplasia, Broad nasal tip, Decr... ORPHA:3041
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Short nose OMIM:617061
Ssr4-Cdg
Deeply set eye, Horseshoe kidney, Patent ductus arteriosus ORPHA:370927
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Splenomegaly, Anemia, Hypoplasia of p... ORPHA:1046
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Upper limb undergrowth, Short metatarsal, Shor... ORPHA:439822
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Absent nipple, Hypertelorism, Patent ductus arteriosus, Wide nasal bridge,... OMIM:104350
Rare Circulatory System Disease
Arterial tortuosity, Abnormal metatarsal morphology, Abnormality of finger, Thoracic kyphosis, Ar... ORPHA:98028
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Mandibular prognathia, Deeply set eye, Short distal phalanx of finger, Short foot... OMIM:300534
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Right ventricular hypertrophy, Left ventricular hypertro... ORPHA:444013
Congenital Disorder Of Glycosylation, Type Il
Hypertelorism, Short nose, Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac se... OMIM:608776
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Micrognathia, Prominent nasa... ORPHA:1745
Clark-Baraitser Syndrome
Hypertelorism, Short nose, Depressed nasal bridge OMIM:617752
Short Syndrome
Abnormal dental enamel morphology, Hypertelorism, Short palm, Abnormality of the zygomatic bone, ... ORPHA:3163
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Hypogonadism, Short nose, Hypoplasia of penis ORPHA:2983
Desanto-Shinawi Syndrome
Deeply set eye, Hypertelorism, Bulbous nose, Depressed nasal bridge OMIM:616708
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Bainbridge-Ropers Syndrome
Hypertelorism, Short nose, Anteverted nares, Broad nasal tip, Prominent nasal bridge OMIM:615485
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Osteolysis involving bones of the upper limbs, C... ORPHA:371428
Mosaic Trisomy 8
Cryptorchidism, Hypertelorism, Deeply set eye, Vesicoureteral reflux, Hydronephrosis, Patellar ap... ORPHA:96061
Christianson Syndrome
Deeply set eye, Mandibular prognathia, Abnormality of the nose ORPHA:85278
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T... ORPHA:2184
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hypertelorism, Ventricular septal defect, Duplicated collecting system, Thrombocy... OMIM:301056
Potocki-Shaffer Syndrome
Micropenis, Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Vesicoureteral reflux, Hydronephrosis OMIM:618265
Miller-Dieker Syndrome
Anteverted nares, Short nose, Nephropathy ORPHA:531
Achondrogenesis
Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares, Micromelia ORPHA:932
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Respiratory distress, Abnormal heart morphology, Respiratory insufficiency du... ORPHA:1143
Achondrogenesis Type 1A
Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Micrognathia, Anteverted nares, Short pa... ORPHA:93299
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Cholelithiasis, Wide nasal bridge, Double outlet ... OMIM:614886
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Varicose veins, Abnormal heart morphology, Deeply set eye, Vascular dilatatio... OMIM:618343
Radio-Tartaglia Syndrome
Hypertelorism, Bulbous nose, Anteverted nares, Ventricular septal defect, Deeply set eye, Wide na... OMIM:619312
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Micropenis, Patent duc... OMIM:613870
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Cryptorchidism, Advanced eruption of teeth, Hypertelorism, Deeply set ... OMIM:619148
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Natal tooth, Choanal atresia, Patent ductus arteriosus, Decreased te... OMIM:146510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hypertelorism, Short nose, Thick nasal alae, Retrognathia, Micrognathia ORPHA:163961
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short nose ORPHA:1389
15Q14 Microdeletion Syndrome
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Deeply set eye, Laryngomalac... ORPHA:261190
Basilicata-Akhtar Syndrome
Choanal stenosis, Deeply set eye, Wide nasal ridge, Short foot, Retrognathia, Anteverted nares, P... OMIM:301032
Microform Holoprosencephaly
Panhypopituitarism, Maternal diabetes, Short nose, Cyclopia, Hypothyroidism, Choanal atresia, Mid... ORPHA:280200
Mental Retardation, Autosomal Dominant 7
Deeply set eye, Micrognathia, Bulbous nose, Hypotelorism OMIM:614104
Campomelic Dysplasia
Apnea, Respiratory distress, Abnormal heart morphology, Thoracic hypoplasia, Hypoplastic scapulae... OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Atrial septal defect, Hypertelorism, Short nose, Patent ductus arteriosus, Blad... OMIM:614080
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Autosomal Recessive Omodysplasia
Cryptorchidism, Hypoplastic distal humeri, Short nose, Rhizomelia, Micromelia, Mesomelia, Microgn... ORPHA:93329
Achondrogenesis Type 1B
Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Micrognathia, Anteverted nares, Micromelia ORPHA:93298
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Patent ductus arteriosus, Small hand... OMIM:608799
Hydrolethalus
Cryptorchidism, Deeply set eye, Tracheal atresia, Laryngomalacia, Abnormality of the sense of sme... ORPHA:2189
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ab... ORPHA:2847
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Short nose, Hypotelorism OMIM:615042
Short Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Deeply set eye, Insulin-resistant diabetes ... OMIM:269880
Pfeiffer Syndrome
Hypertelorism, Short nose, Choanal stenosis, Hypoplasia of the maxilla, Mandibular prognathia, Ch... OMIM:101600
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Short nasal bridge... ORPHA:2409
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Prominent sternum, Conductive hearing impairment, Pectus excavatum, Short 5th metacarpal, Sandal ... OMIM:617877
Mosaic Trisomy 9
Cryptorchidism, Multiple renal cysts, Horseshoe kidney, Bulbous nose, Hypertelorism, Hypotelorism... ORPHA:99776
Suleiman-El-Hattab Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, Ventricular septal defect, Microretrognathia... OMIM:618950
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Hypochromic microcytic anemia, Renal agenesis, Short nose, Anteverted nares, Hype... OMIM:301040
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Short nose, Recurrent pneumonia ORPHA:1495
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Decre... ORPHA:2326
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Hydroureter, Ventricula... ORPHA:1458
Paganini-Miozzo Syndrome
Urinary incontinence, Deeply set eye, Mandibular prognathia OMIM:301025
Treacher-Collins Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Hypertelorism, Choanal atresia, Patent ductus ... ORPHA:861
Fryns Syndrome
Cryptorchidism, Hypertelorism, Abnormal aortic arch morphology, Abnormal aortic morphology, Multi... ORPHA:2059
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Deeply set eye, Hypopituitarism, Abnormal pulmonary interstiti... OMIM:619013
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Hypothyroidism, Deeply set eye, Patent ductus arter... ORPHA:293939
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, Deeply set eye, Micropenis, Wide nasal bridge OMIM:615966
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Urethral valve, Abnormal heart morphology, Patent ductus arteriosus,... OMIM:100100
Thakker-Donnai Syndrome
Hypertelorism, Bulbous nose, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Ante... ORPHA:1780
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypertelorism, Ventricular septal defect, Unilateral renal agenesis, Patent... OMIM:618142