Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plexin D1
Synonyms:
6230425C21Rik,  b2b553Clo,  b2b1863Clo

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 Plxnd1 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 Plxnd1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Plxnd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper l... OMIM:231060
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Thymic Aplasia With Fetal Death
Renal agenesis, Truncus arteriosus, Ureteral agenesis OMIM:274210
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Short nose, Ventricular ... ORPHA:401935
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Truncus arteriosus, Renal cyst, Ventricular septal defect OMIM:228940
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Brachyolmia Type 2
Platyspondyly OMIM:613678
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum OMIM:608361
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... OMIM:618845
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... OMIM:601927
Cardioacrofacial Dysplasia 2
Short philtrum, Accessory oral frenulum, Deep philtrum, Mandibular prognathia, Conical tooth, Hyp... OMIM:619143
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypo... ORPHA:3426
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, Ventricular septal defect, High palate, Everted lower li... ORPHA:261120
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Anosmia, Patent ductus arteriosus, Cl... OMIM:147770
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Pulmonic ste... OMIM:615415
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney,... OMIM:601186
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Abnormality of the mouth, Intestinal bleeding OMIM:600195
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Chronic rhinitis, R... OMIM:617577
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Osteopenia, Flat acetabular roof, Intervertebral space narrowing,... OMIM:271530
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect OMIM:616589
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia OMIM:261800
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Choanal stenosis, Patent ductus arteriosus, Microgna... OMIM:241310
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Genu varum, Delayed ossification of carpal bones OMIM:617974
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Crypt... OMIM:609029
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... OMIM:192430
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... OMIM:617719
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
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
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Ventricular septal defect OMIM:270460
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... ORPHA:294975
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Abnormality of the dentition, Malar flattening, Delayed puberty, High... ORPHA:217340
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Median cleft pal... ORPHA:40366
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Pineal cyst, Ventricular septal defect, Ureteral duplication,... OMIM:617516
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic mo... ORPHA:1166
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Abnormal ca... ORPHA:1200
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Dysspondyloenchondromatosis
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypo... OMIM:617022
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... OMIM:259450
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... OMIM:277740
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Depressed nasal ridge, Displacement of the ur... ORPHA:1727
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Acrocardiofacial Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Wide nasal b... ORPHA:2008
Fetal Minoxidil Syndrome
Cryptorchidism, Micrognathia, Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hypospadias, High palate, Tetralogy ... ORPHA:1913
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Emanuel Syndrome
Cryptorchidism, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Broad jaw, High p... ORPHA:96170
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Macrocytic anemia, Persistence of hemoglobin F, Ve... OMIM:612561
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Complete at... OMIM:264480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Osteogenesis Imperfecta, Type V
Platyspondyly, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... ORPHA:251076
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... OMIM:612541
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Cryptorchidism, Atrial septal defect, Natal tooth, Short ribs, Hypodon... OMIM:225500
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Abnormal heart morphology, Trismus, Abnormal tracheobronchial morph... OMIM:218450
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Microglossia, Pulmonary hypoplasia... OMIM:241800
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Knee pain, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxati... OMIM:184100
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... OMIM:618021
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral synechia, Cleft palate, Micro... ORPHA:1388
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... OMIM:166230
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... OMIM:615382
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract ORPHA:1705
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary ... OMIM:615524
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Pat... OMIM:179613
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... ORPHA:750
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Recurrent respiratory infections, Ventricular septal... OMIM:253300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Toot... ORPHA:1277
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Monosomy 13Q34
Epistaxis, Pulmonic stenosis, Broad nasal tip, Micrognathia, Prominent nasal bridge, Common atriu... ORPHA:96168
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Bulbous nose, Wide nasal bridge, Cleft palate, Micrognathia, ... ORPHA:93946
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Decreased response to growth hormone stimuation test, Vascular dilatat... OMIM:616430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arc... ORPHA:1110
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... OMIM:610205
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... ORPHA:99642
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Joint dislocation, Abnormality of the wrist, Kyphoscoliosis ORPHA:93316
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... ORPHA:1832
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Thick lower lip ve... OMIM:608227
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Genu varum OMIM:618728
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... OMIM:249670
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Mental Retardation, X-Linked 91
Short nose, Small hand, Short foot, High palate, Short 5th finger, Macrodontia OMIM:300577
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Joint swelling, Enlar... ORPHA:1159
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Hypospadias, Depressed nasal ridge, Abnormal oral cavity morphology, An... ORPHA:1355
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmoni... ORPHA:3304
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Wide mouth, Dental malocclusion, Micrognathia, Antever... OMIM:612731
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip ... OMIM:313420
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis OMIM:612847
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Mandibu... ORPHA:1248
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies, Genu valgum OMIM:609324
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Digeorge Syndrome
Right aortic arch with mirror image branching, Short philtrum, Decreased circulating parathyroid ... OMIM:188400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atri... OMIM:156810
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short toe, Malar flatt... OMIM:613458
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Anteverted n... OMIM:618506
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Cryptorchidism, Narrow mouth, Patent ... OMIM:615502
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Avascular necrosis, Osteo... ORPHA:1345
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Short nose, Ventricular septal defect, Patent ductus... OMIM:613457
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Dental crowding, Ventricular sep... OMIM:617602
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Cryptorchidism, Depressed nasal tip, Midshaft hypospadias, Abnormality... ORPHA:2863
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Bulbous nose, Short nose, Ventricular septal defect, Micropenis, Aganglioni... OMIM:613870
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Thin vermilion border ORPHA:3303
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Nephropathy, Vascular dilatation, Dilatation of the cerebral artery, Renal cyst, Renal... OMIM:611773
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Czech Dysplasia
Scoliosis, Platyspondyly, Thoracic kyphosis, Flexion contracture, Irregular vertebral endplates, ... OMIM:609162
Bruck Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Wormian bones, Arthrogryposis multiplex congenita, Kyphos... ORPHA:2771
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Atrial septal defect, Truncus arteriosus, Narrow mouth, Underdeveloped nasal alae,... ORPHA:261330
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Tetralogy of Fallot OMIM:300887
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Short distal phalanx of finger, Vesicoureteral reflux, Hi... ORPHA:2059
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Platyspondyly, Camptodactyly of finger, Joint swelling, Enlarged interphalangeal jo... OMIM:208230
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Decreased calvarial ossification, Recurrent fr... OMIM:259440
Methimazole Embryofetopathy
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Choanal atresia, Esophagea... ORPHA:1923
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal renal morphology, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology,... ORPHA:477817
Pyle Disease
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density OMIM:265900
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Lim... ORPHA:93284
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral ref... OMIM:618454
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Non-Distal Trisomy 10Q
Convex nasal ridge, Cryptorchidism, Short nose, Everted lower lip vermilion, High palate, Microgn... ORPHA:1695
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... OMIM:600987
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Cleft lip, Cleft palate, Broa... ORPHA:398156
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Holzgreve Syndrome
Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, S... OMIM:617877
Autosomal Recessive Amelia
Cryptorchidism, Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft... ORPHA:1027
Ring Chromosome 8 Syndrome
Short nose, Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis, Anteverted nares ORPHA:1450
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Micrognathia, Depressed nasal bridge, Abnormality of the dentition, Ventricular septal defect OMIM:616901
Anauxetic Dysplasia 1
Cervical subluxation, Platyspondyly, Short neck, Delayed ossification of carpal bones OMIM:607095
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... OMIM:618142
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Mandibular prognathia, Ec... ORPHA:94066
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm OMIM:618496
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of penis, Hypospadias, Tetra... ORPHA:1381
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Patent ductus arteriosus, Thin lower lip vermilion, Micropenis, Unilateral renal a... ORPHA:363444
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Vesicoureteral reflux, Patent ... OMIM:601450
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Short nose, Abnormal aortic morphology, Patent ductus arte... ORPHA:251071
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... ORPHA:1426
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricu... OMIM:272440
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Vascular dilatation, Chronic kidney disease, Ren... OMIM:617056
Femoral-Facial Syndrome
Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Micrognathia, Micropenis, Long... OMIM:134780
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Vesicour... OMIM:617063
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Short nose, Dental crowding, Ventricular septal defect, Nata... OMIM:145420
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Bowing of limbs due to multip... OMIM:615220
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Pneumonia, Bronchitis, Thin ... OMIM:601005
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Bulbous nose, Pat... ORPHA:567
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation... OMIM:243150
Li-Campeau Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, P... OMIM:619189
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process ORPHA:85172
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
3C Syndrome
Intestinal malrotation, Oral cleft, High, narrow palate, Micrognathia, Depressed nasal bridge, Ab... ORPHA:7
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Vesi... OMIM:614261
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Bulbous nose, Smooth philtrum, Wide nasal bridge, Thin upper lip v... OMIM:301022
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Hydr... ORPHA:1926
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Perlman Syndrome
Cryptorchidism, Short nose, Open mouth, Hyperinsulinemia, Smooth philtrum, Wide nasal bridge, Abn... ORPHA:2849
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Oligodontia, Short philtrum, Downturned corners of m... ORPHA:217017
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Atrial septal defect, Open mouth, Dental crowding, Ventricular septal defect, Mic... OMIM:309520
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Livedo reticularis, Patent ductus arteriosus, Posterior cerebral art... OMIM:132900
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Cryptorchidism, Short nose, Dental crowding, Micropenis, Abnormality of the dentit... OMIM:616331
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Osteoporosis of vertebrae OMIM:156510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... OMIM:618395
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glos... OMIM:616145
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Narrow mouth, Short foot, Wide nasal bridge, Short metacarpal, Cleft palate, Short to... OMIM:614078
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth ORPHA:2370
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Joint laxity, Abnormal... ORPHA:93359
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners... ORPHA:2409
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad nasal tip, Short nose, Abnormality of the dentition, Mesomelia... OMIM:618529
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Mandibular progn... OMIM:248950
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618974
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Short palm, Ventricular septal defect ORPHA:79094
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Hypoplasia of the odontoid process, Phalangeal dislo... OMIM:264180
Maternal Phenylketonuria
Abnormal renal morphology, Ventricular septal defect, Abnormal heart morphology, Double outlet ri... ORPHA:2209
Xk Aprosencephaly Syndrome
Atrial septal defect, Narrow mouth, Ventricular septal defect, Abnormality of the nares, Anal atr... ORPHA:3469
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, Delayed puberty, Anemia, High palate, Micrognathia ORPHA:2598
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... OMIM:155050
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Short nose, Renal hypoplasia, Micropenis, S... ORPHA:171839
Endocardial Fibroelastosis
Cryptorchidism, Endocardial fibroelastosis, Abnormal palate morphology, Restrictive cardiomyopath... ORPHA:2022
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Truncus arteriosus, Horseshoe kidney, Ventricular septal defect, Microretrognathia... ORPHA:508498
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Thick vermilion border, Hypodontia, High palate, Micrognathia OMIM:617061
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Carious teeth, Narrow palate, Dental crowding, Natal tooth, Patent ductus arterio... ORPHA:353281
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Drooling, Open mouth, Enuresis, Broad nasal tip, Retrognathia, Malar flattening OMIM:613670
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:614886
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Hyp... OMIM:600123
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Ectopic anus,... ORPHA:2476
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Pineal cyst, Ventricular septal defect, Micrognathia, Tracheomalacia,... ORPHA:513456
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Ventricular septal defect, Renal h... ORPHA:2256
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Abnormality of ... ORPHA:75389
Fibromuscular Dysplasia, Arterial
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Micropenis, Deep philtrum, Short finger... OMIM:300209
Bruck Syndrome 2
Platyspondyly, Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractur... OMIM:609220
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Open mout... ORPHA:1600
Feingold Syndrome Type 2
Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect ORPHA:391646
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
1Q21.1 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:250994
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Convex nasal ridge, Abnormal heart morphology OMIM:600252
Verheij Syndrome
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Renal c... OMIM:615583
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Abnormal hip joint morphology, Biconcave vertebral bodies, Low... ORPHA:166011
Craniofacioskeletal Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal... OMIM:300712
3P25.3 Microdeletion Syndrome
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Mic... ORPHA:435638
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Reduced sperm motility OMIM:602271
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Transaldolase Deficiency
Thin vermilion border, Atrial septal defect, Short philtrum, Ventricular septal defect, Deep phil... OMIM:606003
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Central diabetes insipidus, Short nose, Wide nose OMIM:125700
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals, Irregular patellae, Flat acetabular ... OMIM:609052
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound o... OMIM:313400
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... ORPHA:261183
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arterio... ORPHA:861
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Short toe, Short nose, Micropenis, Everted lower lip vermi... OMIM:602342
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Intestinal malrotation, Rectovaginal fistula, Short thu... ORPHA:2538
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Dental malo... OMIM:613680
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose, Abnormal heart morphology DECIPHER:52
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation of aorta, ... ORPHA:101028
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Lujan-Fryns Syndrome
Short philtrum, Atrial septal defect, Dental crowding, Macroorchidism, Abnormality of the dentiti... ORPHA:776
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Depr... ORPHA:1906
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Downturned corners of mouth, Underdeveloped nasal alae, Choanal atresia, Wi... ORPHA:521308
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Thin vermilion border, Carious teeth, Short nose, Abnormal palate morphology, Dee... ORPHA:2701
20P12.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Hypoplasia of the maxilla, Wide nasal bridge, ... ORPHA:261295
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Autosomal Dominant Omodysplasia
Long philtrum, Cryptorchidism, Short nose, Rhizomelia, Short 1st metacarpal, Short humerus, Hypop... ORPHA:93328
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618652
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Convex nasal ridge, Ventricular septal defec... ORPHA:261190
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Focal segmental glomerulosclerosis, Smoot... OMIM:616730
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Abnormal urinary el... ORPHA:730
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Capitate-hamate fusion, ... OMIM:271650
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Prune Belly Syndrome
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Patent du... ORPHA:2970
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm, Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Hypoplastic right heart, Downturned corners of mouth, Patent ductus arteriosus, T... OMIM:616894
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Cervical kyphosis, Flat ... OMIM:256050
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Renal... ORPHA:84064
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Micrognathia, Prominent nasal bridge... OMIM:130090
Robinow Syndrome
Cryptorchidism, Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Mi... ORPHA:97360
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology OMIM:613390
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of ... ORPHA:2184
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Abnormal at... ORPHA:244
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hydroureter, Patent ductus arteriosus, Hypoplasia of penis, Micrognathia, Duodenal st... ORPHA:2547
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Baraitser-Winter Syndrome 1
Long philtrum, Cryptorchidism, Short nose, Micropenis, Patent ductus arteriosus, Wide mouth, Wide... OMIM:243310
Alzahrani-Kuwahara Syndrome
Long philtrum, Atrial septal defect, Bulbous nose, Ventricular septal defect, Pulmonary artery sl... OMIM:619268
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Distal Trisomy 5Q
Long philtrum, Thin vermilion border, Carious teeth, Hypoplasia of the radius, Narrow mouth, Shor... ORPHA:96097
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morph... ORPHA:83473
Even-Plus Syndrome
Atrial septal defect, Short nose, Renal hypoplasia, Hypodontia, Anal atresia, Vesicoureteral refl... OMIM:616854
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula,... ORPHA:52056
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Intestinal malrotation, Bilateral cleft lip and palate, Patent ductus... ORPHA:2001
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Fetal Alcohol Syndrome
Atrial septal defect, Short nose, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilio... ORPHA:1915
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Micropenis OMIM:617925
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Recombinant 8 Syndrome
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Pat... ORPHA:96167
Char Syndrome
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... ORPHA:46627
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Short nose, Downturned corners of mouth, Laryngeal hypoplasia, Pierre-Robin seque... OMIM:217980
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Dental crowding, Natal tooth, Pat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Dental crowding, Natal tooth, Pat... ORPHA:353277
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:276422
Chung-Jansen Syndrome
Long philtrum, Short philtrum, Thin vermilion border, Cryptorchidism, Short nose, High palate, Mi... OMIM:617991
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... ORPHA:488618
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Mandibular prognathia, Wide mouth, Wide nasal bridge, Thin u... OMIM:249630
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Hashimoto thyroiditis, Pulmonic st... OMIM:618223
German Syndrome
Cryptorchidism, Open mouth, Everted lower lip vermilion, Wide nasal bridge, Oral cleft, Tetralogy... ORPHA:2077
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Thick vermilion border, Pulmonic stenosis, Depressed nasal br... OMIM:618499
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Shashi-Pena Syndrome
Retrognathia, Atrial septal defect, Broad nasal tip OMIM:617190
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Acromicric Dysplasia
Long philtrum, Narrow mouth, Bulbous nose, Short nose, Small hand, Short metacarpal, Thick lower ... ORPHA:969
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Everted lower lip vermilion, Mandibular prognathia, Wide mouth, Thin ... ORPHA:2429
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Short philtrum, Atrial septal defect, Narrow mouth, Abnormal heart morphology, Wi... ORPHA:352490
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Pentasomy X
Patent ductus arteriosus, Wide nasal bridge, Small hand, Delayed puberty, Short foot, Abnormal ca... ORPHA:11
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Lumbar hyperlord... OMIM:602557
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Everted ... OMIM:137550
Diprosopus
Abnormal cardiac septum morphology, Abnormality of the nose, Non-midline cleft lip, Cleft palate ORPHA:1681
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Narrow mouth, Choanal stenosis, Short nose, Laryngeal hypoplasia, Patent du... ORPHA:1790
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates, Delayed skeletal... OMIM:234250
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Non-midline ... ORPHA:1908
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Everted lower lip vermilion, Wide nasal bridg... OMIM:616920
Coffin-Siris Syndrome 5
Short philtrum, Atrial septal defect, Wide mouth, Thick nasal alae, Short distal phalanx of finge... OMIM:616938
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Short nose, Abnormal heart morphology, Everted lower l... OMIM:615873
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Kleefstra Syndrome
Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Vesicoureteral reflux, Pulmon... ORPHA:261494
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Wormian bones, Joint hypermobility, Osteoporosis, Dislocated radial hea... OMIM:614856
Chromosome 9P Deletion Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Micropenis, Patent ... OMIM:158170
Stickler Syndrome Type 1
Long philtrum, Short nose, Cleft palate, Mitral valve prolapse, Hypoplasia of the maxilla ORPHA:90653
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Beaking of vertebral bodies, Patent ductus arteriosus, Thoracic platyspondy... OMIM:618961
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Mental Retardation, Autosomal Recessive 65
Cryptorchidism, Thin vermilion border, Atrial septal defect, Bulbous nose, Hypospadias, Prominent... OMIM:618109
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Osteoporosis, Recurrent fractures, Osteopenia OMIM:126550
C Syndrome
Cryptorchidism, Short nose, Renal cortical cysts, Ventricular septal defect, Micromelia, Patent d... OMIM:211750
Beta-Mercaptolactate Cysteine Disulfiduria
Convex nasal ridge, Atrial septal defect, Abnormality of the ureter, High palate, Anteverted nare... ORPHA:1035
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Diamond-Blackfan Anemia 10
Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Reticulocytopenia, Ectopic ... OMIM:613309
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Long philtrum, Short 5th finger, Atrial septal defect, Bulbous nose, Downturned corners of mouth,... OMIM:220500
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Short nose, Thin upper lip vermilion, High palate, Anteverted nares OMIM:300558
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge,... OMIM:314320
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Aminoaciduria OMIM:250620
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Natal tooth, Patent ductus arteriosus, Choanal atresia, Decreased te... OMIM:146510
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus, Polycystic ki... OMIM:214110
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Atrial septal defect, Broad nasal tip, Downturned corners of mouth, Ventricular s... ORPHA:457193
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Shor... ORPHA:85202
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Frontoocular Syndrome
Atrial septal defect, Narrow mouth, Pulmonic stenosis, Narrow philtrum, High palate, Micrognathia... OMIM:605321
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short nose, Cleft palate, Micrognathia, Malar flattening, Accessory oral fr... ORPHA:79113
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Limb undergrowth, Depressed nasal ridge, Hepatosplenomegaly ORPHA:221054
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge ORPHA:438178
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Short thumb, Coarctation of aorta, Pulmonary ... ORPHA:2876
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Micrognathia, Anteverted nares, Depress... OMIM:614744
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low ha... OMIM:615236
Hardikar Syndrome
Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Intestinal malrotation, Cleft p... OMIM:612726
17P13.3 Microduplication Syndrome
Narrow mouth, Short nose, Hypoplasia of penis, High palate, Wide nose ORPHA:217385
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Abruzzo-Erickson Syndrome
Cryptorchidism, Atrial septal defect, Abnormal palate morphology, Cleft palate, Coronal hypospadi... ORPHA:921
Roifman Syndrome
Long philtrum, Short toe, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular ... OMIM:616651
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Short nose, Downturned corners of mouth, Open mouth, Restrictive cardiomyopathy, D... OMIM:615398
Brachyolmia Type 3
Scoliosis, Platyspondyly, Kyphosis, Short neck OMIM:113500
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Elbow flexion contracture, Hip contracture, Delayed epiphyseal ossification OMIM:601561
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, Maternal diabetes, Short nose, Hypothyroidism, Choanal atresi... ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding ton... OMIM:612938
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Rhizomelia, Stage 1 chronic kidney disease, Smooth philtrum, Laryngomalacia, Wide ... OMIM:618821
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Short nose, Ventricular septal defect, Deep philtrum, Choanal atresia, Esop... OMIM:610536
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Short nose, Ventricular septal defect, Pleural effusion, Micropenis, Limb undergrowt... OMIM:616897
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Atrial septal defect, Narrow mouth, Bulbous nose, Ventricular septal defe... OMIM:614114
Kagami-Ogata Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the maxilla, Patent... OMIM:608149
Distal Trisomy 18Q
Cryptorchidism, Carious teeth, Short nose, Abnormality of dental morphology, Choanal atresia, Hyp... ORPHA:1716
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Micromelia, Patent ductus arteriosus, Dentinogenesis imper... ORPHA:166272
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Downturned corners of mouth, Open mouth, Abnormal heart mo... ORPHA:391372
Ohdo Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Hypoplasia of teeth, Narrow mouth, Short no... OMIM:249620
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Cervical ky... OMIM:245160
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... OMIM:609616
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Crossed fused renal ectopia, Abnormality of the philt... ORPHA:2919
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Vertebral compression fracture, Osteoporosis OMIM:616507
Suleiman-El-Hattab Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Drooling, Downturned corners of mouth, Ventr... OMIM:618950
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly ORPHA:71267
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductu... ORPHA:314588
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Wide nasal bridge, Large beaked nose, Broad secondary alveolar ridge, ... ORPHA:3369
Pseudoachondroplasia
Scoliosis, Platyspondyly, Limited elbow extension, Irregular carpal bones, Genu valgum, Joint lax... OMIM:177170
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... ORPHA:2078
Lessel-Kreienkamp Syndrome
Atrial septal defect, Open mouth, Patent ductus arteriosus, Wide nasal bridge, Thin upper lip ver... OMIM:619149
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome