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Gene: Chtop MGI:1913761

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Gene Summary

Name:
chromatin target of PRMT1
Synonyms:
2500003M10Rik,  friend of Prmt1,  Fop

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal joint morphology Chtoptm1a(EUCOMM)Wtsi HET   Early adult 1.64×10-07
preweaning lethality, complete penetrance Chtoptm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

13 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI
Chtoptm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 132 images

Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 6 images

Chtoptm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
fused cornea and lens, HET, Male, WTSI
Chtoptm1a(EUCOMM)Wtsi
polydactylous syndactyly, HET, Male, WTSI

Human diseases caused by Chtop 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloarthropathy, Susceptibility To, 2
Abnormal joint morphology OMIM:183840
Coracoclavicular Joint, Anomalous
Abnormal joint morphology OMIM:121350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Generalized joint laxity, Tetralogy of Fallot, Ventricular septal defect, Atriov... ORPHA:508498
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Asplenia, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septa... OMIM:265380
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Coarctation of aorta, Short distal phala... ORPHA:1120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Tooth agenesis, Joint stiffness, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1166
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Inguinal hernia, Cleft palate, Cryptorchidism, Short neck, In... ORPHA:2311
Emanuel Syndrome
Scoliosis, Inguinal hernia, Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial sep... ORPHA:96170
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Asplenia, Ventricular septal defect, Hypoplastic aortic arch, Left superi... OMIM:306955
Microphthalmia, Syndromic 9
Inguinal hernia, Right aortic arch with mirror image branching, Tetralogy of Fallot, Ventricular ... OMIM:601186
Mosaic Trisomy 9
Camptodactyly of finger, Scoliosis, Hip dislocation, Asplenia, Ventricular septal defect, Atrial ... ORPHA:99776
Emanuel Syndrome
Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Cleft palate, Ventri... OMIM:609029
8Q24.3 Microdeletion Syndrome
Inguinal hernia, Abnormality of the kidney, Ventricular septal defect, Hypoplastic aortic arch, A... ORPHA:508488
3C Syndrome
Scoliosis, Inguinal hernia, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defec... ORPHA:7
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cle... OMIM:220210
Verheij Syndrome
Scoliosis, Hip dislocation, Ventricular septal defect, Optic nerve hypoplasia, Cleft palate, Shor... OMIM:615583
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Inguinal hernia, Ascending aorta hypoplasia, Hypoplastic left heart, Hemolytic anemia, Ventricula... OMIM:619503
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Inguinal hernia, Generalized joint laxity, Atrial septal defect, Abnormality of the te... ORPHA:536471
Femoral-Facial Syndrome
Maternal diabetes, Polycystic kidney dysplasia, Scoliosis, Inguinal hernia, Abnormal renal collec... OMIM:134780
Holt-Oram Syndrome
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricu... ORPHA:392
Fanconi Anemia
Abnormal renal morphology, Scoliosis, Aplasia/Hypoplasia of the uvula, Hip dislocation, Tetralogy... ORPHA:84
Fg Syndrome Type 1
Inguinal hernia, Generalized joint laxity, Atrial septal defect, Small pituitary gland, Optic ner... ORPHA:93932
Williams Syndrome
Stroke, Inguinal hernia, Recurrent urinary tract infections, Recurrent respiratory infections, Mi... ORPHA:904
1P36 Deletion Syndrome
Camptodactyly of finger, Scoliosis, Abnormality of the kidney, Tetralogy of Fallot, Abnormal eyeb... ORPHA:1606
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Joint stiffness, Short neck, Ventricular septal defect, Renal hyp... ORPHA:2516
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Atria... ORPHA:2970
Fryns Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Ventriculomegaly, Abnormal aor... ORPHA:2059
Lateral Meningocele Syndrome
Inguinal hernia, Scoliosis, Ventricular septal defect, Cleft palate, Smooth philtrum, Keloids, Cr... OMIM:130720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Ventricular septal defect, Flexion contracture of finger, Ventriculomegaly, Short toe,... ORPHA:464311
Pallister-Hall Syndrome
Hypopituitarism, Inguinal hernia, Hip dislocation, Bifid uvula, Ventricular septal defect, Atrial... ORPHA:672
22Q11.2 Deletion Syndrome
Polycystic kidney dysplasia, Abnormal pulmonary valve morphology, Scoliosis, Inguinal hernia, Ate... ORPHA:567
Craniofaciofrontodigital Syndrome
Stroke, Scoliosis, Ventricular septal defect, Atrial septal defect, Prominent median palatal raph... ORPHA:363705
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Papilledema, Hirsutism, Increased susceptibility... ORPHA:371428
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Bifid uvula, Tetralogy of Fallo... OMIM:607872
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Hepatomegaly, Optic nerve hypoplasia, Ventriculomegaly, Hirsutism, Hyd... OMIM:301056
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Inguinal hernia, Scoliosis, Cleft palate, Multiple pterygia, Morphologic... ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Scoliosis, Inguinal hernia, Atrial septal defect, Thick eyebrow, Cleft palate, Highly arched eyeb... OMIM:213980
Pallister-Hall Syndrome
Hip dislocation, Ventricular septal defect, Hydroureter, Cleft palate, Microglossia, Radial head ... OMIM:146510
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Ventricular septal defect, Ventriculomegaly, Acromesomelia, Pelvic kidney, Anterior pi... ORPHA:464306
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Pathologic fracture, Abnormal salivary gland morphology, Chr... ORPHA:314652
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Anal atresia, Abnormal cranial nerve morphology, Short nec... ORPHA:2345
Holoprosencephaly
Abnormal pulmonary valve morphology, Scoliosis, Aplasia/Hypoplasia of the lungs, Tooth agenesis, ... ORPHA:2162
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Camptodactyly of finger, Asplenia, Occipital encephalocele, Cleft pa... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Scoliosis, Prominent metopic ridge, Bifid uvula, Ventricular septal defect, Atrial s... ORPHA:453499
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Cryptorchidism, Retrognathia, Micropenis, Short thumb, Ventricula... OMIM:617516
Recombinant Chromosome 8 Syndrome
Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Ventriculomegaly... OMIM:179613
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal d... ORPHA:329224
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Cryptorchidism, Short thumb, Ventricular septal defect, Atrial septal d... ORPHA:401935
Kleefstra Syndrome
Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly, Highly arched eyebro... ORPHA:261494
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Ventricular septal defect, Hypoplastic ao... ORPHA:860
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Scoliosis, Abnormal pulmonary valve morphology, Inguinal hernia, Short d... ORPHA:1507
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Scoliosis, Ventricular septal defect, Atrial septal defect, Thin vermili... OMIM:617602
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Scoliosis, Ventricular septal defect, Atrial septal defect, Horseshoe kidney, Protei... OMIM:235510
Williams-Beuren Syndrome
Stroke, Abnormal renal morphology, Inguinal hernia, Nephrocalcinosis, Ventricular septal defect, ... OMIM:194050
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Renal duplication, Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Jo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Renal duplication, Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Jo... ORPHA:363958
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Ventricular septal defect, Atrial septal defect, Complete atrioventr... OMIM:264480
Opitz Gbbb Syndrome
Inguinal hernia, Prominent metopic ridge, Ventricular septal defect, Atrial septal defect, Ankylo... ORPHA:2745
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Craniosynostosis, Hydronephrosis, Anal atresia, Vesicoureteral reflux, Hypoplasia of the bladder,... OMIM:300707
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Cleft upper lip, Hydronephrosis, Pulmonary hypoplasia, Aplasia o... OMIM:308050
Scimitar Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Left superior vena cava draini... ORPHA:185
Congenital Alveolar Capillary Dysplasia
Hypoplastic left heart, Asplenia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal d... ORPHA:210122
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Vertebral fusion, Hypoplastic... OMIM:618845
Meacham Syndrome
Hypoplastic left heart, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial... OMIM:608978
Thanatophoric Dysplasia Type 2
Encephalocele, Increased nuchal translucency, Aplasia/Hypoplasia of the lungs, Abnormality of the... ORPHA:93274
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect, Abnormality of t... ORPHA:79345
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Spondylolisthesis, Short toe, Short 5th metacarpal, 11 ... OMIM:617877
Chops Syndrome
Ventricular septal defect, Horseshoe kidney, Thick eyebrow, Patent foramen ovale, Cryptorchidism,... OMIM:616368
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Highly arched ey... OMIM:618316
Bannayan-Riley-Ruvalcaba Syndrome
Scoliosis, Intracranial hemorrhage, Narrow palate, Angina pectoris, Delayed skeletal maturation, ... ORPHA:109
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Secundum atrial septal defect, Cardiac arrest, Inguinal hernia, Bidirecti... OMIM:619534
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Scoliosis, Hypoplastic left heart, Facial hypertrichosis, Ventricular septal ... OMIM:180849
Treacher-Collins Syndrome
Tooth agenesis, Cleft palate, Absent eyelashes, Narrow mouth, Rectovaginal fistula, Cleft upper l... ORPHA:861
Koolen-De Vries Syndrome
Scoliosis, Hip dislocation, Prominent metopic ridge, Ventricular septal defect, Atrial septal def... OMIM:610443
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Scoliosis, Unilateral vertebral artery hypoplasia, Aplasia of posterior c... OMIM:613686
Lowry-Maclean Syndrome
Inguinal hernia, Atrioventricular canal defect, Cleft palate, Abnormality of the abdominal organs... ORPHA:2409
15Q24 Microdeletion Syndrome
Scoliosis, Abnormal heart morphology, High anterior hairline, Narrow mouth, Intestinal atresia, S... ORPHA:94065
Fanconi Anemia, Complementation Group F
Short thumb, Atrial septal defect, Hypoplasia of the radius, Pelvic kidney, Cryptorchidism, Leuko... OMIM:603467
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Open mouth, Scoliosis, Cryptorchidism, Ventricular septal defect, Diabetes mellitus, Umbilical he... ORPHA:500159
Adams-Oliver Syndrome
Encephalocele, Pulmonary artery atresia, Abnormal pulmonary valve morphology, Absent hand, Leukop... ORPHA:974
Cat Eye Syndrome
Rectal fistula, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial se... OMIM:115470
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Atelectasis, Median cleft lip and palate, Ventricular septal defect, Hypoplastic... OMIM:269860
Familial Multiple Nevi Flammei
Venous insufficiency, Scoliosis, Abnormal cranial nerve morphology, Edema, Arteriovenous malforma... ORPHA:624
Partial Atrioventricular Septal Defect
Hypoplastic left heart, Tetralogy of Fallot, Bacterial endocarditis, Transient ischemic attack, A... ORPHA:1330
Hardikar Syndrome
Ventricular septal defect, Atrial septal defect, Cholestasis, Hydroureter, Unilateral cleft lip, ... OMIM:301068
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Delayed puberty, Scoliosis, Secundum atrial septal defect, Righ... OMIM:214800
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cleft palate, Narrow mouth, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Abnormal lung lob... ORPHA:2166
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Atrial situs ambiguous, Chronic sinus... ORPHA:244
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, Camptodactyly of finger, Anal atresia, Cryptorchidism, High palate, ... ORPHA:2863
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Inguinal hernia, Hip dislocation, Atrial septal defect, Rhizomelia, Shoulder dislocati... OMIM:245600
Triploidy
Hepatomegaly, Cleft palate, Narrow mouth, Decreased skull ossification, Cryptorchidism, Iris colo... ORPHA:3376
8P23.1 Microdeletion Syndrome
High palate, Cryptorchidism, Enlarged thorax, Hypoplastic left heart, Short neck, Tetralogy of Fa... ORPHA:251071
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hydrocephalus, S... OMIM:613001
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Cleft palate, Double outlet right ventr... OMIM:231060
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Scoliosis, Inguinal hernia, Enlarged kidney, Six lumbar vertebrae... OMIM:312870
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Scoliosis, Morphological abnormality of the gastrointestinal tra... ORPHA:1834
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Scoliosis, Prominent metopic ridge, Tooth agenesis, Bifid uvula, Ventricular septal defect, Atria... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Scoliosis, Prominent metopic ridge, Tooth agenesis, Bifid uvula, Ventricular septal defect, Atria... ORPHA:352665
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Inguinal hernia, Ventricular septal defect, Cleft palate, Ventriculomegaly, Highly arc... OMIM:618454
Hadziselimovic Syndrome
Pulmonary artery atresia, Anal atresia, High palate, Ventricular septal defect, Tetralogy of Fall... OMIM:612946
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Widely spaced teeth, Hyperplasia of the maxilla, Cl... OMIM:617616
Trisomy 1Q
Camptodactyly of finger, Ventricular septal defect, Cleft palate, Ventriculomegaly, Narrow mouth,... ORPHA:261344
Contractural Arachnodactyly, Congenital
Scoliosis, Ventricular septal defect, Atrial septal defect, Patellar dislocation, Congenital fing... OMIM:121050
Intellectual Developmental Disorder, Autosomal Dominant 48
Open mouth, Scoliosis, Ventricular septal defect, Synophrys, Umbilical hernia, Tracheobronchomala... OMIM:617751
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Ventricular septal defect, Cleft palate, Thoracic scoli... ORPHA:1692
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Atrial septal defect, Hypoplastic nipples, Ankyloglossia, Prolonged neonatal jaundic... OMIM:620186
Iniencephaly
Rhizomelia, Narrow mouth, Absent vertebra, Spina bifida, Hydrocephalus, Mandibular aplasia, Hyper... ORPHA:63259
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Cryptorchidism, Edema, Short neck, Cholestasis, Anemia, Protein-losing enteropathy... OMIM:608104
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Prominent metopic ridge, Hip dislocation, Short thumb, Long clavicle... OMIM:210710
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Perimembranous ventricular sep... ORPHA:363444
Loeys-Dietz Syndrome 4
Scoliosis, Broad uvula, Inguinal hernia, Bifid uvula, Arterial tortuosity, Spondylolisthesis, Pne... OMIM:614816
Smith-Lemli-Opitz Syndrome
Scoliosis, Hip dislocation, Tooth agenesis, Ventricular septal defect, Atrial septal defect, Atri... ORPHA:818
Desmosterolosis
Bifid uvula, Cleft palate, Ventriculomegaly, Narrow mouth, Micromelia, Severe short stature, Hydr... ORPHA:35107
Zttk Syndrome
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Horseshoe kidney, Ventri... OMIM:617140
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Tooth malposition, Short distal phalanx of finger, Ventricul... ORPHA:97360
Distal Deletion 13Q
Encephalocele, Anal atresia, Iris coloboma, Renal hypoplasia/aplasia, Holoprosencephaly, Optic at... ORPHA:1590
Kabuki Syndrome
Scoliosis, Hip dislocation, Abnormal form of the vertebral bodies, Ureteropelvic junction obstruc... ORPHA:2322
Basal Cell Nevus Syndrome 1
Scoliosis, Odontogenic keratocysts of the jaw, Vertebral wedging, Cleft palate, Sprengel anomaly,... OMIM:109400
Aicardi Syndrome
Scoliosis, Cleft palate, Supernumerary ribs, Cleft upper lip, Spina bifida, Sparse lateral eyebro... OMIM:304050
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Ventriculomegaly, Thin vermilio... ORPHA:96121
Charge Syndrome
Delayed puberty, Abnormal soft palate morphology, Scoliosis, Tetralogy of Fallot, Horseshoe kidne... ORPHA:138
Down Syndrome
Acute megakaryocytic leukemia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defe... OMIM:190685
Hajdu-Cheney Syndrome
Delayed puberty, Short distal phalanx of finger, Scoliosis, Inguinal hernia, Ventricular septal d... ORPHA:955
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... ORPHA:90308
Baraitser-Winter Syndrome 1
Cryptorchidism, Retrognathia, Iris coloboma, Micropenis, Short neck, Low posterior hairline, Shor... OMIM:243310
Heterotaxy, Visceral, 4, Autosomal
Midline liver, Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defe... OMIM:613751
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Occipital encephalocele, Cleft palate, Multicystic kidney dyspla... ORPHA:887
Sotos Syndrome
Scoliosis, Abnormality of the kidney, Ventricular septal defect, Atrial septal defect, Narrow jaw... OMIM:117550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Inguinal hernia, Widely spaced teeth, Abnormal heart morphology, Ventriculomegaly, Hig... ORPHA:487796
Cardioacrofacial Dysplasia 2
Conical tooth, Long thorax, Limb undergrowth, Left superior vena cava draining to coronary sinus,... OMIM:619143
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal renal morphology, Ventricular septal defect, Aortic aneurysm, Distal amyotrophy, Atrial ... ORPHA:477817
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Achilles tendon contracture, Highly arched eyebrow, Hypothyroidism, Congeni... ORPHA:363528
Femoral-Facial Syndrome
Maternal diabetes, Polycystic kidney dysplasia, Scoliosis, Inguinal hernia, Cleft palate, Ventric... ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Cleft palate, Giant platelets, Narrow mouth, Thoracic scoliosis, Smooth philtrum, Kyp... OMIM:611209
Mowat-Wilson Syndrome
Scoliosis, Abnormality of the kidney, Renal duplication, Bifid uvula, Tetralogy of Fallot, Asplen... ORPHA:2152
Right Atrial Isomerism
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Inguinal hernia, Pulmonic stenosi... OMIM:208530
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, High palate, Scoliosis, Cryptorchidism, Anteriorly placed anus, Inguinal hernia, ... OMIM:618653
Cantu Syndrome
Short hallux, Cuboid-shaped vertebral bodies, Delayed skeletal maturation, Thick lower lip vermil... OMIM:239850
Ogden Syndrome
Maternal diabetes, Secundum atrial septal defect, Scoliosis, Polycystic kidney dysplasia, Inguina... OMIM:300855
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Scoliosis, Renal duplication, Tooth malposition, Bifid uvula... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal jaw morphology, Abnormal pulmonary valve morphology, Scoliosis, Renal duplication, Tooth... ORPHA:261552
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Synophrys, Abnormal heart mor... ORPHA:284169
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Mucopolysacchariduria, Scoliosis, Enlarged thorax, Inguinal her... ORPHA:584
Duane-Radial Ray Syndrome
Scoliosis, Short thumb, Ventricular septal defect, Atrial septal defect, Horseshoe kidney, Aplasi... OMIM:607323
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Aicardi Syndrome
Delayed puberty, Scoliosis, Malabsorption, Cleft palate, Ventriculomegaly, Supernumerary ribs, Mu... ORPHA:50
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, Tetralogy of ... ORPHA:1908
Microform Holoprosencephaly
Maternal diabetes, Cyclopia, Scoliosis, Iris coloboma, Duodenal atresia, Tetralogy of Fallot, Hol... ORPHA:280200
Koolen-De Vries Syndrome
Scoliosis, Hip dislocation, Renal duplication, Cleft palate, Ventriculomegaly, Narrow palate, Hyp... ORPHA:96169
Alg12-Cdg
Scoliosis, Ventriculomegaly, Muscular ventricular septal defect, B lymphocytopenia, Patent forame... ORPHA:79324
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Reduced circulating growth hormone concentration, Right aortic arch, Elevated circulating follicl... OMIM:300845
Fanconi Anemia, Complementation Group D2
Renal duplication, Short thumb, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, P... OMIM:227646
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
High palate, Gastroesophageal reflux, Atrial septal defect, Aortic aneurysm, Limb hypertonia, Pol... OMIM:620070
Distal Deletion 10Q
Prominent metopic ridge, Hip dislocation, Atrial septal defect, Horseshoe kidney, Short metatarsa... ORPHA:96148
Sweeney-Cox Syndrome
Short distal phalanx of finger, Prominent metopic ridge, Asplenia, Narrow mouth, Bilateral crypto... OMIM:617746
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Prominent metopic ridge, Abnormal renal collecting system morphology, Op... ORPHA:468631
Arterial Tortuosity Syndrome
Scoliosis, Inguinal hernia, Bifid uvula, Ventricular hypertrophy, Aortic root aneurysm, Generaliz... OMIM:208050
Fontaine Progeroid Syndrome
Oligodontia, Scoliosis, Short distal phalanx of finger, Hypoplasia of the abdominal wall musculat... OMIM:612289
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular ap... OMIM:300373
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Arteriovenous malformation, Abnormality of the vertebral column, Bone ... ORPHA:53721
Peters Plus Syndrome
Inguinal hernia, Renal duplication, Hypoplastic left heart, Widely spaced teeth, Rhizomelia, Clef... ORPHA:709
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Inguinal hernia, Short distal phalanx of finger, Ventricular septal defe... ORPHA:261330
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Nail dystrophy, Atrial septal defect, Tetralogy of Fallot, Optic... OMIM:300887
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Narrow mouth, Patent forame... OMIM:612582
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Thoracic aortic aneurysm... OMIM:619657
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Cryptorchidism, Iris coloboma, Ventricular septal defect, Hydrocephalus, Agen... ORPHA:77298
Focal Dermal Hypoplasia
Camptodactyly of finger, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Tooth agene... ORPHA:2092
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Inguinal hernia, Ventricular septal defect, Hypoplastic nipples, Widel... OMIM:122470
Smith-Lemli-Opitz Syndrome
Hip dislocation, Bifid uvula, Ventricular septal defect, Atrial septal defect, Short thumb, Urete... OMIM:270400
Heterotaxy, Visceral, 5, Autosomal
Double inlet left ventricle, Asplenia, Ventricular septal defect, Atrial septal defect, Atriovent... OMIM:270100
Miller-Dieker Lissencephaly Syndrome
Camptodactyly, Cryptorchidism, Inguinal hernia, Duodenal atresia, Polyhydramnios, Sacral dimple, ... OMIM:247200
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Scoliosis, Joint stiffness, Arteriovenous malformation, Kyphosi... ORPHA:702
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Pulmonary artery atresia, Coarctation of aorta, Hypoplastic lef... ORPHA:3426
Cardiospondylocarpofacial Syndrome
Scoliosis, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect, Horseshoe ki... OMIM:157800
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Arteriovenous malformation, Mandibular prognathia, Intrauterine growth retardation, A... ORPHA:1110
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Scoliosis, Abnormality of the kidney, Short thumb, Atrial septal... ORPHA:280
Acrocardiofacial Syndrome
Anal atresia, Cryptorchidism, Coarctation of aorta, Camptodactyly of finger, Long eyelashes, Tetr... ORPHA:2008
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Cleft palate, Ve... ORPHA:1052
Pentalogy Of Cantrell
Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Polysplenia, Cle... ORPHA:1335
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Anal atresia, Dextrocardia, Absent radius, Enlarged kidney, H... OMIM:314390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Atrial septal defect, Hydroureter, Ventriculomegaly,... ORPHA:280633
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Tracheomalacia, Coarctation of aorta, Iris coloboma, Ventricular septal... ORPHA:268249
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Cryptorchidism, Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, ... ORPHA:261102
Meacham Syndrome
Conotruncal defect, Situs inversus totalis, Aplasia/Hypoplasia of the lungs, Cryptorchidism, Coar... ORPHA:3097
Axial Spondylometaphyseal Dysplasia
Scoliosis, Acromesomelia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Flat acetabula... ORPHA:168549
Monosomy 18Q
Secundum atrial septal defect, Dysplastic pulmonary valve, Atlantoaxial abnormality, Bilateral cr... ORPHA:1600
Cardiac Diverticulum
Abnormality of the diaphragm, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defec... ORPHA:1686
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Scoliosis, Inguinal hernia, Mucoid extracellular matrix accumulation, Descending thoracic... ORPHA:91387
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Tetralogy of Fallot, Diabetes mellitus, Ventricular septal defect, Atrial septal... OMIM:600001
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Scoliosis, Hypoplastic left heart, Atrial septal defect, Abnormality of the ovar... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Scoliosis, Hypoplastic left heart, Atrial septal defect, Abnormality of the ovar... ORPHA:99228
Monosomy X
Delayed puberty, Scoliosis, Hypoplastic left heart, Atrial septal defect, Abnormality of the ovar... ORPHA:99226
Turner Syndrome
Delayed puberty, Scoliosis, Hypoplastic left heart, Atrial septal defect, Abnormality of the ovar... ORPHA:881
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Prolonged neonatal jaundice, Optic nerve hypoplasia, Delayed proximal femoral ep... ORPHA:226307
Chromosome 9P Deletion Syndrome
Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Perimembranous ventr... OMIM:158170
Diamond-Blackfan Anemia 1
Short thumb, Ventricular septal defect, Atrial septal defect, Hypoplastic sacral vertebrae, Retic... OMIM:105650
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Asplenia, Atrial septal defect, Cholestasis,... OMIM:208540
Diabetic Embryopathy
Hydronephrosis, Abnormal sacrum morphology, Cryptorchidism, Aplasia/Hypoplasia of the abdominal w... ORPHA:1926
Microphthalmia, Syndromic 3
Ventricular septal defect, Optic nerve hypoplasia, Supernumerary ribs, Vertebral hypoplasia, Ante... OMIM:206900
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Oligodontia, Scoliosis, Enlarged kidney, Atrial septal defect, Ankyloglossia, ... OMIM:615873
Coffin-Siris Syndrome 3
Scoliosis, Inguinal hernia, Thick eyebrow, Abnormal heart morphology, Cleft palate, Hirsutism, Sh... OMIM:614608
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Gastroesophageal reflux, Coarctation of aorta, Ventricular septal ... OMIM:600987
Snijders Blok-Campeau Syndrome
High palate, Scoliosis, Inguinal hernia, Pulmonic stenosis, Atrial septal defect, Umbilical herni... OMIM:618205
Zaki Syndrome
Hydronephrosis, High palate, Scoliosis, Median pseudocleft lip, Sacral dimple, Short stature, Mic... OMIM:619648
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Hip dislocation, Generalized joint laxity, Widened atrophic scar, Thoracic kypho... ORPHA:1900
Distal Monosomy 7Q36
Pectus excavatum, Cryptorchidism, Short neck, Holoprosencephaly, Short stature, Cleft palate, Hyp... ORPHA:1636
Hennekam Syndrome
Camptodactyly of finger, Tooth agenesis, Malabsorption, Horseshoe kidney, Narrow mouth, Supernume... ORPHA:2136
Fryns Syndrome
Short distal phalanx of finger, Short thumb, Ventricular septal defect, Atrial septal defect, Thi... OMIM:229850
Classical Ehlers-Danlos Syndrome
Scoliosis, Inguinal hernia, Generalized joint laxity, Hip dislocation, Abnormality of the temporo... ORPHA:287
Distal Deletion 15Q
Short distal phalanx of finger, Hip dislocation, Hypoplastic left heart, Generalized joint laxity... ORPHA:1596
2Q37 Microdeletion Syndrome
Tracheomalacia, Pyloric stenosis, Short neck, Supernumerary nipple, Umbilical hernia, Short metac... ORPHA:1001
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Scoliosis, Antenatal intracerebral hemorrhage, Hip dislocation, Shoulder disloca... ORPHA:536545
Schuurs-Hoeijmakers Syndrome
Cryptorchidism, Long eyelashes, Diastema, Synophrys, Volvulus, Low anterior hairline, Bicuspid ao... OMIM:615009
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Gastroesophageal reflux, Dextrocardia, Pyloric stenosis, Atrial sept... ORPHA:261197
Chromosome 1Q41-Q42 Deletion Syndrome
Scoliosis, Ventricular septal defect, Widely spaced teeth, Cleft palate, Ventriculomegaly, Sparse... OMIM:612530
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Anal atresia, Cryptorchidism, Gastroesophageal reflux, High palate, Re... OMIM:613792
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Ventriculomegaly, Narrow mouth, Sparse eyebrow, Smooth philtrum, Broad phil... OMIM:619720
Classic Homocystinuria
Scoliosis, Intracranial hemorrhage, Hepatomegaly, Sparse scalp hair, Osteoporosis, Hypertension, ... ORPHA:394
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Right aortic arch, Cleft palate, Bilateral cryptorchidism, Delayed skeletal matu... ORPHA:2326
Distal Triplication 15Q
Polycystic kidney dysplasia, Scoliosis, Abnormality of the kidney, Atrial septal defect, Hypoplas... ORPHA:314588
Parkes Weber Syndrome
Urinary retention, Vascular tortuosity, Abnormal bleeding, Venous malformation, Cerebral arteriov... ORPHA:90307
White-Sutton Syndrome
Bifid uvula, Atrial septal defect, Optic nerve hypoplasia, Cleft palate, Thin vermilion border, P... OMIM:616364
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Bifid uvula, Ventricular septal defect, Atrial septal defect, Atrioventr... ORPHA:3047
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Short thumb, Atrial septal defect, Horseshoe kidney, Hepatomegaly, Abnormality of th... ORPHA:2538
Even-Plus Syndrome
Recurrent urinary tract infections, Anal atresia, High palate, Severe short stature, Short neck, ... OMIM:616854
Feingold Syndrome 1
Asplenia, Ventricular septal defect, Short thumb, Interrupted aortic arch, Polysplenia, Short toe... OMIM:164280
Cutis Marmorata Telangiectatica Congenita
Reduced bone mineral density, Scoliosis, Short lower limbs, Displacement of the urethral meatus, ... ORPHA:1556
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Atrial septal defect, Hydroureter, Thick eyebrow, Cleft palate, Highly... OMIM:610759
Chromosome 13Q33-Q34 Deletion Syndrome
Prominent metopic ridge, Short thumb, Penoscrotal transposition, Camptodactyly, Cryptorchidism, I... OMIM:619148
Cerebrofaciothoracic Dysplasia
Scoliosis, Thick eyebrow, Cleft palate, Ventriculomegaly, Sprengel anomaly, Cleft upper lip, Shor... ORPHA:1394
Renpenning Syndrome
Diabetes mellitus, Cleft palate, Narrow mouth, Sprengel anomaly, Iris coloboma, Severe short stat... ORPHA:3242
Coffin-Siris Syndrome 1
Scoliosis, Inguinal hernia, Facial hypertrichosis, Short distal phalanx of the 5th toe, Tetralogy... OMIM:135900
Oculoectodermal Syndrome
Coarctation of aorta, Giant cell granuloma of mandible, Short neck, Supernumerary nipple, Atrial ... OMIM:600268
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Chronic sinusitis, Congenitally corrected transposition of the great arte... OMIM:618300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrupted aortic arch, Pa... ORPHA:2255
Aortic Aneurysm, Familial Thoracic 12
Pectus excavatum, Scoliosis, High palate, Aortic root aneurysm, Spontaneous pneumothorax, Arthrit... OMIM:619825
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Inguinal hernia, Hip dislocation, Long clavicles, Hypoplastic nipples, Cleft palate, I... OMIM:265000
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial ... OMIM:617478
Trisomy 13
Scoliosis, Ventricular septal defect, Atrial septal defect, Multiple renal cysts, Cleft palate, H... ORPHA:3378
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Reduced bone mineral density, Venous insufficiency, Arteriovenous ... ORPHA:137608
Kabuki Syndrome 1
Scoliosis, Hemolytic anemia, Ventricular septal defect, Malabsorption, Atrial septal defect, Uret... OMIM:147920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Knee flexio... OMIM:603387
Pseudoaminopterin Syndrome
Inguinal hernia, Asplenia, Short thumb, Horseshoe kidney, Highly arched eyebrow, Patent foramen o... ORPHA:221120
Cutis Laxa, Autosomal Recessive, Type Ic
Inguinal hernia, Atelectasis, Morgagni diaphragmatic hernia, Patent foramen ovale, Rectal prolaps... OMIM:613177
Sandestig-Stefanova Syndrome
High palate, Camptodactyly, Retrognathia, Prominent metopic ridge, Short neck, Intrauterine growt... OMIM:618804
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the twelfth cranial nerve, Scoliosis, Abnormality of the musculature o... ORPHA:268882
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Retrognathia, Micropenis, Crossed fused renal ectopia, Atrial septal defect, Ventric... OMIM:618142
Caudal Regression Syndrome
Maternal diabetes, Anal atresia, Scoliosis, Cryptorchidism, Joint stiffness, Vesicoureteral reflu... ORPHA:3027
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Ventricular septal defect, Hydranencephaly, Unilateral renal agen... OMIM:601355
Trisomy 18
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Cleft palate, Narrow mo... ORPHA:3380
Jacobsen Syndrome
Inguinal hernia, Scoliosis, Hypoplastic left heart, Hip dislocation, Ventricular septal defect, V... ORPHA:2308
Cerebrocostomandibular Syndrome
Scoliosis, Ventricular septal defect, Atrial septal defect, Horseshoe kidney, Cleft palate, Cario... OMIM:117650
Microphthalmia, Syndromic 12
Cryptorchidism, Retrognathia, Ventricular septal defect, Pulmonary hypoplasia, Micrognathia, Clef... OMIM:615524
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Ventricular septal... OMIM:619343
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Hip dislocation, Atrial septal defect, Horseshoe kidney, Short metatarsal, Undul... OMIM:609945
Loeys-Dietz Syndrome 2
Scoliosis, Inguinal hernia, Bifid uvula, Atrial septal defect, Arterial tortuosity, Cleft palate,... OMIM:610168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Scoliosis, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Myocardial fibr... OMIM:253800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Thick eyebrow, Cleft palate, Ventriculomegaly, Highly arched eyebrow, Thin v... OMIM:614701
Jacobsen Syndrome
Ventricular septal defect, Atrial septal defect, Annular pancreas, Recurrent respiratory infectio... OMIM:147791
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the lungs, Enlarged thorax, Hydranencephaly, Short... ORPHA:2570
Carpenter Syndrome 1
Scoliosis, Agenesis of permanent teeth, Tetralogy of Fallot, Ventricular septal defect, Atrial se... OMIM:201000
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Bifid uvula, Atrial septal defect, Horseshoe kidney, Abnormal heart... ORPHA:500150
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Enlarged kidney, Tetralogy of Fallot, Ventricular septal defect, Atrial s... OMIM:618280
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Esophageal atresia, Retrognathia, Duodenal atresia, Hypert... OMIM:619227
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Scoliosis, HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, K... OMIM:301040
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Scoliosis, Inguinal hernia, Hepatomegaly, Cherry red spot of the macula, ... OMIM:230500
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Arteriovenous malformation, Arrhythmia, Ventriculomegaly, Cerebral ischemia, Joint... ORPHA:60040
Thakker-Donnai Syndrome
Hydronephrosis, Anal atresia, Short neck, Tetralogy of Fallot, Ventricular septal defect, Communi... ORPHA:1780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Patellar dislocation,... ORPHA:353281
Digeorge Syndrome
Scoliosis, Inguinal hernia, Bifid uvula, Right aortic arch with mirror image branching, Tetralogy... OMIM:188400
Loeys-Dietz Syndrome 3
Scoliosis, Inguinal hernia, Bifid uvula, Atrial septal defect, Arterial tortuosity, Osteoarthriti... OMIM:613795
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Diabetes insipidus, Holoprosencephal... ORPHA:1445
Ehlers-Danlos Syndrome, Classic-Like, 2
Inguinal hernia, Hip dislocation, Generalized joint laxity, Shoulder dislocation, Osteoarthritis,... OMIM:618000
Chromosome 15Q25 Deletion Syndrome
Pectus excavatum, Cryptorchidism, Dextrocardia, Inguinal hernia, Short neck, Ventricular septal d... OMIM:614294
Cooper-Jabs Syndrome
Camptodactyly of finger, Scoliosis, Reduced bone mineral density, Anteriorly placed anus, Ventric... ORPHA:1488
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Multiple glomerular cysts,... OMIM:618719
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Cleft pala... OMIM:618494
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart, Abnormal aortic morphology, Abnormal clavicle mor... ORPHA:991
49,Xxxxy Syndrome
Scoliosis, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Recurrent respir... ORPHA:96264
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormality of the pulmonary veins, Gastroesophageal reflux, Inguinal hernia,... ORPHA:2306
Okamoto Syndrome
Scoliosis, Prominent metopic ridge, Facial hypertrichosis, Ventricular septal defect, Ureteropelv... ORPHA:2729
15Q11.2 Microdeletion Syndrome
Coarctation of aorta, Abnormal palate morphology, Ventricular septal defect, Total anomalous pulm... ORPHA:261183
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Left ventricular outflow tract o... OMIM:614980
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Scoliosis, Abnormality of the kidney, Horseshoe kidney, Short metatarsal, Streak... ORPHA:1772
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Pseudocoarctation of the aorta, Short toe, Bicuspid aortic valve, Short 5th metacar... OMIM:604381
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Increased pineal volume, Ventricular septal defect, Atrial septal defect, Fasti... ORPHA:769
Distal Deletion 12Q
Polycystic kidney dysplasia, Diabetes mellitus, Supernumerary tooth, Microglossia, Patent foramen... ORPHA:96149
Septopreoptic Holoprosencephaly
Coarctation of aorta, Anteriorly placed anus, Abnormal rib morphology, Dysphagia, Ethmoidal encep... ORPHA:280195
Acrofacial Dysostosis 1, Nager Type
Absent lower eyelashes, Scoliosis, Hip dislocation, Tetralogy of Fallot, Ventricular septal defec... OMIM:154400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Scoliosis, Left ventricular noncompaction cardiomyopathy, Ventricular septal def... OMIM:300967
Noonan Syndrome 12
Pectus excavatum, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Polyhyd... OMIM:618624
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Leukocytosis, Short thumb, Tetralogy of Fallot, Ventricular septal defect, Atria... OMIM:274000
Ellis-Van Creveld Syndrome
Horizontal ribs, Cryptorchidism, Abnormality of the alveolar ridges, Atrial septal defect, Short ... OMIM:225500
Recombinant 8 Syndrome
Camptodactyly of finger, Scoliosis, Abnormality of the kidney, Tetralogy of Fallot, Ventricular s... ORPHA:96167
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal def... ORPHA:373
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Horseshoe kidney, Sacral dimple, Short stature, Hemivertebrae, Bicuspid aortic valv... OMIM:619318
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Scoliosis, Ventricular septal defect, Atrial septal defect, Widely spaced teeth, Solitary median ... OMIM:301044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Ventricular septal defect, Atrial septal defect, Abnormal heart morpho... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Ventricular septal defect, Atrial septal defect, Abnormal heart morpho... ORPHA:353277
Al Amyloidosis
Abnormality of the kidney, Reduced left ventricular ejection fraction, Monoclonal light chain car... ORPHA:85443
Lessel-Kreienkamp Syndrome
Open mouth, Gastroesophageal reflux, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic val... OMIM:619149
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Intrauterine growth retardation, Short stature, Cleft palate, Highly arched eye... OMIM:611867
Yuan-Harel-Lupski Syndrome
High palate, Aortic root aneurysm, Ventricular septal defect, Decreased nerve conduction velocity... OMIM:616652
Mirage Syndrome
Scoliosis, Intracranial hemorrhage, Recurrent urinary tract infections, Cryptorchidism, Leukopeni... OMIM:617053
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Hernia of the abdominal wall, Abnormality of th... ORPHA:2184
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Inguinal hernia, Renal duplication, Nephrocalcinosis, ... OMIM:268310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Cryptorchidism, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Fronta... ORPHA:3304
Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothyroidism, Abnormal pericardium morphology, Hypotension, Hypert... ORPHA:442
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Dextrocardia, Right aortic arch, Bronchiectasis, Hypothyroidism OMIM:617577
Syndromic Diarrhea
Polycystic kidney dysplasia, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect, Atr... ORPHA:84064
Chilton-Okur-Chung Neurodevelopmental Syndrome
Scoliosis, Ankyloglossia, Asymmetry of the thorax, Widely spaced teeth, Septo-optic dysplasia, Hi... OMIM:619841
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Increased nuchal translucency, Inguinal hernia, Retrognathia, Sparse eyelashes, Polyhydramnios, S... ORPHA:544488
Trichorhinophalangeal Syndrome, Type Ii
Scoliosis, Rib exostoses, Inguinal hernia, Lumbar scoliosis, Thick eyebrow, Hyperplasia of the ma... OMIM:150230
Viss Syndrome
Scoliosis, Broad uvula, Inguinal hernia, Bifid uvula, Left aortic arch with retroesophageal right... OMIM:619472
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Asplenia, Cholestasis, Enlarged kidney, Pulmonary hypo... OMIM:615415
Fanconi Anemia, Complementation Group R
Anal atresia, Scoliosis, Agenesis of permanent teeth, Anemia, Hydrocephalus, Bone marrow hypocell... OMIM:617244
Poland Syndrome
Absence of pectoralis minor muscle, Dextrocardia, Hypoplasia of serratus anterior muscle, Short r... OMIM:173800
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Malar flattening, Fine hair, Pulmonary hyp... OMIM:300978
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Abnormality of the kidney, Mandibular prognathia, Delayed eruption of pe... ORPHA:521445
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Scoliosis, Hip dislocation, Bifid uvula, Atrial septal defect, Cleft palate, Ventriculomegaly, Sm... OMIM:300968
Xp22.13P22.2 Duplication Syndrome
Pectus excavatum, Scoliosis, High palate, Short neck, Polycystic ovaries, Umbilical hernia, Mandi... ORPHA:284180
Frontometaphyseal Dysplasia 2
Delayed puberty, Scoliosis, Bifid uvula, Short metatarsal, Thick eyebrow, Cleft palate, Patent fo... OMIM:617137
Blue Rubber Bleb Nevus
Arteriovenous malformation, Volvulus, Gastrointestinal infarctions, Bone pain, Microcytic anemia,... ORPHA:1059
Mullegama-Klein-Martinez Syndrome
Scoliosis, Coarctation of aorta, Hypoplastic left heart, Bifid uvula, Curly eyelashes, Cleft lip,... OMIM:301022
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Coarctation of aorta, Anteriorly placed anus, Bifid uvula, Tetralogy of Fallot, V... OMIM:617159
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Right aortic arch,... OMIM:613854
Wolf-Hirschhorn Syndrome
Scoliosis, Hip dislocation, Short upper lip, Short thumb, Ventricular septal defect, Atrial septa... OMIM:194190
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Retrognathia, Short neck, Polyhydramnios, Pulmonary hypoplasia, Wide... OMIM:263210
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Monosomy 18P
Pectus excavatum, Enlarged thorax, Tooth malposition, Short neck, Low posterior hairline, Holopro... ORPHA:1598
Distal Duplication 15Q
Pectus excavatum, Cryptorchidism, Anal atresia, High palate, Camptodactyly of finger, Short neck,... ORPHA:1707
Halperin-Birk Syndrome
Colpocephaly, High palate, Gastroesophageal reflux, Long eyelashes, Inguinal hernia, Hip dislocat... OMIM:618651
17Q24.2 Microdeletion Syndrome
Scoliosis, Tooth malposition, Pulmonic stenosis, Short neck, Synophrys, Prolonged QT interval, Ab... ORPHA:529962
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Tricuspid regurgitation, Smooth ph... ORPHA:261337
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... OMIM:606217
Pericardial And Diaphragmatic Defect
Pectus excavatum, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, P... ORPHA:2847
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Tricuspid regur... OMIM:616589
Atrial Septal Defect, Sinus Venosus Type
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... ORPHA:99105
Czeizel-Losonci Syndrome
Hydronephrosis, High palate, Dextrocardia, Aplasia of the left hemidiaphragm, Spina bifida, Thora... ORPHA:2437
Proteus Syndrome
Scoliosis, Hip dislocation, Tooth agenesis, Asymmetry of the thorax, Myofibrillar myopathy, Bronc... ORPHA:744
Currarino Syndrome
Sacrococcygeal teratoma, Abnormal intestine morphology, Arteriovenous malformation, Hypoplasia of... ORPHA:1552
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Short stature, Central diaphragmatic hernia, ... OMIM:617450
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Iris coloboma, Hydrocephalus, Miss... ORPHA:3301
Loeys-Dietz Syndrome 1
Scoliosis, Bifid uvula, Atrial septal defect, Arterial tortuosity, Cleft palate, Descending thora... OMIM:609192
Rapidly Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent superficial veins, Lipoatrophy, T... ORPHA:141184
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Scoliosis, Short thumb, Ventricular septal defect, Atrial septal defect, Ureteropelvic junction o... OMIM:619522
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Pectus excavatum, Scoliosis, ... ORPHA:1520
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Goiter, Increased circulating prolactin concentration, Umbilical hernia, Facial ede... ORPHA:90674
Feingold Syndrome Type 1
Abnormality of the kidney, Short thumb, Horseshoe kidney, Interrupted aortic arch, Abnormal heart... ORPHA:391641
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Scoliosis, Thoracic hemivertebrae, Hypoplastic left heart, Gastroesophageal reflux, Atrial septal... OMIM:619721
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short distal phalanx of finger, Scoliosis, Long lower eyelashes, Prominent metopic ridge, Bifid u... OMIM:612474
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal defect, Left ventricula... ORPHA:3092
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Internal hemorrhage, Joint dislocation, Osteoarthritis, Transient ischemic attac... ORPHA:286
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Hepatomegaly, Perimembranous ventricular septal defect, Narrow mou... OMIM:608779
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Scoliosis, Contracture of the proximal interphalangeal joint of the 4th toe, Congeni... ORPHA:457279
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Cervical myelopathy, Low back pain, Urinary retention, Neurogenic b... ORPHA:79093
Oeis Complex
Duplicated colon, Hydroureter, Sacral segmentation defect, 11 pairs of ribs, Pelvic kidney, Recto... OMIM:258040
Catel-Manzke Syndrome
Camptodactyly of finger, Pectus excavatum, Scoliosis, Joint stiffness, Ventricular septal defect,... ORPHA:1388
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Ectopic kidney, Optic disc pallor, Hepatomegaly, Neona... OMIM:613730
Truncus Arteriosus
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... ORPHA:3384
Velocardiofacial Syndrome
Pulmonary artery atresia, Cryptorchidism, Inguinal hernia, Retrognathia, Open mouth, Right aortic... OMIM:192430
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Impaired sensitivity to thyroid stimulating hormone, Goiter, Edema, Umbilical herni... ORPHA:90673
Cenani-Lenz Syndactyly Syndrome
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ectopic kidney, Malar flattening, Enamel hypoplas... OMIM:212780
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Severe short stature, Sh... ORPHA:1797
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney, Lower ... OMIM:613630
Monosomy 13Q34
Prolonged prothrombin time, Hematochezia, Pulmonic stenosis, Fetal pyelectasis, Osteochondrosis, ... ORPHA:96168
Opitz-Kaveggia Syndrome
Inguinal hernia, Abnormal heart morphology, Cleft palate, Narrow palate, Sparse hair, Cleft upper... OMIM:305450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Left unicoronal synostosis, Atrial septal defect, Aganglionic megacolon, Peripheral... OMIM:614749
Marfan Syndrome
Scoliosis, Tricuspid regurgitation, Spondylolisthesis, Narrow palate, Pneumothorax, Incisional he... OMIM:154700
Mosaic Trisomy 16
Maternal diabetes, Short thumb, Ventricular septal defect, Atrial septal defect, Horseshoe kidney... ORPHA:1708
Alagille Syndrome
Delayed puberty, Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect,... ORPHA:52
Dural Sinus Malformation
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Hydrocephalus, Papille... ORPHA:97339
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Rhizomelia, Cleft palate, Narrow mouth... OMIM:228520
Phaver Syndrome
Pulmonary artery atresia, Butterfly vertebrae, Coarctation of aorta, Camptodactyly of finger, Joi... ORPHA:2876
Genitopalatocardiac Syndrome
Scoliosis, Cryptorchidism, Hydrocephalus, Abnormality of mesentery morphology, Kyphosis, Microgna... ORPHA:2075
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Lymphopenia, Facial palsy, Bicuspid a... OMIM:182410
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Enuresis, Wolff-Parkinson-White syndrome, Abnormality of dental morphology, Thick e... ORPHA:369950
Superficial Siderosis
Subarachnoid hemorrhage, Arteriovenous malformation, Lower limb muscle weakness, Functional abnor... ORPHA:247245
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Prominent metopic ridge, Atrial septal defect, Thick eyebrow, High anterior hairline, Narrow mout... OMIM:619512
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Scoliosis, Crossed fused renal ectopia, Bifid uvula, Tetralogy of Fa... ORPHA:2919
Oligomeganephronia
Secundum atrial septal defect, Decreased glomerular filtration rate, Abnormal nephron morphology,... ORPHA:2260
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, High-output congestive heart failure... ORPHA:137667
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Anemia, Intrauterine growth retardation, Perimembranous ven... OMIM:620135
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Cryptorchidism, Abnormal palate morphology, Tetralogy of Fallot, Hypoplasia of peni... ORPHA:1381
Seckel Syndrome 9
Recurrent urinary tract infections, Recurrent respiratory infections, Ventricular septal defect, ... OMIM:616777
Non-Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia, Congestive heart failure,... ORPHA:141179
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Long clavicles, Ventricular septal defect, Hypoplastic nipples, Atrial septal defect, ... ORPHA:96334
Gm1-Gangliosidosis, Type Ii
Scoliosis, Joint stiffness, Limb undergrowth, Hypoplastic vertebral bodies, Hepatomegaly, Sea-blu... OMIM:230600
Absence Of The Pulmonary Artery
Right aortic arch, Tetralogy of Fallot, Atrial septal defect, Reduced left ventricular ejection f... ORPHA:980
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Ventricular septal defect, A... OMIM:601808
Aymé-Gripp Syndrome
Oligodontia, Scoliosis, Inguinal hernia, Prominent metopic ridge, Cleft palate, Ventriculomegaly,... ORPHA:1272
Desmosterolosis
Generalized osteosclerosis, Partial agenesis of the corpus callosum, Hydrocephalus, Total anomalo... OMIM:602398
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Anal s... OMIM:614080
Weiss-Kruszka Syndrome
Colpocephaly, Prominent metopic ridge, Ventricular septal defect, Left ventricular hypertrophy, B... OMIM:618619
Distal Deletion 10P
Anal atresia, Cryptorchidism, Joint stiffness, Short neck, Polycystic ovaries, Abnormality of the... ORPHA:1580
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Tetralogy of Fallot, Phocomelia, Missing ribs, Hypoplasia of the radius,... ORPHA:3186
Congenital Tracheomalacia
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Abnormal... ORPHA:95430
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Asplenia, Atrioventr... OMIM:619123
Holoprosencephaly 5
High palate, Hydrocephalus, Synophrys, Deep philtrum, Lobar holoprosencephaly, Semilobar holopros... OMIM:609637
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Scoliosis, Optic nerve dysplasia OMIM:246000
Baller-Gerold Syndrome
Bicoronal synostosis, Scoliosis, Abnormality of the kidney, Bifid uvula, Aplasia of metacarpal bo... OMIM:218600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Anterior encephalocele, Ventricular septal defect, Amelia, Holopros... OMIM:601357
12Q14 Microdeletion Syndrome
Scoliosis, Diabetes mellitus, Synophrys, Horseshoe kidney, Skeletal muscle atrophy, Ectopic kidne... ORPHA:94063
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Colon cancer, Nodular goiter, Abnormal neck blood vessel morphology, Papillary renal cell... ORPHA:319487
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Generalized joint laxity, Ventricular septal... ORPHA:2962
Larsen Syndrome
Spondylolysis, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal defect, Short... OMIM:150250
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Abnormality of the vertebral column, Ectopic kidney, Abnormal heart morpho... OMIM:239800
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal m... ORPHA:1354
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Scoliosis, Hypoplastic left heart, Tetralogy of... ORPHA:1727
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Abnormality of the odontoid process, Vertebral fusion, Severe s... OMIM:277300
Craniofacial Microsomia
Scoliosis, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Ureteropelvic junct... OMIM:164210
Myhre Syndrome
Ventricular septal defect, Atrial septal defect, Thick eyebrow, Cleft palate, Narrow mouth, Short... OMIM:139210
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Lipoatrophy, Supernumerary nipple, Shoulder girdle muscle atrophy, K... ORPHA:64755
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ... OMIM:616300
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Rhizomelia, Hepatomegaly, Multiple... OMIM:215140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Scoliosis, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, High anter... ORPHA:438213
Genetic Transient Congenital Hypothyroidism
Macroglossia, Goiter, Abnormal radioactive iodine uptake test result, Edema, Umbilical hernia, Pr... ORPHA:226316
Acro-Renal-Mandibular Syndrome
Scoliosis, Hip dislocation, Thin ribs, Abnormal clavicle morphology, Sprengel anomaly, Hypoplasia... ORPHA:958
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Atrial septal defect, Occipital encephalocele, Cleft palate, Unilatera... OMIM:615948
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Iris coloboma, Renal hypoplasia/aplasia, Intrauterine growth retard... ORPHA:195
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Gastroesophageal reflux, Right aortic arch, Ventricular septal defect, Widely spa... ORPHA:513456
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Ventricular septal defect, Septo-optic dysplasia, Solitary median maxilla... OMIM:301043
Giant Cell Arteritis
Epistaxis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Long clavicles, Rhizomelic leg shortening, Occipital encephalocele, Ventriculomegaly, Abnormal ac... ORPHA:397715
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Short tibia, Complete atrioventricular canal defect, Cleft palate, Horizonta... OMIM:617925
Kbg Syndrome
Oligodontia, Scoliosis, Vertebral fusion, Thoracic kyphosis, Cryptorchidism, Short neck, Congenit... ORPHA:2332
Gm1 Gangliosidosis Type 1
Macroglossia, Hepatosplenomegaly, Spatulate ribs, Aspiration pneumonia, Hydrops fetalis, Hypoplas... ORPHA:79255
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Contracture of ... OMIM:609813
Aortic Aneurysm, Familial Thoracic 10
Pectus excavatum, Fusiform ascending tubular aorta aneurysm, Scoliosis, High palate, Aortic root ... OMIM:617168
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Atrial septal defect, Hydrocephalus, Wide anterior fontanel, Short ... OMIM:614886
Donnai-Barrow Syndrome
Proteinuria, Iris coloboma, Ventricular septal defect, Umbilical hernia, Widow's peak, Wide anter... ORPHA:2143
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Renal cortical adenoma, Colon cancer, Nodular goiter, Abnormal neck blood vessel morpholo... ORPHA:97290
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Intrauterine growth retardation, Dysphagia, Microretrog... ORPHA:89844
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Scoliosis, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect,... OMIM:617506
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Anal atresia, Anteriorly placed anus, Iris coloboma, Ventricular septal defect, Atr... OMIM:309801
Microphthalmia, Syndromic 2
Oligodontia, Scoliosis, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial s... OMIM:300166
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Tetralogy of Fallot, Contracture of the proximal interphalangeal joint of the 5t... OMIM:280000
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Scoliosis, Ventricular septal defect, Ankyloglossia, Thick eyebrow, Ventriculome... OMIM:619475
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Hypoplas... OMIM:619702
X Small Rings
Reduced bone mineral density, Aortic root aneurysm, Ventricular septal defect, Short neck, Fetal ... ORPHA:96201
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pectus excavatum, Scoliosis, Mitral regurgitation, Aortic regurgitation, Right atrial enlargement... ORPHA:555877
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Double outlet right ventric... OMIM:617912
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Duplicated collecting system, Thick eyebrow, Macrocytic anemia, Muscu... OMIM:620071
Wrinkly Skin Syndrome
Scoliosis, Inguinal hernia, Atrial septal dilatation, Muscular ventricular septal defect, Smooth ... OMIM:278250
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Scoliosis, Thin ribs, Narrow palate, Supernumerary ribs, Mitral valve prolapse, ... OMIM:182212
Marshall-Smith Syndrome
Short distal phalanx of finger, Scoliosis, Large sternal ossification centers, Ventricular septal... OMIM:602535
Dextrocardia
Pancreatic hypoplasia, Situs inversus totalis, Abnormal renal morphology, Dextrocardia, Congenita... ORPHA:1666
Acrocallosal Syndrome
Abnormal pulmonary valve morphology, Inguinal hernia, Bifid uvula, Cleft palate, Narrow mouth, Pr... OMIM:200990
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Meckel Syndrome
Situs inversus totalis, Asplenia, Urethral atresia, Cleft palate, Multicystic kidney dysplasia, C... ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Coarctation of aorta, Long eyelashes, Atrial septal defect, Sacral dimple, Short ... OMIM:615502
Vater/Vacterl Association
Scoliosis, Short thumb, Tetralogy of Fallot, Ventricular septal defect, Patent urachus, Occipital... OMIM:192350
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage, Lower limb pain, Hydrocephalus, Lower limb muscle weaknes... ORPHA:2356
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus, Abnormal c... ORPHA:99811
Stormorken Syndrome
Subarachnoid hemorrhage, Hypoplastic spleen, Asplenia, Myopathy, Anemia, Bruising susceptibility,... OMIM:185070
Thanatophoric Dysplasia
Increased nuchal translucency, Abnormality of the kidney, Joint stiffness, Atrial septal defect, ... ORPHA:2655
Diamond-Blackfan Anemia 10
Renal duplication, Ventricular septal defect, Ectopic kidney, Anemia, Malar flattening, Reticuloc... OMIM:613309
Aarskog-Scott Syndrome
Camptodactyly of finger, Inguinal hernia, Cleft palate, High anterior hairline, Cleft upper lip, ... ORPHA:915
Ivic Syndrome
Pectoralis major hypoplasia, Scoliosis, Leukocytosis, Short thumb, Tetralogy of Fallot, Carpal sy... OMIM:147750
Diastrophic Dysplasia
Short finger, Recurrent respiratory infections, Camptodactyly of finger, Scoliosis, Cryptorchidis... ORPHA:628
Schimke Immuno-Osseous Dysplasia
Stroke, Transient ischemic attack, Growth delay, Proteinuria, Pulmonary arterial hypertension, Ab... ORPHA:1830
Gm1-Gangliosidosis, Type Iii
Scoliosis, Skeletal muscle atrophy, Hypoplastic acetabulae, Kyphosis, Foam cells, Ventriculomegal... OMIM:230650
Partial Deletion Of The Short Arm Of Chromosome 7
Abnormality of the frontal hairline, Small toe, Retrognathia, Synophrys, Submucous cleft lip, Apl... ORPHA:261911
Poland Syndrome
Scoliosis, Acute leukemia, Absent hand, Atrial septal defect, Diabetes mellitus, Asymmetry of the... ORPHA:2911
Cat-Eye Syndrome (Type I)
Anal atresia, Iris coloboma, Short stature, Abnormal heart morphology, Micrognathia DECIPHER:42
Chromosome 3Q13.31 Deletion Syndrome