Gene: Dvl3 MGI:108100

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.

Human diseases associated with Dvl3 (2 diseases)
Human diseases predicted to be associated with Dvl3 (1326 diseases)

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		Cryptorchidism, Hypertelorism, Short nose, Anteverted nares, Hypoplastic right heart, Patent fora...	OMIM:616894
Autosomal Dominant Robinow Syndrome		Cryptorchidism, Hypertelorism, Short nose, Abnormal penis morphology, Micromelia, Short palm, Pro...	ORPHA:3107

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

Disease	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

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