Gene Summary

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

IMPC Data Collections

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.

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

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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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 132 images

View all 6 images

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
Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Long philtrum, Bicuspid... ORPHA:508498
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Absent... OMIM:134780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin... OMIM:265380
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal lower lip morphology, Vertebr... ORPHA:1166
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, A... OMIM:306955
Emanuel Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve... ORPHA:96170
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Highly arched eyebrow, Optic nerve hypoplasia, Pectus excavatum, Abn... ORPHA:508488
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni... ORPHA:2311
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Pulmonic stenosis, Aortic valve steno... OMIM:609029
Mosaic Trisomy 9
Abnormal liver lobulation, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Int... ORPHA:99776
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Small pituitary gland, Dental crowding, Hyperlordosis, Thyroid hypopl... OMIM:619503
3C Syndrome
Hypoplasia of penis, Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve ... ORPHA:7
Verheij Syndrome
Retrognathia, Optic nerve hypoplasia, Intrauterine growth retardation, Short 5th finger, Long phi... OMIM:615583
Ritscher-Schinzel Syndrome 1
Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Intrauterine growth retardation... OMIM:220210
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Optic nerve hypopl... ORPHA:536471
Fanconi Anemia
Abnormal carotid artery morphology, Reduced bone mineral density, Arteriovenous malformation, Ren... ORPHA:84
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Joint stiffness, Absent thumb, Abnormal clavicle morphology, Scoliosi... ORPHA:392
Fg Syndrome Type 1
Small pituitary gland, Dental crowding, Abnormal sternum morphology, Optic nerve hypoplasia, Wide... ORPHA:93932
Williams Syndrome
Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth, Joint hypermobility,... ORPHA:904
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormal intestine morphology, Kyphosis, Joint stiffness, Abnormal eyebrow m... ORPHA:1606
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Renal hypoplasia/aplasia, Truncus arteriosus, Abnorm... ORPHA:2516
Prune Belly Syndrome
Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Oligohydramnios, A... ORPHA:2970
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo... ORPHA:2059
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger, Intrauterine gr... ORPHA:464311
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Optic nerve hypoplasia, Pulmonic stenosis, Leukopenia, Intrauterine growth retardat... OMIM:301056
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Anorect... ORPHA:567
Lateral Meningocele Syndrome
Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Long p... OMIM:130720
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Intrau... ORPHA:672
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Recurrent sinusitis, Joint hyper... OMIM:213980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi... ORPHA:371428
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Hypog... ORPHA:2990
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Aortic valve stenosis, Intrauterine growth retardation, Ventriculomeg... ORPHA:464306
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Pectus carinatum, Aortic valve stenosis, Lower eyelid edema, Arrhyth... ORPHA:363705
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Delayed skeletal maturation, Bifid uvula, Dysphagia, Lateral ventricle dilatation... OMIM:607872
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Abnormal form of the ... ORPHA:2162
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu... ORPHA:401935
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Ventriculomegaly, Scoliosis, Abnorma... OMIM:179613
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Gastrointestinal infarctions, Abnormal salivary gland morphology, A... ORPHA:314652
Stankiewicz-Isidor Syndrome
Retrognathia, Sacral dimple, Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidis... OMIM:617516
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Intestinal malrotation, Wide mouth, Splenomegaly, Intrauter... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Abnormal heart morphology, Bifid uvula, Bicuspid ao... ORPHA:453499
Kleefstra Syndrome
Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Bicuspid aortic valve, V... ORPHA:261494
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Shortening of all distal phalanges of the fingers, Decrea... OMIM:146510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Abnormal renal morphology, Pectus excavatum, Wide mouth, Umbilical hernia,... ORPHA:329224
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Autosomal Recessive Robinow Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Pectus carinatum, Pectus excavatu... ORPHA:1507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Ectopic kidney, Pectus excavatum, Delayed skeletal maturation, Nonimmune hydrops fe... OMIM:235510
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Repeated pneumothoraces, Dental crowding, Pectus excavatum, Kyph... OMIM:617602
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ... ORPHA:363958
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Micr... OMIM:264480
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th... ORPHA:185
Congenital Alveolar Capillary Dysplasia
Tracheoesophageal fistula, Aortic valve stenosis, Intestinal malrotation, Bicuspid aortic valve, ... ORPHA:210122
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Thyroid hypoplasia, Umbilical hernia, Abnormal cardiac septum morphology,... OMIM:308050
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Recurrent ... ORPHA:2745
Williams-Beuren Syndrome
Kyphoscoliosis, Premature graying of hair, Abnormal renal morphology, Hypertension, Pectus excava... OMIM:194050
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Polyhydramnios, Platyspondyly, Narrow chest, Encephalocele, Short thor... ORPHA:93274
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Fliedner-Zweier Syndrome
Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, Scoliosis, High p... OMIM:620511
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin of left coronary artery ... OMIM:618845
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spondylolisthesis, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pulmonic steno... OMIM:617877
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Spina bifida occulta, Valvular pulmonary stenosis, Rectovaginal fistula, Craniosynos... OMIM:300707
Chops Syndrome
Cervical C2/C3 vertebral fusion, Splenomegaly, Long philtrum, Optic atrophy, Patent foramen ovale... OMIM:616368
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Arteriovenous malformation, Lipoma, Pectus excavatum, Delayed skeletal matu... ORPHA:109
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the great... OMIM:608978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pectus excavatum, Intestinal malrotation, Long philtrum, Mesenteric cyst, ... OMIM:618316
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Everted lower li... OMIM:619534
Koolen-De Vries Syndrome
Spondylolisthesis, Everted lower lip vermilion, Pectus excavatum, Kyphosis, Pulmonic stenosis, Bi... OMIM:610443
Treacher-Collins Syndrome
Retrognathia, Hypoplasia of penis, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, T... ORPHA:861
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ve... ORPHA:79345
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Generalized hypertrichosis, Intrauterine growth re... ORPHA:2409
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Pectus excavatum, Myelomeningocele, Short thorax, Hydr... OMIM:613686
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Dental crowding, Highly arched eyebrow, Pectus excavatum, L... OMIM:180849
Cat Eye Syndrome
Biliary atresia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia... OMIM:115470
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Absent thumb, Leukopenia, Intrauterine growth retardation, Hypoplasi... OMIM:603467
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Hypospadias, Ventriculomegaly, Highly arched eyebrow, Tracheobronchomal... ORPHA:500159
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Myelomeningocele, Kyphosis, Abnormal heart morphology, Long phil... ORPHA:94065
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Ascites, Intestinal malrotation, Splenomegaly, Intrauterine growth retar... OMIM:269860
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Arteriovenous malformation, Encephalocele, Hydrocephalus,... ORPHA:974
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Thyroid hypoplasia, Intestinal malrotation, Hypopl... ORPHA:2166
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Abnormal cranial nerve morphology, Scoliosis, I... ORPHA:624
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Hypertension, Cholestasis... OMIM:301068
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Dislocated radial head, Pectus carin... OMIM:245600
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Intestinal malrotation, Abno... ORPHA:244
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Transposition of the great arteries, Atri... ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Highly arched eyebrow, Wide mouth, Umbilical hernia, Ventriculom... OMIM:618454
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Abnormal form of th... ORPHA:1834
Triploidy
Abnormality of the gallbladder, Hypoplasia of penis, Decreased skull ossification, Intestinal mal... ORPHA:3376
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Right aortic arch, Sparse lateral eyebrow, Micrognathia,... OMIM:617616
Charge Syndrome
Delayed puberty, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Dysphagia, Umbilical... OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Pectus carinatum, Short ri... OMIM:312870
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,... OMIM:231060
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Encephalocraniocutaneous Lipomatosis
Lipoma, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Cryptorchidism, Hydronephrosis, ... OMIM:613001
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broa... ORPHA:2863
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula, Broad philtrum, Apl... OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Highly arched eyebrow, Tracheobronchomalacia, Scoliosis, Synophrys, Umbilical hernia... OMIM:617751
Charge Syndrome
Delayed puberty, Highly arched eyebrow, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, I... ORPHA:138
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Limited knee extension, Congenital f... OMIM:121050
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Wide mouth, Lateral ventricle dilatation, Elbow flexion contract... ORPHA:1692
Trisomy 1Q
Congenital diaphragmatic hernia, Ventriculomegaly, Hydrops fetalis, Short thorax, Hydrocephalus, ... ORPHA:261344
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:352665
Iniencephaly
Congenital diaphragmatic hernia, Anencephaly, Hyperlordosis, Myelomeningocele, Absent vertebra, R... ORPHA:63259
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Renal hypoplasia/aplasia, Abnorm... ORPHA:818
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal a... OMIM:612946
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Protein-losing enteropathy, Hepatomegaly, Anemia, Edema... OMIM:608104
Zttk Syndrome
Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Intrauterine growth ... OMIM:617140
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ... ORPHA:97360
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Ovarian fibroma, Abnormal ster... OMIM:109400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Short metacarpal, Delayed skeletal maturation, Prolonged neonatal jaundice, Short h... OMIM:210710
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Dental crowding, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Leuk... OMIM:620654
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis... ORPHA:955
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Highly arched eyebrow, Abnormal sternum morphology, Abnormal... ORPHA:487796
Kabuki Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies,... ORPHA:2322
Aicardi Syndrome
Lipoma, Lateral ventricle dilatation, Optic atrophy, Butterfly vertebrae, Dandy-Walker malformati... OMIM:304050
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Left-to-right shunt, Abnormal heart morphology, Ventriculomegaly, Abnormality of th... ORPHA:363444
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Supernumerary nipple, Inguinal hernia, Highly arched eyebrow, Pelvic kidney, Pat... OMIM:618653
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Hydrops fetalis, Inguinal herni... ORPHA:584
Desmosterolosis
Retrognathia, Renal hypoplasia/aplasia, Intestinal malrotation, Bifid uvula, Severe short stature... ORPHA:35107
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Glossoptosis, Lateral ventricle dilatation, Left ventricular hypertrophy, Long ph... OMIM:611209
Mowat-Wilson Syndrome
Urinary incontinence, Dental crowding, Pectus carinatum, Everted lower lip vermilion, Pectus exca... ORPHA:2152
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Retrognathia, Pectus excavatum, Abnormal optic disc morphology, ... ORPHA:96121
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Abnormality of the gallbladder, Anencep... ORPHA:887
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long philtrum, Ventriculomegaly, Abnormal sacrum morphology, Inguinal h... ORPHA:1988
Cardioacrofacial Dysplasia 2
Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Genu valgum, S... OMIM:619143
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Congenital finger flexion contractures, W... ORPHA:363528
Down Syndrome
Joint hypermobility, Aganglionic megacolon, Patent foramen ovale, Pulmonary artery stenosis, Shor... OMIM:190685
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Aor... ORPHA:261537
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Retrognathia, Long philtrum, Orofacial cleft, Highly arched eyebrow... OMIM:243310
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Sotos Syndrome
Accelerated skeletal maturation, Prolonged neonatal jaundice, Joint hypermobility, Ventriculomega... OMIM:117550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Highly arched eyebrow, Dental crowding, Pectus carinatum, Pectus excavatum,... ORPHA:261552
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pectus carinatum, Aortic valve stenosis, Delayed skeletal maturation, Umbilical hernia, Bicuspid ... OMIM:618164
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Decreased nerve conduction velocity, Joint hypermobility, Aortic aneurysm, Abnorma... ORPHA:477817
Ogden Syndrome
Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Pectus excavatum, Prematur... OMIM:300855
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Disproportionate short-limb short stature, Pulmon... ORPHA:709
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Synophrys, Pulmonic stenosis, Coarct... ORPHA:284169
Loeys-Dietz Syndrome 4
Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos... OMIM:614816
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Polyhydramnios, Gastroesophageal reflux, Aortic aneurysm, Limb hypertonia, ... OMIM:620070
Cantu Syndrome
Delayed skeletal maturation, Umbilical hernia, Bicuspid aortic valve, Long philtrum, Cardiomegaly... OMIM:239850
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Ectopic kidney, Kyphosis, Abnormal heart morphology, Bicuspid aortic valve, Joint... OMIM:301111
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Intrauter... OMIM:270100
Alg12-Cdg
Prolonged prothrombin time, Abnormal bone ossification, Low posterior hairline, Intestinal malrot... ORPHA:79324
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Short humerus, Absent thumb, Absent radius, Renal malrotation, Hypoplasia ... OMIM:607323
Microform Holoprosencephaly
Orofacial cleft, Cyclopia, Iris coloboma, Solitary median maxillary central incisor, Maternal dia... ORPHA:280200
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Aplasia/Hypoplasia of the thumb,... ORPHA:1908
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Optic nerve hypoplasia, Severe short stature, Intrauterine growth retardation, Cran... ORPHA:468631
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Pectus carinatum, Ventricular hypertrophy, Hypertension, Aortic ... OMIM:208050
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Retrognathia, Decreased cirrculating antimullerian hormone circulation... OMIM:300845
Distal 22Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Hyperlordosis, Short distal phalanx of finger, Joint hypermobility, Intrau... ORPHA:261330
Distal Deletion 13Q
Optic atrophy, Renal hypoplasia/aplasia, Anencephaly, Encephalocele, Abnormal form of the vertebr... ORPHA:1590
Sweeney-Cox Syndrome
Short distal phalanx of finger, Widow's peak, Short philtrum, Patent foramen ovale, Asplenia, Pat... OMIM:617746
Distal Deletion 10Q
Facial diplegia, Pectus excavatum, Lateral ventricle dilatation, Craniosynostosis, Hip dislocatio... ORPHA:96148
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Bone marrow hypocellula... OMIM:227646
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Congestive heart failure, Spinal arteriovenous malformation, Abnormality of the k... ORPHA:53721
Aicardi Syndrome
Delayed puberty, Intestinal polyposis, Ventriculomegaly, Optic atrophy, Butterfly vertebrae, Shor... ORPHA:50
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Nail dystrophy, Highly arched eyebrow, Ventricular hypertrophy, ... OMIM:300887
Koolen-De Vries Syndrome
Ureteral duplication, Everted lower lip vermilion, Microdontia, Pectus excavatum, Kyphosis, Bicus... ORPHA:96169
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Pectus excavatum, Umbilical hernia, Joint hypermobility, Telangiectasia, Hydroce... OMIM:612582
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi... OMIM:619657
Fontaine Progeroid Syndrome
Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Delayed skeletal ... OMIM:612289
Noonan Syndrome 2
Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Cardiomyopathy, P... OMIM:605275
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Paranasal ... OMIM:300373
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Broad alveolar ridges, Dental crowding, Hypertension, Intestinal malro... OMIM:270400
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Abnormal sternum morphology, Ventricular hy... OMIM:619656
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypopla... ORPHA:226307
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Hypospa... ORPHA:77298
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Renal hypoplasia/aplas... ORPHA:2092
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Dislocated radial head, Abnormal renal morpholog... OMIM:122470
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal form of the vertebral b... ORPHA:280
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Ascites, Intrauterine growth retardation, Ventriculomegal... ORPHA:1052
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Sacral dimple, Polyhydramnios, Inguinal hernia, Delayed eruption o... OMIM:247200
Pelizaeus-Merzbacher Disease
Optic atrophy, Arteriovenous malformation, Scoliosis, Kyphosis, Joint stiffness, Short stature, R... ORPHA:702
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99228
Monosomy X
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:99226
Turner Syndrome
Delayed puberty, Retrognathia, Cholestatic liver disease, Reduced bone mineral density, Prolonged... ORPHA:881
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Microcolon, Pulmonic sten... OMIM:600001
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... ORPHA:1110
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Abnormal sternum morphology, Hypospadias, Encephalo... ORPHA:1335
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Fronta... ORPHA:261102
Acrocardiofacial Syndrome
Hypospadias, Joint dislocation, Hypoplasia of penis, Truncus arteriosus, Anal atresia, Cryptorchi... ORPHA:2008
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Apla... ORPHA:3426
Axial Spondylometaphyseal Dysplasia
Delayed ossification of carpal bones, Short ribs, Flat acetabular roof, Cupped ribs, Flared, irre... ORPHA:168549
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of... ORPHA:3097
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperlordosis, Everted lower lip vermilion, Microdontia, Pectus excavatum, Short... OMIM:615873
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Widely spaced teeth, Inguinal hernia, Scoliosis, High p... OMIM:618205
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Multicystic kidney dysplasia, Tracheomala... ORPHA:1001
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Gastroesophageal reflux, Short ... OMIM:600987
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Orofacial cleft, Hydrops fetalis, Ectopic kidney, Tracheomalacia... ORPHA:268249
Gorlin Syndrome
Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed... ORPHA:377
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Esophageal a... OMIM:314390
Chromosome 9P Deletion Syndrome
Retrognathia, Highly arched eyebrow, Heart murmur, Long philtrum, Narrow palate, Perimembranous v... OMIM:158170
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Pectus excavatum, Left-to-right shunt, Atlantoaxial abno... ORPHA:1600
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sac... ORPHA:1926
Zaki Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Patent ductus arteriosus, Short philtrum, Patent ... OMIM:619648
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Delayed skeletal maturation, Wide mouth, Dysplastic tricuspid va... OMIM:157800
Distal Monosomy 7Q36
Optic atrophy, Hypoplasia of penis, Non-midline cleft of the upper lip, Pectus excavatum, Short s... ORPHA:1636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral valve prolapse, Umbilical ... ORPHA:1900
Coffin-Siris Syndrome 3
Delayed skeletal maturation, Abnormal heart morphology, Wide mouth, Umbilical hernia, Joint hyper... OMIM:614608
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Hypothalamic hamartoma, Butterfly vertebrae, Hypospadias, Hemivertebrae, ... OMIM:206900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, Descending thoracic aorta aneurysm, Abnormality of connective tissue, Abnormal ster... ORPHA:91387
Hennekam Syndrome
Retrognathia, Arteriovenous malformation, Ectopic kidney, Ascites, Tooth agenesis, Lymphangioma, ... ORPHA:2136
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w... ORPHA:1596
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Arteriovenous fistula, Arterial dissection, Cigarette-paper scars, Bruisi... ORPHA:287
Parkes Weber Syndrome
Arteriovenous malformation, Arteriovenous fistula, Bounding pulse, Cerebral arteriovenous malform... ORPHA:90307
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Abnormal vertebral morphology,... ORPHA:261197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Wide mouth, Recurrent aspiration pneumonia, Dysphagia, Ventriculomega... ORPHA:280633
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Ventriculomegaly, Short philtrum, Scoliosis, S... OMIM:612530
Even-Plus Syndrome
Dysplastic corpus callosum, Highly arched eyebrow, Recurrent urinary tract infections, Patent for... OMIM:616854
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Dental crowding, Pectus carinatum, Hyper... ORPHA:394
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra... OMIM:105650
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Patent foramen ovale, Synophrys, Long eyelashes, Downturned corners of mou... OMIM:615009
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Inguinal hernia, Ventriculomegaly, Hydrocephalus, Metopic synostosis, Delayed crania... OMIM:175700
White-Sutton Syndrome
Congenital diaphragmatic hernia, Optic nerve hypoplasia, Bifid uvula, Sparse hair, Joint hypermob... OMIM:616364
Cerebrofaciothoracic Dysplasia
Low posterior hairline, Wide mouth, Broad philtrum, Ventriculomegaly, Hernia, Scoliosis, Hemivert... ORPHA:1394
Cutis Marmorata Telangiectatica Congenita
Orofacial cleft, Purpura, Reduced bone mineral density, Arteriovenous malformation, Scoliosis, As... ORPHA:1556
Distal Triplication 15Q
Retrognathia, Abnormal sternum morphology, Kyphosis, Abnormal heart morphology, Intrauterine grow... ORPHA:314588
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Neoplasm of the tongue, Thyroid hypoplasia, Bifid uvula, Severe short stature, Join... ORPHA:3047
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Pulmo... ORPHA:2255
Neurooculorenal Syndrome
Highly arched eyebrow, Intestinal malrotation, Decreased circulating cortisol level, Mitral valve... OMIM:620305
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Delayed skeletal maturation, Heart murmur, Pulmonary insufficiency, Aortic regur... ORPHA:2326
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Dislocated radial head, Dental crowdi... OMIM:268310
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Retrognathia, Thin vermilion border, Atrioventricular canal defect,... OMIM:613792
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Dislocated wrist, Umbilical hernia, Bicuspid ... ORPHA:536545
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Low posterior hairline, Wide mouth... OMIM:619720
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Retrognathia, Duodenal ulcer, Ectopic kidney, Dislocated radial ... OMIM:135900
Kabuki Syndrome 1
Highly arched eyebrow, Premature thelarche, Intestinal malrotation, Recurrent aspiration pneumoni... OMIM:147920
Down Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Microdontia, Delayed skeletal maturation, Sparse hair,... ORPHA:870
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Penoscrotal transposition, Advanced... OMIM:619148
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Long philtru... OMIM:265000
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Neoplasm of the thyroid gland, Reduced bone mineral density, Arterioven... ORPHA:137608
Oculoectodermal Syndrome
Bladder exstrophy, Giant cell granuloma of mandible, Lymphedema, Transient ischemic attack, Hyper... OMIM:600268
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Morgagni diaphragmatic hernia, Ascites, Umbilical hernia, Long philtrum, Joint hype... OMIM:613177
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Sy... OMIM:617478
Pseudoaminopterin Syndrome
Limited elbow movement, Highly arched eyebrow, Pectus excavatum, Microdontia, Sacrococcygeal pilo... ORPHA:221120
Renpenning Syndrome
Pectus excavatum, Joint stiffness, Severe short stature, Hypospadias, Short philtrum, Cleft palat... ORPHA:3242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Spinal rigidity, Transposition of the great arteries, Encephal... OMIM:253800
Trisomy 13
Kyphosis, Multiple renal cysts, Long philtrum, Intrauterine growth retardation, Hernia, Optic atr... ORPHA:3378
Feingold Syndrome 1
Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Aspl... OMIM:164280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Hydrocephalus, Kyphosis, Vascular ring, Skeletal muscle atrophy, Thorac... OMIM:603387
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Atrial septal defect, Unilateral renal agenesis, Highly arched eyebrow, High palate... OMIM:618142
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Pectus excavatum, Absent tibia, Short me... OMIM:609945
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Highly arched eyebrow, Microdontia, Pulmonic stenosis, Long philtrum, Sho... OMIM:610759
Loeys-Dietz Syndrome 2
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:610168
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intesti... OMIM:618280
Sandestig-Stefanova Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Orofa... OMIM:618804
Fryns Syndrome
Ureteral duplication, Meckel diverticulum, Intestinal malrotation, Wide mouth, Thoracic hypoplasi... OMIM:229850
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Bruising suscepti... OMIM:618000
Trisomy 18
Congenital diaphragmatic hernia, Anencephaly, Delayed skeletal maturation, Intrauterine growth re... ORPHA:3380
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Cryptorchidism, Intestina... OMIM:615524
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Amelia, Tracheoesophageal fistula, Intestinal malrotation, Aplastic cla... ORPHA:2538
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Arthritis, Ascending tubular aorta aneurysm, Scoliosi... OMIM:619825
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal heart... ORPHA:353281
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Broad eyebrow, Co... OMIM:619343
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,... ORPHA:268882
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Abnormal heart morphology, Bifid u... ORPHA:500150
Carpenter Syndrome 1
Pulmonic stenosis, Umbilical hernia, Genu varum, Optic atrophy, Transposition of the great arteri... OMIM:201000
Jacobsen Syndrome
Pectus excavatum, Intrauterine growth retardation, Optic atrophy, Hypospadias, Hydrocephalus, Hol... OMIM:147791
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Pectus carinatum, Intestinal malrotation, Enamel agenesis, Long philtrum, ... OMIM:614701
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Bifid uvula, Ovarian cyst, Ab... OMIM:188400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Arteriovenous malformation, Hydrocephalus, Cerebral ischemia, Wide mouth, Telangie... ORPHA:60040
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Total anomalous pulmonary venous return, Dilated fourth ventricle, Co... ORPHA:261183
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop... OMIM:117650
Gm1-Gangliosidosis, Type I
Kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Splenomegaly, Intr... OMIM:230500
Ring Chromosome 21 Syndrome
Diabetes insipidus, Scoliosis, Short stature, Abnormal heart morphology, Holoprosencephaly, Thora... ORPHA:1445
Pagod Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal clavicle morphology, Optic at... ORPHA:991
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Temporomandibular joint ankylosis, Wide mouth, Abs... OMIM:154400
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Inguinal hernia, Macrocytic... OMIM:614294
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,... ORPHA:353277
Okamoto Syndrome
Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota... ORPHA:2729
Loeys-Dietz Syndrome 3
Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinat... OMIM:613795
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Kyphosis, Umbilical hernia, Perimembranous ventricular septal def... OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Joint hyper... OMIM:300967
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Scoliosis, Abnormal rib morphology... ORPHA:1488
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... ORPHA:1780
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Bicuspid aorti... OMIM:604381
Isotretinoin-Like Syndrome
Postnatal growth retardation, Abnormal aortic arch morphology, Gastroesophageal reflux, Inguinal ... ORPHA:2306
Mirage Syndrome
Leukopenia, Lymphopenia, Intrauterine growth retardation, Adrenal insufficiency, Hypospadias, Pet... OMIM:617053
Distal Deletion 12Q
Kyphoscoliosis, Ectopic kidney, Biliary atresia, Pituitary adenoma, Long philtrum, Fine hair, Pol... ORPHA:96149
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Sacral dimple, Dilation of Virchow-Robin spaces, Polyhy... ORPHA:544488
Proteus Syndrome
Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Asymmetry of the thorax, Abnormal... ORPHA:744
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis... ORPHA:373
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Dysphagia, Long philtrum, Joint hypermobility, Oligohydramnios, Patent... OMIM:618494
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent jo... OMIM:619472
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Rabson-Mendenhall Syndrome
Premature graying of hair, Dental crowding, Cardiomyopathy, Delayed skeletal maturation, Nephroca... ORPHA:769
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Highly ... OMIM:301044
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Truncus arteriosus, Short stature, Cleft palate, Malar flattening, Smooth ... OMIM:611867
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Hypospadias, Narrow mouth, Decreased testic... OMIM:300978
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Prolonged bleeding following circumcision, Bilateral r... OMIM:274000
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Prolonged QT interval, Pectus excavatum, Low posterior hairline, Delayed skeleta... ORPHA:1772
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Abnormal heart morphol... ORPHA:85443
Ellis-Van Creveld Syndrome
Epispadias, Neonatal short-limb short stature, Genu valgum, Hypospadias, Narrow chest, Delayed er... OMIM:225500
Lessel-Kreienkamp Syndrome
Atrial septal defect, Gastroesophageal reflux, Patent foramen ovale, Pulmonic stenosis, Wide cran... OMIM:619149
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Chilton-Okur-Chung Neurodevelopmental Syndrome
Asymmetry of the thorax, Highly arched eyebrow, Pectus excavatum, Septo-optic dysplasia, Wide mou... OMIM:619841
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Small hand, Mandibular prognathia, Scoli... ORPHA:284180
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal en... ORPHA:280195
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Patent ductus art... ORPHA:2184
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Cubitus valgus, Prolonged QT interval, Short philtrum, Tooth malpositio... ORPHA:529962
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalan... OMIM:601355
Trichorhinophalangeal Syndrome, Type Ii
Pectus excavatum, Short metacarpal, Sparse hair, Bicuspid aortic valve, Joint hypermobility, Cere... OMIM:150230
Yuan-Harel-Lupski Syndrome
Talipes valgus, Long philtrum, Decreased nerve conduction velocity, Aortic root aneurysm, High pa... OMIM:616652
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Short philtrum, Mandibular prognathia, Thyroid hypoplasia, Nephrolithi... ORPHA:521445
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Retrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Periportal... OMIM:263210
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, 11 pairs of ribs, Pectus e... OMIM:618624
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Enlarged kidney, Truncu... OMIM:615415
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Pulmonic stenosis, Frontal hirsutism, Micrognath... ORPHA:3304
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Arteriovenous malformation, Bone pain, Volvulus, Intestinal bleedin... ORPHA:1059
Monosomy 18P
Kyphoscoliosis, Short philtrum, Tooth malposition, Enlarged thorax, Hypertension, Pectus excavatu... ORPHA:1598
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Low posterior hairline, D... OMIM:194190
Fanconi Anemia, Complementation Group R
Anemia, Hydrocephalus, Pelvic kidney, Scoliosis, Anal atresia, Growth delay, Bone marrow hypocell... OMIM:617244
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypoplasia of the radius, Postnatal growth retardation, Acute myeloid leukemia, ... OMIM:610832
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Hydranencephaly, Enlarged thorax, Limitation of joint mobility, Camptod... ORPHA:2570
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypopla... OMIM:616589
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Renal insufficiency, Ventriculomegaly, Short clavicles, Vesicoureteral ... OMIM:617159
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Long philtrum, Ventriculomegaly, Joint hypermobility, Hip dislocation, Sacral dimple... OMIM:300968
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Short philtrum, Curly eyelashes, Scolios... OMIM:301022
Distal Duplication 15Q
Congenital muscular torticollis, High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint ... ORPHA:1707
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Pectus excavatum, Short metacarpal, Pulmonic stenosis, B... OMIM:617137
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Low posterior hairline, Long philtrum, Sacral dimple, Short philtrum, Hydrocepha... ORPHA:261337
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Coloboma, Hemivertebrae, Hirsutism, Anal atresia, Short stature, Bicuspid aortic v... OMIM:619318
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Congenital megaureter, Hydrocephalus, Hypoplastic nipples, Hi... ORPHA:2437
49,Xxxxy Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypogonadism, Joint hypermobility, Hip dislocation... ORPHA:96264
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Intrauterine growth ... ORPHA:84064
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Abnormality of connective tissue, Vasculitis, Stroke, Hypertension, ... ORPHA:494424
Loeys-Dietz Syndrome 1
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:609192
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Orofacial cleft, Congenital diaphragmatic hernia, Hypospadias, Scol... ORPHA:1520
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Semilob... OMIM:618651
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Cervical myelopathy, Urinary incontinence, Venous malformation... ORPHA:79093
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Hyperlordosis, Short foot, Short stature, ... OMIM:617450
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Abnormal bleeding, Arteriovenous malformation, Enlarg... ORPHA:247245
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Currarino Syndrome
Aplasia/Hypoplasia of the sacrum, Arteriovenous malformation, Hypospadias, Hypoplasia of penis, A... ORPHA:1552
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Inguinal hernia,... OMIM:192430
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Aortic valve stenosis, Intestinal malrotation, Bone marrow... ORPHA:2308
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Abnormal gastr... ORPHA:2847
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Dislocated radial head, Long p... OMIM:619512
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Dysphagia, Joint hypermobility, Short 5th finger, Intrauterine growth retar... OMIM:619522
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Bronchiectasis, Goiter OMIM:617577
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb u... OMIM:613630
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Congestive heart failure, Hepatic hemangioma, Avascular necrosis, Peripheral arterio... ORPHA:141184
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism, Neonatal death, Ventriculom... OMIM:613730
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism,... ORPHA:90674
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Orofacial cleft, Abnormal lung lobation, Polyhydramnios, Hydrocephalus, Narrow mou... ORPHA:3301
Oeis Complex
Myelomeningocele, Intestinal malrotation, Absence of the sacrum, Hydrocephalus, Pelvic kidney, He... OMIM:258040
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Long philtrum, Genu valgum, Gastroesophageal reflux, Mandibular prognathia, Scoliosis, Prominent ... OMIM:619721
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter... ORPHA:3384
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Pectus excavatum, Microdontia, Bifid uvula, Long philtrum, Bicuspid aortic... OMIM:612474
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormal bleeding, Abnormality of the musculature of the limbs, Arterio... ORPHA:137667
Caudal Regression Syndrome
Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Maternal diabetes, Ectop... ORPHA:3027
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Scoliosi... OMIM:212780
Opitz-Kaveggia Syndrome
Dental crowding, Intestinal malrotation, Abnormal heart morphology, Wide mouth, Sparse hair, Umbi... OMIM:305450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Congenital muscular torticollis, Wide anterior fontanel, Patent foramen ovale, Sco... ORPHA:457279
Marfan Syndrome
Kyphoscoliosis, Retrognathia, Spondylolisthesis, Dental crowding, Pectus carinatum, Pectus excava... OMIM:154700
Catel-Manzke Syndrome
Highly arched eyebrow, Scoliosis, Glossoptosis, Pectus excavatum, Oral synechia, Joint stiffness,... ORPHA:1388
Fibrochondrogenesis 1
Short ribs, Thoracic hypoplasia, Long philtrum, Posterior rib cupping, Long clavicles, Fibular hy... OMIM:228520
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Splenomegaly, Intrauterine growth retardation, Perimembranous ventricular septal de... OMIM:608779
Mosaic Trisomy 16
Meckel diverticulum, Abnormal heart morphology, Wide mouth, Craniofacial asymmetry, Intrauterine ... ORPHA:1708
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Monosomy 13Q34
Osteochondrosis, Prolonged prothrombin time, Pulmonic stenosis, Common atrium, Micrognathia, Grow... ORPHA:96168
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pterygium, P... ORPHA:2876
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Growth delay, Micrognath... ORPHA:1727
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Wolff-Parkinson-White syndrome, Delayed eruption ... ORPHA:369950
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hypertension, C... ORPHA:52
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral... OMIM:142900
Feingold Syndrome Type 1
Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri... ORPHA:391641
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypert... OMIM:620135
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Hydrocephalus, Non-... ORPHA:2075
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Kyphosis, Cryptorchidism, Pulmonic stenosis, Camptodactyly, Microg... OMIM:619123
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Anal stenosis, Ventriculomegaly, Vesicoureteral reflux, Anal atresia, Grow... OMIM:614749
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Abnormal aortic arch morphology, Short ribs, Pectus excavatum, Thor... ORPHA:96334
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... ORPHA:2260
Myhre Syndrome
Hypertension, Aortic valve stenosis, Joint stiffness, Generalized muscle hypertrophy, Sparse hair... OMIM:139210
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Acetabular ... ORPHA:79255
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Optic atrophy, Sea-blue histiocytosis, Platyspondyly, Hepatomegaly, ... OMIM:230600
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short ribs, Decreased skull ossification... OMIM:215140
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Desmosterolosis
Rhizomelia, Gingival fibromatosis, Hydrocephalus, Total anomalous pulmonary venous return, Microg... OMIM:602398
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hepatomegaly, Foam cells, Hypoplastic acetabulae, Scoliosis... OMIM:230650
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac... OMIM:616462
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Facial palsy, Atrophic scars, Cerebral hemorrhage, Lymphop... OMIM:182410
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Anal atresia, Tetralog... ORPHA:1381
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Pectus carinatum, Pectus excavatum, Short me... OMIM:150250
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Pericarditis, Long philtrum, Craniosynostosis, Ventriculomegaly,... ORPHA:1272
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Orofacial cleft, Cyclopia, Hypoplasia of the radius, Renal hypoplasia/apl... ORPHA:3186
Non-Involuting Congenital Hemangioma
Congestive heart failure, Hepatic hemangioma, Peripheral arteriovenous fistula, Thrombocytopenia,... ORPHA:141179
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Joint hypermobility, Intrauterine growth re... OMIM:601808
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Bilateral cleft palate, Coloboma, Scoliosis, Amelia, Omphalocele, Cleft u... OMIM:601357
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Recurrent respiratory infections, Recurrent urin... OMIM:616777
Distal Deletion 10P
Hypoplasia of penis, Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, Joint stiffn... ORPHA:1580
De Barsy Syndrome
Kyphoscoliosis, Pectus excavatum, Delayed skeletal maturation, Sparse hair, Umbilical hernia, Int... ORPHA:2962
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Abnormal optic disc morphology, R... ORPHA:397715
Congenital Tracheomalacia
Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Pulmon... ORPHA:95430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Ureteral duplication, Short distal phalanx of finger, Long philt... OMIM:614080
Becker Nevus Syndrome
Lipoatrophy, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Micro... ORPHA:64755
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Kbg Syndrome
Oligodontia, Thoracic kyphosis, Scoliosis, Synophrys, Persistent open anterior fontanelle, Delaye... ORPHA:2332
12Q14 Microdeletion Syndrome
Thin vermilion border, Osteopoikilosis, Ectopic kidney, Scoliosis, Intrauterine growth retardatio... ORPHA:94063
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Wide mouth, Hypoplasia of facial musculature, Cervical r... OMIM:164210
Baller-Gerold Syndrome
Limited elbow movement, Anomalous splenoportal venous system, Carpal bone aplasia, Optic nerve hy... OMIM:218600
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Stroke, ... OMIM:132900
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short ribs, Flat acetabular roof, Hypoplastic facial bones, Fibular hypoplasia, Rhizomelia, Encep... OMIM:616300
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Ectopic kidney, Abnormality of the vertebral column, Narrow mouth,... OMIM:239800
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Pectus carinatum, Tracheoesophageal fi... ORPHA:958
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, High palate, C... OMIM:614846
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Scoliosis, Anal atresia OMIM:246000
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Macrocytic anemia, Duplicated collecting system, Micrognathia... OMIM:620071
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Pectus carinatum, Optic nerve hypoplasia, Pectus excavatum, Low posterior ... OMIM:617506
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Optic nerve hypoplasia, Septo-optic dysplasia, Colpoce... OMIM:301043
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ... OMIM:192350
Weiss-Kruszka Syndrome
Highly arched eyebrow, Exaggerated cupid's bow, Prominent metopic ridge, Dextrotransposition of t... OMIM:618619
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Highly arched eyebrow, Optic nerve hypoplasi... OMIM:602535
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Short stature, Growth delay, Abnormality o... OMIM:614886
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Pro... ORPHA:2143
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Bone pain, Papillary thyro... ORPHA:319487
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Umbilical hernia, L... OMIM:300166
Giant Cell Arteritis
Cerebral ischemia, Joint stiffness, Pericarditis, Epistaxis, Optic atrophy, Diabetes insipidus, V... ORPHA:397
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Dandy-Walker malformation, Cleft ... OMIM:615948
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short ribs, Low posterior hairline, Esophageal diverticulum, Fibular hypoplasia, Cleft palate, Lo... OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus, Histiocytoid cardiomyopathy, Anal at... OMIM:309801
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:438213
Hypermobile Ehlers-Danlos Syndrome
Anorectal anomaly, Dental crowding, Abnormal autonomic nervous system physiology, Microdontia, Ar... ORPHA:285
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Sparse hair, Um... OMIM:280000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Narrow palate, Long philtrum, Pulmonary insufficiency, Thick lower lip vermilion, Aortic regurgit... ORPHA:555877
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Gastroesophageal reflux, Tr... ORPHA:513456
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Abnormality of the adrenal glands, Intestinal polyposis... ORPHA:252164
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Anal atresia, Short stature, Hydronephrosis, C... ORPHA:195
Diastrophic Dysplasia
Abnormal clavicle morphology, Short finger, Neonatal short-limb short stature, Joint dislocation,... ORPHA:628
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Dysphagia, Agenesis of corpus callosum, Microretrognath... ORPHA:89844
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Platyspondyly, Narrow chest, Disproportionate short-li... ORPHA:2655
Meckel Syndrome
Ureteral duplication, Anencephaly, Pancreatic fibrosis, Oligohydramnios, Optic atrophy, Encephalo... ORPHA:564
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Arachnoid Cyst
Urinary incontinence, Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Sciatica... ORPHA:2356
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Mitral valve prolapse, Umbilical hern... OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, Pectus exc... ORPHA:536467
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Alobar holoprosencephaly, High palate, Kyphosis, Decreased testicular size, Agene... OMIM:615433
X Small Rings
Long philtrum, Reduced bone mineral density, Aortic root aneurysm, Upper limb undergrowth, Osteop... ORPHA:96201
Stormorken Syndrome
Abnormal bleeding, Anemia, Hematuria, Short philtrum, Howell-Jolly bodies, Asplenia, Short statur... OMIM:185070
Aortic Aneurysm, Familial Thoracic 10