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Gene: Kif7 MGI:1098239

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 7
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kif7 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 predicted to be associated to Kif7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Acropectoral Syndrome
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... OMIM:605967
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Acropectoral Syndrome
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal... ORPHA:3434
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Polydactyly, Talipes equin... OMIM:613885
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hy... OMIM:615524
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus, Microphthalmia,... ORPHA:141333
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin... OMIM:617927
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Cryptorchidism, Single transverse palmar crease, Thin uppe... ORPHA:3304
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Transposition of the great arterie... OMIM:231060
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Interrupted inferi... OMIM:206920
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte... ORPHA:401935
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Cryptorchidism, Orofacial ... ORPHA:85287
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Clinodactyly ... ORPHA:250989
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Broad ... OMIM:600987
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... ORPHA:1908
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia ORPHA:2140
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:609813
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Ext... OMIM:615996
Orofaciodigital Syndrome Xvii
High, narrow palate, Ventriculomegaly, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Heart And Brain Malformation Syndrome
High, narrow palate, Interrupted aortic arch, Hand clenching, Cleft lip, Thick lower lip vermilio... OMIM:616920
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Frontal encephalocele ORPHA:261102
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Microphthalmia OMIM:613094
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Ventricular septal defect, Hand polydactyly, Atrial septal defect, E... OMIM:249670
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Complete atr... OMIM:264480
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Seckel Syndrome 9
Pulmonary artery hypoplasia, Clitoral hypertrophy, Ventriculomegaly, Ventricular septal defect, T... OMIM:616777
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m... ORPHA:1919
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Spina bi... ORPHA:64755
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p... ORPHA:3378
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, F... OMIM:617194
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Cryptorchidism, Submucous cleft ha... ORPHA:2189
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicorn... OMIM:600776
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... OMIM:618316
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:220210
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia OMIM:601163
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Ventriculomegaly, Downturned corners... OMIM:179613
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang... OMIM:251255
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal... OMIM:614815
Trisomy 1Q
Small scrotum, Ventriculomegaly, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of fing... ORPHA:261344
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly OMIM:611638
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Ventricular septal d... ORPHA:1692
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Hydrocephal... OMIM:313850
Lethal Congenital Contracture Syndrome 10
Long philtrum, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Tali... OMIM:617022
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Abnormally large globe, Ventricular septal defect, Postaxial polydactyly, Atria... OMIM:603387
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate OMIM:600251
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Ventricular septal def... OMIM:601357
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Recurrent respiratory infections, Hamartoma ... OMIM:174300
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft, Microphthalmia, Widely-spaced maxil... OMIM:601349
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventr... OMIM:309801
Pallister-Hall-Like Syndrome
Microglossia, Postaxial foot polydactyly, Toe syndactyly, Micromelia, Occipital encephalocele, Me... OMIM:241800
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Ventri... ORPHA:1166
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca... OMIM:619142
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Orbital encephalocele, Dandy-Walker mal... OMIM:164180
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo... OMIM:620025
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal ... ORPHA:1120
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, C... OMIM:612530
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short tibia, Polydactyly, Median cleft upper lip, High palate, Cl... OMIM:300484
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v... ORPHA:228190
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polydactyly, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Microph... OMIM:602501
Autosomal Recessive Amelia
Small scrotum, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Aplasia/Hypoplasia ... ORPHA:1027
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Pat... ORPHA:2712
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal... OMIM:600460
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Broad thumb, Ventriculomegaly, Recurrent respirator... OMIM:300209
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral v... OMIM:612561
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, O... ORPHA:3186
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly OMIM:615983
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Dilated fourth ventricle, Anenc... OMIM:614175
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... OMIM:609052
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, V... ORPHA:2876
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Microphthalmia, Flat acetabular roof, An... OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Pulmon... OMIM:614096
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Hydr... OMIM:601927
Joubert Syndrome 14
Tented upper lip vermilion, Open mouth, Intracranial hemorrhage, Ventricular septal defect, Posta... OMIM:614424
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Intracranial h... ORPHA:163979
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Tetralogy Of Fallot
Tetralogy of Fallot, Cryptorchidism, Brachydactyly, Thin vermilion border, Clinodactyly of the 5t... ORPHA:3303
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Hypoplastic ... OMIM:277170
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Bowing of the long bones, Atrial septal defect, Hydroce... OMIM:611134
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal mitral valve ... ORPHA:1354
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul... ORPHA:261120
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Cryptorchidism, Ventricular septal ... OMIM:616145
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Cryptorchidism, Talipes equinovarus, Hydrocephalus, Hip dysplasia, Hypospadi... ORPHA:250994
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Ulnar bowing, Short ribs, M... OMIM:617866
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Dandy-Walker malformation, Postaxial hand polydactyly ORPHA:1566
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Catel-Manzke Syndrome
Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial d... ORPHA:1388
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Cryptorchidism, Talipes eq... OMIM:612651
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Omphalocele, Anencephaly ORPHA:63862
Cerebrooculonasal Syndrome
Tessier cleft, Hypoplasia of penis, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia... ORPHA:66625
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate OMIM:616570
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Long philtrum, Ventricular septal defect, Pos... OMIM:617895
Acalvaria
Abnormal lung lobation, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephal... ORPHA:945
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal morpholo... ORPHA:991
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Truncus arterio... OMIM:617478
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Abnormal sternum morphology, Short ribs, Supernum... OMIM:109400
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect OMIM:300887
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Micropenis, Atrial septal d... OMIM:618280
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Cryptorchidism, Ventricular septal defect, Thin upper lip ve... OMIM:300712
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology,... ORPHA:244
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Knee flexion contractur... OMIM:616531
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Posta... ORPHA:83473
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Exencephaly, Preaxial polydactyly OMIM:614464
Fryns Syndrome
Cryptorchidism, Microphthalmia, Anal atresia, High palate, Hypospadias, Duodenal atresia, Non-mid... ORPHA:2059
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Abnorma... ORPHA:1926
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o... ORPHA:401942
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Abnormal palate morphology, Aortic aneurysm, Brachydactyly,... ORPHA:1777
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... ORPHA:391646
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Exte... ORPHA:65759
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Cryptorchidism, Atrial se... OMIM:175700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Lobar holoprosencephaly, Microphthal... ORPHA:2117
Triploidy
Hypospadias, Finger syndactyly, Intestinal malrotation, Narrow mouth, Cryptorchidism, Aplasia/Hyp... ORPHA:3376
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Situs inversus totalis, Hypogonadism OMIM:615985
Adams-Oliver Syndrome
Short distal phalanx of finger, Arteriovenous malformation, Finger syndactyly, Tetralogy of Fallo... ORPHA:974
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion bo... ORPHA:251076
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Narrow mouth, Triphalangeal thumb, Abnormal metacarpal morphol... ORPHA:1406
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Uterus didelphys, Preaxial polydactyly, Hamartoma of tongue,... OMIM:617925
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Pulmonary hypoplasia, Ventriculomegaly, Micromelia, Preaxial polydactyly, Hama... OMIM:616546
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Ventriculomegaly, Long philtrum, Cleft upper lip, Cryptorchidism, Thin upp... OMIM:243310
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
Meckel Syndrome 14
Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bon... OMIM:619879
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect ORPHA:2143
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Missing ribs, Short thorax, Spina bifida occulta, Posterior rib fusion ORPHA:1797
Recombinant 8 Syndrome
Abnormality of the dentition, Small scrotum, Downturned corners of mouth, Cleft upper lip, Campto... ORPHA:96167
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial... OMIM:614120
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... ORPHA:3097
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, Omphalocele, ... OMIM:263210
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Sandal gap, Ventricular septal def... ORPHA:2515
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Overlapping toe, Crypt... OMIM:613792
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... OMIM:615982
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long philtrum, Sand... OMIM:615761
Feingold Syndrome Type 1
Interrupted aortic arch, Toe syndactyly, Short thumb, Duodenal atresia, Abnormal heart morphology... ORPHA:391641
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Bilate... OMIM:607597
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Orofac... ORPHA:2549
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Kyphomelic Dysplasia
Narrow chest, Micromelia, Short thorax, Undulate ribs, Missing ribs, Bowing of the long bones, An... ORPHA:1801
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular dilat... OMIM:219730
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Broad thumb, Thick lower lip vermilion, Camptodactyly of finger, ... ORPHA:3080
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Short uvul... OMIM:614091
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Maternal Hyperthermia-Induced Birth Defects
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:2216
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Imperforate hymen, Toe syndactyly, Ventriculomegal... OMIM:100300
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Umbilical hernia, Rib segmentation abno... ORPHA:2311
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger, High ... ORPHA:376
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, High... ORPHA:139471
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal dental morpholo... OMIM:612582
Cerebrooculonasal Syndrome
Narrow palate, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Anophthalmia, Enceph... OMIM:605627
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Large placenta, C... OMIM:249000
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Ventricular sept... OMIM:619717
Pierpont Syndrome
Ventriculomegaly, Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Excessi... ORPHA:487825
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Diaphragmatic eventration, Generalized amyotrophy... OMIM:616866
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Dextrocardia, Spina bifida, Spina bifida occulta, Posterolateral... ORPHA:2437
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Ventriculomegaly, Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ve... OMIM:301056
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Dandy-Walker malfor... OMIM:603194
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Genu valgum, Cryptorchidism, Abnormal palate morphology, Anal atresia, Aplas... ORPHA:1381
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft... OMIM:225500
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Kondoh Syndrome
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Long philtrum, Preaxial ha... OMIM:606242
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi... ORPHA:261272
Gorlin Syndrome
Palmar pits, Arachnodactyly, Rib fusion, Brachydactyly, Anterior rib cupping, Abnormal rib morpho... ORPHA:377
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Cerebrofaciothoracic Dysplasia
Narrow chest, Rib fusion, Sprengel anomaly, Bifid ribs, Polyhydramnios ORPHA:1394
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Aarskog-Scott Syndrome
Abnormality of the dentition, Small hand, Delayed eruption of teeth, Long philtrum, Cleft upper l... ORPHA:915
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Abnormal internal genitalia... OMIM:612284
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph... ORPHA:93267
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal de... ORPHA:1488
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Abnormal cardiac septum morphology, Ventricular septal de... ORPHA:1937
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Cryptorchidism, Ventricular septal defect, Micropenis, Patent ductus a... OMIM:616894
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:300978
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Abnormally large globe, Downturned corners of mouth, Cleft upper ... OMIM:239300
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... OMIM:300166
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachn... OMIM:619721
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Tented upp... OMIM:619143
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermil... OMIM:616652
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Anophthalmia, Microphthalmia, Aqueductal... ORPHA:138
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Cleft upper lip, Abnormal heart morphology, Narrow mouth, 2-3 to... OMIM:239800
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Abnormal he... OMIM:618494
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Hydrocephalus, Dandy-... OMIM:147800
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, Ventricular septal defect, 2-3 toe syndactyly, Atrial... OMIM:608572
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, C... OMIM:601355
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Median cleft palate, Microphthalmia ORPHA:2432
Sonoda Syndrome
Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Charge Syndrome
Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, Overriding ao... OMIM:214800
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Abnormal metacarpal morphology, A... ORPHA:2538
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Irregular dentition, Cryptorchidism, Encephalocele, Talipes equinova... OMIM:619148
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... OMIM:119580
Houge-Janssens Syndrome 2
Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Tented upper lip vermilion, Open mou... OMIM:616362
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Al... OMIM:612938
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Clinodactyly of ... OMIM:620113
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Bell-shaped thorax, Missing ribs, Rib fusion, Spina bifida occulta, Hydrocephal... OMIM:613686
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect... OMIM:601808
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Finger clinodactyly, Preaxial polydactyly, Hamartoma of to... ORPHA:2754
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Apl... ORPHA:1794
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, ... OMIM:311900
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Abnormal palate morphology, Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth ORPHA:544254
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion, Death in infancy OMIM:277300
Genitopalatocardiac Syndrome
Downturned corners of mouth, Cryptorchidism, Male pseudohermaphroditism, Brachydactyly, Abnormal ... ORPHA:2075
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand ... OMIM:217100
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal d... OMIM:618652
Spondylocostal Dysostosis 5
Missing ribs, Pectus carinatum, Supernumerary ribs, Posterior rib fusion OMIM:122600
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Submucous clef... ORPHA:3426
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Pneumot... ORPHA:2257
Meacham Syndrome
Hypoplastic left heart, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Tetralogy ... OMIM:608978
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Mitral valve prolapse, Cubitus valgus, Short 4th metacarpal, Hy... ORPHA:2183
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Camptodactyly of finger, Abnormal lung lobation ORPHA:2631
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Persistence of primary t... ORPHA:46627
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Cryptorchi... OMIM:201000
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia, Median... OMIM:258865
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Holoprosencephaly
Anophthalmia, Cryptorchidism, Ventricular septal defect, Encephalocele, Aplasia/Hypoplasia of the... ORPHA:2162
Feingold Syndrome 1
Interrupted aortic arch, Tricuspid stenosis, Short toe, Short thumb, Duodenal atresia, Short midd... OMIM:164280
Pierpont Syndrome
Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Microphthalmia, Prominent... OMIM:602342
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Tetrasomy 15Q26
Hypoplastic aortic arch, Arachnodactyly, Atrial septal defect, Hydrocephalus, Camptodactyly, High... OMIM:614846
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Dental crowding, Finger syndactyly, Branchial cyst, Cryptorchidism, Single transverse palmar crea... ORPHA:435938
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly ORPHA:79094
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Short ribs, Stillbirth, Polyhydramn... OMIM:600972
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy, Pulmo... OMIM:253310
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth, Edema, Pedal edema OMIM:152800
Juberg-Hayward Syndrome
Cleft upper lip, Anteriorly placed anus, Limited elbow extension, Aplasia/Hypoplasia of the thumb... OMIM:216100
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix OMIM:618955
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of... ORPHA:83468
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, V... OMIM:256520
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:250999
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Recurrent re... OMIM:618950
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidism, Abnormal p... ORPHA:2701
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends ORPHA:168555
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypospadias, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopath... ORPHA:251071
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... ORPHA:7
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Abnormal lung ... ORPHA:2063
Bardet-Biedl Syndrome 16
Bronchiolitis, Hypogonadism, External genital hypoplasia, Polydactyly, Recurrent respiratory infe... OMIM:615993
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Abnormal heart morphology, Tetralogy of Fall... ORPHA:2209
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Increased CSF lactate, Patent foramen ovale... ORPHA:17
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Cryptorch... OMIM:272440
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Gonadal dysgenesis, Umbilical hernia, Bilateral single transverse palmar creases, Ve... ORPHA:1770
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... ORPHA:93351
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal cerebral vascular morphology, Radial club hand, Median cleft upper lip, Abnormal morphol... ORPHA:2165
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Dandy-Walker malformation, Encephalocele, Cleft palate ORPHA:217
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Abnormal aortic morp... ORPHA:2516
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Cryptorchid... ORPHA:3429
Trisomy 4P
Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptod... ORPHA:1738
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Everte... ORPHA:75389
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Flatt... OMIM:607131
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Incr... ORPHA:171430
Coffin-Siris Syndrome 3
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, Central diaphragmatic... OMIM:614608
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Small hand, Hip dislocation, Ventriculomegaly, Long ph... OMIM:300968
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Polyhydramnios, Prenatal death, Neonatal death, Camptodactyly, Rocker bottom foot OMIM:618393
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Optic disc hypoplasia, Duodenal atresia... OMIM:300514
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
16P13.11 Microdeletion Syndrome
Ventriculomegaly, Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid'... ORPHA:261236
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Ventricular septal d... OMIM:154400
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Open mouth, Abnormal oral cavity morphology, Hydrocephalus, Clinodactyly of the... ORPHA:1516
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Overlapping toe, Polyhydramnios, Rib fusion, Talipes equinovarus, Sprengel anomaly,... OMIM:213980
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial... OMIM:618974
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t... OMIM:311200
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Ventriculomegaly, Ventricular septal defect, Postaxial polyd... OMIM:614576
Chromosome 1P36 Deletion Syndrome, Proximal
Cleft lip, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Brachydactyly, Short long bone, Polydactyly OMIM:613819
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the d... ORPHA:94066
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Dandy-Walker mal... OMIM:607361
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Microphthalmia, Micropenis, Hig... OMIM:619185
Tarp Syndrome
Pulmonary hypoplasia, Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal... ORPHA:2886
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Coffin-Siris Syndrome 4
Short 5th finger, Pulmonary artery atresia, Everted upper lip vermilion, Long philtrum, Thick low... OMIM:614609
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical hernia, Advanced t... OMIM:269250
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Bi... OMIM:615981
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia, Increased CSF lysine concentration, Smooth phil... ORPHA:2203
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Tetralog... ORPHA:2473
Zechi-Ceide Syndrome
Short distal phalanx of finger, Sandal gap, Cleft upper lip, Oligodontia, Short metatarsal, Cleft... OMIM:612916
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... OMIM:156530
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Postaxial ha... OMIM:220220
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror... ORPHA:2378
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-... ORPHA:2635
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum, Short philtrum OMIM:613192
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism, Ventri... ORPHA:3306
Walker-Warburg Syndrome
Bifid uvula, Ventriculomegaly, Cryptorchidism, Metatarsus valgus, Submucous cleft hard palate, An... ORPHA:899
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysge... OMIM:615542
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Weyers Acrofacial Dysostosis
Conical tooth, Postaxial foot polydactyly, Solitary median maxillary central incisor, Brachydacty... OMIM:193530
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Lateral ... ORPHA:464738
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Microglossia, Lateral ventricle dilatation, Postaxial polysy... OMIM:263520
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, Selective tooth agenesis, Widely spaced tee... OMIM:225280
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Holoprosencephaly, Pate... OMIM:269860
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Recurrent sinusitis, Ventricular septal d... OMIM:609029
Neuralgic Amyotrophy