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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
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