Gene: Foxc2 MGI:1347481

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box C2

Synonyms:

MFH-1, Hfhbf3, Fkh14, Mfh1

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 Foxc2 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 Foxc2 (2 diseases)
Human diseases predicted to be associated with Foxc2 (2485 diseases)

The table below shows human diseases associated to Foxc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lymphedema-Distichiasis Syndrome		Nonimmune hydrops fetalis, Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasi...	OMIM:153400
Lymphedema-Distichiasis Syndrome		Cataract, Corneal erosion, Ectropion, Distichiasis, Arrhythmia, Conjunctivitis, Predominantly low...	ORPHA:33001

The table below shows human diseases predicted to be associated to Foxc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Anterior Segment Dysgenesis 3	Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen...	OMIM:601631
Anterior Segment Dysgenesis 8	Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr...	OMIM:617319
Pupillary Membrane, Persistence Of	Megalocornea, Developmental cataract, Persistent pupillary membrane	OMIM:178900
Bilateral Acute Depigmentation Of The Iris	Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph...	ORPHA:69736
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri...	OMIM:604229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop...	ORPHA:1067
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Microphthalmia, Isolated, With Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia	ORPHA:1068
Microphthalmia, Isolated, With Coloboma 10	Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia	OMIM:616428
Ventricular Septal Defect 1	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,...	OMIM:614429
Edict Syndrome	Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea	OMIM:614303
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Glaucoma 1, Open Angle, A	Abnormal iris vasculature	OMIM:137750
Dilution, Pigmentary	Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation	OMIM:126070
Waardenburg Syndrome, Type 2A	Hypoplastic iris stroma, Premature graying of hair, Albinism, Numerous pigmented freckles, White ...	OMIM:193510
Autosomal Dominant Keratitis	Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem...	ORPHA:2334
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Hypoplasia of the fovea	OMIM:620086
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect	OMIM:614474
Isolated Aniridia	Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Tietz Albinism-Deafness Syndrome	Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis	OMIM:103500
Gjc2-Related Late-Onset Primary Lymphedema	Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph...	ORPHA:568051
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Iridocorneal Endothelial Syndrome	Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i...	ORPHA:64734
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Aniridia 3	Cataract, Aniridia	OMIM:617142
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot	OMIM:125520
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pectus excavatum, Low-set ears, Conductive hearing impairment, High palate, Pulmonic stenosis, Po...	OMIM:617877
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Low-set ears, Scoliosis, Coarctation of aorta, Conductive hearing...	ORPHA:2780
Cataract-Microcornea Syndrome	Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea	ORPHA:1377
Meige Disease	Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Pedal edema, Atyp...	ORPHA:90186
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Epicanthus, Pericardial lymphangiectasia, Lymphedema, Blepharophimosis, Pulmonary ...	OMIM:616006
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia	OMIM:606574
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs...	ORPHA:1797
Follicular Lymphoma	Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly	ORPHA:545
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Scoliosis, Camptodactyly of finger, Short thorax, Short neck, ...	ORPHA:2311
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,...	ORPHA:137902
Yemenite Deaf-Blind Hypopigmentation Syndrome	Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Chorioretinal col...	OMIM:601706
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen...	OMIM:619165
Lymphedema-Hypoparathyroidism Syndrome	Cataract, Lymphedema, Pulmonary lymphangiectasia, Telecanthus, Ptosis	OMIM:247410
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Heart And Brain Malformation Syndrome	Low-set ears, Camptodactyly of finger, Attached earlobe, Cleft lip, Ventricular septal defect, Po...	OMIM:616920
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Scoliosis, Unilateral vertebral artery hypoplasia, Anal stenosis, Aplasia...	OMIM:613686
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Megalocornea	Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th...	OMIM:309300
Waardenburg Syndrome, Type 2F	Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp...	OMIM:619947
22Q11.2 Duplication Syndrome	Scoliosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted ao...	ORPHA:1727
Anterior Segment Dysgenesis 2	Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia...	OMIM:610256
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
White Forelock With Malformations	Low-set, posteriorly rotated ears, Abnormal palate morphology, Atrial septal defect, Deep philtru...	ORPHA:2475
Gms Syndrome	Rieger anomaly	ORPHA:2090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Pleural effusion, Hydrops fetalis, Absent eyelashes, Palpebral edema, Absent eyebrow, Abnormality...	ORPHA:69735
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Hydrops Fetalis	Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Arrhythmia, Capillary leak, Pericard...	ORPHA:1041
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula	ORPHA:370097
Mullegama-Klein-Martinez Syndrome	Low-set ears, Scoliosis, Coarctation of aorta, Bifid uvula, Cleft lip, Atresia of the external au...	OMIM:301022
Congenital Heart Defects, Multiple Types, 4	Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de...	OMIM:615779
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Abnormality of the odontoid process, Vertebral fusion, Cystic h...	OMIM:277300
Cataract 9, Multiple Types	Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea	OMIM:604219
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Severe sensorineural hearing impairment, Reduced bone mineral ...	ORPHA:2983
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Femoral-Facial Syndrome	Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Low-set ears, Cleft palate, A...	ORPHA:1988
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Norrie Disease	Cataract, Microphthalmia, Buphthalmos, Hypoplasia of the iris, Shallow anterior chamber, Corneal ...	OMIM:310600
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Scoliosis, Hearing impairment, Cleft palate, Webbed neck, Conductive hea...	ORPHA:2990
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae, Microphthalmia	OMIM:156900
Cleidocranial Dysplasia	Chronic otitis media, Scoliosis, Hearing impairment, Cleft palate, Supernumerary tooth, Carious t...	ORPHA:1452
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ...	OMIM:128980
Arthrogryposis, Distal, Type 1C	Increased nuchal translucency, High palate, Scoliosis, Retrognathia, Pursed lips, Bifid uvula, Sh...	OMIM:619110
Chromomycosis	Edema, Ectropion, Keratoconjunctivitis sicca, Lymphangiectasis, Atypical scarring of skin, Lymphe...	ORPHA:182
Ectopia Lentis Et Pupillae	Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination...	OMIM:225200
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Acrocraniofacial Dysostosis	Abnormality of the incus, Craniosynostosis, Pectus excavatum, Low-set, posteriorly rotated ears, ...	ORPHA:949
Lymphatic Malformation 6	Nonimmune hydrops fetalis, Epicanthus, Generalized edema, Edema, Polyhydramnios, Periorbital edem...	OMIM:616843
Waardenburg Syndrome, Type 4B	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:613265
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Periorbital edema, Conjunctival hyperemia, Gastrointestinal hemorrhage,...	OMIM:142680
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septal defect, ...	OMIM:265380
Microphthalmia, Isolated, With Coloboma 5	Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia	OMIM:611638
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Aniridia 1	Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Corneal erosion, Anterior su...	OMIM:106210
Cataract 21, Multiple Types	Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Macular hypopla...	OMIM:610202
Yellow Nail Syndrome	Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels	OMIM:153300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Epicanthus, Astigmatism, Downslanted palpebral fissures, Upslanted palpebral fissure, L...	OMIM:152950
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Carpenter Syndrome 1	Scoliosis, Agenesis of permanent teeth, Tetralogy of Fallot, Ventricular septal defect, Atrial se...	OMIM:201000
Cardiomyopathy, Dilated, 1R	Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent...	OMIM:613424
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
3Mc Syndrome 1	Coronal craniosynostosis, Conductive hearing impairment, Cleft lip, Ventricular septal defect, At...	OMIM:257920
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter...	OMIM:602482
American Trypanosomiasis	Myocarditis, Edema, Arrhythmia, Periorbital edema, Cardiomyopathy, Lymphadenopathy, Congestive he...	ORPHA:3386
Congenital Disorder Of Glycosylation, Type Iig	Cleft palate, Narrow mouth, Thoracic scoliosis, Smooth philtrum, Kyphoscoliosis, Camptodactyly, C...	OMIM:611209
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:120433
Isotretinoin Syndrome	Sacral dimple, Cleft palate, Abnormality of the outer ear, Spina bifida occulta, Micrognathia, Mi...	ORPHA:2305
Cholestasis-Lymphedema Syndrome	Portal hypertension, Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system...	ORPHA:1414
Osteopathia Striata With Cranial Sclerosis	Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Overfolded...	OMIM:300373
Sprengel Deformity	Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif...	OMIM:184400
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Fountain Syndrome	Craniofacial hyperostosis, Pectus excavatum, Scoliosis, Abnormal palate morphology, Spina bifida,...	ORPHA:3219
Acrofacial Dysostosis, Palagonia Type	Low-set ears, Scoliosis, Oligodontia, Short neck, Unilateral cleft lip, Posteriorly rotated ears,...	ORPHA:1787
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Butterfly vertebrae, Low-set ears, Esophageal atresia, Retrognathia, Duodenal a...	OMIM:619227
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology	OMIM:105805
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Nasolacrimal Duct Cyst	Narrow palpebral fissure, Abnormal lacrimal sac morphology, Periorbital edema, Dacryocystitis, Ce...	ORPHA:141083
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vert...	OMIM:608681
Exfoliation Syndrome	Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm...	OMIM:177650
Phaver Syndrome	Pulmonary artery atresia, Butterfly vertebrae, Coarctation of aorta, Conductive hearing impairmen...	ORPHA:2876
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante...	OMIM:614195
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Stapes ankylosis, Tetralogy of Fallot, Submucous cleft hard palate, Lobar holoprose...	OMIM:614701
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Oligodontia, Scoliosis, Ventricular septal defect, Atrial septal defect, Protein-losing enteropat...	OMIM:235510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Nonimmune hydrops fetalis, Facial telangiectasia in butterfly midface distribution, Epicanthus, T...	OMIM:137940
Congenital Microcoria	Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,...	ORPHA:566
Congenital Heart Defects, Multiple Types, 5	Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub...	OMIM:617912
Angioedema, Hereditary, 5	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619361
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Synostosis of carpal bones, Abnormal thorax morphology, Spina bifida occu...	OMIM:102510
Spondylocostal Dysostosis 3, Autosomal Recessive	Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in...	OMIM:609813
Arthrogryposis, Distal, Type 2A	Scoliosis, Flexion contracture of finger, Hearing impairment, Shoulder flexion contracture, Abnor...	OMIM:193700
Lacrimal Duct Defect	Lacrimal duct atresia, Periorbital edema, Dacryocystitis, Conjunctivitis, Dacryocystocele	OMIM:149700
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Coarctation of aorta, Atrial septal defect, Posteriorly rotated ears, Sacral dimple...	OMIM:615502
Lymphatic Malformation 1	Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Cellulitis, Hypoplasia of lymphat...	OMIM:153100
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Angioedema, Hereditary, 8	Laryngeal edema, Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619367
Three M Syndrome 1	Pectus excavatum, Short neck, Increased vertebral height, Short ribs, Mandibular prognathia, Scap...	OMIM:273750
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels	OMIM:153200
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Alagille Syndrome	Protruding ear, Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery sten...	ORPHA:52
Catel-Manzke Syndrome	Chronic otitis media, Low-set, posteriorly rotated ears, Pectus excavatum, Scoliosis, Camptodacty...	ORPHA:1388
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Iris coloboma	OMIM:613702
Lymphatic Malformation 3	Lymphedema, Cellulitis	OMIM:613480
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Scoliosis, Ventricular septal defect, Atrial septal defect, Narrow mouth, Thin vermilion border, ...	OMIM:617360
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Camptodactyly of finger, Scoliosis, Abnormal pulmonary valve morphology, Te...	ORPHA:1507
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Arthrogryposis multiplex congenita, Subdural hemorrhage, Abnormal pinna morphology, Sa...	OMIM:618291
Carey-Fineman-Ziter Syndrome 2	Low-set ears, Scoliosis, Protruding ear, Posteriorly rotated ears, High, narrow palate, Dental cr...	OMIM:619941
Cronkhite-Canada Syndrome	Cataract, Lymphedema, Aplasia/Hypoplasia of the eyebrow, Splenomegaly	ORPHA:2930
Waardenburg Syndrome, Type 2E	Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a...	OMIM:611584
Angioedema, Hereditary, 4	Laryngeal edema, Facial edema, Angioedema	OMIM:619360
Larsen Syndrome	Spondylolysis, Scoliosis, Ventricular septal defect, Atrial septal defect, Hearing impairment, Cl...	OMIM:150250
Lymphedema, Primary, With Myelodysplasia	Epicanthus, Lymphedema, Cellulitis	OMIM:614038
Heart Defects-Limb Shortening Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal mitral valve morphology, Death in infan...	ORPHA:1354
Facial Spasm	Anisocoria	OMIM:134300
Spondylosis, Cervical	Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta	OMIM:184300
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Stroke, Repeated pneumothoraces, Scoliosis, Atelectasis, ...	ORPHA:536467
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A...	ORPHA:860
Melkersson-Rosenthal Syndrome	Facial palsy, Periorbital edema, Lymphadenopathy, Edema	ORPHA:2483
Intellectual Developmental Disorder, Autosomal Recessive 73	Low-set ears, Scoliosis, Ventricular septal defect, Posteriorly rotated ears, Widely spaced teeth...	OMIM:619717
Corneal Dystrophy, Posterior Polymorphous, 3	Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy	OMIM:609141
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Lethal Kniest-Like Dysplasia	Low-set ears, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, Abno...	ORPHA:2347
Proteasome-Associated Autoinflammatory Syndrome 3	Lipodystrophy, Periorbital edema, Lymphadenopathy, Flexion contracture, Conjunctivitis, Splenomeg...	OMIM:617591
Velocardiofacial Syndrome	Pulmonary artery atresia, Open mouth, Retrognathia, Abnormality of the ear, Right aortic arch wit...	OMIM:192430
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Prominent antitragus, High palate, Dextrocardia, Myelomeningoc...	ORPHA:2437
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac...	OMIM:618594
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Coarctation of aorta, Spina bifida, Abno...	ORPHA:1120
Robinow Syndrome, Autosomal Recessive 1	Scoliosis, Nephrocalcinosis, Absent uvula, Bifid tongue, Hydronephrosis, Thoracic hemivertebrae, ...	OMIM:268310
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Epicanthus, Hydrops fetalis, Upslanted palpebral fissure, Omphalocele, Atrial flutter, Lymphedema...	OMIM:601927
Solar Urticaria	Syncope, Periorbital edema, Edema, Angioedema	ORPHA:97230
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect	ORPHA:1937
Distal Deletion 17Q	Abnormality of the philtrum, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the uvula, ...	ORPHA:1597
Cholestasis-Lymphedema Syndrome	Lymphedema, Splenomegaly	OMIM:214900
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Myasthenic Syndrome, Congenital, 8	Weakness of facial musculature, Ptosis	OMIM:615120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Joint stiffness, Protruding ear, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1166
Classical-Like Ehlers-Danlos Syndrome Type 1	Stroke, Spina bifida occulta, Joint hyperflexibility, Precocious atherosclerosis, Joint hypermobi...	ORPHA:230839
Deafness-Ear Malformation-Facial Palsy Syndrome	Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a...	ORPHA:3232
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints, Sacral dimple, Anencephaly, Ab...	OMIM:182940
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Richieri-Costa/Guion-Almeida Syndrome	Pectus excavatum, Mandibular prognathia, Cleft palate, Hearing impairment, Spina bifida occulta, ...	OMIM:268850
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Microspherophakia, Deep anterior chamber	OMIM:251750
Autosomal Dominant Hyper-Ige Syndrome	Craniosynostosis, Recurrent respiratory infections, Chronic otitis media, Scoliosis, Abnormality ...	ORPHA:2314
Proteasome-Associated Autoinflammatory Syndrome 2	Lipodystrophy, Periorbital edema, Lymphadenopathy	OMIM:618048
Alg3-Cdg	Macroglossia, High palate, Coarctation of the descending aortic arch, Abnormal pinna morphology, ...	ORPHA:79321
Marcus Gunn Phenomenon	Congenital ptosis, Unilateral ptosis	OMIM:154600
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Scoliosis, Short neck, Broad philtrum, Low posterior hairline,...	ORPHA:1394
Lymphedema-Distichiasis Syndrome	Nonimmune hydrops fetalis, Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasi...	OMIM:153400
Proximal 16P11.2 Microdeletion Syndrome	Syringomyelia, Craniosynostosis, Scoliosis, Conductive hearing impairment, Dextrocardia, Pyloric ...	ORPHA:261197
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Distal Deletion 10Q	Craniosynostosis, Pectus excavatum, Low-set ears, Lumbar hyperlordosis, Anal atresia, Protruding ...	ORPHA:96148
Zimmermann-Laband Syndrome 3	High palate, Bifid uvula, Kyphosis, Gingival overgrowth, Patent ductus arteriosus, Flexion contra...	OMIM:618658
Schinzel-Giedion Syndrome	Scoliosis, Abnormal cochlea morphology, Abnormal clavicle morphology, Large earlobe, Broad alveol...	ORPHA:798
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu...	ORPHA:2790
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Increased nuchal translucency, Low-set ears, Scoliosis, Coarctation of aorta, Anteriorly placed a...	OMIM:618494
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Lymphedema	OMIM:607115
Angioedema, Hereditary, 7	Facial edema, Angioedema	OMIM:619366
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen	ORPHA:33276
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Scoliosis, Low-set, posteriorly rotated ears, Camptodactyly of f...	ORPHA:2635
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Intracranial hemorrhage, Lymphadenopathy, Lymphedema, Splenomegaly	ORPHA:3226
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs...	ORPHA:64755
Spondylocostal Dysostosis 5	Syringomyelia, Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missi...	OMIM:122600
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Atrial sep...	OMIM:253300
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Pectus excavatum, Tooth agenesis, Abnormal palate morphology, ...	ORPHA:1786
2Q24 Microdeletion Syndrome	Cataract, Microphthalmia, Abnormality iris morphology	ORPHA:1617
Short-Rib Thoracic Dysplasia 12	Atelectasis, Median cleft lip and palate, Ventricular septal defect, Patent foramen ovale, Lobula...	OMIM:269860
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Hypoplastic Left Heart Syndrome 2	Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect	OMIM:614435
Anterior Segment Dysgenesis 7	Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,...	OMIM:269400
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension, Lymphedema	OMIM:152900
Myasthenic Syndrome, Congenital, 15	Multiple joint contractures, Ptosis	OMIM:616227
Corneal Dystrophy, Posterior Polymorphous, 1	Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,...	OMIM:122000
Axenfeld-Rieger Syndrome, Type 1	Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia...	OMIM:180500
Genitopalatocardiac Syndrome	Low-set ears, Right aortic arch, Ventricular septal defect, Cleft palate, Double outlet right ven...	OMIM:231060
Rhizomelic Chondrodysplasia Punctata	Scoliosis, Abnormality of the dentition, Spina bifida occulta, Epiphyseal stippling, Limitation o...	ORPHA:177
Ventricular Septal Defect 3	Ventricular septal defect, Atrial septal defect	OMIM:614432
Isolated Klippel-Feil Syndrome	Abnormal sacrum morphology, Scoliosis, Anal atresia, Spina bifida, Short neck, Abnormality of the...	ORPHA:2345
Atelosteogenesis, Type Ii	Thoracic hypoplasia, Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Pulmon...	OMIM:256050
Bronchogenic Cyst	Syringomyelia, Abnormal pericardium morphology, Atelectasis, Abnormality of the neck, Abnormal pl...	ORPHA:2357
Short Syndrome	Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ...	ORPHA:3163
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Scoliosis, Atrial septal defect, Cleft palate, Sprengel anomaly, Cleft upper lip, Short neck, Low...	OMIM:213980
Robinow Syndrome	Fused thoracic vertebrae, Scoliosis, Tooth malposition, Ventricular septal defect, Atrial septal ...	ORPHA:97360
German Syndrome	Camptodactyly of finger, Abnormal eyebrow morphology, Synophrys, Downslanted palpebral fissures, ...	ORPHA:2077
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Low-set, posteriorly rotated ears, Downturned corners of mouth, Spi...	ORPHA:1185
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology...	ORPHA:54
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Scoliosis, Spina bifida occulta, Spina bifida	ORPHA:64754
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles,...	ORPHA:3216
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Short neck, Ventricular septal defect, Platyspondyly, Abnormal rib morphology, Down...	ORPHA:93267
Acrodysplasia Scoliosis	Scoliosis, Spina bifida occulta, Vertebral segmentation defect	ORPHA:2956
Congenital Rubella Syndrome	Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi...	ORPHA:290
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Microcornea	ORPHA:231736
Noonan Syndrome With Multiple Lentigines	Pectus excavatum, Scoliosis, Low-set, posteriorly rotated ears, Severe sensorineural hearing impa...	ORPHA:500
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma	OMIM:616722
Melkersson-Rosenthal Syndrome	Facial palsy, Facial edema	OMIM:155900
Transaldolase Deficiency	Low-set ears, Coarctation of aorta, Short neck, Ventricular septal defect, Atrial septal defect, ...	OMIM:606003
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Amoebic Keratitis	Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta...	ORPHA:67043
Klippel-Feil Syndrome 2, Autosomal Recessive	Scoliosis, Conductive hearing impairment, Short neck, Abnormal pinna morphology, Ventricular sept...	OMIM:214300
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid...	ORPHA:90646
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Synophrys, Polyhydramnios, Lymphedema, Upslanted palpebral fissure	OMIM:618154
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Tethered cord, Spina bifida occulta	OMIM:615281
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis	OMIM:610023
Atrial Septal Defect 2	Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula...	OMIM:607941
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro...	ORPHA:998
Multiple Pterygium Syndrome, Escobar Variant	Scoliosis, Long clavicles, Cleft palate, Narrow mouth, Down-sloping shoulders, Camptodactyly of t...	OMIM:265000
Nemaline Myopathy 9	High palate, Scoliosis, Ventricular septal defect, Cleft palate, Narrow chest, Micrognathia, Arth...	OMIM:615731
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Carious teeth	OMIM:101805
Distal Triplication 15Q	Scoliosis, Atrial septal defect, Hypoplastic aortic arch, Abnormal heart morphology, Cupped ear, ...	ORPHA:314588
Craniosynostosis 6	Craniosynostosis, Bicoronal synostosis, Scoliosis, Right unilambdoid synostosis, Spina bifida occ...	OMIM:616602
Zimmermann-Laband Syndrome 1	Scoliosis, Cardiomyopathy, Hearing impairment, Aortic root aneurysm, Downturned corners of mouth,...	OMIM:135500
Myasthenic Syndrome, Congenital, 18	Knee flexion contracture, Ptosis	OMIM:616330
Rubinstein-Taybi Syndrome 1	Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Perimembranou...	OMIM:180849
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Scoliosis, Abnormality of the dentition, Abnormal rib morphology, Pe...	ORPHA:3268
Dubowitz Syndrome	Scoliosis, Protruding ear, Malabsorption, Hearing impairment, Rectal prolapse, Anal stenosis, Low...	ORPHA:235
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo...	OMIM:616892
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Scoliosis, Persistence of primary teeth, M...	OMIM:265900
Milroy Disease	Epicanthus, Lymphedema, Cellulitis, Predominantly lower limb lymphedema, Pedal edema	ORPHA:79452
Weill-Marchesani Syndrome 4	Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Scoliosis, Retrognathia, Protruding ear, Bifid uvula, Ventricular septal defe...	OMIM:301030
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly	OMIM:109120
1Q21.1 Microdeletion Syndrome	High palate, Scoliosis, Hydrocephalus, Ankyloglossia, Interrupted aortic arch, Long philtrum, Sen...	ORPHA:250989
Neuronal Intranuclear Inclusion Disease	Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies	ORPHA:2289
Thymic Tumor	Cardiac arrest, Edema, Neoplasm of the thymus, Palpebral edema, Mediastinal lymphadenopathy, Peri...	ORPHA:100100
Poland Syndrome	Dextrocardia, Short ribs, Hemivertebrae, Sprengel anomaly, Rib fusion	OMIM:173800
Tricuspid Atresia	Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov...	ORPHA:1209
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Pallister-Hall Syndrome	Preductal coarctation of the aorta, Anal atresia, Anteriorly placed anus, Ventricular septal defe...	OMIM:146510
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Chromosome 22Q11.2 Duplication Syndrome	Low-set ears, High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Micrognathia	OMIM:608363
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:300915
Mucopolysaccharidosis Type 7	Inguinal hernia, Hydrops fetalis, Umbilical hernia, Lymphedema, Corneal opacity, Splenomegaly, As...	ORPHA:584
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity	Limited elbow extension, High palate, Scoliosis, Kyphoscoliosis, Abnormal heart morphology, Heari...	ORPHA:93359
Loeys-Dietz Syndrome 4	Scoliosis, Broad uvula, Bifid uvula, Arterial tortuosity, Spondylolisthesis, Pneumothorax, Mitral...	OMIM:614816
Osteogenesis Imperfecta, Type I	Finger joint hypermobility, Aortic aneurysm, Osteopenia, Hearing impairment, Biconcave flattened ...	OMIM:166200
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Cog1-Cdg	Rib fusion, Low-set, posteriorly rotated ears, Butterfly vertebrae, High palate, Broad neck, Shor...	ORPHA:263508
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, High palate, Thoracic kyphosis, Ovoid vertebral bodies, Short nec...	ORPHA:163649
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Lenz-Majewski Hyperostotic Dwarfism	Cleft palate, Microglossia, Knee flexion contracture, Prominent scalp veins, Hyperextensibility o...	OMIM:151050
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Chylous Ascites	Lymphedema, Ascites	ORPHA:1160
Dahlberg-Borer-Newcomer Syndrome	Cataract, Lymphedema, Telecanthus	ORPHA:1563
Proteus Syndrome	Downslanted palpebral fissures, Lipoma, Limbal dermoid, Multiple lipomas, Splenomegaly, Ptosis, L...	OMIM:176920
Septopreoptic Holoprosencephaly	Coarctation of aorta, Anteriorly placed anus, Ethmoidal encephalocele, Abnormal rib morphology, A...	ORPHA:280195
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De...	OMIM:617315
Megalocornea-Intellectual Disability Syndrome	Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morphology, Hypoplasia of the ...	ORPHA:2479
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Generalized osteosclerosis, Short ribs, Advanced ossification...	OMIM:215045
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de...	OMIM:617478
Fibrochondrogenesis 1	Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Cleft palate, Narrow mouth, Patent for...	OMIM:228520
3Mc Syndrome	Craniosynostosis, Low-set ears, Scoliosis, Limited pronation/supination of forearm, Prominent coc...	ORPHA:293843
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Noonan Syndrome 13	Blue irides, Epicanthus, Mitral regurgitation, Downslanted palpebral fissures, Broad eyebrow, Hig...	OMIM:619087
Cantu Syndrome	Epicanthus, Curly eyelashes, Long eyelashes, Umbilical hernia, Pericardial effusion, Lymphedema	OMIM:239850
Frontometaphyseal Dysplasia	Oligodontia, Scoliosis, Camptodactyly of finger, Bifid uvula, Abnormal heart morphology, Hearing ...	ORPHA:1826
Craniofacioskeletal Syndrome	Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Shield chest, Interrup...	OMIM:300712
Waardenburg Syndrome, Type 4A	Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro...	OMIM:277580
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Wolf-Hirschhorn Syndrome	Chronic otitis media, Aplasia/Hypoplasia of the lungs, Scoliosis, Atrial septal defect, Hearing i...	ORPHA:280
Lymphatic Malformation 4	Lymphedema, Pedal edema, Cellulitis	OMIM:615907
Coats Disease	Leukocoria	OMIM:300216
Chondrodysplasia-Difference Of Sex Development Syndrome	Hypoplasia of the iris, Chorioretinal coloboma	ORPHA:1422
Stickler Syndrome, Type I	Pectus excavatum, Scoliosis, Conductive hearing impairment, Joint stiffness, Bifid uvula, Submuco...	OMIM:108300
Peters Anomaly	Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ...	ORPHA:708
Choanal Atresia And Lymphedema	Lymphedema, Pericardial effusion	OMIM:613611
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Lymphedema	ORPHA:3137
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Oculopharyngeal Muscular Dystrophy	Facial palsy, Progressive ptosis, Ptosis	OMIM:164300
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym...	OMIM:184460
Charge Syndrome	Abnormal soft palate morphology, Scoliosis, Tetralogy of Fallot, Interrupted aortic arch, Hearing...	ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Reduced bone mineral density, Coarctation of aorta, Joint stiff...	OMIM:620210
Primary Ciliary Dyskinesia	Situs inversus totalis, Recurrent sinopulmonary infections, Chronic otitis media, Atrial situs am...	ORPHA:244
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Pulmonary lymphangiectasia, Polyhydramnios, Downslanted palpebral fissures, Thyr...	OMIM:235255
Cardiospondylocarpofacial Syndrome	Scoliosis, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect, Carpal synos...	OMIM:157800
Heterotaxy, Visceral, 7, Autosomal	Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri...	OMIM:616749
Monosomy 18P	Hypertension, Epicanthus, Lymphedema, Ptosis	ORPHA:1598
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Limitation of joint mobility	ORPHA:2840
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Delayed calcaneal ossification, Bifid uvula...	OMIM:183900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Camptodactyly of finger, Bifid uvula, Irregular vertebral endplates, Joint contractu...	OMIM:612350
Cerebrocostomandibular Syndrome	Scoliosis, Ventricular septal defect, Atrial septal defect, Cleft palate, Carious teeth, 11 pairs...	OMIM:117650
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency, Hearing impairment	ORPHA:2291
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology	ORPHA:782
Zttk Syndrome	Scoliosis, Protruding ear, Bifid uvula, Ventricular septal defect, Atrial septal defect, Narrow m...	OMIM:617140
Leopard Syndrome 1	Pectus excavatum, Low-set ears, Protruding ear, Short neck, Pulmonic stenosis, Missing ribs, Post...	OMIM:151100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Ventricular septal defect, Multiple prenatal fractures, Cleft palate, Decre...	OMIM:616897
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Widely spaced teeth, Hyperplasia of the maxilla, Cl...	OMIM:617616
Baller-Gerold Syndrome	Bicoronal synostosis, Scoliosis, Bifid uvula, Abnormal heart morphology, Cleft palate, Narrow mou...	OMIM:218600
Brachyolmia Type 1, Hobaek Type	Scoliosis, Short neck, Kyphosis, Osteopenia, Pectus carinatum, Squared-off platyspondyly, Back pa...	OMIM:271530
Igg4-Related Ophthalmic Disease	Abnormal morphology of bony orbit of skull, Periorbital edema, Abnormality of the orbital region,...	ORPHA:449563
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypoplasia of the fovea, Freckles in sun-exposed areas, Albinism, Hypopigmentation o...	OMIM:203200
Fryns Syndrome	Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Low-set, posteriorly rotated ears,...	ORPHA:2059
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Emanuel Syndrome	Scoliosis, Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect, Submu...	ORPHA:96170
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Malar flatteni...	ORPHA:79113
Short Stature And Facioauriculothoracic Malformations	Pectus excavatum, Abnormality of the odontoid process, Low-set ears, High palate, Short neck, Ven...	OMIM:609654
Lymphedema-Distichiasis Syndrome	Cataract, Corneal erosion, Ectropion, Distichiasis, Arrhythmia, Conjunctivitis, Predominantly low...	ORPHA:33001
Diamond-Blackfan Anemia 1	Bifid thoracic vertebrae, High palate, Coarctation of aorta, Hypoplastic coccygeal vertebrae, Ret...	OMIM:105650
Coenzyme Q10 Deficiency, Primary, 6	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ...	OMIM:614650
Aorta Coarctation	Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H...	ORPHA:1457
Woolly Hair	Cataract, Hypopigmentation of hair, Abnormal pupil morphology	ORPHA:170
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract, Inguinal hernia, Epicanthus, Umbilical hernia, Ptosis	ORPHA:1373
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	High-frequency hearing impairment, Recurrent bronchitis, Otitis media, Atelectasis	OMIM:300455
Waldenström Macroglobulinemia	Vasculitis, Periorbital edema, Gastrointestinal hemorrhage, Lymphadenopathy, Congestive heart fai...	ORPHA:33226
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Scoliosis, Spina bifida occulta, Lambdoidal craniosynostosis	OMIM:618736
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Woolly Hair Nevus	Persistent pupillary membrane, Patchy hypopigmentation of hair, Heterochromia iridis	ORPHA:79414
Loeys-Dietz Syndrome 5	Bifid uvula, Ventricular septal defect, Atrial septal defect, Osteoarthritis, Cleft palate, Spond...	OMIM:615582
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Pectus excavatum, Low-set ears, Retrognathia, High palate, Broad neck, Short neck, Thoracolumbar ...	OMIM:300472
Campomelia, Cumming Type	Lymphedema, Polysplenia	OMIM:211890
Nephroblastoma	Aniridia	ORPHA:654
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Joint stiffness, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bodi...	OMIM:616583
Yellow Nail Syndrome	Pulmonary arterial hypertension, Lymphedema, Hypoplasia of lymphatic vessels	ORPHA:662
Ring Chromosome 22 Syndrome	Epicanthus, Edema, Thick eyebrow, Lymphedema, Pleural effusion	ORPHA:1446
Lateral Meningocele Syndrome	Scoliosis, Smooth philtrum, Conductive hearing impairment, Short neck, Malar flattening, Hyperlor...	ORPHA:2789
Megalocornea-Mental Retardation Syndrome	Megalocornea, Hypoplasia of the iris, Iridodonesis	OMIM:249310
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Cervical lymphadenopathy	ORPHA:514
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Torticollis, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Lissencephaly 2	Lymphedema	OMIM:257320
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Micrognathia	ORPHA:1514
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Coarctation of aorta, Anteriorly placed anus, Bifid uvula, Tetralogy of Fallot, Ven...	OMIM:617159
Noonan Syndrome 2	Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Cardiomyopathy, H...	OMIM:605275
Deafness, X-Linked 2	Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu...	OMIM:304400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber...	OMIM:612158
Distal Deletion 6P	Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia...	ORPHA:96125
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Recombinant Chromosome 8 Syndrome	Pectus excavatum, Scoliosis, Low-set ears, Abnormality of the dentition, Camptodactyly, Tetralogy...	OMIM:179613
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Mosaic Trisomy 14	High palate, Low-set, posteriorly rotated ears, Short neck, Cleft palate, Abnormal rib morphology...	ORPHA:1703
Craniofaciofrontodigital Syndrome	Stroke, Scoliosis, Ventricular septal defect, Atrial septal defect, Prominent median palatal raph...	ORPHA:363705
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Death in childhood, Retrognathia, Bifid uvula, Short neck, Hydrocephalus, Umbilical hernia, Ventr...	OMIM:612938
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Cleft palate, Platyspondyly, Sensorineural hearing impairment, Pierre-Robin sequence, Premature o...	OMIM:184840
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Grayish enamel, Scoliosis, Cervical subluxation, Widely spaced teeth, Hearin...	OMIM:253000
Multiple Synostoses Syndrome 1	Enlargement of the costochondral junction, Pectus excavatum, Conductive hearing impairment, Stape...	OMIM:186500
Congenital Heart Defects And Skeletal Malformations Syndrome	Repeated pneumothoraces, Pectus excavatum, Scoliosis, Coarctation of aorta, Narrow maxilla, Aorti...	OMIM:617602
Femoral-Facial Syndrome	Scoliosis, Ventricular septal defect, Cleft palate, Smooth philtrum, Sprengel anomaly, Truncus ar...	OMIM:134780
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Scoliosis, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect,...	OMIM:617506
Congenital Primary Aphakia	Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M...	ORPHA:83461
2p15-16.1 microdeletion syndrome	Downslanted palpebral fissures, Camptodactyly of finger, Telecanthus, Ptosis	DECIPHER:70
20Q11.2 Microduplication Syndrome	Epicanthus, Inguinal hernia, Downslanted palpebral fissures, Periorbital edema, Underdeveloped su...	ORPHA:363659
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,...	OMIM:609223
Diabetic Embryopathy	Spinal dysraphism, Abnormal sacrum morphology, Low-set, posteriorly rotated ears, Tetralogy of Fa...	ORPHA:1926
Sweeney-Cox Syndrome	Median cleft palate, Uplifted earlobe, Low-set ears, Anal atresia, High palate, Broad neck, Wide ...	OMIM:617746
Fanconi Anemia, Complementation Group B	Low-set ears, Esophageal atresia, Coarctation of aorta, Duodenal atresia, Short neck, Tracheoesop...	OMIM:300514
Mucopolysaccharidosis, Type Ix	Finger joint hypermobility, Bifid uvula, Lumbar scoliosis, Hyperextensibility at wrists, Hyperext...	OMIM:601492
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Bifid uvula, Tetralogy of Fallo...	OMIM:607872
Lateral Meningocele Syndrome	Scoliosis, Ventricular septal defect, Cleft palate, Smooth philtrum, Conductive hearing impairmen...	OMIM:130720
Legg-Calvé-Perthes Disease	Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L...	OMIM:617300
Aneurysm, Intracranial Berry, 12	Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu...	OMIM:618734
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Hypoplastic aortic arch, Atrioventricular canal defect, Complete atrio...	ORPHA:508488
Nivelon-Nivelon-Mabille Syndrome	Hypoplasia of the iris	OMIM:600092
Pierson Syndrome	Cataract, Hypoplasia of the ciliary body, Microcoria, Microphthalmia, Hypoplasia of the iris, Pos...	OMIM:609049
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, High palate, Ventricular septal defect, Deep philtrum, Everted...	ORPHA:261120
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry...	ORPHA:1473
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid	OMIM:613001
16P13.11 Microduplication Syndrome	Craniosynostosis, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal...	ORPHA:261243
Spondyloepiphyseal Dysplasia Tarda	Scoliosis, Localized osteoporosis, Cleft palate, Hump-shaped mound of bone in central and posteri...	ORPHA:93284
Griscelli Syndrome Type 1	Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair	ORPHA:79476
Posterior Polymorphous Corneal Dystrophy	Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,...	ORPHA:98973
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Craniosynostosis, Low-set ears, Anal atresia, Lop ear, Atrial septal defect, Peripheral pulmonary...	OMIM:300707
Spondylo-Ocular Syndrome	Low-set ears, Thoracic kyphosis, Short neck, Ventricular septal defect, Abnormal antihelix morpho...	ORPHA:85194
Digeorge Syndrome	Scoliosis, Atelectasis, Right aortic arch with mirror image branching, Tetralogy of Fallot, Bifid...	OMIM:188400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Scoliosis, Long clavicles, Ventricular septal defect, Atrial septal defect, Abnormality of the co...	ORPHA:96334
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Atelectasis, Recurrent lower respiratory tract infections, Recurre...	OMIM:616726
Cluster Headache, Familial	Edema, Ptosis	OMIM:119915
Oculocutaneous Albinism Type 3	Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas...	ORPHA:79433
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Periorbital edema, Fasciitis, Lymphadenopathy, Cellulitis, Conjunctivitis, Pericardit...	ORPHA:32960
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Fg Syndrome Type 1	Generalized joint laxity, Atrial septal defect, Cupped ear, Mitral valve prolapse, Malrotation of...	ORPHA:93932
Duane-Radial Ray Syndrome	Anal atresia, Scoliosis, Ventricular septal defect, Slit-like opening of the exterior auditory me...	OMIM:607323
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Bifid uvula	ORPHA:2669
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy...	OMIM:601493
Melorheostosis	Atypical scarring of skin, Lymphedema	ORPHA:2485
Pseudotrisomy 13 Syndrome	Encephalocele, Low-set ears, Anal atresia, Coarctation of aorta, Dextrocardia, Median cleft lip a...	OMIM:264480
Atopic Keratoconjunctivitis	Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Corneal opacity, Abnormal e...	ORPHA:163934
Nephrotic Syndrome, Type 3	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:610725
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Arthrogryposis, Distal, Type 3	Down-sloping shoulders, Pectus excavatum, Scoliosis, Lumbar hyperlordosis, High palate, Bifid uvu...	OMIM:114300
Oculocutaneous Albinism Type 1	Blue irides, Hypoplasia of the fovea, Iris hypopigmentation, Generalized hypopigmentation, Genera...	ORPHA:352731
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Tongue edema, Palpebral edema, Abnor...	ORPHA:100057
Multiple Sulfatase Deficiency	Corneal opacity, Periorbital edema, Splenomegaly	OMIM:272200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Lymphedema, Hypertrophic cardiomyopathy	ORPHA:79279
Spastic Paraplegia 81, Autosomal Recessive	Sensorineural hearing impairment, Bifid uvula, Cleft palate	OMIM:618768
Fountain Syndrome	Facial edema	OMIM:229120
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Low-set ears, Coarctation of aorta, Ventricular septal defect, Atr...	OMIM:600987
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Nonimmune hydrops fetalis, Absent eyelashes, Palpebral edema, Absent eyebrow, Predominantly lower...	OMIM:607823
Kbg Syndrome	Oligodontia, Vertebral fusion, Thoracic kyphosis, Protruding ear, Short neck, Posteriorly rotated...	OMIM:148050
Thanatophoric Dysplasia	Increased nuchal translucency, Low-set ears, Joint stiffness, Hydrocephalus, Atrial septal defect...	ORPHA:2655
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Corneal opacity, Developmental glaucoma	ORPHA:1064
Noonan Syndrome 10	Increased nuchal translucency, Pectus excavatum, Scoliosis, Coarctation of aorta, Low-set ears, H...	OMIM:616564
Capillary Malformation-Arteriovenous Malformation	Nonimmune hydrops fetalis, High-output congestive heart failure, Facial capillary hemangioma, Tel...	ORPHA:137667
Waardenburg Syndrome, Type 1	Blue irides, Hypoplastic iris stroma, Premature graying of hair, White eyelashes, Partial albinis...	OMIM:193500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Arteriovenous malformation, Mandibular prognathia, Abnormal ao...	ORPHA:1110
Oculofaciocardiodental Syndrome	Oligodontia, Scoliosis, Tooth malposition, Solitary median maxillary central incisor, Hearing imp...	ORPHA:2712
Double Outlet Right Ventricle	Pulmonary artery atresia, Coarctation of aorta, Abnormality of cartilage of external ear, Hypopla...	ORPHA:3426
Familial Exudative Vitreoretinopathy	Cataract, Vitreous hemorrhage, Macular telangiectasia, Lymphedema, Retinal neovascularization, Ma...	ORPHA:891
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Grayish enamel, Scoliosis, Cervical subluxation, Widely spaced teeth, Hearin...	OMIM:253010
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Coarctation of aorta, Interrupted aortic arch	OMIM:107550
Thanatophoric Dysplasia Type 2	Encephalocele, Increased nuchal translucency, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atr...	ORPHA:93274
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Intracr...	ORPHA:163979
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate	ORPHA:506353
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Oligodontia, Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Atrioventri...	ORPHA:453499
Poland Syndrome	Scoliosis, Atrial septal defect, Asymmetry of the thorax, Finger symphalangism, Sprengel anomaly,...	ORPHA:2911
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Inguinal hernia, Polyhydramnios, Fetal ascites, Lymphedema	OMIM:620014
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Duane Retraction Syndrome	Camptodactyly, External ear malformation, Short neck, Low posterior hairline, Hearing impairment,...	ORPHA:233
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteolysis, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Osteoporosis, ...	ORPHA:371428
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Scoliosis, Kyphosis, Hearing impairment, Biconcave flattened verteb...	OMIM:166220
Lissencephaly 7 With Cerebellar Hypoplasia	Arthrogryposis multiplex congenita, Lymphedema	OMIM:616342
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Williams Syndrome	Stroke, Chronic otitis media, Scoliosis, Protruding ear, Tetralogy of Fallot, Abnormality of the ...	ORPHA:904
Lymphangioleiomyomatosis	Shagreen patch, Chylopericardium, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Ly...	ORPHA:538
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:1259
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Hearing impairment	OMIM:256200
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Brachyolmia, Maroteaux Type	Pectus excavatum, Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies	ORPHA:93302
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
Smith-Magenis Syndrome	Scoliosis, Abnormality of the dentition, Mandibular prognathia, Abnormal heart morphology, Hearin...	OMIM:182290
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Intellectual Developmental Disorder, X-Linked 90	High palate, Narrow chest, Bifid uvula	OMIM:300850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Low-set ears, Retrognathia, Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomen...	ORPHA:280679
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:613642
Branchiootic Syndrome	Conductive hearing impairment, Abnormality of the inner ear, Branchial fistula, Atresia of the ex...	ORPHA:52429
Microphthalmia, Syndromic 3	Esophageal atresia, Butterfly vertebrae, Vertebral fusion, Ventricular septal defect, Missing rib...	OMIM:206900
Limb Body Wall Complex	Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Cleft palate, Progres...	ORPHA:2369
Truncus Arteriosus	Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup...	ORPHA:3384
Left Ventricular Noncompaction 10	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615396
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy	OMIM:617772
Piebald Trait	Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr...	OMIM:172800
Arterial Tortuosity Syndrome	Pectus excavatum, Scoliosis, High palate, Aortic root aneurysm, Generalized arterial tortuosity, ...	OMIM:208050
Deafness, Conductive, With Malformed External Ear	Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin...	OMIM:221300
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal pulmonary valve morphology, Scoliosis, Atelectasis, Tetralogy of F...	ORPHA:567
Chromosome 18Q Deletion Syndrome	Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Ventricular septal defect, Atrial septal defe...	OMIM:601808
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Recurrent respiratory infections, Atelectasis, Ventricular septal def...	OMIM:610978
Joubert Syndrome 14	Encephalocele, Open mouth, Low-set ears, Renal cyst, Meningocele, Malar flattening, Posteriorly r...	OMIM:614424
Adducted Thumbs Syndrome	Craniosynostosis, High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, A...	OMIM:201550
Ritscher-Schinzel Syndrome 1	Low-set ears, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Hydro...	OMIM:220210
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy...	OMIM:108900
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Donnai-Barrow Syndrome	Cataract, Hypoplasia of the iris, Iris coloboma	OMIM:222448
Lowry-Maclean Syndrome	Craniosynostosis, Midgut malrotation, Low-set ears, Coarctation of aorta, Retrognathia, Pyloric s...	ORPHA:2409
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Lymphadenopathy, Splenomegaly, Edema	OMIM:603552
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ...	ORPHA:895
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Low-set ears, Short neck, Short ribs, Deep philtrum, Severe platyspondyly, De...	OMIM:613320
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Platyspondyly, Abnormality of vertebral epiphysis morphology, Long ...	ORPHA:90653
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigm...	ORPHA:79435
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Platyspondyly, Delayed eruption of teeth, Sensorineural hearing impairment, Short p...	ORPHA:71267
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Protruding ear, Short neck, Posteriorly rotated ears, Mandibular prognathia, Death i...	OMIM:618622
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea...	OMIM:604169
You-Hoover-Fong Syndrome	Pectus excavatum, Coarctation of aorta, Accessory oral frenulum, Hearing impairment, Double aorti...	OMIM:616954
Myotubular Myopathy With Abnormal Genital Development	High palate, Retrognathia, Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hyperm...	OMIM:300219
Maternal Uniparental Disomy Of Chromosome X	Flexion contracture, Camptodactyly of finger, Congestive heart failure, Predominantly lower limb ...	ORPHA:261519
Branchiogenic-Deafness Syndrome	Abnormality of the middle ear ossicles, Trismus, Mixed hearing impairment, Submucous cleft hard p...	OMIM:609166
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Low-set ears, Coarctation of aorta, Short ribs, Pulmonary hypopla...	ORPHA:50945
Klippel-Trenaunay-Weber Syndrome	Lymphedema, Lymphangioma	OMIM:149000
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Hepatosplenomegaly, Epicanthus, Mitral regurgitation, Polyhydramnios, Downslanted palpebral fissu...	OMIM:613563

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