Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dync2h1 MGI:107736

Gene Summary

Name:

dynein cytoplasmic 2 heavy chain 1

Synonyms:

Dnchc2, 4432416O06Rik, m407Asp, DHC2, DHC1b, m152Asp, D030010H02Rik, b2b414Clo, D330044F14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Dync2h1^{em1(IMPC)Rbrc}	HOM		Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Dync2h1 mutations

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

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

Human diseases associated with Dync2h1 (3 diseases)
Human diseases predicted to be associated with Dync2h1 (1368 diseases)

The table below shows human diseases associated to Dync2h1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Jeune Syndrome	Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Abnormal pelvic gir...	ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotatio...	OMIM:613091
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Esophageal atresia, Hypoplasia of penis, Abnormal pelvis bone oss...	ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2h1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Hamartoma of tongue, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad ...	OMIM:217085
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malformation of t...	ORPHA:294975
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Mandibular prognathia...	OMIM:619143
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Proximal pla...	OMIM:314390
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Pseudotrisomy 13 Syndrome	Cyclopia, Tricuspid atresia, Hypotelorism, Dextrocardia, Encephalocele, 11 pairs of ribs, Hydroce...	OMIM:264480
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve...	OMIM:619343
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre...	ORPHA:2437
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, A...	OMIM:306955
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Hypoplasia of the maxilla, Lim...	OMIM:619142
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasi...	ORPHA:1908
17Q12 Microduplication Syndrome	Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atrial septal defect,...	ORPHA:261272
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression	OMIM:608220
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Micrognathia, Hypertelorism, Coronary-pulmonary artery fistula	OMIM:619699
White Forelock With Malformations	Prominent veins on trunk, Bronchomalacia, Aplasia/Hypoplasia of the distal phalanges of the toes,...	OMIM:277740
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Hadziselimovic Syndrome	Hypotelorism, Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal atresia, Renal...	OMIM:612946
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
6P22 Microdeletion Syndrome	Hypotelorism, Hydrocephalus, Finger syndactyly, Hydronephrosis, Patent ductus arteriosus, Deeply ...	ORPHA:251046
Xk Aprosencephaly Syndrome	Hypotelorism, Anal atresia, Atrial septal defect, Ventricular septal defect, Abnormal morphology ...	ORPHA:3469
Acalvaria	Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Ho...	ORPHA:945
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, High palate, Tracheoesophageal f...	OMIM:620511
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Encephalocele, Hydrocephalus, Proptosis, Micromelia, Holoprosence...	ORPHA:93274
Ellis-Van Creveld Syndrome	Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic...	OMIM:225500
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Broad palm, Clinodactyly, Aganglionic megacolon, Patent foram...	OMIM:190685
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fistula, Intestinal malrotati...	ORPHA:2538
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypotelorism, Hypospadias, Pulmonary sequestration, Patent ductus arteriosus, Atrial septal defec...	OMIM:618330
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Bilateral r...	OMIM:300514
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Acces Syndrome	Retrognathia, Clinodactyly of the 5th finger, Ectrodactyly, Tracheoesophageal fistula, Split foot...	OMIM:619959
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Vacterl/Vater Association	Occipital encephalocele, Abnormality of the urethra, Anencephaly, Anorectal anomaly, Ectopic kidn...	ORPHA:887
Tonne-Kalscheuer Syndrome	Hypotelorism, Hypospadias, Broad thumb, Velopharyngeal insufficiency, Abnormal heart morphology, ...	OMIM:300978
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Patent ductus arteriosus, Overlapping toe, Atrial s...	OMIM:618974
10Q22.3Q23.3 Microduplication Syndrome	Hypotelorism, Hypospadias, Tetralogy of Fallot, Microretrognathia, Deeply set eye	ORPHA:276422
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Dilatation of renal calices, Ventricular septal defect, Lo...	OMIM:614294
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic ...	OMIM:265380
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Proptosis, Hypospadias, Cleft palate, Urethral stricture, Preax...	OMIM:617063
Distal Deletion 13Q	Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Aplasia/Hypo...	ORPHA:1590
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Tracheomalacia, Hydrocephalus, Tracheoesophageal fistula, Foot polydactyly, Short...	ORPHA:268249
Meacham Syndrome	Congenital alveolar dysplasia, Enlarged kidney, Transposition of the great arteries, Dextrocardia...	OMIM:608978
Holoprosencephaly 5	Semilobar holoprosencephaly, Hypotelorism, Alobar holoprosencephaly, Hydrocephalus, Syntelencepha...	OMIM:609637
Delpire-Mcneill Syndrome	Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Weyers Acrofacial Dysostosis	Hypotelorism, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydacty...	OMIM:193530
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th finger, 2-3 toe syndactyly...	ORPHA:476126
Methimazole Embryofetopathy	Esophageal atresia, Hypospadias, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctati...	ORPHA:1923
Hamamy Syndrome	Clinodactyly of the 5th finger, Dental malocclusion, Long toe, Short 2nd finger, High palate, Ena...	OMIM:611174
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Hypospadias, Hypoplasia of penis, Hydrocephalus, 11 pairs of ribs, Tracheoeso...	ORPHA:77298
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Retrognathia, Polycystic kidney dysplasia, Postaxial hand ...	OMIM:619879
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Tracheoesophageal ...	ORPHA:210122
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morpho...	ORPHA:1834
Triploidy	Hypospadias, Meningocele, Hydrocephalus, Finger syndactyly, Hypoplasia of penis, Macroglossia, In...	ORPHA:3376
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Finger syndactyly, Tracheo...	ORPHA:59315
Congenital Tracheomalacia	Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Bronch...	ORPHA:95430
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Hypotelorism, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularizatio...	ORPHA:1952
Craniofacial Conodysplasia	Spinal cord compression	ORPHA:85168
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Radial deviation of the 2nd finger, Camptodactyly o...	ORPHA:1388
Monosomy 13Q34	Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Micrognathia, Hematochezia, Hyperte...	ORPHA:96168
Ring Chromosome 21 Syndrome	Narrow palm, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand	ORPHA:1445
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Trisomy 1Q	Hypotelorism, Congenital megaureter, Hydrocephalus, Anal atresia, Arachnodactyly, Camptodactyly o...	ORPHA:261344
Pallister-Hall Syndrome	Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Trisomy 13	Bilateral single transverse palmar creases, Abnormal lung lobation, High, narrow palate, Hypotelo...	ORPHA:3378
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal lung lobation, At...	ORPHA:1120
Agnathia-Otocephaly Complex	Situs inversus totalis, Tracheomalacia, Mandibular aplasia, Micrognathia, Secundum atrial septal ...	OMIM:202650
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, Hypotelorism, Gastroesophageal reflux, Penoscrotal hypospadias, 2-3 toe...	OMIM:617164
Congenital Contractural Arachnodactyly	Aortic aneurysm, High palate, Tracheoesophageal fistula, Intestinal malrotation, Camptodactyly of...	ORPHA:115
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ...	ORPHA:2511
Lambotte Syndrome	Semilobar holoprosencephaly, Retrognathia, Preaxial foot polydactyly, Ventricular septal defect, ...	OMIM:245552
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Micrognathia, Holoprosencephaly, Abnormal pleura morpho...	ORPHA:2570
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Hypotelorism, Hydrocephalus, High palate, Pleural effusion, Camptodactyly, C...	OMIM:617822
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Renal hypopla...	OMIM:615996
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect, Hypotelorism, Clinodactyly of the 5th finger	OMIM:314320
Holt-Oram Syndrome	Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal morphology, Patent ductus...	ORPHA:392
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu...	ORPHA:401935
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping fingers, Preaxial polydactyly, Retrognathia, Unilateral renal agenesis, Ventricular s...	OMIM:618142
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal ...	ORPHA:141127
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Hypotelorism, Proximal placement of t...	OMIM:602418
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hypotelorism, Clinodactyly of the 5th finger, Gastroesophageal reflux, Single transverse palmar c...	OMIM:614701
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Fanconi Anemia	Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Meckel...	ORPHA:84
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect, Hypotelorism, Fifth finger distal phalanx clinodactyly	ORPHA:3369
Mosaic Trisomy 9	Rocker bottom foot, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Hip disloc...	ORPHA:99776
Frontoocular Syndrome	Hypotelorism, High palate, Proptosis, Pulmonic stenosis, Micrognathia, Atrial septal defect	OMIM:605321
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Short ribs, Intestinal malrotation, Cystic renal dysplasia, Short f...	OMIM:269860
Maternal Phenylketonuria	Hypotelorism, Esophageal atresia, High palate, Coarctation of aorta, Abnormal heart morphology, T...	ORPHA:2209
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Hypotelorism, Clinodactyly of the 5th finger, Hypoplasia of penis,...	ORPHA:3082
Fanconi Anemia, Complementation Group D2	Hypotelorism, Esophageal atresia, Ectopic kidney, Hydrocephalus, Pelvic kidney, Tracheoesophageal...	OMIM:227646
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Bilateral cleft palate, Amelia, Holoprosencephaly, Foot oligodactyly, Sho...	OMIM:601357
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Hypotelorism, Clinodactyly of the 5th finger, Camptodactyly, Pulmo...	OMIM:619123
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Urethral valve, Aplasia/Hypo...	OMIM:107480
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele	OMIM:615397
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Radial club hand, Proptosis, Cleft palate, Holoprosencephaly, Abnormal cerebral vascula...	ORPHA:2165
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Chromosome 1Q41-Q42 Deletion Syndrome	Hypotelorism, Sandal gap, High palate, Cleft palate, Holoprosencephaly, Pulmonary hypoplasia, 3-4...	OMIM:612530
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Abnormal heart morphology, Dysphagia, Short 5th ...	ORPHA:508488
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Hypotelorism, Gastroesophageal reflux, Single transverse palmar crease, Glossoptosis, High palate...	OMIM:613604
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Finger syndactyly, Spli...	ORPHA:958
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Cyclopia, Hypotelorism, Hypospadias, Encephalocele, Hypoplasia of penis, ...	ORPHA:2166
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Opitz Gbbb Syndrome	Tracheoesophageal fistula, Abnormal heart morphology, Recurrent aspiration pneumonia, Dysphagia, ...	ORPHA:2745
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Intestinal atresia, Tracheoesophageal fistula, Abnormal cardiac septum morphology	ORPHA:93941
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Fibular bowing, Hypospadias, Hydrocephalu...	OMIM:612651
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Hypotelorism, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1515
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Proptosis, Clinodactyly, Hip dislocation, Acute kidney inju...	ORPHA:96148
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Thakker-Donnai Syndrome	Transposition of the great arteries, Rectovaginal fistula, Tracheoesophageal fistula, Communicati...	ORPHA:1780
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Hypospadias, Hydrocephalus, Postaxial hand po...	OMIM:175700
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormality of the hand, Hypotelorism, High palate, Furrowed tongue, Abnormal distal phalanx morp...	ORPHA:1387
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Hypotelorism, Rhizomelia, Clinodactyly of the 5th finger, Duodenal atresi...	OMIM:614114
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Atrial septal defect, Apl...	ORPHA:52056
Distal Monosomy 7Q36	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1636
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Hydrolethalus Syndrome 1	Abnormal lung lobation, Anencephaly, Talipes equinovarus, Hypospadias, Upper limb undergrowth, Po...	OMIM:236680
Baller-Gerold Syndrome	Abnormal carpal morphology, Hypotelorism, Abnormal metacarpal morphology, Aplasia/Hypoplasia of t...	ORPHA:1225
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydrocephalus, Anal atresia, Missing ribs, Pulmonic stenosis, Aortic valve stenosis,...	OMIM:220210
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defec...	OMIM:620024
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Pulmonic stenosis, Abnormal mitral valve morph...	ORPHA:7
Esophageal Atresia	Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Clin...	ORPHA:1199
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Retrognathia, Clinodactyly of the 5th finger, Esophageal atresia, Spina ...	OMIM:301030
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Hypotelorism, Clinodactyly of the 5th finger, Mandibular prognathia, Malar flattening, Hip dyspla...	OMIM:618672
10Q22.3Q23.3 Microdeletion Syndrome	Tricuspid valve prolapse, Atrioventricular canal defect, Hypotelorism, Intestinal polyposis, Arac...	ORPHA:276413
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Cone-shaped epiphysis, Hypospadias, Bilateral coxa valga, Sho...	ORPHA:439822
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Tracheoesophageal fistula, Syndactyly, Absent radius, Hy...	OMIM:192350
Leopard Syndrome 1	Limited elbow movement, Cubitus valgus, Hypospadias, Spina bifida occulta, Unilateral renal agene...	OMIM:151100
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Postaxial hand polydactyly, Syndactyly	OMIM:615938
Acrootoocular Syndrome	Short finger, High, narrow palate, Grayish enamel, Hypotelorism, Supernumerary tooth, Sandal gap,...	ORPHA:2980
Feingold Syndrome 1	Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, 2-3 toe...	OMIM:164280
Schisis Association	Anencephaly, Encephalocele, Anal atresia, Micromelia, Spina bifida, Tracheoesophageal fistula, Cl...	ORPHA:63862
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Homocystinuria, Glossitis, Cystathioninuria, High palate, Tracheoesophageal fistula...	OMIM:277380
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Hypoplas...	ORPHA:3068
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hypoplasia of penis, Proptosis, Mesomelia, Hip dislocation, Tracheal...	ORPHA:818
49,Xxxxy Syndrome	Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Gastroesophageal reflux, Hypopl...	ORPHA:96264
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Muscular ventricular septal defect, Esophageal atresia, Spina bifida occulta, Unila...	OMIM:619227
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Hypotelorism, Gastroesophageal reflux, Prominent fingertip pads, High palate, Arachnodactyly, Mic...	OMIM:300986
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect, Ventricular ...	OMIM:249670
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, Gastroesophageal reflux, ...	OMIM:600987
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Tracheal bronchus, Broad thumb, Syndactyly, Dark urine, Stage 5 ...	OMIM:619534
Braddock Syndrome	Hypotelorism, Unilateral renal agenesis, Missing ribs, Micrognathia, Pulmonary fibrosis, Preaxial...	ORPHA:52047
Carpenter Syndrome	Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Postaxial hand polydactyly...	ORPHA:65759
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Hypotelorism, Syndactyly	OMIM:619091
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Patent ductus arteriosus, Tracheomalacia, Ventricular hypertro...	OMIM:612561
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Holoprosencephaly, Tapered finger	OMIM:300706
Chromosome 6Q11-Q14 Deletion Syndrome	Hypotelorism, Single transverse palmar crease, High palate, Micrognathia, Hypertelorism, Talipes ...	OMIM:613544
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Malar flattening, Deeply set eye, Hyperte...	OMIM:615984
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
14Q11.2 Microdeletion Syndrome	High palate, Toe clinodactyly, Micrognathia, Patent ductus arteriosus, Toe syndactyly, Deeply set...	ORPHA:261120
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Hypotelorism, Single transverse palmar crease, Slender finger, Arachnodactyly, Micr...	OMIM:615656
Trisomy 18	Bilateral single transverse palmar creases, Narrow palate, Cyclopia, Anencephaly, Abnormal hip bo...	ORPHA:3380
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ...	ORPHA:2879
Coronary Artery Dissection, Spontaneous	Coronary artery dissection, Cystic medial necrosis	OMIM:122455
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Esophageal atresia, Tracheoesophageal fistula, Missing ribs, Hype...	OMIM:619859
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Oculodentodigital Dysplasia	Clinodactyly, Taurodontia, Carious teeth, Cleft palate, Preaxial hand polydactyly, Toe syndactyly...	ORPHA:2710
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Hypotelorism, Rhizomelia, Flared metaphysis...	OMIM:602471
2Q23.1 Microduplication Syndrome	Abnormality of the hand, Hypotelorism, Clinodactyly of the 5th finger, Sandal gap, Gastroesophage...	ORPHA:313947
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Bowing of the long bones, Camptodactyly, Renal cyst, Posta...	OMIM:614815
Pentasomy X	Clinodactyly of the 5th finger, Patent ductus arteriosus, Abnormal cardiac septum morphology, Cam...	ORPHA:11
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypotelorism, Patent ductus arteriosus, Recurrent respiratory infections, Short foot, Anal atresi...	OMIM:300968
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Cleft palate, Aplasia/Hypoplasia of the radiu...	ORPHA:2117
Vissers-Bodmer Syndrome	Holoprosencephaly, Tapered finger	OMIM:619033
Hereditary Mucoepithelial Dysplasia	Hematuria, Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, Rec...	ORPHA:1839
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Infantile Myofibromatosis	Abnormal metaphysis morphology, Intestinal obstruction, Abnormal intestine morphology, Neoplasm o...	ORPHA:2591
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, High palate, Camptodactyly, Arachnodactyly, Hydronephrosi...	OMIM:614846
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus	ORPHA:1208
Cutis Laxa, Autosomal Recessive, Type Iib	Hypotelorism, Gastroesophageal reflux, Hydrocephalus, High palate, Bowing of the long bones, Cong...	OMIM:612940
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping fingers, Parachute mitral valve, Hypospadias, Gastroesophageal reflux, Long toe, Recu...	OMIM:618316
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Common atrium, Micrognathia, Dental malocclus...	OMIM:612731
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
1Q41Q42 Microdeletion Syndrome	Hypotelorism, Submucous cleft hard palate, Cleft palate, Holoprosencephaly, Pulmonary hypoplasia,...	ORPHA:250999
Charge Syndrome	Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysp...	OMIM:214800
Li-Campeau Syndrome	Patellar hypoplasia, Patent ductus arteriosus, Single transverse palmar crease, Patent foramen ov...	OMIM:619189
8P23.1 Microdeletion Syndrome	Atrioventricular canal defect, Transposition of the great arteries, Proximal placement of thumb, ...	ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Hypotelorism, Clinodactyly of the 5th finger, Patent foramen ovale,...	OMIM:618454
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Tracheoesophage...	OMIM:614083
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Hypotelorism, Hypospadias, Micrognathia, Bifid uvula, 3-4 finger cu...	OMIM:164220
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, High palate, Hypertelorism, Micropenis	OMIM:615433
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Short long bone, Camp...	OMIM:113000
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Toe syndactyly, Deeply set eye, Ventricul...	ORPHA:251076
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Syndact...	OMIM:249000
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coarctation of aorta, Tetr...	ORPHA:261243
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Suleiman-El-Hattab Syndrome	Polydactyly, Recurrent respiratory infections, Single transverse palmar crease, Patent foramen ov...	OMIM:618950
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Intestinal malrotation, Bifid uvula, Overlapping toe, Hip dislocatio...	OMIM:270400
Jacobsen Syndrome	Clinodactyly of the 5th finger, Hypospadias, Recurrent respiratory infections, Hydrocephalus, Mis...	OMIM:147791
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Clinodactyly of the 5th finger, Intestinal polyposis, Stomach cancer, Abn...	ORPHA:1052
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc...	OMIM:618300
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Prominent fingertip pads, High palate, Camptodactyly, Protruding ...	OMIM:300963
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hypotelorism, Renal hypoplasia, Micrognathia, Prominent superficial veins, Down-sloping shoulders	OMIM:616817
Non-Distal Duplication 13Q	Hypotelorism, High palate, Postaxial hand polydactyly, Arachnodactyly, Micrognathia	ORPHA:1702
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Retrognathia, Esophageal atresia, Hydrocephalus, T...	ORPHA:3412
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Developmental And Epileptic Encephalopathy 87	Single transverse palmar crease, High palate, Hypertelorism, Hypotelorism	OMIM:618916
Temple-Baraitser Syndrome	Pseudoepiphysis of the thumb, Proximal placement of thumb, Gastroesophageal reflux, Pulmonic sten...	OMIM:611816
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal hip bone morphology, Vesicoureteral reflux, Abnormal aortic morphology, Micrognathia, Cl...	ORPHA:1166
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Cyclopia, Hypoplasia of penis, Mandibular aplasia, Holoprosencephaly, Mic...	ORPHA:990
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Primum atrial septal defect, Recurrent pneumonia, Right ve...	ORPHA:1329
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Hypotelorism, Aplasia/Hypoplasia of t...	ORPHA:3186
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Syndactyly, Ventricular septal defect, Hypertelorism	OMIM:602501
Charge Syndrome	Tracheoesophageal fistula, Dysphagia, Bifid femur, Abnormal cardiac septum morphology, Polydactyl...	ORPHA:138
Prader-Willi Syndrome Due To Translocation	Retrognathia, Proptosis, Abnormal heart morphology, Bifid uvula, Overlapping toe, Clinodactyly, C...	ORPHA:177907
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Holoprosencephaly 11	Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly	OMIM:614226
Koolen-De Vries Syndrome	Narrow palate, Hypotelorism, Patent ductus arteriosus, Aortic root aneurysm, Prominent fingertip ...	OMIM:610443
Congenital Disorder Of Glycosylation, Type Iif	Hypotelorism, Clinodactyly, Proteinuria, Deeply set eye, Pulmonary hemorrhage, Aminoaciduria	OMIM:603585
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of ...	ORPHA:2549
Holoprosencephaly-Craniosynostosis Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Holoprosencephaly, Br...	ORPHA:2163
Richieri-Costa/Guion-Almeida Syndrome	Hypotelorism, Spina bifida occulta, Mandibular prognathia, Abnormal digit morphology, Cleft palat...	OMIM:268850
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypotelorism, Single transverse palmar crease, High palate, Hypertrophic cardiomyopathy, Renal hy...	OMIM:619053
Intellectual Developmental Disorder, Autosomal Recessive 13	Hypertelorism, Hypotelorism, Slender finger	OMIM:613192
Primary Pulmonary Hypoplasia	Pneumothorax, Patellar hypoplasia, Dextrocardia, Abnormal tracheal morphology, Ureteral stenosis,...	ORPHA:2257
16P13.11 Microdeletion Syndrome	Cyclopia, Gastroesophageal reflux, Camptodactyly of finger, Cleft palate, Holoprosencephaly, Meta...	ORPHA:261236
Penile Agenesis	Rectal fistula, Hydroureter, Bilateral lung agenesis, Anorectal anomaly, Tracheoesophageal fistul...	ORPHA:49
Holoprosencephaly	Hypoplasia of penis, Cyclopia, Encephalocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism...	ORPHA:2162
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Persistent...	ORPHA:3304
Galloway-Mowat Syndrome	Aqueductal stenosis, Hypotelorism, Nephrotic syndrome, Camptodactyly of finger, Micrognathia, Pro...	ORPHA:2065
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to...	OMIM:613759
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Hypotelorism, Incisor macrodontia, Congenital hip dislocation, Dental ma...	OMIM:619719
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges...	ORPHA:2256
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Deeply set eye, Micrognathia, Hypotelorism	OMIM:614104
Bardet-Biedl Syndrome 16	Polydactyly, Recurrent respiratory infections, Bronchiolitis, Renal cyst, Stage 5 chronic kidney ...	OMIM:615993
Ritscher-Schinzel Syndrome 4	Narrow palate, Hypotelorism, Proptosis, High palate, Narrow palm, Ulnar deviation of the hand, Dy...	OMIM:619435
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints, Patent foram...	OMIM:618821
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Syndactyly, Brachydac...	OMIM:602531
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Retrognathia, Hypotelorism, Gastroesophageal reflux, Tapered finger,...	OMIM:301044
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Abnormal tracheal morphology, Camptoda...	OMIM:616006
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Hypotelorism, Hydrocephalus, High palate, Micrognathia, Brachy...	OMIM:620156
3P25.3 Microdeletion Syndrome	High, narrow palate, Proximal placement of thumb, Acromesomelia, Coronary artery atherosclerosis,...	ORPHA:435638
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Chromosome 13Q14 Deletion Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ova...	OMIM:613884
Trisomy 18P	High, narrow palate, Hypotelorism, Abnormal finger morphology, Pyloric stenosis, Micrognathia	ORPHA:1715
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Monosomy 18P	Carious teeth, Micrognathia, Cleft palate, Holoprosencephaly, Brachydactyly	ORPHA:1598
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Tongue nodules, Clinodactyly, Hypoplasia o...	OMIM:311900
Microform Holoprosencephaly	Cyclopia, Hypotelorism, Hypoplasia of penis, Cleft palate, Tetralogy of Fallot, Holoprosencephaly...	ORPHA:280200
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Postaxial hand polydactyly, Cleft...	OMIM:615948
Chromosome 5P13 Duplication Syndrome	Hypotelorism, Single transverse palmar crease, Vesicoureteral reflux, Proptosis, High palate, Lon...	OMIM:613174
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Syndactyly, Brachydact...	OMIM:616589
Recombinant Chromosome 8 Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, Micrognathia, Hydronephrosis, T...	OMIM:179613
Pallister-Hall Syndrome	Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Polydactyly affect...	ORPHA:672
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndactyly, Short tibia, ...	OMIM:300484
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Hypotelorism, Slender finger, Hypoplasia of teeth, Micrognathia, Down-s...	ORPHA:391408
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Hypospadias, Horseshoe kidney, Patent ductus arteriosu...	ORPHA:1708
Vici Syndrome	Hypotelorism, Renal tubular acidosis, High palate, Cardiomyopathy, Ureteral atresia, Recurrent re...	ORPHA:1493
Lymphedema, Primary, With Myelodysplasia	Long fingers, Hypotelorism, Tapered finger	OMIM:614038
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Dysphagia, Tracheoesophageal fistula, Neoplasm of the lung	ORPHA:142
Intellectual Developmental Disorder, Autosomal Recessive 5	Hypertelorism, Hypotelorism, 4-5 toe syndactyly	OMIM:611091
Polysyndactyly With Cardiac Malformation	Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial septa...	OMIM:263630
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, High, narrow palate, Unilateral renal agenesis, Gastroesophageal reflux, Pat...	OMIM:618494
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ...	ORPHA:380
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Atrioventricular canal defect, Hypospadias, Hydrocephalus, Sin...	ORPHA:2409
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Atrioventricular canal defect, Gastroesophageal reflux, High palate, Anal atresia, ...	OMIM:613792
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Hypospadias, Hypoplasia of penis, Finger syndactyly, Hallux valgu...	ORPHA:2008
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Pulmonic...	OMIM:212780
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var...	OMIM:201000
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Autosomal Recessive Amelia	Hypoplasia of penis, Amelia involving the upper limbs, Amelia, Acromelia of the lower limbs, Micr...	ORPHA:1027
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Hypospadias, Abnormal tracheal morphology, Temporomandib...	ORPHA:2872
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Hypotelorism, Intestinal malrotation, Hydronephrosis, Gastrointestinal dysmotility, ...	OMIM:617798
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections	OMIM:253300
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte...	ORPHA:185
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Hypotelorism, Talipes equinovarus, Finger syndactyly, Proptosis, Hemi...	ORPHA:2215
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Prune Belly Syndrome	Hydroureter, Intestinal atresia, Recurrent respiratory infections, Renal insufficiency, Vesicoure...	ORPHA:2970
Congenital Disorder Of Glycosylation, Type Iu	Micrognathia, High palate, Hypotelorism	OMIM:615042
Premature Aging Syndrome, Penttinen Type	Retrognathia, Hypotelorism, Slender long bone, Delayed eruption of teeth, Tibial bowing, Proptosi...	OMIM:601812
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate, Short toe, Malar flattening, Brachydactyly, Radioulnar synostosis, Uln...	ORPHA:921
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Intestinal perforation, Dysuria, Tracheoesophageal fistula, Dysphagi...	ORPHA:537
Williams Syndrome	Abnormal carotid artery morphology, Hypoplasia of penis, Tracheoesophageal fistula, Pulmonic sten...	ORPHA:904
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Flared iliac wing, Hypoplastic frontal sinuses, Abnormal cardiac ...	ORPHA:90652
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:3268
Transketolase Deficiency	Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co...	ORPHA:488618
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Phaver Syndrome	Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Broad t...	ORPHA:2876
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl...	OMIM:607323
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th toe, Elbow flex...	ORPHA:1692
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot p...	OMIM:607361
Seckel Syndrome 7	Abnormal carpal morphology, Hypotelorism, Madelung deformity, Clinodactyly of the 5th finger, Sho...	OMIM:614851
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypotelorism, Clinodactyly of the 5th finger, Dilation of Virchow-Robin spac...	OMIM:619512
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Proptosis, Hypoplastic ilia, Micromelia, Postaxial polydact...	OMIM:617895
Harrod Syndrome	Abnormal shoulder morphology, Hypotelorism, Hypospadias, High palate, Abnormal pelvic girdle bone...	ORPHA:2115
Degcags Syndrome	Retrognathia, Proptosis, Pulmonic stenosis, Syndactyly, Polydactyly, Hypospadias, Oral-pharyngeal...	OMIM:619488
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypotelorism, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypospadias, Patent ductus...	OMIM:616975
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, 4-5 finger syndactyly, Pr...	OMIM:617201
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Broad thumb, ...	ORPHA:2001
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Abnormality...	ORPHA:40366
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Pulmonic stenosis, Pyloric stenosis, Overlapping toe, Atrial septal defect, Ventri...	OMIM:614262
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypotelorism, Unilateral renal agenesis, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Dextrocard...	OMIM:619657
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia,...	OMIM:274000
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Hypotelorism, Single transverse palmar crease, Mandibular prognathia, Bifid u...	OMIM:618622
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Trigonocephaly 1	Meckel diverticulum, High, narrow palate, Hypotelorism, Long penis	OMIM:190440
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Waardenburg Syndrome Type 3	Atelectasis, Tracheomalacia, Abnormality of the upper limb, Abnormal finger morphology, Synostosi...	ORPHA:896
Apert Syndrome	Limited elbow movement, Proptosis, Shallow orbits, Broad thumb, Bifid uvula, Syndactyly, Narrow p...	OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Incisor macrodontia, Coarctation of aorta, Cleft palate, Patent ...	OMIM:615502
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Giacheti Syndrome	Hypotelorism	OMIM:612917
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Intellectual Developmental Disorder, Autosomal Dominant 74	Deeply set eye, Hypertelorism, Hypotelorism	OMIM:620688
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Sirenomelia	Sirenomelia, Tracheoesophageal fistula, Anal atresia, Spina bifida, Aplasia/Hypoplasia of the rad...	ORPHA:3169
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal reflux, Mandibular prognathia, Prom...	OMIM:619721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ...	OMIM:253800
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Joint contracture of the 5th finger, Proptosis, Narrow palm, Decreased palmar creas...	ORPHA:352490
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Hypospadias, Abnormal finger morphology, Glossoptosis, Wrist flexion contrac...	ORPHA:436003
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Hypotelorism, Proximal placement of thumb, Gastroesop...	ORPHA:261211
Periventricular Nodular Heterotopia 1	Short finger, Stroke, Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Bicuspid aortic ...	OMIM:300049
Treacher-Collins Syndrome	Retrognathia, Encephalocele, Rectovaginal fistula, Hypoplasia of penis, Abnormal dental enamel mo...	ORPHA:861
Bardet-Biedl Syndrome 17	Polydactyly, Situs inversus totalis, Polyuria, Dextrocardia, Mesoaxial polydactyly, Postaxial han...	OMIM:615994
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Patent ductus arteriosus, Hydrocephalu...	ORPHA:2655
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Cyclopia, Gastroesophageal reflux, Alobar holoprosencephaly, Duodena...	OMIM:301043
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Atrial septal defect, Type E brachydactyly, Short metatarsal	OMIM:113301
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Megabladder, Congenital	Stage 5 chronic kidney disease, Left ventricular noncompaction cardiomyopathy, Patent ductus arte...	OMIM:618719
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Holoprosencephaly	ORPHA:2182
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Sh...	OMIM:618845
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Tongue nodules, Clinodactyly, Fibular aplasia, Postaxi...	OMIM:277170
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Micrognathia, Cl...	OMIM:231060
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Glutathionuria	Glutathionuria, Urinary incontinence, Hypotelorism	OMIM:231950
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Hypospadias, Tracheomalacia, Tracheal stenosis, Cardiomyopathy, Shor...	OMIM:217980
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia...	OMIM:613885
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, Hypospadias, Hig...	ORPHA:1913
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Gastroesophageal reflux, Dental malocclusion, Patent foramen oval...	OMIM:619149
Congenital Heart Defects And Ectodermal Dysplasia	Broad thumb, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect	OMIM:617364
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, High palate, Broad thumb, Clinodactyly, Secundum at...	OMIM:620194
Monosomy 5P	Finger syndactyly, High palate, Microretrognathia, Hypertelorism, Small hand	ORPHA:281
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F...	OMIM:101600
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Brachydactyly, Atrial septal de...	OMIM:614526
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Gastroesophageal reflux, Aortic aneurysm, Tapered finge...	OMIM:620070
Cat Eye Syndrome	Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Absent radius, Tricuspid atresia,...	OMIM:115470
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Tongue nodules, Taurodontia, Postaxial hand p...	ORPHA:2751
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Hydroureter, Urogenital sinus anomaly, Tracheoesophageal fistula, Anal atresia, Intestinal malrot...	ORPHA:2973
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,...	OMIM:235510
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot...	OMIM:614120
Mckusick-Kaufman Syndrome	Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morphology, Postaxial hand polydact...	ORPHA:2473
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Burn-Mckeown Syndrome	Unilateral renal agenesis, 2-3 toe syndactyly, Mandibular prognathia, Renal hypoplasia, Micrognat...	OMIM:608572
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Bicuspid a...	OMIM:218330
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Hypos...	ORPHA:363444
Oculofaciocardiodental Syndrome	Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, Patent ductus arteriosus,...	ORPHA:2712
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Hypospadias, Micromelia, Abnormality of the ureter, Aplasia/Hypop...	ORPHA:289
Distal Triplication 15Q	Retrognathia, Hypoplastic aortic arch, Hydrocephalus, Polycystic kidney dysplasia, High palate, C...	ORPHA:314588
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Sandal gap, Hypoplasia of penis, Finger syndactyly,...	ORPHA:3447
Bardet-Biedl Syndrome 2	Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ...	OMIM:615981
Renal Agenesis, Bilateral	Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Pulmonary hy...	ORPHA:1848
Non-Syndromic Metopic Craniosynostosis	Hypotelorism	ORPHA:3366
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Prominent fingertip pads, Broad thumb, Bifid uvula, Short distal phalanx of finger, Bicuspid aort...	OMIM:612474
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Hypert...	ORPHA:166024
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Micrognathia, Cleft palate, Malar flattening, Brachyda...	ORPHA:2145
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypotelorism, Ectopic kidney, Unilateral renal agenesis, Renal hypoplasia, Limb undergrowth, Dila...	OMIM:616541
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Tongue nodules, Hydrocephalus, Postaxial hand polydactyly, ...	OMIM:252100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Hypoplast...	ORPHA:2476
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Sandal gap, Hydr...	OMIM:619951
Filippi Syndrome	Single transverse palmar crease, Serrated incisors, Ventricular septal defect, Proptosis, Cutaneo...	OMIM:272440
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Clinodactyly, Sho...	ORPHA:2886
20P12.3 Microdeletion Syndrome	Broad thumb, Hypoplasia of the maxilla, Malar flattening, Broad hallux phalanx, Atrial septal def...	ORPHA:261295
Kabuki Syndrome 2	Atrioventricular canal defect, Dental malocclusion, Prominent fingertip pads, High palate, Pulmon...	OMIM:300867
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Right atr...	OMIM:270100
Dyskeratosis Congenita	Anorectal anomaly, Recurrent respiratory infections, Tracheoesophageal fistula, Hypoplasia of the...	ORPHA:1775
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Median cleft p...	OMIM:184705
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Aminopterin Syndrome Sine Aminopterin	High palate, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Cleft palate, Micrognath...	OMIM:600325
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Gastroesophageal reflux, P...	OMIM:618651
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypotelorism, Congenital hip dislocation, Adducted thumb, Hypertelorism, Talipes equinovarus, Hip...	OMIM:219150
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Unilateral renal agenesis, Patent ductus arteriosus, Hydrocephalus, Proximal tubulo...	OMIM:614576
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Kyphoscoliotic Ehlers-Danlos Syndrome	Abnormality of the hand, Hypotelorism, Dextrocardia, Aortic aneurysm, Shoulder dislocation, High ...	ORPHA:536545
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Hi...	OMIM:157900
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Abnormal metacarpal morphology, Encephal...	ORPHA:974
Keutel Syndrome	Pulmonary artery stenosis, Recurrent sinusitis, Tracheal atresia, Short distal phalanx of finger,...	ORPHA:85202
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Hypertelorism	OMIM:300887
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect	ORPHA:93946
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	High palate, Hypotelorism	OMIM:616281
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Patent foramen ovale, Dysphagia, Microretrognathia, Adducted thumb, Atrial se...	ORPHA:89844
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Prominent fingertip pads, Hig...	OMIM:613684
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Coffin-Siris Syndrome 1	Duodenal ulcer, Retrognathia, Ectopic kidney, Sandal gap, Dislocated radial head, Prominent finge...	OMIM:135900
Diabetic Embryopathy	Transposition of the great arteries, Ureteral duplication, Hydrocephalus, Abnormal aortic morphol...	ORPHA:1926
Microphthalmia/Coloboma 5	Holoprosencephaly	OMIM:611638
Ring Chromosome 7 Syndrome	Situs inversus totalis, Genu valgum, Hypotelorism, Clinodactyly of the 5th finger, Hypospadias, S...	ORPHA:1449
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,...	ORPHA:1406
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Pr...	OMIM:608739
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly	OMIM:617967
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Narrow palate, Hypotelorism, Clinodactyly of the 5th ...	ORPHA:794
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Craniofacial hyp...	ORPHA:2484
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip...	OMIM:619135
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, High palate, Micromelia, Abnormality of the ureter, Arachnodactyly, Atri...	ORPHA:1035
Orofaciodigital Syndrome V	Aganglionic megacolon, Hamartoma of tongue, Horseshoe kidney, Sandal gap, Postaxial hand polydact...	OMIM:174300
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Talipes equinovarus, Hypoplastic aortic arch, Abno...	ORPHA:261311
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Median cleft palate, Short 3rd metacar...	OMIM:169400
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Patent ductus arteriosus, Short greater sciatic notch, Hydrocepha...	ORPHA:1860
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Overlapping fingers, Retrognathia, Deep palmar crease, Hypospadias, Talipes e...	OMIM:301056
Holoprosencephaly 14	Aqueductal stenosis, Cyclopia, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Cle...	OMIM:619895
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch...	ORPHA:860
Feingold Syndrome Type 1	Abnormal heart morphology, Tricuspid atresia, 4-5 toe syndactyly, Multiple muscular ventricular s...	ORPHA:391641
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Dilation of Virchow-Robin s...	OMIM:619314
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Microgna...	OMIM:617516
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Genu valgum, Hypotelorism, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Hydrocep...	ORPHA:363700
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypotelorism, Hypospadias, Alobar holoprosencephaly, Hypoplasia of t...	OMIM:615465
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Hypotelorism, Cleft soft palate, Brachydactyly	OMIM:604757
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 5th finger, Proximal placement of ...	OMIM:620113
Lig4 Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Recurrent respiratory infections, Micropenis, Chron...	OMIM:606593
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Camptodactyly of finger, Cleft pa...	ORPHA:376
Congenital Heart Defects And Skeletal Malformations Syndrome	Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Repeated pneumothoraces, Aortic root ane...	OMIM:617602
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality...	ORPHA:521308
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu...	ORPHA:244
Robinow Syndrome, Autosomal Dominant 3	Proptosis, Broad thumb, Mesomelia, Syndactyly, Hypoplastic right heart, Clinodactyly, Patent fora...	OMIM:616894
Aorto-Ventricular Tunnel	Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m...	ORPHA:3400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Amelia, Intestinal malrotation, Pulmonary hypoplasia, Syndactyly,...	OMIM:601163
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transp...	OMIM:619148
Emanuel Syndrome	Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Recurrent sinusitis, Delayed er...	OMIM:609029
Chromosome 5Q12 Deletion Syndrome	Long toe, Patent foramen ovale, Long fingers, Micrognathia, Patent ductus arteriosus, Atrial sept...	OMIM:615668
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short uvula, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabu...	OMIM:614091
Joubert Syndrome 14	Encephalocele, Meningocele, Hydrocephalus, Renal cyst, Postaxial polydactyly, Cleft palate, Malar...	OMIM:614424
Poland Syndrome	Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Unilateral oligodactyly, Syndactyly, Unil...	OMIM:173800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Interphalangeal thumb joint contracture, Patent ductus arteriosus, Atrial ...	OMIM:613870
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Postaxia...	ORPHA:564
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect, ...	ORPHA:228399
Megalencephaly	Atrial septal defect, Genu valgum, Deeply set eye, Long penis	ORPHA:2477
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Atrial septal defect, Hy...	ORPHA:2475
Coffin-Siris Syndrome 12	Hip subluxation, Hypotelorism, Hypospadias, Gastroesophageal reflux, Patent foramen ovale, High p...	OMIM:619325
Indomethacin Embryofetopathy	Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal defect, Ventricular septal defect...	ORPHA:1909
Amyotrophy, Hereditary Neuralgic	Deeply set eye, Cleft palate, Hypotelorism	OMIM:162100
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Postaxial polydactyly, Ventricular septal defect, Renal insuf...	OMIM:219730
Contractural Arachnodactyly, Congenital	Limited elbow extension, Aortic root aneurysm, Elbow flexion contracture, High palate, Wrist flex...	OMIM:121050
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Short tibia, Tongue nodules, High palate, Foot polydactyly, Po...	OMIM:258860
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th...	OMIM:102510
Craniotelencephalic Dysplasia	Frontal encephalocele, Hypotelorism	OMIM:218670
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Hip dislocation, Abnormali...	ORPHA:508498
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Holoprosencephaly, Semilobar, With Craniosynostosis	Short distal phalanx of finger, Semilobar holoprosencephaly, Hypoplastic vertebral bodies, Coxa v...	OMIM:601370
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency...	ORPHA:90308
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Clinodactyly, Cleft palat...	OMIM:614261
Martinez-Frias Syndrome	Hypospadias, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal at...	OMIM:601346
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hypotelorism, Dental malocclusion, High palate, Micrognathia, Recurrent respiratory infections	ORPHA:329178
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Situs inversus totalis, Hypospadias	OMIM:615985
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg...	OMIM:618021
Trichothiodystrophy	Retrognathia, High, narrow palate, Hypotelorism, Clubbing, Cardiomyopathy, Recurrent bronchopulmo...	ORPHA:33364
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hypotelorism	OMIM:618718
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Vascular ring, Atrial septal defect, Ventricular septal defect	OMIM:603387
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Palmoplantar cutis laxa, Hy...	OMIM:618499
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Hypotelorism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, 4-5 finger syn...	ORPHA:468631
Marbach-Schaaf Neurodevelopmental Syndrome	Hypotelorism, Enuresis nocturna, Brachydactyly, Submucous cleft hard palate, Tapered finger	OMIM:619680
Proboscis Lateralis	Abnormal ethmoid bone morphology, Cyclopia, Abnormal facial skeleton morphology, Unilateral renal...	ORPHA:141099
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Atrial septal defect, Ventricular septal defect, M...	ORPHA:3375
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia, Hypotelorism	OMIM:619691
Holoprosencephaly 3	Cyclopia, Hypotelorism, Proptosis, Bifid uvula, Holoprosencephaly, Cleft palate, Hydronephrosis, ...	OMIM:142945
Septo-Optic Dysplasia Spectrum	Cleft palate, Esophageal atresia, Tracheoesophageal fistula, Hypoplasia of penis	ORPHA:3157
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Renal insufficiency, Short clavicles, Vesicoureteral reflux, Flat aceta...	OMIM:617159
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism	ORPHA:477673
Chromosome 9P Deletion Syndrome	Narrow palate, Clinodactyly of the 5th toe, Perimembranous ventricular septal defect, High, narro...	OMIM:158170
Wiedemann-Rautenstrauch Syndrome	Proptosis, Short humerus, Hypoplastic facial bones, Dysphagia, Long toe, Clinodactyly, Genu varum...	OMIM:264090
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Gastroesophageal reflux	OMIM:612913
Pentalogy Of Cantrell	Abnormal tibia morphology, Anencephaly, Encephalocele, Hypospadias, Hydrocephalus, Split hand, Ab...	ORPHA:1335
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Hypotelorism, High palate, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:556955
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, 2-3 toe syndactyly, Micrognathia, Abnormal heart morphology, Cleft palate, Short ...	OMIM:239800
16P12.1P12.3 Triplication Syndrome	Retrognathia, High, narrow palate, Abnormal tricuspid valve morphology, Hallux valgus, 2-3 toe sy...	ORPHA:485405
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi...	OMIM:620294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Patent foramen ovale, Mandibular prognathia, High palate, Camptodactyly,...	ORPHA:369891
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short p...	ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 to...	OMIM:617061
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Bilateral lung agenesis, Hypoplastic left atrium, ...	OMIM:601186
Lujan-Fryns Syndrome	High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Arachnodactyly, Micrognathia, Br...	ORPHA:776
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o...	ORPHA:2839
Vici Syndrome	Hypotelorism, Recurrent respiratory infections, Cardiomyopathy, High palate, Median cleft palate,...	OMIM:242840
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Arachnodactyly, Coxa valga, Hip dislocati...	ORPHA:3342
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Contracture of the proximal interphalangeal joint of the 3rd finger, Overlapping to...	ORPHA:464738
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short long bone, Short ribs, Acetabular spurs, Postaxial po...	OMIM:615503
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, ...	OMIM:618652
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the...	OMIM:611134
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Shortening of all dist...	OMIM:614749
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Atrial septal defect, Hypertelorism, Gastroesophageal reflux	ORPHA:466926
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Patent du...	OMIM:601005
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Sandal gap, Multiple bladder diverticula, Patent foramen ovale, Bronchomalacia, Rec...	OMIM:613177
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Trac...	ORPHA:93259
Jeune Syndrome	Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Abnormal pelvic gir...	ORPHA:474
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Clubbing, Split hand, Absent pulmonary artery, Coarctation of aorta, Cleft palate, T...	OMIM:600460
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ve...	ORPHA:75389
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Abnormal cardiac septum morphology, 4-5 t...	OMIM:308050
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Aortic tortuosity, Arachnodactyly, Bifid uvula, Mitral valve p...	OMIM:614816
Chronic Granulomatous Disease	Pyloric stenosis, Sinusitis, Recurrent respiratory infections, Tracheoesophageal fistula	ORPHA:379
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact...	OMIM:236500
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Ectopic anus, Arachnodactyly, Camptodactyly of finger, Cl...	ORPHA:2994
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Coffin-Siris Syndrome 6	Retrognathia, High, narrow palate, Gastroesophageal reflux, Micrognathia, Cleft palate, Brachydac...	OMIM:617808
Fg Syndrome Type 1	Abnormal thumb morphology, Hypospadias, Clinodactyly of the 2nd finger, Gastroesophageal reflux, ...	ORPHA:93932
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Bilateral triphalangeal thumbs, Micrognathia, Short distal phalanx o...	OMIM:619356
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Syndactyly, Tongue nodul...	OMIM:311200
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epiphyseal stippling, Abno...	ORPHA:79345
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Hydrocephalus, Camptodactyly, Enuresis, Aortic valve ...	ORPHA:459061
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Proptosis, Mitral valve prolapse, Left v...	OMIM:245600
Al-Raqad Syndrome	Brachydactyly, Atrial septal defect, Deeply set eye, Sandal gap	OMIM:616459
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, High palate, Hydronephrosis, ...	OMIM:619762
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Abnormal gastrointestinal tract morphology, 2-3 toe syndactyly, P...	ORPHA:404440
Kleefstra Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Advanced eruption of teeth, Hypospadias, Pulmonary ar...	ORPHA:261494
Cerebrofacioarticular Syndrome	Caudal appendage, Anal stenosis, Hypospadias, Tracheomalacia, Abnormal tracheal morphology, Campt...	ORPHA:314679
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Bilateral cleft palate, Proptosis, Intestinal malrotation, ...	OMIM:605039
Scalp-Ear-Nipple Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Unilateral renal agenesis, Finger syndactyly, 2-3 t...	OMIM:181270
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Micrognathia, Natal tooth, Pulmonary hypoplasia, Broad palm, Atrial septal ...	OMIM:145420
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, High palate, Cleft palate, Increased urine a...	OMIM:220500
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, Patent foramen ovale, 2-3 toe synd...	OMIM:618914
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Proptosis, Aortic valve stenosis, Abnormal cerebral vascular morphol...	ORPHA:363705
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	High palate, Hypotelorism	OMIM:615760
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ...	ORPHA:1587
Iniencephaly	Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Mandibular aplasia, My...	ORPHA:63259
Neuralgic Amyotrophy	Scapular winging, Bifid uvula, Cleft palate, Upper limb amyotrophy, Syndactyly	ORPHA:2901
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Retrognathia, Clinodactyly of the 5th finger, Patent ductus arter...	ORPHA:2637
Codas Syndrome	Atrioventricular canal defect, Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Ga...	OMIM:600373
Spondyloepimetaphyseal Dysplasia, Krakow Type	Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clinodactyly of the 5th finger,...	OMIM:618162
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clinodactyly of the 5th finger, Hydroureter, Spina bifida occulta, Valvular pulmonary stenosis, R...	OMIM:300707
Even-Plus Syndrome	Patent foramen ovale, Vesicoureteral reflux, High palate, Anal atresia, Epiphyseal dysplasia, Ren...	OMIM:616854
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Hypospadias, Gastroes...	OMIM:300998
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Hypospadias,...	ORPHA:500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, High palate, Coarctation of aorta, Deeply set eye, H...	OMIM:618929
Nephrotic Syndrome, Type 11	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, High palate, Focal segmental g...	OMIM:616730
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,...	ORPHA:3210
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Proptosis,...	ORPHA:93258
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro...	OMIM:180849
Nephronophthisis 15	Polydactyly	OMIM:614845
Trichothiodystrophy 3, Photosensitive	Hypotelorism, Meckel diverticulum, Pyloric stenosis, Carious teeth, Natal tooth	OMIM:616395
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Hydrocephalus, Meckel diverticulum,...	ORPHA:1666
Chromosome 10Q26 Deletion Syndrome	Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Clinodactyly o...	OMIM:609625
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Hydrocephalus, Broa...	OMIM:612582
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Bifid uvula, Nephrocal...	ORPHA:264450
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Horseshoe kidney, Short hallux, Finger syndactyly, Tracheomalacia, Vesicoure...	ORPHA:93260
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypotelorism, Single transverse palmar crease, Proximal tubulopat...	OMIM:619743
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv...	OMIM:616300
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Malar flattening, Flattened epiphys...	OMIM:607131
17Q23.1Q23.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Patellar hypoplasia, ...	ORPHA:261279
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Aortic aneurysm, Patent foramen ovale, 2-3 toe syndactyly, Persistent left superior v...	ORPHA:477817
Galloway-Mowat Syndrome 9	Hypotelorism, Gastroesophageal reflux, Focal segmental glomerulosclerosis, Diffuse mesangial scle...	OMIM:619603
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormality of the ...	ORPHA:52
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Proptosis, High palate, C...	OMIM:619736
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Gastroesophageal reflux, Dental malocclusion, Patent foramen ovale, Ma...	OMIM:610883
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Cervical myelopathy, Genu valgum, Keratan sulfate excretion in urine, Mandibular ...	OMIM:253010
Williams-Beuren Syndrome	Pulmonic stenosis, Nephrocalcinosis, Mitral valve prolapse, Urethral stenosis, Bicuspid aortic va...	OMIM:194050
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Pulmonary sequestration, Intesti...	ORPHA:2847
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te...	OMIM:617478
9Q21.13 Microdeletion Syndrome	Polydactyly, Abnormal tongue morphology, Abnormal heart morphology, Hydronephrosis, Gastrointesti...	ORPHA:531151
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Gastroesophageal reflux, Pulmonary...	OMIM:620568
Sclerosteosis	Diaphyseal undertubulation, Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, ...	ORPHA:3152
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Cubitus valgus, Palmoplantar cuti...	OMIM:605275
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Insulin-Like Growth Factor I, Resistance To	Short finger, Retrognathia, Radial deviation of finger, Sandal gap, Patent foramen ovale, High pa...	OMIM:270450
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Patent ductus arterio...	ORPHA:96167
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Hypospadias, Long toe, Hydrocephalus, Hyperextensibility of the finger joints...	ORPHA:163979
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Gastroesophageal reflux, Single transverse palmar crease, Patent ...	ORPHA:329224
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Recurrent respiratory in...	OMIM:615633
Zechi-Ceide Syndrome	Short metatarsal, Sandal gap, Mandibular prognathia, Abnormal heart morphology, Cleft palate, Sho...	ORPHA:217017
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Craniofrontonasal Dysplasia	Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger syndactyly, High palate, Camptoda...	ORPHA:1520
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv...	ORPHA:75508
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Hand p...	ORPHA:261197
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty...	ORPHA:1825
Genitopalatocardiac Syndrome	Hypospadias, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Brachydactyly...	ORPHA:2075
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Gastroesophageal reflux, Finger syndactyly, Single transverse palmar crease, Mandibu...	ORPHA:435938
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Short ribs, Microm...	OMIM:616546
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypertelorism, Hypospadias, Hypoplastic ischia	OMIM:616910
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Short long bone, Propt...	ORPHA:1865
Isolated Sedoheptulokinase Deficiency	Abnormality of globe location, Steatorrhea, Hypotelorism, Shallow orbits, Hip dysplasia, Renal in...	ORPHA:440713
Emanuel Syndrome	Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia, Broad jaw, Hydrocephalus, Trunc...	ORPHA:96170
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Syndactyly, Hypertelorism, Clinodactyly	OMIM:300337
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Short ribs, Hypoplastic pelvis, Split foot, Upper limb ...	ORPHA:2092
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Ureteral triplication, High palate, Congenital hip dislocation, Hy...	OMIM:104350
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Homocystinuria, Coarctation of aorta, Micrognathia, Patent ductus arteri...	OMIM:614857
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Dysphagia, Transposition of the great arteries, Muscular ventricula...	OMIM:619503
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Gastroesophageal reflux, Single transverse palmar crease, Mandi...	OMIM:619720
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Tracheal stenosis, Interrupted aortic arch, Narrow i...	OMIM:300712
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Hypotelorism, Clinodactyly of the 5th finger, Madelung deformity, Sho...	ORPHA:319675
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Patent ductus arteriosus, Abnormality of the pulmonary artery, At...	ORPHA:290
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Shallow orbits, Dislocated wrist, Accesso...	OMIM:150250
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Arachnodactyly, Descending aortic dissection, P...	ORPHA:91387
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus	OMIM:619967
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate, Hypotelorism, Micropenis	OMIM:615849
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Talon cusp, Cleft palate...	OMIM:605282
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Unilateral renal agenesis, Patent ductus arteriosus, Tracheomalacia, Aortic root an...	OMIM:620654
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Split foot, Ureterocele, Carious teeth, Cleft palate, Malar flattening, Toe syndactyly, Hypertelo...	OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hypotelorism, Mandibular prognathia, Microphallus, Deeply set eye, Micropenis	OMIM:300486
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Posta...	OMIM:611561
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu...	OMIM:618280
Kagami-Ogata Syndrome	Retrognathia, Pulmonic stenosis, Hypoplasia of the maxilla, Long fingers, Micrognathia, Limb unde...	OMIM:608149
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, Tongue nodules, High palate, Ce...	ORPHA:2754
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Micrognathia, Recurrent respiratory infections...	OMIM:616777
Ogden Syndrome	High, narrow palate, Proptosis, Pulmonary artery stenosis, Broad hallux, Microretrognathia, Ventr...	ORPHA:276432
Solitary Median Maxillary Central Incisor	Cyclopia, Hypotelorism, Holoprosencephaly	OMIM:147250
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Single transverse palmar...	OMIM:244300
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Dextrocardia, Macrodontia of permanent maxillary central incisor,...	OMIM:618067
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotation, Coarctat...	ORPHA:3426
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Schizophrenia 1	Short proximal phalanx of the 4th toe, Ectopic kidney, Hypertelorism, Syndactyly	OMIM:181510
Acro-Renal-Ocular Syndrome	Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Crossed fused renal ect...	ORPHA:959
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Overlapping ...	OMIM:601808
2Q31.1 Microdeletion Syndrome	Sandal gap, Proptosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal...	ORPHA:251014
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Arachnodactyly, Atrial septal defect, Sandal gap	OMIM:616938
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Absence of renal corticomedullary differentiation, Clinodactyly of the 5th finger, ...	OMIM:619758
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Absent thumb, Absent...	OMIM:154400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Proptosis, Short metacarpal, P...	ORPHA:457395
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Intestinal malrotation, Arachnodactyly, Paranasal sinus hypoplasia, B...	OMIM:300373
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Holoprosencephaly 7	Semilobar holoprosencephaly, Hypotelorism, Alobar holoprosencephaly, Hydrocephalus, Bilateral cle...	OMIM:610828
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Toe cl...	OMIM:619910
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Hyperextensibility of the finger joints, High palate, Broad thumb, Arachnodactyly, ...	ORPHA:505237
Noonan Syndrome 8	Patent ductus arteriosus, Palmoplantar cutis laxa, Pleural effusion, Hypertrophic cardiomyopathy,...	OMIM:615355
Congenital Myopathy 12	High, narrow palate, High palate, Camptodactyly, Jaw contracture, Pulmonary artery stenosis, Arac...	OMIM:612540
Robinow Syndrome	Mesomelic arm shortening, Proptosis, Pulmonic stenosis, Abnormal heart morphology, Mesomelia, Syn...	ORPHA:97360
Stormorken Syndrome	Hematuria, Hypotelorism, Stroke-like episode, Subarachnoid hemorrhage, Deeply set eye	OMIM:185070
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Aspiration pneumonia, Micrognathia, Recurrent pneumonia, Abnormal heart...	ORPHA:314655
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho...	ORPHA:3258
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Cardiomy...	ORPHA:3472
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Deep palmar crease, Clinodactyly of the 5th finger, Duodenal atresia, Delayed erupti...	OMIM:247200
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ...	OMIM:610205
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Hypospadias, Urogenital sinus anomaly, Chordee, Micrognathia, Holoprosencephaly, S...	OMIM:618820
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Intestinal malrotation, Cleft palate, Hydronephrosis, Brachydactyly, Pat...	ORPHA:457193
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate, Recurrent viral upper respiratory ...	OMIM:616898
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Holoprosencephaly 2	Semilobar holoprosencephaly, Cyclopia, Hypotelorism, Alobar holoprosencephaly, Bilateral cleft pa...	OMIM:157170
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly, Micrognathia	OMIM:615761
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Arachnodactyly, Syndactyly, Hypertelorism, Clinodactyly	OMIM:619092
Opitz-Kaveggia Syndrome	Radial deviation of finger, Prominent fingertip pads, Broad thumb, Intestinal malrotation, Abnorm...	OMIM:305450
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Hyperlysinemia	Argininuria, Hypotelorism, Gastroesophageal reflux, Decreased urine alpha-ketoglutarate concentra...	ORPHA:2203
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Arachnodactyly, Short distal phalanx of finger, Coxa valga, Truncus arteriosus, Short...	ORPHA:261330
Fryns Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Short distal phalanx of finger, Abnormal...	ORPHA:2059
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Proptosis, Congenital finger flexion contractures, Arac...	OMIM:615582
Shashi-Pena Syndrome	Retrognathia, Deep palmar crease, Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Pr...	OMIM:617190
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb...	ORPHA:221120
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tracheomalacia, Finge...	ORPHA:1001
7Q31 Microdeletion Syndrome	Clinodactyly of the 2nd finger, Gastroesophageal reflux, Galactosuria, Recurrent respiratory infe...	ORPHA:251061
Holoprosencephaly 9	Agenesis of incisor, Hypotelorism, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palat...	OMIM:610829
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Horseshoe kidney, ...	OMIM:617088
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root aneurysm, 2-3 to...	OMIM:620025
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Clinodactyly of the 5th finger, Proptosis, High palate, Syndactyly, Brachydac...	OMIM:619451
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic root aneurysm, Ventricular hypertrophy, High palate, Aortic tortuosity, A...	OMIM:208050
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Brachydactyly, Deeply set eye, Hypertelorism, Clinodactyly	ORPHA:313781
Congenital Sialidosis Type 2	Polydactyly, Hydrocephalus, Protruding tongue, Abnormal heart morphology, Respiratory tract infec...	ORPHA:93400
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductus arteriosus, Aglossia, At...	OMIM:241310
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Hypospadias, Gastroesophageal reflux, Single transverse palmar crease, 2-3 toe synd...	OMIM:616449
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Abnormality of the gastrointestinal tract, Gastroesophageal reflux...	ORPHA:453499
Wiedemann-Steiner Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, 2-3 toe syndactyly, High palate, Short ...	OMIM:605130
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Hydrocephalus, Postaxial polydactyly, Broad hallux, Deviation of the 5...	OMIM:616362
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotatio...	OMIM:613091
Hermansky-Pudlak Syndrome 10	Retrognathia, Abnormal pulmonary interstitial morphology, Hypotelorism, Recurrent respiratory inf...	OMIM:617050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Camptodactyly, Arachnodactyly, Atrial septal defect, Ventricular septal def...	OMIM:301039
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Atelis Syndrome 1	High palate, Carious teeth, Bronchiectasis, Atrial septal defect, Ventricular septal defect	OMIM:620184
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
19P13.12 Microdeletion Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Hypospadias, Finger syndactyly, P...	ORPHA:254346
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, Aortic root aneurysm, 2-3 toe syndactyly,...	ORPHA:96201
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Hypospadias, Hepatocellular carcinoma, Short middle phalanx of th...	OMIM:180860
Senior-Loken Syndrome 9	Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu...	OMIM:616629
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Gastroesophageal reflux, Stroke, Cardiomyopathy, Atrial septal defect, Ve...	OMIM:249270
19Q13.11 Microdeletion Syndrome	Retrognathia, Clinodactyly of the 5th finger, Hypospadias, Finger syndactyly, Congenital hip disl...	ORPHA:217346
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Patent ductus arteriosus, Sandal gap, Dysplastic pulmonary valve, Hydrocepha...	OMIM:612863
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Slender finger, Micrognathia, Cleft palate, Mala...	OMIM:610536
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
Tatton-Brown-Rahman Syndrome	Widely spaced toes, Aortic root aneurysm, Mandibular prognathia, Short toe, Patent ductus arterio...	ORPHA:404443
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Ectrodactyly, Microphallus, Micrognathi...	ORPHA:397590
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Syndactyly, ...	OMIM:616028
Sweeney-Cox Syndrome	Gastroesophageal reflux, Short clavicles, Patent foramen ovale, 2-5 toe syndactyly, High palate, ...	OMIM:617746
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, High palate, Clinodactyly of the 5th finger	ORPHA:231140
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Submucous cleft hard palate, Bifid uvula, Absent thumb, Atrial septal defect	OMIM:619239
Cranioectodermal Dysplasia 3	Nephronophthisis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Hypoplasia o...	OMIM:614099
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Arteriovenous malformation, Hydrocephalus, Finger syndactyly, Foot polydactyly, Hand polydactyly,...	ORPHA:60040
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Double inlet left ventricle, Vesicoureteral reflux, High palate, Tetra...	OMIM:619869
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, Congenital malformati...	ORPHA:2332
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E...	ORPHA:2211
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Diamond-Blackfan Anemia 7	Triphalangeal thumb, Vesicoureteral reflux, Esophagitis, Secundum atrial septal defect, Tetralogy...	OMIM:612562
Distal Deletion 15Q	Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ...	ORPHA:1596
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, High palate, Broad thumb, Down-sloping shoulders, Overlapping toe, Atrial septal de...	OMIM:617452
Noonan Syndrome 13	Limited elbow extension, Cubitus valgus, Gastroesophageal reflux, Tapered finger, High palate, Bi...	OMIM:619087
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Gastroesophageal reflux, Camptodactyly, Hip d...	OMIM:611961
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hypotelorism, Hypospadias, Tapered finger, Short foot, Camptodactyly, High palate, Micrognathia, ...	OMIM:309590
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Dysphagia, ...	OMIM:601559
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia, A...	OMIM:603467
Alobar Holoprosencephaly	Cyclopia, Neural tube defect, Hypotelorism, Gastroesophageal reflux, Hydrocephalus, Abnormal gast...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cyclopia, Neural tube defect, Hypotelorism, Gastroesophageal reflux, Hydrocephalus, Abnormal gast...	ORPHA:93926
Lobar Holoprosencephaly	Cyclopia, Neural tube defect, Hypotelorism, Gastroesophageal reflux, Hydrocephalus, Abnormal gast...	ORPHA:93924
Semilobar Holoprosencephaly	Cyclopia, Neural tube defect, Hypotelorism, Gastroesophageal reflux, Hydrocephalus, Abnormal gast...	ORPHA:220386
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Deeply set eye, High palate, Hypospadias	ORPHA:544254
Hypomandibular Faciocranial Dysostosis	Abnormal tracheobronchial morphology, Recurrent respiratory infections, Maxillozygomatic hypoplas...	ORPHA:1790
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis	OMIM:185500
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Preaxial hand polydactyl...	ORPHA:79113
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Hypospadias, Gastroesophageal reflux, High palate, Medullary nephrocalcinosis...	ORPHA:363528
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, High, narrow palate, Horseshoe kidney, Single transverse pa...	OMIM:272950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morpholog...	ORPHA:397715
Distal Deletion 3P	Atrioventricular canal defect, Clinodactyly of the 5th finger, Postaxial hand polydactyly, High p...	ORPHA:1620
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery atherosclerosis, Renal artery atherosclerosis, Cardiomyopathy, Abnormality of the...	ORPHA:565612
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, High palate, Synostosis...	ORPHA:710
Joubert Syndrome 39	Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly, Hypoplastic ...	OMIM:619562
Holoprosencephaly 1	Cyclopia, Hypotelorism, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Micropenis, ...	OMIM:236100
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Persistence of primary teeth, Recurrent pneumonia, Patent ductus arterio...	OMIM:619769
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect, Recurrent lower respiratory tract infections	OMIM:617744
Absence Of The Pulmonary Artery	Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno...	ORPHA:980
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Gastroesopha...	OMIM:610759
Lethal Congenital Contracture Syndrome 10	Narrow palate, Adducted thumb, Short long bone, Femoral bowing, High palate, Micrognathia, Pulmon...	OMIM:617022
Joubert Syndrome 23	Polydactyly	OMIM:616490
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Ulnar bowing, Hydrocephalus, Femoral bowing, Proptosis, Camptodactyly, Humero...	OMIM:207410
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, High palate, Pulmonic stenosis, Micrognathia, Recurrent sinusit...	OMIM:618282
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact...	ORPHA:2377
Velocardiofacial Syndrome	Abnormality of the hand, Right aortic arch with mirror image branching, Retrognathia, Interrupted...	OMIM:192430
Chops Syndrome	High, narrow palate, Horseshoe kidney, Gastroesophageal reflux, Tracheomalacia, Patent foramen ov...	OMIM:616368
Acrofrontofacionasal Dysostosis 2	Hypospadias, Proptosis, High palate, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly, Hyp...	OMIM:239710
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Proptosis, Bifid first metacarpal, Short metacarpal, Short h...	OMIM:210710
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes...	OMIM:619608
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys...	OMIM:263520
Scleromyxedema	Abnormality of the hand, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Stro...	ORPHA:167635
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Patent ductus arteriosus, Sandal gap, Pulmonary artery atresia, Supra...	OMIM:618164
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Palmar pits, Hydrocephalus, Hamartomatous...	OMIM:109400
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Cardiomyopathy, High palate, Secundum atrial septal defect, Pulmonary hypop...	OMIM:616866
Arachnoid Cyst	Urinary incontinence, Encephalocele, Hydrocephalus, Urinary bladder sphincter dysfunction, Holopr...	ORPHA:2356
Frank-Ter Haar Syndrome	Short long bone, Proptosis, Mitral valve prolapse, Patent foramen ovale, Camptodactyly, Short pal...	OMIM:249420
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Vascular dilatation, Varicose veins, Camptodactyly, Bilateral talipes equinovarus, ...	OMIM:618343
Sotos Syndrome	Narrow palate, High, narrow palate, Muscular ventricular septal defect, Genu valgum, Advanced eru...	OMIM:117550
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Ectopic kidney, Vesicoureteral reflux, ...	ORPHA:140952
Acrocallosal Syndrome	Pulmonary valve defects, Bifid distal phalanx of the thumb, Bifid uvula, Abnormal cardiac septum ...	OMIM:200990
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Micrognathia, Secundum atrial...	OMIM:620072
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropath...	ORPHA:79076
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Oral-pharyngeal dysphagia, 11 pairs of ribs, Tracheobronchomalacia, Patent foramen o...	OMIM:619184
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren...	OMIM:245150
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Hypotelorism, Hitchhiker thumb, High palate, Lobar holoprosencephaly...	OMIM:618500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Ureteral duplication, Abnormal ilium morphology, Gastroesophageal reflux, Vesicour...	OMIM:614080
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Acromesomelia, Gastroesophageal reflux,...	ORPHA:464306
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Hypotelorism, Cleft soft palate, Aortic rupture, Bladder diverticulum, Patent ductus arteriosus, ...	OMIM:614557
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Ascending tubular aorta aneurysm, High palate, Broad thu...	OMIM:309520
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Silver-Russell Syndrome 3	Retrognathia, Penoscrotal hypospadias, Clinodactyly of the 5th finger, Syndactyly, Patent ductus ...	OMIM:616489
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Aarskog-Scott Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Single transverse p...	ORPHA:915
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Proptosis, Arachnodactyly, Intussus...	OMIM:614437
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Cranioectodermal Dysplasia 2	Polydactyly, Retrognathia, Rhizomelia, Patent ductus arteriosus, Patent foramen ovale, Short ribs...	OMIM:613610
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t...	ORPHA:371428
Hydranencephaly	Hypotelorism, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, ...	ORPHA:2177
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Gastroesophageal reflux, Abnormal cardiac ventricle morphology, ...	ORPHA:2306
Developmental And Epileptic Encephalopathy 111	Single transverse palmar crease, Nephrolithiasis, Pulmonary artery stenosis, Recurrent respirator...	OMIM:620504
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Cle...	ORPHA:60015
Cerebrocostomandibular Syndrome	Ectopic kidney, Glossoptosis, Short humerus, 10 pairs of ribs, Calcaneal epiphyseal stippling, El...	OMIM:117650
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth, Hypertelorism	ORPHA:1997
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Short long bone, Proptosis, Shallow orbits, Abnorm...	ORPHA:79328
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Hyp...	OMIM:304120
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Recurrent lower respiratory tract infections, High palate, Nephrocalcinosis, Limb u...	OMIM:618005
Retinal Dystrophy With Leukodystrophy	Cleft palate, Hypotelorism	OMIM:618863
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Mend Syndrome	Polydactyly, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Long fingers,...	OMIM:300960
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Proptosis, Short ribs, Dumbbell-shaped long bone, ...	OMIM:228520
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Short ribs,...	ORPHA:2347
Dyskeratosis Congenita, Autosomal Recessive 8	Hypotelorism, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Esophageal stric...	OMIM:620133
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Proptosis, Large iliac w...	OMIM:271640
Curry-Jones Syndrome	Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal malrotation, Abnormality of thumb ph...	ORPHA:1553
Jacobsen Syndrome	Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Hip dislocation, Toe synd...	ORPHA:2308
Holoprosencephaly 4	Semilobar holoprosencephaly, Hypotelorism, Median cleft palate	OMIM:142946
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Atrioventricular canal defect, Clinodac...	ORPHA:3047
White-Kernohan Syndrome	Retrognathia, Hypotelorism, Hydroureter, Gastroesophageal reflux, Rectovaginal fistula, Hydroneph...	OMIM:619426
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplastic sacral vertebrae, Hypopl...	OMIM:105650
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Ectopic kidney, Unilateral renal agenesis, Horseshoe kidney, Pelvic kid...	OMIM:610832
Noonan Syndrome 7	Deep palmar crease, Cubitus valgus, Abnormal esophagus morphology, Hypertrophic cardiomyopathy, P...	OMIM:613706
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava w...	OMIM:618460
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Carpenter Syndrome 2	Retrognathia, Broad thumb, Narrow palate, Transposition of the great arteries, Camptodactyly, Car...	OMIM:614976
Al Kaissi Syndrome	High, narrow palate, Deep palmar crease, Atrial septal defect, Hypertelorism, Clinodactyly, Small...	OMIM:617694
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Micrognathia, High palate, Hypotelorism	ORPHA:502423
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Aortic valve stenosis, Overl...	OMIM:139210
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Short ribs, Postaxial hand polydactyly, Patent ductus arteriosus, Atrial septal defect, Ventricul...	ORPHA:2519
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena cava morphology, Short fo...	ORPHA:163956
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, High palate, Pleural effusion,...	OMIM:616564
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal aortic valve morphology, Spina bifida occulta, Hypoplasia of penis, Finger syndactyly, A...	ORPHA:2990
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Stroke	ORPHA:49827
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Cutis Laxa, Autosomal Recessive, Type Iic	Pneumothorax, Patent foramen ovale, Mandibular prognathia, High palate, Camptodactyly, Median cle...	OMIM:617402
Down Syndrome	Bilateral single transverse palmar creases, Narrow palate, Atrioventricular canal defect, Clinoda...	ORPHA:870
Constricting Bands, Congenital	Abnormal lung lobation, Ectopia cordis, Encephalocele, Hand polydactyly, Cleft palate, Syndactyly...	OMIM:217100
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu valgum, Sandal gap, Aortic root aneurysm, Abnormal heart valve morphology, Hallux valgus, Re...	ORPHA:230851
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, High palate, Hypertrophic cardiomyopathy, Overlapping toe, Atri...	OMIM:619383
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Single transverse palmar crease, Proptosis, High palate, Atri...	OMIM:618354
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia, Absent t...	OMIM:609053
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis, Patent ductus arteriosus	ORPHA:1338
Noonan Syndrome 5	Cubitus valgus, Mandibular prognathia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial sep...	OMIM:611553
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Spina bifida occulta, Meningocele, Finger syndactyly, Abnormality of the ureter, Cam...	ORPHA:2311
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, High palate, Pulmonic stenosis, Enamel hypoplasia, Atri...	OMIM:618205
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:1788
Poland Syndrome	Aplasia of the pectoralis major muscle, Short ribs, Ureterocele, Aplasia/Hypoplasia of the sternu...	ORPHA:2911
Joubert Syndrome 37	High palate, Postaxial polydactyly, Hydronephrosis, Deeply set eye, Hypertelorism, Micropenis	OMIM:619185
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Proptosis, Ureteral stenosis, ...	OMIM:309350
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Cri-Du-Chat Syndrome	Short metatarsal, Gastroesophageal reflux, Hypospadias, Anterior open-bite malocclusion, Single t...	OMIM:123450
Loeys-Dietz Syndrome 6	Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity, Arachnodactyly, Bifid uvula, Bic...	OMIM:619656
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Dilatation of the cerebral artery, Aor...	OMIM:300989
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent respiratory infections, Clubbing, Hypertrophic cardiomyopathy, Flared ...	OMIM:617303
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Enlarged kidney, Abnormal right ventricle morphology, Spina bifida occ...	ORPHA:500095
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre...	OMIM:305400
Cohen Syndrome	High, narrow palate, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Slend...	ORPHA:193
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Hypertelorism, Nephrocalcinosis	OMIM:611087
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Patent foramen ovale, Micrognathia, Nephrocalcinosis, Right ventricular h...	OMIM:208085
Blepharocheilodontic Syndrome 1	Neural tube defect, Anal atresia, Cutaneous syndactyly, Hypertelorism, Clinodactyly	OMIM:119580
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, 3-Methylglutaconic aciduria, Hypospadias, Gastroesophageal reflux, Recurrent respira...	ORPHA:17
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Deeply set eye, Hypertelorism, Clinodactyly	OMIM:618087
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Recurrent aspiration pneumonia, Dysphagia, Rectovestibular fistula, P...	ORPHA:280633
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ...	OMIM:620570
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona...	OMIM:615067
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of the ...	ORPHA:1439
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Pericardial effusion, Atrial septal defect, Hypertelorism, Hip dislo...	OMIM:608776
Frontometaphyseal Dysplasia 2	Dislocated radial head, Short metacarpal, Pulmonic stenosis, Broad thumb, Bifid uvula, Bicuspid a...	OMIM:617137
Catel-Manzke Syndrome	Proptosis, Short metacarpal, Glossoptosis, Ulnar deviation of the 2nd finger, Short humerus, Bifi...	OMIM:616145
Proteus Syndrome	Facial hyperostosis, Venous malformation, Mandibular hyperostosis	OMIM:176920
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thu...	OMIM:136140
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, High palate, Congenital hip disl...	OMIM:244450
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Oligosacchariduria, High palate, Camptodactyly, Brachydactyly, Patent ductus arteriosus, Atrial s...	ORPHA:397709
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ovale, Atrial sep...	OMIM:620075
Noonan Syndrome 4	Ureteral duplication, Cubitus valgus, Dental malocclusion, Hypertrophic cardiomyopathy, Pulmonic ...	OMIM:610733
Crane-Heise Syndrome	Hypoplasia of penis, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Cleft palate, Short d...	ORPHA:1512
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Proptosis, Submucous cleft of soft and hard palate, ...	OMIM:301022
Stromme Syndrome	Preaxial polydactyly, Hydrocephalus, Intestinal malrotation, Micrognathia, Cleft palate, Hydronep...	OMIM:243605
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Proptosis, Tortuous cerebral arteries...	OMIM:613795
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac...	OMIM:616462
8P11.2 Deletion Syndrome	Hypoplasia of penis, High palate, Micrognathia, Mitral valve prolapse, Patent ductus arteriosus, ...	ORPHA:251066
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Hypospadias, Spina bifida occulta, Flared metaphysis, Hyperextensibil...	OMIM:151050
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Classical-Like Ehlers-Danlos Syndrome Type 2	Sandal gap, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology, Mitral valve prolapse, Di...	ORPHA:536532
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Aortic valve stenosis, Submucous cleft hard palate, Renal hypoplasia, Mitr...	OMIM:617660
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Pe...	OMIM:613001
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Proptosis, Glossoptosis, Shallow o...	OMIM:602535
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a...	OMIM:615436
Alazami Syndrome	Malar flattening, Atrial septal defect, Deeply set eye, Slender long bone	ORPHA:319671
Rajab Interstitial Lung Disease With Brain Calcifications 1	Abnormal pulmonary interstitial morphology, Hypotelorism, Emphysema, Gastroesophageal reflux, Eso...	OMIM:613658
3Mc Syndrome 1	Caudal appendage, Clinodactyly of the 5th finger, Patent ductus arteriosus, Spina bifida occulta,...	OMIM:257920
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Intestinal pseudo-obstruction, Finger syndactyly, Arachnodactyly, Short palm, Toe s...	ORPHA:73246
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pro...	OMIM:614886
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Proptosis, High palate, Pulmonic stenosis, Cleft palate, Atri...	OMIM:615102
Senior-Loken Syndrome 8	Polydactyly, Nephronophthisis, Vascular dilatation, Global glomerulosclerosis, Stage 5 chronic ki...	OMIM:616307
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Joubert Syndrome 27	Polydactyly	OMIM:617120
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Horses...	ORPHA:96182
Apert Syndrome	Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndact...	ORPHA:87
7Q11.23 Microduplication Syndrome	Retrognathia, Cubitus valgus, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Hydrocephal...	ORPHA:96121
Cantú Syndrome	Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Abnormal heart valve morphology,...	ORPHA:1517
Abdominal Obesity-Metabolic Syndrome 3	Stroke, Coronary artery stenosis	OMIM:615812
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Atrial septal...	OMIM:619471
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Syndactyly	OMIM:615284
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,...	OMIM:263650
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Micrognathia, Spina bifida occulta	ORPHA:1514
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of hallux, Proximal placement of thumb, Sandal gap, Trache...	OMIM:613458
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Increas...	OMIM:258315
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Anorectal anomaly, Intestinal malro...	ORPHA:567
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Clinodactyly, Transposition of the great arteries, Camptodactyly, Pulmonary artery...	OMIM:280000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Hammertoe, Retinal arterial tortuosity, Hydranencephaly, Hydrocephalu...	OMIM:620371
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Short lower limbs, Abnormal heart morpholo...	OMIM:615873
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ar...	ORPHA:96334
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Proptosis, Clinodactyly, Transposition of the gre...	OMIM:256520
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Abnormal mitral valve morphology, Sy...	ORPHA:1292
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Broad thumb, Abnormal distal phal...	ORPHA:783
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Right aortic arch, Anomalous origin of left coronary artery from the pulmonar...	ORPHA:2326
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Hip subluxation, High, narrow palate, Vascular dilatation, Aortic aneurysm, Congenital bilateral ...	ORPHA:1900
White-Sutton Syndrome	Gastroesophageal reflux, Patent foramen ovale, Mandibular prognathia, High palate, Broad thumb, M...	OMIM:616364
Floating-Harbor Syndrome	Mesocardia, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenital posterior uret...	ORPHA:2044
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Eem Syndrome	Finger syndactyly, Carious teeth, Ectrodactyly	ORPHA:1897
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept...	OMIM:601927
Specc1L-Related Hypertelorism Syndrome	Advanced eruption of teeth, Clinodactyly of the 5th finger, Ectopic kidney, Finger syndactyly, Pr...	ORPHA:1519
Orofaciodigital Syndrome Type 1	Tongue nodules, Cone-shaped epiphysis, Tarsal synostosis, Postaxial hand polydactyly, Deviation o...	ORPHA:2750
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypospadias, Spina bi...	ORPHA:1786
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, Clef...	ORPHA:158687
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hallux valgus, Join...	OMIM:603543
Fraser Syndrome 3	Abnormal lung lobation, Hypoplasia of penis, Hydrocephalus, Micrognathia, Ureteral agenesis, Shor...	OMIM:617667
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car...	ORPHA:439
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Retrognathia, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Campto...	OMIM:617403
Meckel Syndrome, Type 7	Situs inversus totalis, Aortic valve stenosis, Right ventricular hypertrophy, Patent ductus arter...	OMIM:267010
Von Willebrand Disease	Gastrointestinal hemorrhage, Venous insufficiency, Deviation of finger, Abnormal mitral valve mor...	ORPHA:903
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Proptosis, Synostosis of carpal b...	ORPHA:1323
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux	OMIM:619881
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Hypospadias, Short hallux, Finger syndactyly, Toe syndactyly, Hyp...	ORPHA:3224
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Arteriovenous malformation, Ectopic kidney, Delayed eruption o...	ORPHA:2136
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Gastroesophageal reflux, Spina bifida, Coarctation of aorta, Bifid...	OMIM:619480
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Proptosis, Micromelia, Broad hallux, Syndactyly, Bra...	OMIM:614800
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t...	OMIM:600001
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Long penis, Mandibular prognathia, Cardiomyopathy, Furro...	ORPHA:769
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Fontaine Progeroid Syndrome	Retrognathia, Proptosis, Abnormal heart morphology, Recurrent aspiration pneumonia, Syndactyly, L...	OMIM:612289
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Renal cyst, Pulmonic stenosis, Short st...	OMIM:257300
Distal Deletion 6P	Clinodactyly of the 5th finger, Short palm, Micrognathia, Malar flattening, Abnormal epiphysis mo...	ORPHA:96125
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Vascular dilatation, Emphysema, Vesicoureteral reflux...	ORPHA:90349
Nail-Patella Syndrome	Abnormal femur morphology, Coronary artery dissection, Dislocated radial head, Contracture of the...	ORPHA:2614
Adams-Oliver Syndrome 1	Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Cleft palate,...	OMIM:100300
Isolated Exencephaly	Hypoplasia of the frontal bone, Proptosis, Holoprosencephaly, Abnormal facial skeleton morphology	ORPHA:563612
Oligomeganephronia	Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary pyramid morph...	ORPHA:2260
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Hypospadias, Cleft soft palate, Horsesho...	ORPHA:124
Distal Deletion 12Q	Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Overlapping toe, Poly...	ORPHA:96149
Thrombocytopenia 6	Deeply set eye, Hypotelorism	OMIM:616937
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Finger syndactyly, Bilateral cleft palate, Abnormal d...	ORPHA:3253
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Hypospadias, Pulmonary artery stenosis, Congenital pulmonary airway malf...	OMIM:611812
Tangier Disease	Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis, Left ventricular ...	ORPHA:31150
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypotelorism, Hypospadias, High palate, Uric acid nephrolithiasis, Urolithiasis, Hyperuricosuria,...	OMIM:300661
Okamoto Syndrome	Polydactyly, Anal stenosis, Urinary incontinence, Abnormal left ventricle morphology, Gastroesoph...	ORPHA:2729
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Choanal Atresia	Polydactyly, Recurrent respiratory infections, Chronic sinusitis, Tracheomalacia	ORPHA:137914
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, High, narrow palate, Supernumerary tooth, Spina bifida occulta, Finger synd...	ORPHA:1787
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ...	OMIM:302960
Sclerosteosis 1	Mandibular prognathia, Proptosis, Abnormal pelvic girdle bone morphology, Deviation of finger, Co...	OMIM:269500
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic aciduria, Hypospadias, Noncompaction cardiomyopathy, 3-Methylglutaric aciduria...	OMIM:610198
Intellectual Developmental Disorder, Autosomal Recessive 65	Contracture of the proximal interphalangeal joint of the 4th finger, Hypospadias, Secundum atrial...	OMIM:618109
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Nephrolithiasis, Non-small cell lung carcinoma, Pulm...	ORPHA:137605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Pelvic kidney, Patent foramen ovale, 2-3 toe syndactyly, High palate, Vesicouret...	OMIM:618653
Bardet-Biedl Syndrome 1	High, narrow palate, Radial deviation of finger, Aganglionic megacolon, Postaxial hand polydactyl...	OMIM:209900
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Patent ductus arteriosus, Pulmonary artery atresia, Pulmonic stenos...	OMIM:614609
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Laryngotracheomalacia, Abnormal epiphysis morp...	ORPHA:503
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Proptosis, High palate, Spina bifida, Micrognathia, Cleft ...	OMIM:616038
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p...	OMIM:610978
Marfan Syndrome	Retrognathia, Arachnodactyly, Equinus calcaneus, Mitral valve prolapse, Mitral annular calcificat...	OMIM:154700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Aortic valve stenosis, Abnormal heart morphology, Abn...	ORPHA:268261
Arboleda-Tham Syndrome	Sandal gap, Proptosis, Pulmonic stenosis, Intestinal malrotation, Upper limb amyotrophy, Recurren...	OMIM:616268
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Proptosis, Wrist flexion contracture, Shallow orbits, Short humerus, ...	OMIM:268300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, High, narrow palate, Gastroesophageal reflux, Slender long bone, Upper li...	ORPHA:369837
Parkes Weber Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila...	ORPHA:90307
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly, Renal cyst, Hypospadias	OMIM:605231
Axenfeld-Rieger Syndrome, Type 3	Proptosis, Malar flattening, Patent ductus arteriosus, Atrial septal defect, Hypertelorism	OMIM:602482
X-Linked Mandibulofacial Dysostosis	High palate, Pulmonic stenosis, Abnormal mitral valve morphology, Micrognathia, Abnormality of th...	ORPHA:1131
Cardiofaciocutaneous Syndrome	Genu valgum, Deep palmar crease, Cubitus valgus, Abnormality of the gastrointestinal tract, Hydro...	ORPHA:1340
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Aortic valve stenosis, Pulmonic stenosis, Broad thumb, Abnormal h...	ORPHA:353281
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hydrocephalus, Histiocytoid cardiomyopathy, Single transverse palmar crease, Anal at...	OMIM:309801
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Nephrocalcinosis	ORPHA:500533
Au-Kline Syndrome	Retrognathia, Deep palmar crease, Clinodactyly of the 5th finger, Gastroesophageal reflux, Chroni...	OMIM:616580
Tetrasomy 9P	Bilateral single transverse palmar creases, Juxtaductal coarctation of the aorta, Aplasia/Hypopla...	ORPHA:3310
Noonan Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Proptosis, High palate, Hypertrophic ca...	ORPHA:648
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Recurrent lower respiratory tract infections, Recurrent respiratory infections,...	OMIM:612541
Neurooculorenal Syndrome	Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Short hallux, Hyd...	OMIM:620305
Costello Syndrome	Pneumothorax, Limited elbow movement, Lymphangiectasis, Deep palmar crease, Tracheomalacia, Hydro...	OMIM:218040
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Ctcf-Related Neurodevelopmental Disorder	Clinodactyly of the 5th finger, Recurrent lower respiratory tract infections, Sandal gap, Joint c...	ORPHA:363611
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Hypoplasia of teeth, Abnormal palmar dermatoglyphics, Cleft palate,...	ORPHA:2728
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic...	ORPHA:246
Oculocerebrocutaneous Syndrome	Hydrocephalus, Finger syndactyly, Missing ribs, Congenital hip dislocation, Aplasia/Hypoplasia of...	ORPHA:1647
Cardiofaciocutaneous Syndrome 1	Deep palmar crease, Cubitus valgus, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hydr...	OMIM:115150
Short Stature With Microcephaly And Distinctive Facies	Proximal placement of thumb, Proptosis, Syndactyly, Brachydactyly, Microretrognathia, Short dista...	OMIM:615789
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Sandal gap, Proptosis, Dysphagia, Cardiomegaly, Bicuspi...	OMIM:300855
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Spina bifida occulta, Gastroesophageal reflux, Camptodactyly, Hypertelorism, Atrial septal defect...	OMIM:617360
Saethre-Chotzen Syndrome	Narrow palate, Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pelvic girdle bo...	OMIM:101400
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Gastroesophageal reflux, Dislocated radial head, Single transver...	OMIM:619297
Microphthalmia, Syndromic 2	Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, 2-3 toe...	OMIM:300166
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Arteriovenous fistula, Finger aplasia, Hand polydactyly, Syndactyly	OMIM:149000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Dental malocclusion, Macrogl...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Dental malocclusion, Macrogl...	ORPHA:352665
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Hypospadias, Dislocated radial head, High palate, Camptodactyly, Camptodactyl...	OMIM:265000
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Midgut malrotation, Congenital hip dislocation,...	OMIM:263750
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Broad thumb, Hypospadias, Postaxial ha...	ORPHA:373
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect, Hypertelorism, Vesicoureteral reflux	OMIM:615879
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Shallow orbits, Ureteral stenosis, Short distal phalanx of finger, Increased densi...	OMIM:269150
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, High palate, Anal atresia...	ORPHA:989
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly, Finger aplasia	OMIM:207770
Thauvin-Robinet-Faivre Syndrome	Renal cyst, Long hallux, Large hands, Bifid ureter, Mitral valve prolapse, Deeply set eye, Ventri...	OMIM:617107
Wolf-Hirschhorn Syndrome	Hypospadias, Hypoplastic pubic ramus, Short hallux, Recurrent respiratory infections, Abnormal he...	ORPHA:280
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Blepharocheilodontic Syndrome 2	Hypertelorism, Cutaneous syndactyly	OMIM:617681
Alagille Syndrome 1	Hypoplasia of the ulna, Stage 5 chronic kidney disease, Renal tubular acidosis, Stroke, Hepatocel...	OMIM:118450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Clubbing, Hamartomatous polyposis, A...	OMIM:175050
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Single transv...	ORPHA:459070
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Hyperextensibility of the finger joints, Postaxial hand polydactyly, H...	OMIM:213980
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Marfan Syndrome	Limited elbow movement, Retrognathia, Aortic tortuosity, Arterial dissection, Arachnodactyly, Mit...	ORPHA:558
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Cleft palate, Atrial septal defect, Ventricular septal defect, Deeply set eye	ORPHA:261190
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Hypospadias, Finger syndactyly, Cleft palate, Hypertelorism	ORPHA:66629
Oculodentodigital Dysplasia	Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Neurogenic bladder, S...	OMIM:164200
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Multiple renal cyst...	ORPHA:857
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Pleural effusion, Pericardial effusion, Atrial septal defect, Varic...	OMIM:617300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Anal stenosis, Shortening of all distal phalanges of the fingers, Cleft pa...	OMIM:614207
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Camptodactyly, Short proximal ...	ORPHA:261323
Joubert Syndrome 3	Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Microtia	Holoprosencephaly	ORPHA:83463
Trisomy 20P	Abnormal hip bone morphology, Hypospadias, Finger syndactyly, Ectopic anus, Spina bifida, Abnorma...	ORPHA:261318
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Congenital hip dislocation, Contracture of the proximal interp...	ORPHA:457279
Noonan Syndrome 1	High, narrow palate, Radial deviation of finger, Cubitus valgus, Hypospadias, Dental malocclusion...	OMIM:163950
Transaldolase Deficiency	Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:606003
Coffin-Siris Syndrome	Hypospadias, Horseshoe kidney, Delayed eruption of teeth, Aspiration pneumonia, Abnormal heart mo...	ORPHA:1465
Bdv Syndrome	Atrial septal defect, Micrognathia, Micropenis	OMIM:619326
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Proptosis, Coarse metaphyseal trabecularization, Hip...	OMIM:620558
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Hypoplasia of the primary teeth, Gastroesophageal reflux, Recurrent res...	OMIM:618371
Syndromic Diarrhea	Villous atrophy, Gastritis, Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphol...	ORPHA:84064
Bartsocas-Papas Syndrome	Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Cleft pa...	ORPHA:1234
Pagod Syndrome	Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Spina bifida, Pul...	ORPHA:991
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Hydrocephalus, Prominent fingertip pads, High palate, Microgn...	OMIM:147920
Orofaciodigital Syndrome Type 4	Retrognathia, Proptosis, Bifid uvula, Genu varum, Perineal fistula, Postaxial hand polydactyly, M...	ORPHA:2753
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus	OMIM:620327
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypoplastic aortic arch, Hydrocephalus...	ORPHA:457284
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro...	OMIM:178600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Chromosome 8Q21.11 Deletion Syndrome	High palate, Short metacarpal, Camptodactyly, Micrognathia, Cleft palate, Syndactyly, Absent palm...	OMIM:614230
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ...	ORPHA:1005
Peters Plus Syndrome	Ureteral duplication, Pulmonic stenosis, Abnormal cardiac septum morphology, Rhizomelia, Hypospad...	ORPHA:709
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Increased fecal calprotectin level, Atrioventricular canal defect, Necrotiz...	OMIM:619573
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Sh...	OMIM:261540
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Deep palmar crease, Recurrent respiratory infections, Hydrocephalus, Patent fora...	ORPHA:505248
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Mogs-Cdg	Pulmonary edema, Retrognathia, High palate, Left ventricular hypertrophy, Cardiomegaly, Atrial se...	ORPHA:79330
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Cardiomyopathy, Proptosi...	OMIM:216340
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Muscular ventricular septal defect, Tarsal synostosis, Horseshoe kidney, G...	OMIM:157800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology	ORPHA:99947
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, ...	ORPHA:1556
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Gastroesophageal reflux, Elbow flexion contracture, Triceps we...	ORPHA:70
Genitopatellar Syndrome	Hypoplastic ischia, Dysphagia, Malrotation of small bowel, Short phalanx of finger, Radioulnar sy...	OMIM:606170
Diphallia	Penoscrotal transposition, Epispadias, Abnormality of the gastrointestinal tract, Ureteral duplic...	ORPHA:227
Cardiac Valvular Dysplasia 2	Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val...	OMIM:620067
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Aplas...	ORPHA:2658
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Urinary incontinence, Sandal gap, Oral-pharyngeal dyspha...	ORPHA:404448
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation, Abn...	ORPHA:83454
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Anal stenosis, Gastroesophageal reflux, Proptosis, Camptodactyly, S...	OMIM:620029
Lymphatic Malformation 6	Atrial septal defect, Intestinal lymphangiectasia, Gastroesophageal reflux, Chylothorax, Pleural ...	OMIM:616843
Alzahrani-Kuwahara Syndrome	Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Micrognathia, Persistent left supe...	OMIM:619268
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Hypertelorism, Syndactyly, Aspiration pneumonia	OMIM:616430
Joubert Syndrome 33	Syndactyly	OMIM:617767
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Tricuspid valve prolapse, Hiatus hernia, High palate, Intestinal malrotation, Arach...	OMIM:601776
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Bifid uvula, Dysphagia, Abnormality of the anus, Bicuspid aortic valve, Short 5th...	OMIM:607872
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cubitus valgus, Hypospadias, Epiphyseal stippling, Single transverse palmar crease, Polycystic ki...	OMIM:614866
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Renpenning Syndrome 1	Situs inversus totalis, Clinodactyly of the 5th finger, Hypospadias, Phimosis, Mandibular prognat...	OMIM:309500
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Ascending tubular aorta aneurysm, Arachnodactyly, Bladder diverticulum, Vascular tortu...	OMIM:219100
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, ...	ORPHA:198
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va...	ORPHA:1880
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Dilatation of celiac artery, High palate, Tortuous cerebral arteries, ...	OMIM:619329
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Enlarged kidney, Foot polydactyly, 2-4 toe syndactyly, Abnormal venous morphology, ...	ORPHA:276280
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Familial Multiple Nevi Flammei	Abnormality of the upper limb, Arteriovenous malformation, Intracranial hemorrhage, Venous insuff...	ORPHA:624
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Renal tubular acidosis, Hydrocephalus, Hematochezia, Recurrent respiratory i...	OMIM:619575
Immunodeficiency 49	Pulmonary artery stenosis, Micrognathia, Hypertelorism, Natal tooth	OMIM:617237
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Crumpled long bones, Femoral retroversion, Hypoplastic pulmonary veins, Proptosis, Mi...	OMIM:610682
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respiratory infections, Patent...	ORPHA:209905
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne...	OMIM:236700
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Venous malformation, Sandal gap, Renal hypoplasia, Spinal dysraphism	OMIM:612918
3Mc Syndrome 3	Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Cleft palate, Radioulnar synosto...	OMIM:248340
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ...	ORPHA:555874
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, Pollakisuria, High palate, Short foot, Camptodacty...	OMIM:227330
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Chronic kidney disease, Double outlet right ventricle, Atrial septal defec...	ORPHA:1667
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Restrictive card...	ORPHA:75565
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Werner Syndrome	Rocker bottom foot, Atherosclerosis, Neoplasm of the small intestine, Neoplasm of the lung, Pulmo...	ORPHA:902
Turner Syndrome Due To Structural X Chromosome Anomalies	Retrognathia, Ectopic kidney, Arterial dissection, Abnormal forearm bone morphology, Splayed toes...	ORPHA:99413
Mosaic Monosomy X	Retrognathia, Ectopic kidney, Arterial dissection, Abnormal forearm bone morphology, Splayed toes...	ORPHA:99228
Monosomy X	Retrognathia, Ectopic kidney, Arterial dissection, Abnormal forearm bone morphology, Splayed toes...	ORPHA:99226
Turner Syndrome	Retrognathia, Ectopic kidney, Arterial dissection, Abnormal forearm bone morphology, Splayed toes...	ORPHA:881
Oculoectodermal Syndrome	Patent ductus arteriosus, Giant cell granuloma of mandible, Proptosis, Transient ischemic attack,...	OMIM:600268
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, High palate, Camptodactyl...	ORPHA:284160
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	High palate, Syndactyly, Hypertelorism, Aminoaciduria, Ketonuria	OMIM:614520
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Clinodactyly, Hemolytic-uremic syndrome, Syndactyly	ORPHA:2169
Wolf-Hirschhorn Syndrome	Proptosis, Malrotation of small bowel, Craniofacial asymmetry, Hip dislocation, Hypospadias, Hydr...	OMIM:194190
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Abnormal dental ena...	ORPHA:1071
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Recurrent respiratory infections, Clubbing of fingers, Right atrial enla...	ORPHA:99106
Kaposi Sarcoma	Abnormal lung morphology, Abnormality of the gastrointestinal tract, Venous insufficiency	ORPHA:33276
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, High palate, Hypertrophic ca...	OMIM:617506
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Cardiomyopathy, Abnormal heart morphology, Syndactyly, Multipl...	ORPHA:110
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten...	OMIM:618223
Restrictive Dermopathy	Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias, Ascending t...	ORPHA:1662
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Fetal Alcohol Syndrome	Atrial septal defect, Cleft palate, Micrognathia	ORPHA:1915
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intestinal malrotation, Patent foramen ovale, Esophageal var...	OMIM:301068
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Dysphagia, Short 5th finger, Short finger, Hypospadias, Abnormality of the ...	OMIM:619522
Spondyloocular Syndrome	Femur fracture, Duodenal ulcer, Long toe, Dysplastic aortic valve, Arachnodactyly, Long fingers, ...	OMIM:605822
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Clubbing, A...	ORPHA:97214
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Upper limb asymmetry, Arteriovenous malformation, Venous insufficiency	ORPHA:137608
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Holoprosencephaly, Median cleft palate, Abnormal digit morphology	ORPHA:95494
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Descending aortic dissection, Mitral valve prolapse, Cystocele, Diffuse ...	OMIM:130050
Monosomy 9Q22.3	Polydactyly, Palmar pits, Delayed eruption of teeth, Hydrocephalus, Cardiac fibroma	ORPHA:77301
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Zttk Syndrome	Polyuria, Intestinal atresia, Unilateral renal agenesis, Horseshoe kidney, High palate, Short foo...	OMIM:617140
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnormal heart mo...	ORPHA:261537
Restrictive Dermopathy 1	Rocker bottom foot, Ureteral duplication, Hypospadias, Short clavicles, Osteolytic defects of the...	OMIM:275210
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Polycystic kidney dysplasia, Aortic valve stenosis, Inte...	OMIM:208540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Patent foramen ovale, Pericardial effusion, Pneumonia, Dilated cardiomyopat...	ORPHA:26793
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Recurrent respiratory infections, Primu...	ORPHA:1478
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Hypospadias, Hypoplasia of the maxilla, Carious teeth, Velopharynge...	OMIM:129400
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Absent thumb, Syndactyly, Dysphagia, Clinodactyly, Hypoplasia of the radius, Duplica...	ORPHA:2363
Autosomal Dominant Cutis Laxa	Emphysema, Unilateral renal agenesis, Aortic aneurysm, Bronchiolitis, Coarctation of aorta, Small...	ORPHA:90348
Alstrom Syndrome	Polydactyly, Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Renal insufficiency, Atheros...	OMIM:203800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Patent ductus arteriosus, 11 pairs of ribs, Patent foramen ovale, Renal hypoplasia, Micrognathia,...	OMIM:620005
Ramos-Arroyo Syndrome	Aganglionic megacolon, Smooth tongue, Carious teeth, Patent ductus arteriosus, Atrial septal defe...	ORPHA:1051
Proteus-Like Syndrome	Bronchogenic cyst, Venous insufficiency, Hydrocephalus, Mandibular prognathia, Communicating hydr...	ORPHA:2969
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, High palate, Hypertrophic cardiomyopathy, Pulmoni...	OMIM:609942
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Proptosis, Coxa valga, Hip dislocation, Hypospadias, Micromeli...	ORPHA:3107
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Mandibular prognathia, Bifid uvula, Syndactyly, Broad palm	OMIM:618505
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Immunodeficiency 47	Hypotelorism	OMIM:300972
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal finger morphology, Nephrocalcinosis,...	ORPHA:79500
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Long fin...	OMIM:617527
Prader-Willi Syndrome	Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Carious...	OMIM:176270
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Hypoplasia of penis, Oli...	ORPHA:199
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Recurrent respiratory infections, Tracheomalacia, Hydrocephalus, Aortic aneurysm, Pr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Recurrent respiratory infections, Tracheomalacia, Hydrocephalus, Aortic aneurysm, Pr...	ORPHA:363958
Acromelic Frontonasal Dysostosis	Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Patellar hypoplasia, Encephalo...	OMIM:603671
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Proximal renal tubular acidosis	OMIM:615824
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Hypoplasia of the maxilla, Camptodactyly of finger, Submucous clef...	ORPHA:178303
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Hypospadias, Aortic root aneurysm, Chordee, Submucous cleft hard palate, De...	OMIM:618891
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Delayed eruption of teeth, Hydrocephalus, Bowing of the long bone...	ORPHA:667
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Patent ductus arteriosus, Hallux valgus, Cardiomyopathy, Short foot, Anal atresia, Slender finger...	ORPHA:480880
Mowat-Wilson Syndrome	Urinary incontinence, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Bifid ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnormal heart mo...	ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Hallux valgus, Patent foramen ovale, Ventricular se...	OMIM:300967
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hypospadias, Hydroureter, Delayed e...	ORPHA:568
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Shallow orbits, Left ventricular hypertrophy, Atrial septal defect, Hypertelorism	OMIM:620510
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Magel2-Related Prader-Willi-Like Syndrome	Gastroesophageal reflux, Recurrent respiratory infections, Hip dysplasia, Atrial septal defect, M...	ORPHA:398069
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hypertrophy, Mitral...	ORPHA:363618
Cerebrooculonasal Syndrome	Narrow palate, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, High palate, Postaxial p...	OMIM:605627
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Cleft palate	ORPHA:1252
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Atrial septal defect, Communicating hydrocephalus, Right atrial enlargement	OMIM:615219
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hypoplasia of t...	OMIM:149730
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Gastroesophageal reflux, Recurrent respiratory infections, Single transverse palmar crease, Paten...	OMIM:620186
Kbg Syndrome	Epispadias, Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar ...	OMIM:148050
Menkes Disease	Abnormal metaphysis morphology, Abnormal carotid artery morphology, Gastrointestinal hemorrhage, ...	ORPHA:565
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr...	OMIM:612098
Focal Dermal Hypoplasia	Midclavicular aplasia, Ureteral duplication, Short ribs, Short metacarpal, Myelomeningocele, Spli...	OMIM:305600
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Patent ductus arteriosus, Slender finger, Long fingers, Secundum atrial septal defect, Tibial tor...	OMIM:613355
Foix-Alajouanine Syndrome	Cervical myelopathy, Urinary incontinence, Venous malformation, Arteriovenous fistula, Neurogenic...	ORPHA:79093
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Abnormal left ventricle morphology, Gastroes...	ORPHA:466791
Mowat-Wilson Syndrome	Aganglionic megacolon, Hypospadias, Delayed eruption of teeth, Pulmonic stenosis, Submucous cleft...	OMIM:235730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, High palate, Vesicoureteral reflux, Hip contracture, Micrognathia, Mal...	OMIM:300868
Gjc2-Related Late-Onset Primary Lymphedema	Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Eec Syndrome	Proximal placement of thumb, Hypospadias, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abn...	ORPHA:1896
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Varicose veins, Venous malformation	OMIM:613089
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Short 4th metacarpal, Finger syndactyly, Abnormal dental enamel morpholo...	ORPHA:2908
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly, Malar flattening, Recurrent upper r...	OMIM:210900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, High palate, Vertical orbital dystopia, Aplasia/...	ORPHA:1521
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly, Cleft palate	ORPHA:2890
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Split hand, Micrognathia, Cleft palate, Fibrous syngnathia, Toe syndactyly	ORPHA:1300
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele, Bilateral talipes...	OMIM:600145
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Abnormal heart morphology, Absent thumb, Bifid uvula, Dysphagia, Patent ductus ar...	ORPHA:500150
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Clapo Syndrome	Macrodactyly, Varicose veins, Venous malformation, Hemihypertrophy of upper limb	ORPHA:168984
Fraser Syndrome	Anorectal anomaly, Hypoplasia of penis, Myelomeningocele, Tracheal stenosis, Hypospadias, Encepha...	ORPHA:2052
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Retrognathia, Clinodactyly of the 5th finger, Finger syndac...	OMIM:607932
Orotic Aciduria	Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect	OMIM:258900
Norrie Disease	Deeply set eye, Hypotelorism, Malar flattening, Venous insufficiency	ORPHA:649
Dubowitz Syndrome	Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Delayed eruption of teeth, ...	OMIM:223370
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormal mitral valve morphology, Short hard palate, Genu varum	ORPHA:1969
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, High palate, Proximal placement of thumb, Postaxial foot polydactyly	ORPHA:139471
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Hypertelorism	ORPHA:163681
Pallister-Killian Syndrome	Proptosis, Aortic valve stenosis, Intestinal malrotation, Bifid uvula, Hip dislocation, Rhizomeli...	OMIM:601803
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, 2-3 toe syndactyly, Bilateral talipes equinovarus, Equinus calcaneus, At...	ORPHA:522077
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Abnormal hip bone morphology, Abnormal metacarpal morp...	ORPHA:2907
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Deep palmar crease, Cubitus valgus, High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, ...	OMIM:607721
Autosomal Recessive Faciodigitogenital Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Short foot, Micrognathia, Brachyd...	ORPHA:1974
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, Vesicouret...	ORPHA:438213
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Abnormal finger mor...	ORPHA:744
Atypical Werner Syndrome	Rocker bottom foot, Premature arteriosclerosis, Osteolytic defects of the phalanges of the hand, ...	ORPHA:79474
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Recurrent bronchitis, Mandibular prognathia, Ventricular septal defect, High palate, ...	OMIM:620330
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Lymphatic Malformation 13	Atrial septal defect, Patent foramen ovale, Hypertelorism, Patent ductus arteriosus	OMIM:620244
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Atrial septal defect	ORPHA:457351
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Monosomy 22	Retrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease,...	ORPHA:96123
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Microphthalmia, Syndromic 1	Radial deviation of finger, Prominent fingertip pads, Abnormal palmar dermatoglyphics, Syndactyly...	OMIM:309800
Sotos Syndrome	Ureteral duplication, Abnormal heart morphology, Congenital posterior urethral valve, Aganglionic...	ORPHA:821
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Oligodactyly, Bifid uvula, Cleft palate, Synda...	ORPHA:69085
Incontinentia Pigmenti	Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morpho...	ORPHA:464
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Pneumonia, Protein-losing enteropathy, Hypospadias, Chr...	OMIM:619991
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Dilatation of celiac artery, Art...	OMIM:187300
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect	OMIM:620423
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Esophageal atresia, Hypoplasia of penis, Abnormal pelvis bone oss...	ORPHA:93271
Hypermobile Ehlers-Danlos Syndrome	Rectal prolapse, Abnormality of the wrist, High, narrow palate, Anorectal anomaly, Gastroesophage...	ORPHA:285
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Premature arteriosclerosis, Premature coronary artery atherosclerosis...	ORPHA:391665
Fraser Syndrome 2	Rectal atresia, Unilateral renal agenesis, Anal atresia, Intestinal malrotation, Renal hypoplasia...	OMIM:617666
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Pulmonic stenosis, Atrial septal defect, Horseshoe kidney	ORPHA:3109
Livedoid Vasculopathy	Ischemic stroke, Varicose veins, Abnormal capillary morphology, Venous insufficiency	ORPHA:542643
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy	ORPHA:139396
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Adrenomyeloneuropathy	Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:139399
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hypoplasia of the primary teeth, Clinodactyly of th...	OMIM:243800
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Vesicovaginal fistula, Mandibular prognathia, High palate, Enamel hypopl...	OMIM:300896
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Postaxial hand polydactyly, Ectrod...	OMIM:308205
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology	ORPHA:68
Mosaic Trisomy 20	Abnormal spinal cord morphology	ORPHA:1724
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Familial Cerebral Cavernous Malformation	Cerebral hemorrhage, Venous malformation	ORPHA:221061

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dync2h1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dync2h1.

No publications found that use IMPC mice or data for Dync2h1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dync2h1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dync2h1^{em1(IMPC)Rbrc}	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dync2h1 MGI:107736

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Dync2h1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data