Gene: Tfap2a MGI:104671

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transcription factor AP-2, alpha

Synonyms:

Tcfap2a, Ap2tf, AP2alpha, Ap-2 (a), Ap2, AP-2 alpha

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 Tfap2a mutations

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

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

Human diseases associated with Tfap2a (2 diseases)
Human diseases predicted to be associated with Tfap2a (2590 diseases)

The table below shows human diseases associated to Tfap2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Branchiooculofacial Syndrome		Overfolded helix, Broad nasal tip, Depressed nasal bridge, Short neck, Single transverse palmar c...	OMIM:113620
Branchio-Oculo-Facial Syndrome		Conductive hearing impairment, Abnormal pinna morphology, Upslanted palpebral fissure, Broad nasa...	ORPHA:1297

The table below shows human diseases predicted to be associated to Tfap2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormality of finger	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Syndactyly Type 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect...	ORPHA:93403
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy	Conductive hearing impairment, External ear malformation, Abnormality of the stapes	OMIM:124490
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A9	Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A7	Postaxial polydactyly	OMIM:617642
Polydactyly, Postaxial, Type A10	Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin...	OMIM:174400
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co...	OMIM:128980
Syndactyly, Type Iv	2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,...	OMIM:186200
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb	OMIM:174200
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas...	ORPHA:3232
Deafness, X-Linked 2	Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil...	OMIM:304400
Polydactyly, Preaxial Ii	Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ...	OMIM:174500
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot	OMIM:601127
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca...	OMIM:617319
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly	OMIM:234280
Synpolydactyly 1	Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha...	OMIM:186000
Banki Syndrome	Radial deviation of finger, Clinodactyly	OMIM:109300
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy...	OMIM:174700
Acrocephalopolysyndactyly Type Iv	Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th...	OMIM:201020
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn...	ORPHA:3269
Camptosynpolydactyly, Complex	Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis	OMIM:263450
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Syndactyly Type 1	Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly	ORPHA:93402
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
Atrial Septal Defect 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven...	OMIM:607941
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ...	OMIM:113100
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal...	ORPHA:90646
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst...	OMIM:613854
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari...	ORPHA:87884
Cayler Cardiofacial Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot	OMIM:125520
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect	OMIM:249670
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect	OMIM:614429
Conductive Deafness-Malformed External Ear Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:3216
Santos Syndrome	Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly...	OMIM:613005
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br...	OMIM:186350
Pulmonic Stenosis And Deafness	Pulmonic stenosis, Ventricular hypertrophy	OMIM:178651
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect...	OMIM:617912
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,...	ORPHA:83461
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Ectrodactyly-Polydactyly Syndrome	Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th...	ORPHA:1892
Ectrodactyly-Polydactyly	Postaxial hand polydactyly, Split hand, Split foot	OMIM:225290
Duane-Radial Ray Syndrome	Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal...	OMIM:607323
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract	ORPHA:171844
Polydactyly, Postaxial, Type A8	Genu valgum, Postaxial polydactyly	OMIM:618123
Supravalvular Aortic Stenosis	Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ...	OMIM:185500
Syndactyly, Type Iii	Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly	OMIM:186100
Acropectoral Syndrome	Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb	OMIM:605967
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort...	OMIM:615779
Microspherophakia With Hernia	Microspherophakia, Superior lens subluxation, Retinal detachment	OMIM:157150
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis	OMIM:251750
Acrofacial Dysostosis, Weyers Type	Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping...	ORPHA:952
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo...	OMIM:618780
Distal Monosomy 13Q	Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Holoprosencephaly, Abno...	ORPHA:1590
Holoprosencephaly 13, X-Linked	Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Hypoplastic left he...	OMIM:301043
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, ...	ORPHA:3186
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe	OMIM:176305
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment	OMIM:184460
Symphalangism, Proximal, 1A	Stapes ankylosis, Conductive hearing impairment	OMIM:185800
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Radioulnar synostosis, Bro...	OMIM:154400
Synpolydactyly 2	Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ...	OMIM:608180
Cataract 20, Multiple Types	Membranous cataract, Cataract	OMIM:116100
Steinfeld Syndrome	Abnormal pinna morphology, Holoprosencephaly, Hypoplasia of the radius, Retinal coloboma, Aplasia...	OMIM:184705
Duane Retraction Syndrome	Hypoplasia of the radius, Short neck, Microcornea, Hypoplastic iris stroma, Abnormal pupil morpho...	ORPHA:233
Trisomy 13	Abnormal antihelix morphology, Abnormal helix morphology, Optic atrophy, Ventricular septal defec...	ORPHA:3378
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a...	OMIM:108760
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Microspherophakia-Metaphyseal Dysplasia	Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma	OMIM:157151
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms	OMIM:614224
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ...	ORPHA:3145
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Platyspondyly, Short nose, Abnormal epiphysis morphology, Cataract, Rhizo...	ORPHA:50945
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo...	ORPHA:210122
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly	OMIM:616890
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the...	OMIM:231060
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad phalanx, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect...	ORPHA:508498
Fixed Subaortic Stenosis	Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu...	ORPHA:3092
Pelvis-Shoulder Dysplasia	Hydrocephalus, Abnormal pinna morphology, Microcornea, Absent proximal finger flexion creases, Ta...	ORPHA:2839
Familial Median Cleft Of The Upper And Lower Lips	Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media...	ORPHA:401942
8P23.1 Duplication Syndrome	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn...	OMIM:609129
Craniosynostosis With Anomalies Of The Cranial Base And Digits	Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme...	OMIM:218530
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Malar ...	ORPHA:2972
Charge Syndrome	Abnormal cardiac septum morphology, Overfolded helix, Depressed nasal bridge, Hemivertebrae, Dela...	ORPHA:138
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach...	OMIM:618167
Bartsocas-Papas Syndrome 1	Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Short neck, Cicatricial lagophthal...	OMIM:263650
Charge Syndrome	Aplasia of the semicircular canal, Hemivertebrae, Down-sloping shoulders, Hypoplasia of the ulna,...	OMIM:214800
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia...	OMIM:274000
Cofs Syndrome	Sensorineural hearing impairment, Abnormality of retinal pigmentation, Microphthalmia, Cerebral c...	ORPHA:1466
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera...	OMIM:171480
Chime Syndrome	Depressed nasal ridge, Ventricular septal defect, Abnormal epiphysis morphology, Abnormality of t...	ORPHA:3474
Fryns Microphthalmia Syndrome	Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Neural tube defect, Facial cle...	OMIM:600776
Tricuspid Atresia	Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu...	ORPHA:1209
Oculoauricular Syndrome	Microphakia, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Macular...	OMIM:612109
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat...	OMIM:614980
Pupillary Membrane, Persistence Of	Megalocornea, Developmental cataract, Persistent pupillary membrane	OMIM:178900
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P...	OMIM:618164
Oculomaxillofacial Dysostosis	Cleft palate, Adducted thumb, Abnormality of the dentition, Micrognathia, Camptodactyly of finger...	ORPHA:1794
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Narrow chest, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognath...	OMIM:251230
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:605192
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia	OMIM:188740
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi...	OMIM:620067
Right Atrial Isomerism	Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris...	OMIM:208530
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Partial Atrioventricular Septal Defect	Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is...	ORPHA:1330
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Ocular albinism, Microphthalm...	ORPHA:1352
3Q29 Microduplication Syndrome	Low-set ears, Camptodactyly of toe, Microcephaly, Short neck, Wide nasal bridge, Downslanted palp...	ORPHA:251038
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m...	OMIM:611263
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Holoprosencephaly, Scoliosis, Amelia, Anterior encephalocele, Coloboma, Facial cleft...	OMIM:601357
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Clinodactyly of the 5th finger, Microphthalmia, Atrial septal defect, Upslanted palpebral fissure...	OMIM:600123
Focal Dermal Hypoplasia	Hydrocephalus, Hiatus hernia, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Delaye...	OMIM:305600
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Abnormality of the ear, Pectus excavatum, Talipes equinovarus, Inguinal...	ORPHA:1101
Facial Clefting, Oblique, 1	Cleft upper lip, Deep palmar crease, Facial cleft, Cleft palate	OMIM:600251
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Narrow chest, Hydrocephalus, Abnormal pinna morphology, Atrial septal defect, Short ribs, Postaxi...	OMIM:616546
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, Abnormal pinna morphology, Conductive hearing impairment, Lacrimal duct atre...	OMIM:603457
1Q21.1 Microdeletion Syndrome	Abnormal cardiac septum morphology, Hydrocephalus, Bulbous nose, Cataract, Microphthalmia, Clinod...	ORPHA:250989
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Upper eyelid coloboma, Limba...	ORPHA:398156
Jawad Syndrome	Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal...	OMIM:251255
Megalocornea	Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod...	OMIM:309300
Heterotaxy, Visceral, 12, Autosomal	Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup...	OMIM:619702
Cat Eye Syndrome	Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Stenosis of the external auditor...	OMIM:115470
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Micrognathia, Small thenar emine...	OMIM:239800
Emanuel Syndrome	Hydrocephalus, Congenital hip dislocation, Delayed eruption of teeth, Ventricular septal defect, ...	ORPHA:96170
Anophthalmia Plus Syndrome	Cleft palate, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, Non-midline clef...	ORPHA:1104
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia	Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot	OMIM:601348
Neu-Laxova Syndrome 2	Ablepharon, Depressed nasal ridge, Micrognathia, Microcephaly, Short neck, Scoliosis, Cerebellar ...	OMIM:616038
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Microcephaly, Scoliosis, Tetralogy o...	ORPHA:1727
Nail-Patella Syndrome	Pectus excavatum, Microcornea, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps aplasia,...	OMIM:161200
Anterior Segment Dysgenesis 2	Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste...	OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Sparse eyebrow, Depressed nasal bridge, Cupped ear, Absent lacrim...	OMIM:167730
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo...	OMIM:311895
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the ulna, Sensorineural hearing impairment, Clinodactyly of the 5th finger,...	ORPHA:3320
Congenital Absence Of Upper Arm And Forearm With Hand Present	Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still...	ORPHA:294975
Neu-Laxova Syndrome 1	Ablepharon, Short neck, Micromelia, Small placenta, Ventricular septal defect, Cataract, Micropht...	OMIM:256520
Holoprosencephaly	Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n...	ORPHA:2162
Acrofacial Dysostosis, Cincinnati Type	Flared lower limb metaphysis, Ablepharon, Microtia, Retrognathia, Micrognathia, Femoral bowing, A...	OMIM:616462
Aminopterin/Methotrexate Embryofetopathy	Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the cerebellum, Micromelia, Ventricular septal ...	ORPHA:1908
Congenital Rubella Syndrome	Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Atrial se...	ORPHA:290
Jacobsen Syndrome	Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Short neck, Microcornea, Optic atrophy, ...	OMIM:147791
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of...	OMIM:618845
Bardet-Biedl Syndrome 12	Polydactyly	OMIM:615989
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturricephaly, Ethmoidal encep...	OMIM:607597
Acrofacial Dysostosis, Catania Type	Tooth agenesis, Microretrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Small hand,...	ORPHA:1786
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ...	OMIM:614779
Conotruncal Heart Malformations	Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran...	OMIM:217095
Spondylo-Ocular Syndrome	Abnormal antihelix morphology, Abnormal eyebrow morphology, Abnormal intervertebral disk morpholo...	ORPHA:85194
Holt-Oram Syndrome	Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Hypoplasia of the ...	OMIM:142900
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric...	ORPHA:1461
Dextrocardia With Unusual Facies And Microphthalmia	Vertebral segmentation defect, Micrognathia, Macrotia, Anophthalmia, Microphthalmia, Supernumerar...	OMIM:221950
Autosomal Dominant Keratitis	Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro...	ORPHA:2334
Fraser Syndrome 1	Hydrocephalus, Abnormal pinna morphology, Depressed nasal bridge, Cleft ala nasi, Abnormality of ...	OMIM:219000
Coats Disease	Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp...	ORPHA:190
Trisomy 18	Anencephaly, Microcornea, Abnormality of the upper limb, Ventricular septal defect, Short nose, C...	ORPHA:3380
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Pulmonary valve atresia, P...	OMIM:265380
Nephronophthisis 16	Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper...	OMIM:615382
Emanuel Syndrome	Congenital hip dislocation, Hypoplasia of the corpus callosum, Ventricular septal defect, Abnorma...	OMIM:609029
Aniridia 2	Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia	OMIM:617141
Cataract 21, Multiple Types	Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,...	OMIM:610202
Familial Osteodysplasia, Anderson Type	Bulbous nose, Depressed nasal ridge, Long nose, Carious teeth, Mandibular prognathia, Elbow dislo...	ORPHA:2769
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Decreased response to growth ...	OMIM:220210
Frontonasal Dysplasia 1	Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Cataract, Microphthalmia, T...	OMIM:136760
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma	OMIM:616428
Fanconi Anemia, Complementation Group B	Hydrocephalus, Absent thumb, Overfolded helix, Hypergonadotropic hypogonadism, Short neck, Coarct...	OMIM:300514
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Craniotelencephalic Dysplasia	Hydrocephalus, Microcephaly, Arrhinencephaly, Low-set, posteriorly rotated ears, Cerebellar hypop...	ORPHA:1528
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven...	OMIM:617205
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt...	OMIM:616201
22Q11.2 Deletion Syndrome	Tricuspid atresia, Hydrocephalus, Bulbous nose, Overfolded helix, Short neck, Carious teeth, Opti...	ORPHA:567
Heart And Brain Malformation Syndrome	Wide anterior fontanel, Cerebral atrophy, Dandy-Walker malformation, Attached earlobe, Hand clenc...	OMIM:616920
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ...	OMIM:176240
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, 2-3 toe syndactyly, Talipes equi...	OMIM:236500
Yunis-Varon Syndrome	Absent thumb, Sparse eyebrow, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shou...	OMIM:216340
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Microphthalmia With Limb Anomalies	Hydrocephalus, Depressed nasal bridge, True anophthalmia, Abnormality of the upper limb, Optic at...	ORPHA:1106
Frontofacionasal Dysplasia	Depressed nasal ridge, Depressed nasal bridge, Microcornea, Hypoplasia of the corpus callosum, Sh...	ORPHA:1791
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane	OMIM:225200
Postaxial Tetramelic Oligodactyly	Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly	ORPHA:2730
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Abnormality of the humerus, Microphthalmia, Elbow dislocation, Abnormality of fing...	ORPHA:2538
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:614262
Kniest Dysplasia	Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly, Cataract, Dumbb...	ORPHA:485
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Hypertensive retino...	ORPHA:29072
Walker-Warburg Syndrome	Hydrocephalus, Microcornea, Retinal dystrophy, Polymicrogyria, Optic atrophy, Cataract, Microphth...	ORPHA:899
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Abnormal location of the eyebrow, Microcornea, Optic ...	ORPHA:141099
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Elbow ankylosis, Symphalangism affecting the phalanges of the hand, Hypogonadism, ...	ORPHA:2658
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions	Pulmonic stenosis, Abnormal heart valve morphology	OMIM:126190
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Micrognathia, Microcephaly, Short neck, Bilateral single transver...	ORPHA:2516
Cleidocranial Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, Absent frontal sinuse...	OMIM:119600
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Atrial septal defect, Coarctation of aorta	OMIM:614300
Cousin Syndrome	Hydrocephalus, Microtia, first degree, Microcornea, Rhizomelia, Microphthalmia, Absent proximal f...	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Opacification of the corneal stroma, Anencephaly, Cortical dysplasia, Optic nerve ...	OMIM:615287
Malan Syndrome	Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o...	OMIM:614753
Triphalangeal Thumbs With Brachyectrodactyly	Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand	OMIM:190680
Spondylodysplastic Ehlers-Danlos Syndrome	Slender long bones with narrow diaphyses, Depressed nasal bridge, Megalocornea, Platyspondyly, Ab...	ORPHA:536471
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C...	OMIM:607778
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation	OMIM:619433
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Micrognathia, Depressed nasal bridge, Communicating hydrocephalus, Telecanthus, ...	ORPHA:1064
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor...	ORPHA:1455
Retinitis Pigmentosa 84	Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy	OMIM:618220
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Aniridia 1	Ptosis, Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of th...	OMIM:106210
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly	ORPHA:2091
Donnai-Barrow Syndrome	Short sternum, Broad nasal tip, Depressed nasal bridge, Retinal dystrophy, Downslanted palpebral ...	OMIM:222448
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
Gillespie Syndrome	Cerebellar hypoplasia, Hypoplasia of the iris, Thin corpus callosum, Aniridia, Truncus arteriosus	OMIM:206700
Chromosome 13Q33-Q34 Deletion Syndrome	Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth, Advanced eru...	OMIM:619148
Velocardiofacial Syndrome	Hypoparathyroidism, Abnormality of the ear, Bulbous nose, Inguinal hernia, Retrognathia, Abnormal...	OMIM:192430
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Delayed erupti...	OMIM:300166
Focal Dermal Hypoplasia	Abnormal cardiac septum morphology, Ventricular septal defect, Hypoplastic pelvis, Abnormal epiph...	ORPHA:2092
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs	OMIM:138790
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Coarctation of aorta, Macular coloboma, Facial palsy, Interrupted aortic arch	OMIM:107550
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Multiple Synostoses Syndrome 1	Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Bilateral...	OMIM:186500
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology	ORPHA:2868
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ...	OMIM:212550
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Delayed eruption of primary teeth, Multiple non-er...	OMIM:273050
Treacher Collins Syndrome 3	Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, Coloboma, Downslanted pa...	OMIM:248390
Cortical Blindness, Retardation, And Postaxial Polydactyly	Short nose	OMIM:218010
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media	OMIM:221320
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone	ORPHA:3074
Triopia	Abnormal pupil morphology, Dolichocephaly, Microcornea, Midline facial cleft, Frontal bossing, Ir...	ORPHA:3374
Kahrizi Syndrome	Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge	OMIM:612713
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome	Corneal opacity, Malar flattening, Micrognathia, Downslanted palpebral fissures, Cataract, Mandib...	OMIM:612469
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate	OMIM:172880
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Hydrocephalus, Corneal opacity, Calvarial skull defect, Congenita...	ORPHA:1647
Baller-Gerold Syndrome	Hydrocephalus, Hypoplasia of the radius, Polymicrogyria, Optic atrophy, Hypoplasia of the ulna, D...	OMIM:218600
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Protruding ear, Hypoplasia of the zygomatic bone, Umbilical hernia, Mandibular prognathia, Low-se...	ORPHA:1778
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor...	ORPHA:860
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi...	OMIM:303110
Aortic Valve Disease 1	Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit...	OMIM:109730
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear	OMIM:615706
X-Linked Mandibulofacial Dysostosis	Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Micrognathia, Lo...	ORPHA:1131
Jacobsen Syndrome	Short neck, Microcornea, Downslanted palpebral fissures, Ventricular septal defect, Short nose, C...	ORPHA:2308
Wagner Vitreoretinopathy	Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit...	OMIM:143200
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Microtia, Micrognathia, Anotia, Bifid nose, Coarctation of aorta, Agenesis of corp...	ORPHA:268249
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Pelvis-Shoulder Dysplasia	Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili...	OMIM:169550
Dislocation Of The Hip-Dysmorphism Syndrome	Narrow mouth, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation, Deviati...	ORPHA:2412
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyebrow, Finger clinodactyly, Cranium bifidum occultum, Hypoplasia of the maxilla, Catarac...	ORPHA:306542
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Truncus Arteriosus	Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca...	ORPHA:3384
Phaver Syndrome	Overfolded helix, Depressed nasal bridge, Radioulnar synostosis, Ulnar deviation of finger, Downs...	ORPHA:2876
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Vent...	OMIM:228940
Rhiny	Anteverted nares, Short nose	OMIM:180360
Distal Monosomy 19P13.3	Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia, Umbilical hernia	ORPHA:96129
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot	OMIM:617992
Split-Hand/Foot Malformation 4	Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang...	OMIM:605289
Cerebrooculonasal Syndrome	High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Postaxial hand polydactyly...	ORPHA:66625
Craniodiaphyseal Dysplasia	Stenosis of the external auditory canal, Conductive hearing impairment	ORPHA:1513
Isolated Optic Nerve Hypoplasia/Aplasia	Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat...	ORPHA:137902
Corneal Dystrophy, Groenouw Type I	Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy	OMIM:121900
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bulbous nose, Bicuspid aortic valve, Microcephaly, Coarctation of aorta, Broad hallux, Broad thum...	OMIM:612474
Aorta Coarctation	Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d...	ORPHA:1457
Recombinant Chromosome 8 Syndrome	Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Cerebral atr...	OMIM:179613
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta	OMIM:616559
Fanconi Anemia	Abnormality of femur morphology, Hydrocephalus, Arteriovenous malformation, Abnormal cardiac sept...	ORPHA:84
Double Outlet Right Ventricle	Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio...	ORPHA:3426
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur...	ORPHA:99095
Richieri-Costa/Guion-Almeida Syndrome	Pectus excavatum, Malar flattening, Palmoplantar cutis laxa, Microcephaly, Spina bifida occulta, ...	OMIM:268850
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Atrial septal defect, Brachydactyly, Wide nasal bridge, Pulmonary artery ...	ORPHA:401935
Bardet-Biedl Syndrome 7	Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly	OMIM:615984
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Ventricular septal defect, Roc...	OMIM:301056
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ...	ORPHA:3268
Mohr Syndrome	High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the max...	OMIM:252100
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect	OMIM:178650
Nager Syndrome	Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Atre...	ORPHA:245
Meckel Syndrome, Type 8	Talipes equinovarus, Encephalocele, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydac...	OMIM:613885
Atrioventricular Septal Defect, Susceptibility To, 2	Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo...	OMIM:606217
Weill-Marchesani Syndrome	Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Aortic valve stenosis	ORPHA:3449
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Enlarged thorax, Cerebral cortical atrophy, Adducted thumb, Holoprosencephaly, Micrognathia, Camp...	ORPHA:2570
Marfanoid Habitus With Situs Inversus	Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro...	OMIM:609008
Congenitally Corrected Transposition Of The Great Arteries	Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab...	ORPHA:216694
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach...	OMIM:616468
Intellectual Disability-Cataracts-Kyphosis Syndrome	Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge	ORPHA:171860
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst...	ORPHA:179
Burn-Mckeown Syndrome	Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Atrial septal defect, Short pa...	OMIM:608572
Short-Rib Thoracic Dysplasia 12	Abnormal pinna morphology, Hydrocephalus, Short neck, Anencephaly, Ventricular septal defect, Omp...	OMIM:269860
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hydrocephalus, Absent extraocular muscles, Malar flattening, Ab...	OMIM:109120
Carpenter Syndrome 1	Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasa...	OMIM:201000
Ventricular Septal Defect 3	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect	OMIM:614432
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal calcium-phosphate regulating hormone level, Bulbous nose, Abnormally ossified vertebrae,...	ORPHA:2636
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar crease, Short no...	OMIM:614701
Ablepharon Macrostomia Syndrome	Corneal opacity, Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, Depressed nasal bridge, C...	ORPHA:920
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate...	ORPHA:3304
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ...	OMIM:619657
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Type I diabetes mellitu...	ORPHA:371428
Left Ventricular Noncompaction 1	Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd...	OMIM:604169
Brachydactyly-Syndactyly Syndrome	Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin...	OMIM:610713
Wagr Syndrome	Micrognathia, Microcephaly, Scoliosis, Hearing abnormality, Cataract, Aplasia/Hypoplasia of the i...	ORPHA:893
Liberfarb Syndrome	Sensorineural hearing impairment, Delayed epiphyseal ossification, Retinal degeneration, Retinal ...	OMIM:618889
Aniridia-Absent Patella Syndrome	Inguinal hernia, Aplasia/Hypoplasia of the patella, Cataract, Aniridia, Ptosis	ORPHA:1069
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	2-3 toe syndactyly, Precocious puberty, Cryptophthalmos, Ectopia pupillae, Anophthalmia, Microcor...	OMIM:615877
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, 2-3 finger syndactyly, Tapered finger, Broad hallux, Downslanted palpebra...	ORPHA:435638
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Carious teeth, Macrotia, Man...	ORPHA:1110
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Protruding ear, Hypoplasia of the zygomatic bone	ORPHA:319171
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pectus excavatum, Slanting of the palpebral fissure, Tapered finger, Short nose, Primary microcep...	ORPHA:476126
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Hypo...	OMIM:617159
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Microcephaly, Ventricular septal defect, Hydranencephaly, Underde...	OMIM:601355
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal antihelix morphology, Malar flattening, Micrognathia, Low-set, posteriorly rotated ears,...	ORPHA:1968
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Dandy-Walker malformation, Orbital cyst, Cleft ala nasi, Congenital hip di...	OMIM:164180
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Pectus excavatum, Overfolded helix, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,...	OMIM:609945
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Down-sloping shoulders, Short neck, Delayed erupti...	ORPHA:96264
Aural Atresia, Congenital	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:607842
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of...	ORPHA:1354
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Abnormal retinal vascular mo...	ORPHA:1390
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior...	OMIM:611638
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent...	ORPHA:284169
Stankiewicz-Isidor Syndrome	2-3 toe syndactyly, Absent thumb, Retrognathia, Micrognathia, Truncus arteriosus, Hearing impairm...	OMIM:617516
Crane-Heise Syndrome	Short distal phalanx of finger, Talipes equinovarus, Abnormally ossified vertebrae, Micrognathia,...	ORPHA:1512
Occipital Horn Syndrome	Pectus excavatum, Hiatus hernia, Cerebral calcification, Abnormality of the pubic bone, Humerus v...	ORPHA:198
Treacher-Collins Syndrome	High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B...	ORPHA:861
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Microphthalmia, Micrognathia, Short neck, Platyspondy...	ORPHA:93267
Mosaic Trisomy 9	Hemivertebrae, Short neck, Finger clinodactyly, Micromelia, Facial cleft, Microphthalmia, Rocker ...	ORPHA:99776
Meckel Syndrome	Hydrocephalus, Depressed nasal ridge, Anencephaly, Microcornea, Optic atrophy, Cataract, Bowing o...	ORPHA:564
Ulnar Hemimelia	Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia...	ORPHA:93320
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Everted lower lip vermilion, Long philtrum, Deep philtrum, Open mouth	OMIM:137550
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A...	ORPHA:363417
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Agenesis o...	OMIM:218670
Toluene Embryopathy	Micrognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone	ORPHA:1920
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut...	OMIM:618316
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone...	OMIM:613801
Microphthalmia, Syndromic 3	Hemivertebrae, Hypoplasia of the corpus callosum, Ventricular septal defect, Cataract, Microphtha...	OMIM:206900
Scimitar Syndrome	Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta...	ORPHA:185
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia	OMIM:251800
Yunis-Varon Syndrome	Hydrocephalus, Abnormal pinna morphology, Slender long bones with narrow diaphyses, Absent thumb,...	ORPHA:3472
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short nose, Cataract, Short nasal septum, Anosmia	OMIM:302950
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola...	ORPHA:228410
Diprosopus	Abnormal cardiac septum morphology, Abnormality of retinal pigmentation, External ear malformatio...	ORPHA:1681
Noonan Syndrome 11	Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect	OMIM:618499
Isolated Aniridia	Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia	ORPHA:250923
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract, Microphthalmia	OMIM:610092
Mesomelic Limb Shortening And Bowing	Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac...	OMIM:249710
Pycnodysostosis	Persistence of primary teeth, Spondylolisthesis, Spondylolysis, Micrognathia, Narrow iliac wing, ...	OMIM:265800
Momo Syndrome	Dental malocclusion, Taurodontia, Short sternum, Femoral bowing, Short neck, Delayed eruption of ...	ORPHA:2563
Coffin-Lowry Syndrome	Abnormal mitral valve morphology, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed...	ORPHA:192
Cataract-Microcornea Syndrome	Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Sarcosinemia	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:3129
Van Den Ende-Gupta Syndrome	Pectus excavatum, Overfolded helix, Femoral bowing, Depressed nasal bridge, Tapered finger, Gleno...	OMIM:600920
Cleidocranial Dysplasia	Sinusitis, Supernumerary tooth, Micrognathia, Delayed eruption of teeth, Spina bifida occulta, Ca...	ORPHA:1452
Split-Hand/Foot Malformation 6	Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly	OMIM:225300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Thickened helices, Hydrocephalus, Malar flattening, Hypoplasia of the zygomatic bone, Hearing abn...	ORPHA:1555
Anterior Segment Dysgenesis 3	Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior...	OMIM:601631
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Exfoliation Syndrome	Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos...	OMIM:177650
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose, Juvenile cataract	ORPHA:438178
Hydrolethalus	Hydrocephalus, Retrognathia, Micrognathia, Abnormality of the sense of smell, Anencephaly, Arrhin...	ORPHA:2189
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi...	OMIM:246560
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ...	OMIM:619149
Cohen Syndrome	Pectus excavatum, Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Gen...	ORPHA:193
Developmental And Epileptic Encephalopathy 73	Short nose, Cataract, Narrow nasal bridge	OMIM:618379
Frank-Ter Haar Syndrome	Pectus excavatum, Broad nasal tip, Depressed nasal bridge, Megalocornea, Hypoplasia of the corpus...	OMIM:249420
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Microphthalmia, Cerebral atrophy, Microcephaly, Retinal deta...	OMIM:251270
Distal Monosomy 6P	Depressed nasal bridge, Downslanted palpebral fissures, Abnormal epiphysis morphology, Vertebral ...	ORPHA:96125
Noonan Syndrome 8	Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Left ventricular hypertrophy, Vent...	OMIM:615355
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Atrial septal defect, Spina bifida occulta, Ventricular septal defect, P...	OMIM:301030
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Otosclerosis 10	Otosclerosis	OMIM:615589
Isolated Arrhinia	Microtia, Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal sept...	ORPHA:1134
Hurler Syndrome	Hydrocephalus, Retinal degeneration, Broad nasal tip, Depressed nasal bridge, Short neck, Hypopla...	OMIM:607014
Trisomy 1Q	Hydrocephalus, Microretrognathia, Arachnodactyly, Depressed nasal bridge, Camptodactyly of finger...	ORPHA:261344
Fibular Hemimelia	Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu...	ORPHA:93323
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Upper eyelid coloboma, Aplasia/Hyp...	ORPHA:2095
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Malar prominence, Hypoplasia of the zygomatic bone, Macrotia, Mandibular prognathia	ORPHA:2715
Alg3-Cdg	Abnormal pinna morphology, Abnormality of the endocrine system, Dandy-Walker malformation, Hypopi...	ORPHA:79321
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment	ORPHA:85179
Alagille Syndrome 2	Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo...	OMIM:610205
Trisomy 12P	Abnormal antihelix morphology, Aplasia/Hypoplasia affecting the eye, Clinodactyly of the 5th fing...	ORPHA:1699
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr...	ORPHA:2299
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Downslanted palpebral fissures, Single transverse palmar crease, Short no...	OMIM:206920
Craniofacioskeletal Syndrome	Barrel-shaped chest, Downslanted palpebral fissures, Ventricular septal defect, Clinodactyly of t...	OMIM:300712
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo...	ORPHA:3104
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:610738
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met...	OMIM:156510
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect	OMIM:615297
Meckel Syndrome, Type 1	Abnormal cardiac septum morphology, Hydrocephalus, Short neck, Anencephaly, Bowing of the long bo...	OMIM:249000
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Cardiomegal...	OMIM:306955
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr...	OMIM:615415
Cerebrooculonasal Syndrome	Hydrocephalus, Sparse eyebrow, Hypoplasia of the corpus callosum, Short nose, Encephalocele, Prob...	OMIM:605627
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Hemivertebrae, 11 pairs of ribs, Anophthalmia, Ventricular sept...	ORPHA:77298
16P13.11 Microduplication Syndrome	Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans...	ORPHA:261243
Microphthalmia, Syndromic 9	Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Micrognathia, Single ventricle, Anophth...	OMIM:601186
Vacterl With Hydrocephalus	Hydrocephalus, Microphthalmia, Aqueductal stenosis, Inguinal hernia, Retrognathia, Micrognathia, ...	ORPHA:3412
Meckel Syndrome, Type 10	Abnormal pinna morphology, Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Cereb...	OMIM:614175
Metatropic Dysplasia	Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cam...	ORPHA:2635
Isolated Split Hand-Split Foot Malformation	Sensorineural hearing impairment, Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly	ORPHA:2440
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Prominent ear helix, Bulbous nose, Thick eyebrow, Broad nasal tip, Anophthalmia, H...	ORPHA:411986
Cataract 9, Multiple Types	Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia	OMIM:604219
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Kyphosis, Protruding ear, Abnormal anterior chamber morphology,...	ORPHA:2479
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasi...	ORPHA:1067
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro...	OMIM:618500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Short humerus, Abnormality of the vertebral column, Abnormal vertebral morphology,...	OMIM:314390
Weill-Marchesani Syndrome 4	Phakodonesis, Iridodonesis, Ectopia lentis	OMIM:613195
Sponastrime Dysplasia	Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, ...	ORPHA:93357
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Hearing abnormality, Aniridia, Abnormality of the pulmonary artery	ORPHA:1065
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Aplasia/Hypoplasia involving the nose, Microtia, Abnormally ossified vertebrae, Mi...	ORPHA:3301
Jackson-Weiss Syndrome	2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t...	ORPHA:1540
Phace Syndrome	Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Cataract, Aortic root ane...	ORPHA:42775
Micro Syndrome	Microcornea, Optic atrophy, Short nose, Cataract, Microphthalmia, Pachygyria, Micrognathia, Scoli...	ORPHA:2510
Deafness And Myopia	Conductive hearing impairment, Profound hearing impairment	OMIM:221200
Neonatal Adrenoleukodystrophy	Sensorineural hearing impairment, Wide anterior fontanel, Abnormality of retinal pigmentation, Bi...	ORPHA:44
Microphthalmia With Brain And Digit Anomalies	Sensorineural hearing impairment, Abnormality of the hypothalamus-pituitary axis, Microcephaly, S...	ORPHA:139471
Cleft Velum	Conductive hearing impairment, Recurrent otitis media	ORPHA:99772
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Micrognat...	ORPHA:1516
Split-Hand/Foot Malformation 2	Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly	OMIM:313350
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ulnar deviation of finger, Ventricular septal defect, Sandal gap, Bowing of th...	ORPHA:261330
Short Rib-Polydactyly Syndrome	Cleft palate, Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short lo...	ORPHA:1505
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Anencephaly, Ventricular septal defect, Spina bifida, Gastroschisis	ORPHA:2476
8Q24.3 Microdeletion Syndrome	Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect, Broad nasal t...	ORPHA:508488
Bartsocas-Papas Syndrome	Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of the toes, Ankyloblepharon, Absent ...	ORPHA:1234
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi...	OMIM:613751
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thorax, Abnormality o...	ORPHA:1350
Gracile Bone Dysplasia	Hydrocephalus, Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, An...	OMIM:602361
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter...	OMIM:108900
Acro-Renal-Ocular Syndrome	Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Cataract,...	ORPHA:959
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Cardiac Diverticulum	Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, U...	ORPHA:1686
3C Syndrome	Abnormal mitral valve morphology, Hydrocephalus, Atrioventricular canal defect, Depressed nasal b...	ORPHA:7
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Retrognathia, Micrognathia, Camptodactyly of finger, Anotia, Micr...	ORPHA:2554
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,...	ORPHA:79345
Otodental Syndrome	Taurodontia, Microphthalmia, Otitis media with effusion, Retinal coloboma, Abnormal molar morphol...	ORPHA:2791
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Aplasia/Hypoplasia of the eyebrow, Low-...	ORPHA:990
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Peripheral pulmonary artery stenosis, Atrial septal defect, Dandy-Walker malformat...	OMIM:613001
Robinow Syndrome	Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Persistence of primary teeth, P...	ORPHA:97360
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Corneal opacity, Cerebral cortical atrophy, Aortic valve stenosis, Cere...	ORPHA:2396
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Short finger, Syndactyly, Split foot	OMIM:314360
Doors Syndrome	Bulbous nose, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Cutaneous synd...	ORPHA:79500
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Shallow orbits, Ventricular septal defect, Iridodonesis, Broad ribs, Hypo...	OMIM:608328
Momo Syndrome	Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Short neck, Delayed eruption o...	OMIM:157980
Middle Ear Neuroendocrine Tumor	Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin...	ORPHA:100084
Norrie Disease	Abnormal helix morphology, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Cataract, Microph...	ORPHA:649
Nivelon-Nivelon-Mabille Syndrome	Narrow chest, Distal clavicular thinning, Upslanted palpebral fissure, Microcephaly, Brachydactyl...	OMIM:600092
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Symbrachydactyly Of Hands And Feet	Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,...	ORPHA:1570
Limb Body Wall Complex	Hydrocephalus, Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the...	ORPHA:2369
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma	OMIM:615147
Aarskog-Scott Syndrome	Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Small...	ORPHA:915
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch...	OMIM:609052
Fryns Syndrome	Abnormal helix morphology, Prominent fingertip pads, Hypoplasia of the optic tract, Short neck, V...	OMIM:229850
Insulin-Like Growth Factor I, Resistance To	Pectus excavatum, Hypoplasia of the corpus callosum, Ventricular septal defect, Sandal gap, Abnor...	OMIM:270450
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Highly arched eyebrow, Underdeveloped nasal alae, Malar flattening	OMIM:611867
Supernumerary Nostril	Abnormality of ethmoid sinus, Facial cleft	ORPHA:141096
Microtia, Hearing Impairment, And Cleft Palate	Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In...	OMIM:612290
Treacher Collins Syndrome 4	Conductive hearing impairment, Malar flattening, Micrognathia, Microcephaly, Downslanted palpebra...	OMIM:618939
D-Lactic Aciduria With Gout	Downslanted palpebral fissures, Microcephaly, Aniridia, Inguinal hernia	OMIM:245450
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal...	OMIM:614500
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Short neck, Downslanted palpebral fissur...	OMIM:612582
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:180104
Grange Syndrome	Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp...	ORPHA:79094
Acrocardiofacial Syndrome	Mitral stenosis, Cerebral cortical atrophy, Atrial septal defect, Hyperthyroidism, Split foot, Ca...	ORPHA:2008
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose	ORPHA:2015
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor...	OMIM:193230
Treacher Collins Syndrome 2	Conductive hearing impairment, Microtia	OMIM:613717
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Short nose, Depressed nasal ridge	ORPHA:1355
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration	OMIM:614292
Microphthalmia, Syndromic 12	Retrognathia, Micrognathia, Broad nasal tip, Anophthalmia, Hypoplastic left atrium, Ventricular s...	OMIM:615524
Stickler Syndrome Type 2	Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90654
Aniridia And Absent Patella	Aplasia/Hypoplasia of the patella, Cataract, Aniridia	OMIM:106220
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Microphthalmia, Absent thumb, Hypergonadotropic hypogonadism, Partial duplication ...	OMIM:227646
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Paroxysmal supraven...	OMIM:617877
Laurin-Sandrow Syndrome	Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,...	ORPHA:2378
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Absent eyebrow, Malar flattening,...	ORPHA:85199
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Absent eyebrow, Micro...	OMIM:147770
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Fryns Syndrome	Short distal phalanx of finger, Abnormal cardiac septum morphology, Corneal opacity, Clinodactyly...	ORPHA:2059
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:615279
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
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Large earlobe, Hypoplasia of the ear cartilage, Camptodactyly of finger, Scoliosis, Bilateral sin...	ORPHA:1236
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	2-3 toe syndactyly, Joint contracture of the 4th finger, Inguinal hernia, Retrognathia, Micrognat...	OMIM:618914
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Osteolysis Syndrome, Recessive	Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan...	OMIM:259610
Orofaciodigital Syndrome Vi	High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ...	OMIM:277170
Galloway-Mowat Syndrome 1	Hiatus hernia, Slender finger, Hypoplasia of the corpus callosum, Optic atrophy, Cataract, Microp...	OMIM:251300
Craniofacial-Deafness-Hand Syndrome	Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Aorto-Ventricular Tunnel	Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm...	ORPHA:3400
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:638
Burn-Mckeown Syndrome

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