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Gene: Dync2h1 MGI:107736

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Gene Summary

Name:
dynein cytoplasmic 2 heavy chain 1
Synonyms:
Dnchc2,  4432416O06Rik,  m407Asp,  DHC2,  DHC1b,  m152Asp,  D030010H02Rik,  b2b414Clo,  D330044F14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dync2h1em1(IMPC)Rbrc HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Jeune Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Brachydactyly, Nephropathy, Postaxial hand p... ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Anal atresia, Hypoplasia of penis, Short ribs, Micrognathia, Bifid tongue, Micromel... ORPHA:93271

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... OMIM:217085
Cardioacrofacial Dysplasia 2
Clinodactyly of the 5th finger, Atrioventricular canal defect, Left superior vena cava draining t... OMIM:619143
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Hypotel... OMIM:264480
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... OMIM:619343
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Split foot, Congenital megaureter, Mi... ORPHA:2437
17Q12 Microduplication Syndrome
Deeply set eye, Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Finger syndactyly,... ORPHA:261272
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... OMIM:619142
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation... OMIM:306955
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Encephalocele, Holoprosencephaly, Micrognathia, Micromelia, Anenceph... ORPHA:1908
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Cleft pa... OMIM:617063
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Micrognathia, Coronary-pulmonary artery fistula, Patent foramen ovale, Hypertelorism OMIM:619699
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect, Bronchomalacia, Hypertelorism, Aplasia/Hypoplasia... OMIM:277740
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Hadziselimovic Syndrome
High palate, Anal atresia, Hypotelorism, Atrial septal defect, Tetralogy of Fallot, Pulmonary art... OMIM:612946
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Xk Aprosencephaly Syndrome
Anal atresia, Hypotelorism, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... ORPHA:3469
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
6P22 Microdeletion Syndrome
Hydrocephalus, Hypotelorism, Deeply set eye, Patent ductus arteriosus, Clinodactyly, Hydronephros... ORPHA:251046
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... OMIM:190685
Ellis-Van Creveld Syndrome
Acetabular spurs, Atrial septal defect, Talipes equinovarus, Short ribs, Cone-shaped epiphyses of... OMIM:225500
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... ORPHA:2538
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Abnormal lung lobation, Postaxial hand polydactyl... ORPHA:945
Distal Monosomy 13Q
Abnormal cardiac septum morphology, Anal atresia, Encephalocele, Holoprosencephaly, Abnormality o... ORPHA:1590
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Encephalocele, Holoprosencephaly, Micromelia, Brachydactyly,... ORPHA:93274
Tonne-Kalscheuer Syndrome
Hypotelorism, Velopharyngeal insufficiency, Malar flattening, Micropenis, Micrognathia, Hypospadi... OMIM:300978
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Absent thumb, Micropenis, Tracheoesophageal fistula, Coarctation... OMIM:300514
Acces Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Retrognathia, Tracheoesophageal fistula... OMIM:619959
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Tetralogy of Fallot ORPHA:276422
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short ti... OMIM:617925
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Hypotelorism, Ventricular ... OMIM:618974
Vacterl/Vater Association
Abnormal cardiac septum morphology, Anal atresia, Hypoplasia of penis, Cleft palate, Preaxial han... ORPHA:887
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Short Stature-Micrognathia Syndrome
High palate, 2-3 toe syndactyly, Hypotelorism, Cleft palate, Micropenis, Retrognathia, Metaphysea... OMIM:617164
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Cleft palate, Long fingers, Ventricular septal defect, Dextro... OMIM:614294
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality of... ORPHA:476126
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Esophage... ORPHA:1923
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Malar f... ORPHA:1388
Hamamy Syndrome
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Atrial septal defect, Short 2nd... OMIM:611174
Holoprosencephaly 5
High palate, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelence... OMIM:609637
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hypertelorism, Tracheomalacia, Micrognathia, Tracheoesophageal fistula, Coarctatio... ORPHA:268249
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Hypotelorism, Brachydactyly, Postaxial hand polydactyly, Postaxia... OMIM:193530
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hypospadias, 11... ORPHA:77298
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:210122
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Adducted thumb, Holoprosencephaly, Micrognathia, Camptodactyly of finger, Abnorma... ORPHA:2570
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Hypertelorism, Gastroesophageal reflux, Morphological abnormality of... ORPHA:1834
Rhombencephalosynapsis
Anal atresia, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Polydactyly, Short pha... ORPHA:59315
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Holoprosencephaly, Single ventricle, Retrognathia, Micr... OMIM:619879
Trisomy 1Q
Anal atresia, Hydrocephalus, Hypotelorism, Microretrognathia, Cleft palate, Congenital megaureter... ORPHA:261344
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism, Genu varum, Patent ductus arteriosus, Bowing of the long bones, Coarse metaphyseal ... ORPHA:1952
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Hypoplasia of penis, Cleft palate, Holoprosenc... ORPHA:3376
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal heart morphology ORPHA:1445
Monosomy 13Q34
Pulmonic stenosis, Micrognathia, Hematochezia, Postaxial hand polydactyly, Common atrium, Postaxi... ORPHA:96168
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Trisomy 13
Ectrodactyly, Deeply set eye, Atrial septal defect, Hypotelorism, Malar flattening, Cleft palate,... ORPHA:3378
Congenital Contractural Arachnodactyly
High palate, Duodenal atresia, Arachnodactyly, Tracheoesophageal fistula, Camptodactyly of finger... ORPHA:115
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Cone-shaped epiphysis, A... ORPHA:2511
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Semilobar holoprosencephaly, Hypertelorism, Preaxial foo... OMIM:245552
Congenital Tracheomalacia
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... ORPHA:95430
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Hypotelorism, Hand oligodactyly, Absent thumb, Hypop... OMIM:602418
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Clinodactyly of the 5th finger, High palate, Hypotelorism OMIM:314320
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal tracheobron... ORPHA:141127
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypotelorism, Hypoplastic left heart, Micrognathia, B... ORPHA:2209
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypotelorism, Cleft palate, Veloph... OMIM:614701
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Hypotelorism, High palate, Fifth finger distal phalanx clinodactyly ORPHA:3369
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Mosaic Trisomy 9
High palate, Cleft palate, Micromelia, Finger clinodactyly, Ventricular septal defect, Horseshoe ... ORPHA:99776
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Abnormality of femur... ORPHA:84
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... OMIM:618142
Townes-Brocks Syndrome 1
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Anal atresia, Rectoperineal ... OMIM:107480
Frontoocular Syndrome
High palate, Hypotelorism, Atrial septal defect, Pulmonic stenosis, Micrognathia, Proptosis OMIM:605321
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect OMIM:601348
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Tracheomalacia, Micrognathia, Sit... OMIM:202650
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Malar flattening, Apla... ORPHA:52056
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Hypoplasia of penis,... ORPHA:3082
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypotelorism, Absent thumb, Micropenis, Partial duplication of thumb phalanx, Abse... OMIM:227646
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Amelia, Anterior encephalocele, Ventricular septal defect, Bilate... OMIM:601357
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Radial club hand, Abnormal morphology of the radius, Proptosis, ... ORPHA:2165
Pallister-Hall Syndrome
Cleft palate, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed anus, Distal sho... OMIM:146510
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly ORPHA:2935
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Hypotelorism, Cleft palate, Atrioventricular canal defect, Pulmon... OMIM:619123
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Short thumb,... ORPHA:401935
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Hydrolethalus Syndrome 1
Talipes equinovarus, Cleft palate, Micrognathia, Hypospadias, Proximal tibial hypoplasia, Anencep... OMIM:236680
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Deeply... OMIM:618454
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Communicating hydrocephalus, Tetralogy of Fallot, Ventri... ORPHA:1780
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Deeply set eye, Talipes equinovarus, Hypotelorism, Cleft palate, Holoprosencephaly, ... OMIM:612530
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cleft lip and pal... OMIM:269860
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Ven... ORPHA:7
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... ORPHA:2745
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... ORPHA:1515
Baller-Gerold Syndrome
High palate, Abnormal cardiac septum morphology, Anal atresia, Hypotelorism, Malabsorption, Hand ... ORPHA:1225
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... OMIM:220210
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Tracheoesophageal fistula, Tracheal stenosis, Intestinal atresia ORPHA:93941
Distal Monosomy 10Q
High palate, Prominent fingertip pads, Cleft palate, Tapered finger, Single transverse palmar cre... ORPHA:96148
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Hypotelorism, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Campt... OMIM:601016
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia of the radius, Micrognathia... ORPHA:958
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Hypotelorism, Hypoplasia of the premaxilla, An... ORPHA:2166
Alkuraya-Kucinskas Syndrome
High palate, Overlapping toe, Hydrocephalus, Hypotelorism, Talipes equinovarus, Adducted thumb, M... OMIM:617822
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Hydrocephalus, Malar flattening, Postaxial polydactyly, Preaxial pol... OMIM:612651
Camptodactyly Syndrome, Guadalajara, Type Ii
Hypotelorism, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Brachydactyly, Slender ... OMIM:211920
Mosaic Variegated Aneuploidy Syndrome 2
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Deeply set eye, Hypotelor... OMIM:614114
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Deeply set eye, Atrial septal defect, Hypospadias... OMIM:618316
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Micrognathi... ORPHA:1636
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Hypotelorism, Malar flattening, Abnormality of the hand, Micrognathia, Ulnar deviati... ORPHA:1387
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Patent ductus arterio... OMIM:620024
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Hypoplasia of the max... ORPHA:439822
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Hypotelorism, Microretrognathia, Atrioventricular canal defect, Arachno... ORPHA:276413
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Clinodactyly of the 5th finger, Deeply set eye, Hypotelorism, Malar flattening, Small hand, Taper... OMIM:618672
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Clinodactyly of the 5th finger, Atrial septal defect, Retrognathia, Trac... OMIM:301030
Esophageal Atresia
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... ORPHA:1199
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Encephalocele, Sp... ORPHA:63862
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophag... OMIM:619534
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Abn... OMIM:249670
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx, Short middle... OMIM:617926
Acrootoocular Syndrome
Dental malocclusion, Short toe, Decreased palmar creases, Hypotelorism, Abnormal finger flexion c... ORPHA:2980
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Gastroesophageal reflux, Atri... OMIM:600123
49,Xxxxy Syndrome
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Coxa valg... ORPHA:96264
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Tracheoesophag... ORPHA:3068
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Holoprosencephaly, Micropenis, Brachydactyly, Tapered finger, Short finger OMIM:610680
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal cys... OMIM:228940
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Retrognathia, Tracheoesophageal fistula, Un... OMIM:619227
Braddock Syndrome
Hypotelorism, Unilateral renal agenesis, Micrognathia, Missing ribs, Pulmonary fibrosis, Preaxial... ORPHA:52047
Smith-Lemli-Opitz Syndrome
Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviation of finge... ORPHA:818
Bardet-Biedl Syndrome 7
Deeply set eye, 2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Polydactyly, Clinoda... OMIM:615984
14Q11.2 Microdeletion Syndrome
High palate, Deeply set eye, Toe clinodactyly, Micrognathia, Ventricular septal defect, Patent du... ORPHA:261120
Diamond-Blackfan Anemia 6
Atrial septal defect, Cleft palate, Tracheomalacia, Retrognathia, Micrognathia, Bifid uvula, Tetr... OMIM:612561
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Holoprosencephaly OMIM:300706
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism, Syndactyly, Clinodactyly OMIM:619091
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, High, narrow palate, Hand oligoda... ORPHA:2879
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Trisomy 18
Anal atresia, Narrow palate, Atrial septal defect, Microretrognathia, Cleft palate, Abnormal hip ... ORPHA:3380
Microcephaly, Autosomal Dominant
Broad hallux, Broad thumb, Hypotelorism OMIM:156580
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal tracheobronchial morphology, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal h... OMIM:218450
Harrod Syndrome
High palate, Dental malocclusion, Hypotelorism, High, narrow palate, Arachnodactyly, Hypospadias,... OMIM:601095
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
High palate, Hypotelorism, Atrial septal defect, Gastroesophageal reflux, Prominent fingertip pad... OMIM:300986
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Hypotelorism, Supernumerary tooth, Narrow palate, Micrognathia,... OMIM:264475
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Deeply... OMIM:600987
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Deeply set eye, Talipes equinovarus, Hypotelorism, Malar fla... OMIM:602471
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Malar flattening, Short phalanx of finger, Tapered finger, Long ... OMIM:613458
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Coronal hypospadi... OMIM:619859
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Hypotelorism, Atrial septal defect, Cleft palate, Postaxial polydactyly, Small hand... OMIM:300968
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Hartsfield Syndrome
Cleft palate, Encephalocele, Aplasia/Hypoplasia of the radius, Split hand, Hypertelorism, Lobar h... ORPHA:2117
Oculodentodigital Dysplasia
Cleft palate, Carious teeth, Ventricular septal defect, Mandibular prognathia, Abnormal metaphysi... ORPHA:2710
Faciocardiomelic Syndrome
Dental malocclusion, Micrognathia, Hyperplasia of the maxilla, Polydactyly, Slender long bone, Hy... OMIM:612731
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Pentasomy X
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Small hand, Micrognathia, Cam... ORPHA:11
Vissers-Bodmer Syndrome
Tapered finger, Holoprosencephaly OMIM:619033
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Hematuria, Furrowed tongue, Anorectal anomaly, Pulmonary fibrosis, Rec... ORPHA:1839
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Ventricular septal defect, Hypop... OMIM:214800
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Deeply set eye, Hypoplastic left heart, Atrioven... ORPHA:251071
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... OMIM:300963
Infantile Myofibromatosis
Tracheoesophageal fistula, Neoplasm of the lung, Intestinal obstruction, Abnormal metaphysis morp... ORPHA:2591
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... OMIM:610140
2Q23.1 Microduplication Syndrome
Clinodactyly of the 5th finger, Hypotelorism, Gastroesophageal reflux, Abnormality of the hand, B... ORPHA:313947
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... ORPHA:261243
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Li-Campeau Syndrome
Atrial septal defect, Hypertelorism, Micropenis, Ventricular septal defect, Single transverse pal... OMIM:619189
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Syndactyly, Type B brachydactyly, ... OMIM:113000
Congenital Hypothyroidism
Nephrolithiasis, Sinusitis, Macroglossia, Abnormal pericardium morphology, Tracheoesophageal fist... ORPHA:442
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Talipes equinovarus, Cleft palate, Holoprosencephaly, Pulmonary hyp... ORPHA:250999
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Abnormality of the ureter, Anenc... OMIM:249000
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Absent thumb, Bilateral talipes equinovarus, Hypoplastic sacrum, Mic... OMIM:614083
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Hypoplastic left heart, Cleft... OMIM:301022
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Hypotelorism, 3-4 finger cutaneous syndactyly, Micrognathia, Hyposp... OMIM:164220
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Micromelia, Finger clinodactyly, Ventr... ORPHA:508488
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
8P23.1 Duplication Syndrome
Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis... ORPHA:251076
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypotelorism, Hypoplastic vertebr... ORPHA:2163
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Cyclopia, Mandibular aplasia, Mic... ORPHA:990
Mend Syndrome
High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Microretr... OMIM:300960
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Hypertelori... ORPHA:3304
Non-Distal Trisomy 13Q
High palate, Hypotelorism, Arachnodactyly, Micrognathia, Postaxial hand polydactyly ORPHA:1702
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Malar flattening, Congenital hip dislocation, Patent ductus arteriosus, Pat... OMIM:601450
Jacobsen Syndrome
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Holoprosencephaly, Micrognat... OMIM:147791
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Hydrocephalus, Deeply set eye, Hypotelorism, Gastroesophageal reflux, Malar flatteni... OMIM:612940
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... ORPHA:138
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Holoprosenc... ORPHA:1052
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Cleft palate, Micromelia, Ventricular septal defect, Hammertoe, Pyloric stenosis, ... OMIM:270400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypotelorism, Micrognathia, Down-sloping shoulders, Renal hypoplasia, Prominent superficial veins OMIM:616817
Feingold Syndrome 1
High palate, Short toe, 2-3 toe syndactyly, Duodenal atresia, Micrognathia, Tracheoesophageal fis... OMIM:164280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus, Tetralogy ... ORPHA:3186
Shashi-Pena Syndrome
Atrial septal defect, Retrognathia, Deep palmar crease, Proptosis, Hypertelorism OMIM:617190
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pat... OMIM:601005
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Hypotelorism, Malar flattening, Cleft palate, Palmoplantar cutis laxa, Spina bifi... OMIM:268850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Syndactyly, Polydactyly, Ventricular septal defect, Hypertelorism OMIM:602501
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Hypotelorism, Slender finger OMIM:613192
16P13.11 Microdeletion Syndrome
Atrial septal defect, Talipes equinovarus, Cleft palate, Holoprosencephaly, Gastroesophageal refl... ORPHA:261236
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Retrognathia, Microgn... ORPHA:3412
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phal... ORPHA:2256
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Distal urethral duplication, Cleft palate, Atrioventricular canal defect, Short man... ORPHA:2549
Grange Syndrome
Syndactyly, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus, Short palm ORPHA:79094
Developmental And Epileptic Encephalopathy 87
Single transverse palmar crease, Hypertelorism, Hypotelorism, High palate OMIM:618916
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Holoprosencephaly 11
Proptosis, Hypotelorism, Cleft palate, Holoprosencephaly OMIM:614226
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Polydactyly OMIM:615987
Penile Agenesis
Anal atresia, Urethral atresia, male, Atrial septal defect, Rectal fistula, Urethral fistula, Bil... ORPHA:49
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney, Polydactyly, Camptodactyly OMIM:614815
Holoprosencephaly
Hydrocephalus, Ventricular septal defect, Median cleft lip and palate, Proteinuria, Encephalocele... ORPHA:2162
Chromosome 6Q11-Q14 Deletion Syndrome
Single transverse palmar crease, Hypertelorism, Hypotelorism, High palate OMIM:613544
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, Hypospa... OMIM:175700
Suleiman-El-Hattab Syndrome
High palate, Atrial septal defect, Microretrognathia, Brachydactyly, Polydactyly, Ventricular sep... OMIM:618950
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Acrocraniofacial Dysostosis
Hypotelorism, Cleft palate, Short 1st metacarpal, Micrognathia, Proptosis, Metatarsus adductus, N... OMIM:201050
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism, Aminoaciduria, Pulmonary hemorrhage, Proteinuria, Clinodactyly OMIM:603585
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Short ribs, Micropenis, Micrognathia, Micromelia, Postaxial hand pol... OMIM:241800
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Prader-Willi Syndrome Due To Translocation
High palate, Cleft palate, Clinodactyly of the 4th finger, Carious teeth, Proptosis, Abnormal hea... ORPHA:177907
Mcdonough Syndrome
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... OMIM:248950
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
3P25.3 Microdeletion Syndrome
Overlapping toe, Atrial septal defect, High, narrow palate, Cleft palate, Postaxial polydactyly, ... ORPHA:435638
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Syndactyly, Brachydactyly, Finger clinodactyly, ... OMIM:602531
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy, Hypertelorism OMIM:300887
Orofaciodigital Syndrome Xiv
Atrial septal defect, Microretrognathia, Supernumerary tooth, Postaxial polydactyly, Preaxial pol... OMIM:615948
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Hypotelorism, Single transverse palmar crease, Renal hypoplasia, Hypertro... OMIM:619053
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Hypotelorism, Congenital hip dislocation, Limited elbow extension, Incisor m... OMIM:619719
Rhizomelic Limb Shortening With Dysmorphic Features
Prominent fingertip pads, Hyperextensibility of the finger joints, Clinodactyly of the 3rd finger... OMIM:618821
Koolen-De Vries Syndrome
High palate, Bicuspid aortic valve, Hypotelorism, Atrial septal defect, Slender finger, Prominent... OMIM:610443
Ritscher-Schinzel Syndrome 4
High palate, Ulnar deviation of the hand, Deeply set eye, Hypotelorism, Narrow palate, Micropenis... OMIM:619435
Chromosome 13Q14 Deletion Syndrome
High palate, Overlapping toe, Clinodactyly of the 5th finger, Hypotelorism, Holoprosencephaly, Mi... OMIM:613884
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Deeply set eye, Atrial septal defect, Hypotelorism, Cleft palate, Gastroesophageal reflux, Small ... OMIM:301044
Lowry-Maclean Syndrome
Hydrocephalus, High, narrow palate, Cleft palate, Atrioventricular canal defect, Retrognathia, Mi... ORPHA:2409
Galloway-Mowat Syndrome
Hypotelorism, Hiatus hernia, Aqueductal stenosis, Nephrotic syndrome, Adducted thumb, Micrognathi... ORPHA:2065
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acrocardiofacial Syndrome
Mitral stenosis, Anal atresia, Atrial septal defect, Finger syndactyly, Cleft palate, Split foot,... ORPHA:2008
Orofaciodigital Syndrome Vi
High palate, Mesoaxial hand polydactyly, Cleft palate, Postaxial polydactyly, Micrognathia, Brach... OMIM:277170
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Overlapping toe, Anal atresia, Gastroesophageal reflux, Postaxial polydactyly, Atrio... OMIM:613792
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Microform Holoprosencephaly
Duodenal atresia, Hypotelorism, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Tetralogy o... ORPHA:280200
Pallister-Hall Syndrome
Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Polydactyly affecting the... ORPHA:672
Monosomy 18P
Cleft palate, Holoprosencephaly, Micrognathia, Brachydactyly, Carious teeth ORPHA:1598
Kennerknecht syndrome
High palate, Malrotation of colon, Deeply set eye, Toe clinodactyly, Hypotelorism, Acetabular dys... OMIM:600908
Adams-Oliver Syndrome 6
Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot ol... OMIM:616589
Trisomy 18P
Abnormality of finger, Hypotelorism, High, narrow palate, Micrognathia, Pyloric stenosis ORPHA:1715
Abruzzo-Erickson Syndrome
Short toe, Atrial septal defect, Malar flattening, Cleft palate, Hypospadias, Coronal hypospadias... ORPHA:921
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Joint contra... OMIM:179613
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Talipes equinovarus, Slender finger, Atrial septal defect, Long fingers, P... OMIM:613355
Trigonocephaly 1
Hypotelorism, Meckel diverticulum, Long penis OMIM:190440
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... OMIM:300484
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Abnormal hip bone morphology, Micrognathia, Multiple renal cysts, Tetralogy of Fall... ORPHA:1166
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... OMIM:201000
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Talipes equinovarus, Intestinal atr... ORPHA:2970
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Ventricular septal defect, Renal cyst, Duplication of phalanx o... OMIM:263630
Vici Syndrome
High palate, Hypotelorism, Renal tubular acidosis, Hypertelorism, Ureteral atresia, Cardiomyopath... ORPHA:1493
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypotelorism, Slender finger, Micrognathia, Down-sloping shoulders, Deviation of the 5th toe, Sle... ORPHA:391408
Intellectual Developmental Disorder, Autosomal Recessive 5
4-5 toe syndactyly, Hypertelorism, Hypotelorism OMIM:611091
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Tarp Syndrome
High palate, Talipes equinovarus, Short sternum, Cleft palate, Postaxial polydactyly, Hypoplasia ... OMIM:311900
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... OMIM:613684
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... ORPHA:1027
Mosaic Trisomy 16
Single coronary artery origin, Atrial septal defect, Meckel diverticulum, Craniofacial asymmetry,... ORPHA:1708
Chromosome 5P13 Duplication Syndrome
High palate, Hypotelorism, Long fingers, Large hands, Proptosis, Hypertelorism OMIM:613174
Lymphedema, Primary, With Myelodysplasia
Hypotelorism, Long fingers, Tapered finger OMIM:614038
Holt-Oram Syndrome
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... OMIM:142900
Intellectual Developmental Disorder, Autosomal Dominant 7
Micrognathia, Hallux valgus, Deeply set eye, Hypotelorism OMIM:614104
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... ORPHA:380
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Hypertelorism, Gastroesophageal reflux, Malar flattening, Tracheomalacia, R... OMIM:613177
Intellectual Developmental Disorder, Autosomal Dominant 53
Duodenal atresia, Hypotelorism, Short femur, Intestinal malrotation, Micropenis, Ventricular sept... OMIM:617798
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Abnormal diaphysis morphology, Atrial sep... ORPHA:1842
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Cleft palate, Coarctation of aorta, Single transverse palmar crease, Patent... OMIM:615502
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism, Cleft palate, Micropenis, Unilateral renal agenesis, Finger joint hypermobility OMIM:244200
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Hypotelorism OMIM:615042
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... OMIM:274000
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Slender finger, High, narrow palate, Micropenis, Abnormal trac... ORPHA:2872
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency, Deviation of finger ORPHA:903
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Abnormal tracheal morphology, Micrognathia, Ureteral... ORPHA:2257
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Syndactyly, Camptodactyly, Pericardial lymphangiectasia, Intestinal l... OMIM:616006
Loeys-Dietz Syndrome 2
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Proptosis, Aortic root aneurysm, Spontane... OMIM:610168
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal de... OMIM:249630
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:3268
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Williams Syndrome
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Tracheoesophageal... ORPHA:904
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Atrial septal defect, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bif... ORPHA:2001
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Deeply set eye, Atrial septal defect, Arachnodactyly, Intestinal malro... OMIM:617602
Multiple Pterygium-Malignant Hyperthermia Syndrome
Hypotelorism, Talipes equinovarus, Cleft palate, Arachnodactyly, Prominence of the zygomatic bone... ORPHA:2215
Anaplastic Thyroid Carcinoma
Dysphagia, Tracheoesophageal fistula, Neoplasm of the lung, Laryngotracheal stenosis ORPHA:142
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... ORPHA:90652
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Atrial septal defect, Joint contracture of the hand, Retrognathia, Micr... ORPHA:352490
Meckel Syndrome, Type 3
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... OMIM:607361
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defec... OMIM:614262
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Duodenal atresia, Clinodactyly of the 5th finger, Deeply set eye, Hypotelorism, Gast... OMIM:616975
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Encephalocele, Talipes equinovarus, Polydactyly OMIM:613885
Craniosynostosis 2
Hypotelorism, Supernumerary tooth, Brachydactyly, Triphalangeal thumb, Cleft soft palate OMIM:604757
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... ORPHA:40366
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial o... OMIM:608571
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Harrod Syndrome
High palate, Dental malocclusion, Hypotelorism, Arachnodactyly, Hypospadias, Multicystic kidney d... ORPHA:2115
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly, High, narrow palate, Micropenis, Hypertelorism OMIM:615433
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Chromosome 17Q12 Duplication Syndrome
Deeply set eye, Atrial septal defect, Micrognathia, Brachydactyly, Broad thumb, Esophageal atresi... OMIM:614526
Thanatophoric Dysplasia
Hydrocephalus, Atrial septal defect, Micromelia, Brachydactyly, Abnormal ilium morphology, Propto... ORPHA:2655
Degcags Syndrome
High palate, Hiatus hernia, Abnormal renal medulla morphology, Ventricular septal defect, Pyloric... OMIM:619488
Toxic Epidermal Necrolysis
Dysuria, Malabsorption, Tracheoesophageal fistula, Abnormality of the urethra, Abnormal pleura mo... ORPHA:537
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Micromelia, Brachy... OMIM:617895
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Peripheral pulmonary artery stenosis, Abnormality of finger, Atrial septal defec... ORPHA:436003
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... ORPHA:521308
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Dental malocclusion, Deeply set eye, Atrial septal defect, Anal atresia, Velopha... ORPHA:363444
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Absence o... ORPHA:3169
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal... OMIM:619512
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... OMIM:615994
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Micrognathia, Hypospadias, Ventricular septal defect... OMIM:231060
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Anal atresia, Micro... OMIM:115470
Giacheti Syndrome
Hypotelorism OMIM:612917
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Mosaic Trisomy 1
Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, Single trans... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypotelorism, Talipes equinovarus, Adducted thumb, Congenital hip dislocation, Hypertelorism OMIM:219150
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Alobar holoprosencephaly, Hypoplastic left heart... OMIM:301043
Apert Syndrome
Hydrocephalus, Cleft palate, Cutaneous syndactyly, Shallow orbits, Delayed eruption of teeth, Rhi... OMIM:101200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Micrognathia, Hypospadias, Bilateral single transverse palmar ... ORPHA:1913
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypotelorism, Adducted thumb, Bifid uvula, Single transverse palmar crease, Rocker bottom foot, M... OMIM:618622
Burn-Mckeown Syndrome
2-3 toe syndactyly, Atrial septal defect, Cleft palate, Unilateral renal agenesis, Micrognathia, ... OMIM:608572
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Loeys-Dietz Syndrome 1
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Proptosis, Aortic root aneurysm, Talipes ... OMIM:609192
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
16P11.2P12.2 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Microretrognathia, Gastroesophageal reflux, Camptodactyly of finger... ORPHA:261211
Seckel Syndrome 7
Hypotelorism, Clinodactyly, Madelung deformity, Hip dysplasia, Abnormal carpal morphology OMIM:614851
Treacher-Collins Syndrome
High palate, Hypoplasia of penis, Malar flattening, Encephalocele, Retrognathia, Micrognathia, Cl... ORPHA:861
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinoda... OMIM:300049
Meckel Syndrome, Type 2
Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, Ence... OMIM:603194
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Atrial septal defect, Arachnodactyly, Abnormality of the ureter, Micromelia, Genu va... ORPHA:1035
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect,... OMIM:619149
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Cleft palate, Camptodact... OMIM:300244
Silver-Russell Syndrome 3
Retrognathia, Hypospadias, Syndactyly, Finger clinodactyly, Patent ductus arteriosus OMIM:616489
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
20P12.3 Microdeletion Syndrome
Atrial septal defect, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxi... ORPHA:261295
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Sh... OMIM:617866
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Hypoplastic left hea... OMIM:619721
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Talipes equinovarus, Hypoplastic left heart... OMIM:618845
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the ureter, Micromelia, Delayed eruption of teeth, ... ORPHA:289
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal cardiac septum morphology, Hypertelorism, Cleft palate, Tracheomalacia, Micrognathia, Hy... OMIM:217980
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... ORPHA:2473
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Atrial septal defect, Arachnodactyly, Retrognathia, Micrognathia, Cam... ORPHA:314588
Phaver Syndrome
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Radioulnar... ORPHA:2876
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Monosomy 5P
High palate, Microretrognathia, Small hand, Hypertelorism, Finger syndactyly ORPHA:281
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Postaxial hand polydactyly, Dilated cardiomyopathy, ... OMIM:615981
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hydrou... ORPHA:2973
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Microretrognathia, Adducted thumb, Patent foramen ovale, Rocker bottom foot... ORPHA:89844
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Bladder diverticulum, Bicuspid aortic valve, Hypotelorism, Talipes equinovarus, Subd... ORPHA:536545
Kabuki Syndrome 2
High palate, Dental malocclusion, Atrial septal defect, Prominent fingertip pads, Atrioventricula... OMIM:300867
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the max... OMIM:252100
Emanuel Syndrome
High palate, Anal atresia, Deeply set eye, Atrial septal defect, Aortic valve stenosis, Cleft pal... OMIM:609029
Steinfeld Syndrome
Holoprosencephaly, Hypoplasia of the radius, Bifid uvula, Hypoplasia of the ulna, Phocomelia, Med... OMIM:184705
Filippi Syndrome
Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect, Single transverse palmar cr... OMIM:272440
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Bilateral single... ORPHA:2516
Cranioectodermal Dysplasia 1
High palate, Single transverse palmar crease, Rhizomelia, Stage 5 chronic kidney disease, Short d... OMIM:218330
Weaver Syndrome
Talipes equinovarus, Hypoplasia of penis, Retrognathia, Micrognathia, Camptodactyly of finger, La... ORPHA:3447
Renal Agenesis, Bilateral
Cleft palate, Tracheoesophageal fistula, Sirenomelia, Pulmonary hypoplasia, Abnormal intestine mo... ORPHA:1848
Tarp Syndrome
Short sternum, Cleft palate, Single transverse palmar crease, Tongue nodules, Pulmonary hypoplasi... ORPHA:2886
Craniosynostosis, Herrmann-Opitz Type
Hypertelorism, Malar flattening, Cleft palate, Micrognathia, Abnormality of the urethra, Brachyda... ORPHA:2145
Non-Syndromic Metopic Craniosynostosis
Hypotelorism ORPHA:3366
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb ORPHA:2182
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia ORPHA:93946
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Retrognathia, Unilateral renal agenes... OMIM:614576
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Hypotelorism, Micropenis, Unilateral renal agenesis, Limb undergrowth, Dilated ca... OMIM:616541
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Shor... ORPHA:1505
Charlie M Syndrome
Micrognathia, Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Hyp... ORPHA:1406
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... ORPHA:166024
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Atrial septal defect OMIM:608227
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Hypotelorism OMIM:618500
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognathia, Brachydac... OMIM:600325
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th... ORPHA:2712
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Atrial septal defect, Microretrognathia, Finger joint hypermobility, Monkey w... OMIM:618870
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... ORPHA:2751
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Talipes equinovarus, Hypospadias, Ab... ORPHA:261311
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Atrioventricular canal defect, Short 1st metac... OMIM:619135
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Coffin-Siris Syndrome 1
High palate, Short sternum, Prominent fingertip pads, Cleft palate, Delayed eruption of teeth, Ve... OMIM:135900
Buratti-Harel Syndrome
High palate, Clinodactyly of the 5th finger, Atrial septal defect, Velopharyngeal insufficiency, ... OMIM:619314
Thanatophoric Dysplasia Type 1
Hydrocephalus, Atrial septal defect, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, B... ORPHA:1860
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Char Syndrome
No permanent dentition, Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Persistence o... ORPHA:46627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... OMIM:253800
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
Noonan Syndrome 2
Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... OMIM:605275
Megalencephaly
Genu valgum, Deeply set eye, Atrial septal defect, Long penis ORPHA:2477
Halperin-Birk Syndrome
High palate, Talipes equinovarus, Gastroesophageal reflux, Pseudobulbar paralysis, Micrognathia, ... OMIM:618651
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral d... OMIM:617516
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Micropenis, Tapered finger, Ventricular septal defect, Patent ductus arteri... OMIM:613870
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly, Cardiomegaly OMIM:613576
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Patent ductus arterio... OMIM:608406
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Dyskeratosis Congenita
Malabsorption, Taurodontia, Tracheoesophageal fistula, Carious teeth, Hypoplasia of the maxilla, ... ORPHA:1775
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, 2-3 toe syndactyly, Secundum atrial septal defect, Micropenis, 3-4 finger cutaneou... OMIM:619951
White Forelock With Malformations
Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Hypertelorism, Finger... ORPHA:2475
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Moebius Syndrome
High palate, Talipes equinovarus, Micropenis, Micrognathia, Brachydactyly, Short phalanx of finge... OMIM:157900
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... OMIM:614175
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... OMIM:236500
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth,... OMIM:619148
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Hypotelorism, Narrow palate, Cleft palate, Proximal radio-ulnar s... ORPHA:794
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
High palate, Hydrocephalus, Hypotelorism, Atrial septal defect, Sinusitis, Pulmonic stenosis, Mic... ORPHA:363700
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect, Short foot, Vesicourete... ORPHA:228399
Pfeiffer Syndrome
High palate, Hydrocephalus, Elbow ankylosis, Bronchomalacia, Shallow orbits, Tracheal cartilagino... OMIM:101600
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... ORPHA:376
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly, Ventricular septal defect, Vascular dilatation, Renal insuf... OMIM:219730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, Vascular ring OMIM:603387
Bardet-Biedl Syndrome 19