Not currently registered for phenotyping at IMPC

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

Gene Summary

forkhead box C2
MFH-1,  Hfhbf3,  Fkh14,  Mfh1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Hypoplastic iris st... OMIM:193510
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst OMIM:620086
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedem... ORPHA:568051
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Aniridia 3
Cataract, Aniridia OMIM:617142
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
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
Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Spondy... OMIM:617877
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Osteopetrosis, Spina bifida occulta, Delayed eruption of teeth... ORPHA:2780
Meige Disease
Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lymphedema, Pleur... ORPHA:90186
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Lymphedema, Pleural effusion, Splenomegaly ORPHA:545
Spondylocostal Dysostosis 4, Autosomal Recessive
Broad neck, Aplasia of posterior communicating artery, Pectus excavatum, Myelomeningocele, Hydroc... OMIM:613686
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Abnormal form of the ... ORPHA:2311
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema, Camptodactyly, Epicanthus,... OMIM:616006
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Chorioretinal coloboma, Patchy hypo- an... OMIM:601706
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti... OMIM:619165
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Lymphedema, Ptosis, Pulmonary lymphangiectasia, Cataract OMIM:247410
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Gms Syndrome
Rieger anomaly ORPHA:2090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Absent eyelashes, Abnormal... ORPHA:69735
White Forelock With Malformations
Abnormal palate morphology, Low-set, posteriorly rotated ears, Spina bifida occulta, Abnormal rib... ORPHA:2475
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Interrupted aortic arch, Wide anterior fontanel, ... OMIM:616920
Hydrops Fetalis
Polyhydramnios, Capillary leak, Abnormality of the lymphatic system, Lymphedema, Pleural effusion... ORPHA:1041
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Hearing impairment, Micr... ORPHA:1727
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation ORPHA:370097
Norrie Disease
Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L... OMIM:310600
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Decreased skull ossification, Abnormal sacrum morphology, Hea... ORPHA:1452
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:615779
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mullegama-Klein-Martinez Syndrome
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Scoliosis, Low-set ear... OMIM:301022
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Reduced bone mineral density, Low-set, posteriorly rotated ears, Short phi... ORPHA:2983
Femoral-Facial Syndrome
Orofacial cleft, Long penis, Polycystic kidney dysplasia, Microtia, Scoliosis, Low-set ears, Vert... ORPHA:1988
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Umbilical hernia, Long phi... ORPHA:2990
Ectropion, Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Eyelid retraction, ... ORPHA:182
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Lymphatic Malformation 6
Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effu... OMIM:616843
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Conjunctival hyperemia, Conjunctivitis, Periorbital edema, Cervical ... OMIM:142680
Arthrogryposis, Distal, Type 1C
Thin vermilion border, Retrognathia, Shoulder flexion contracture, Scoliosis, Elbow flexion contr... OMIM:619110
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Short philtrum, Spina bifida occul... ORPHA:949
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Lymphedema, Corneal opacity, Downslanted palpebral ... OMIM:152950
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M... OMIM:610202
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Agenesis of permanent teeth, Pulmoni... OMIM:201000
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153300
American Trypanosomiasis
Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Arrhythmia, Splenomegaly,... ORPHA:3386
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... ORPHA:141083
Fountain Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Spina bifida occulta, Abnormal form of the... ORPHA:3219
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Abnormal form of the vertebral bo... ORPHA:1787
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Lymphedema, Portal hypertension... ORPHA:1414
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,... OMIM:614195
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Microtia, Micrognathia, Cleft palate, Abnormality of the out... ORPHA:2305
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:120433
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Neck muscle hypopla... OMIM:184400
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Microtia, Glossoptosis, Left ventricular hypertrophy, Long philtrum, Butterfly ve... OMIM:611209
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Short ribs, Preductal coarctation of the... OMIM:215045
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Sensorineural hearing impairment, Pectus excavatum, Umbilical hernia, Narrow palate... OMIM:235510
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ... OMIM:300373
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
3Mc Syndrome 1
Atrial septal defect, Caudal appendage, Sacral dimple, Lambdoidal craniosynostosis, Patent ductus... OMIM:257920
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Aplasia/Hypo... ORPHA:2876
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre... OMIM:608681
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Scoliosis, Glossoptosis, Pectus excavatu... ORPHA:1388
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Absent eyelashes, Lymphedema, Absent eyebro... OMIM:137940
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Pectus carinatum, Hemivertebrae, Low-set ears, Vertebral clefting, Intesti... OMIM:614701
Lacrimal Duct Defect
Lacrimal duct atresia, Conjunctivitis, Dacryocystitis, Periorbital edema, Dacryocystocele OMIM:149700
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... OMIM:102510
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Flexion c... OMIM:193700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Abnormal pinna morphology, Kyphos... OMIM:618291
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Pectus carinatum, Pectus excavatum, Kyphosis, Death in infancy, Wide mouth,... ORPHA:1507
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior r... OMIM:265380
Facial Spasm
Anisocoria OMIM:134300
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Three M Syndrome 1
Increased vertebral height, Thick lower lip vermilion, Spina bifida occulta, Joint hypermobility,... OMIM:273750
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Low-set ears, Coarctatio... OMIM:615502
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Alagille Syndrome
Short philtrum, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bo... ORPHA:52
Angioedema, Hereditary, 8
Angioedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema OMIM:619367
Lymphatic Malformation 3
Cellulitis, Lymphedema OMIM:613480
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Microdontia, Low posterior hairline, Joint hypermobility, Short philtrum, Sc... OMIM:617360
Cronkhite-Canada Syndrome
Cataract, Lymphedema, Splenomegaly, Aplasia/Hypoplasia of the eyebrow ORPHA:2930
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Mixed hearing impairment, Repeated pneumothoraces, Pectus carinatum, Pectus excav... ORPHA:536467
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Pectus carinatum, Pectus excavatum, Joint hy... OMIM:150250
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Chronic otitis media, Vascular dilatation, Atelectasis, Delayed eruption of teeth, Sc... ORPHA:2314
Lymphedema, Primary, With Myelodysplasia
Cellulitis, Lymphedema, Epicanthus OMIM:614038
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Narrow chest, Abnormal form of the vertebral bodies, Kyphosi... ORPHA:1354
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Protruding ear, Increased overbite, Dental crowding, Scoliosis, Low-set ears... OMIM:619941
Angioedema, Hereditary, 4
Angioedema, Facial edema, Laryngeal edema OMIM:619360
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Melkersson-Rosenthal Syndrome
Edema, Facial palsy, Lymphadenopathy, Periorbital edema ORPHA:2483
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Lymphadenopathy, Splenomegaly, Lipodystrophy, Conjunctivitis, Flexion contracture, ... OMIM:617591
Czeizel-Losonci Syndrome
Hypoplastic helices, Dextrocardia, Spina bifida occulta, Low-set, posteriorly rotated ears, Hydro... ORPHA:2437
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Widely spaced teeth, Scoliosis, Low-set ears, Thick upper lip vermilion, Posteriorly ... OMIM:619717
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Telecanthus, Lymphedema, Upslanted palpebral fissure, Omphalocel... OMIM:601927
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Narrow chest, Wide anterior fontanel, Short ribs, Low-set ears, Abnorm... ORPHA:2347
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly OMIM:214900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Abnormal... ORPHA:1120
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Solar Urticaria
Angioedema, Syncope, Edema, Periorbital edema ORPHA:97230
Myasthenic Syndrome, Congenital, 8
Ptosis, Weakness of facial musculature OMIM:615120
Cerebrofaciothoracic Dysplasia
Bifid ribs, Low-set, posteriorly rotated ears, Narrow chest, Scoliosis, Hemivertebrae, Vertebral ... ORPHA:1394
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Recurrent otitis media, Scoliosis, Patent foramen ovale, Low-set ears, Incre... OMIM:618494
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Periorbital edema, Lipodystrophy OMIM:618048
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Abnormal vertebral morphology, Abnormal aortic valve morphology, Dextrocardia, Sen... ORPHA:261197
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Ectropion, Corneal ulceration, Predominantly lower limb lymphedema, C... OMIM:153400
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Hearing impairment, Cleft upper li... OMIM:268850
Distal Deletion 10Q
Protruding ear, Spina bifida occulta, Abnormality of the outer ear, High palate, Low-set ears, An... ORPHA:96148
Osteopenia, Neural tube defect, Coarctation of the descending aortic arch, Abnormal pinna morphol... ORPHA:79321
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Abnormal lower lip morphology, Vertebral segmentation defect, Abnormal aortic mor... ORPHA:1166
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Low-set, posteriorly rotated ears, Spina bifida occult... ORPHA:1786
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Con... ORPHA:3232
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the uvula, Abnormal form of the vertebra... ORPHA:1597
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Stroke, Precocious atherosclerosis, Mitral valve prolapse, Joint hypermobility ORPHA:230839
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Dental crowding, Microtia, Pectus excavatum, Tooth agenesis, Ne... OMIM:268310
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary a... OMIM:192430
Acrofacial Dysostosis, Catania Type
Webbed neck, Spina bifida occulta, Carious teeth, Micrognathia, Cleft palate OMIM:101805
Angioedema, Hereditary, 7
Angioedema, Facial edema OMIM:619366
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, Gingival overgrowth, High palate, Kyphosis, Bifid uvula, Flexion contr... OMIM:618658
Schinzel-Giedion Syndrome
Kyphoscoliosis, Retrognathia, Broad alveolar ridges, Wide mouth, Umbilical hernia, Broad ribs, Ab... ORPHA:798
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Low posterior hairline, Recurrent sinusitis, Joint hypermobility, Craniosynosto... OMIM:213980
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... ORPHA:2790
Becker Nevus Syndrome
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Lymphedema, Bone marrow hypocellularity, Splenomegaly, Intracranial hemorrhage ORPHA:3226
Bronchogenic Cyst
Abnormality of the neck, Syringomyelia, Bronchogenic cyst, Abnormal pulmonary thoracic imaging fi... ORPHA:2357
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short ribs, Intestinal malrotation, Hydrocephalus, Short ... OMIM:269860
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Lymphedema ORPHA:33276
Spondylocostal Dysostosis 5
Butterfly vertebrae, Syringomyelia, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Sup... OMIM:122600
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Increased intervertebral space, Scoliosis, Horizon... OMIM:256050
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Broad alveolar ridges, Dental crowding, Pulmonic stenos... ORPHA:97360
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Low-set, posteriorly ... ORPHA:2635
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema, Pulmonary arterial hypertension OMIM:152900
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Webbed neck, Abnormality of the ve... ORPHA:2345
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Epiphyseal stippling, Scoliosis, Limitation of joint mobility, Abnormality ... ORPHA:177
Myasthenic Syndrome, Congenital, 15
Ptosis, Multiple joint contractures OMIM:616227
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Oral ulcer, Ar... OMIM:620321
German Syndrome
Lymphedema, Synophrys, Camptodactyly of finger, Downslanted palpebral fissures, Abnormal eyebrow ... ORPHA:2077
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Microphthalmia, Cataract ORPHA:1617
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Low-set ears, Cleft upper lip, Micrognath... OMIM:231060
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Low-set, posteriorly rotated ears, Spina bifida occulta, Downturned... ORPHA:1185
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Hypoplasia of the fovea, Fr... ORPHA:54
Nevus Comedonicus Syndrome
Scoliosis, Abnormal vertebral morphology, Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Rubella Syndrome
Microphthalmia, Corneal opacity, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasi... ORPHA:290
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Low-set, pos... ORPHA:500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short philtrum, Narrow chest, Low-set ears, Decreased skull ossific... ORPHA:93267
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Upslanted palpebral fissure, Lymphedema, Synophrys OMIM:618154
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Zimmermann-Laband Syndrome 1
Cardiomyopathy, Wide mouth, Umbilical hernia, Long philtrum, Short philtrum, Scoliosis, Hearing i... OMIM:135500
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Cherry red spot of the macula, Spina bifida occulta OMIM:615281
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma OMIM:610023
Transaldolase Deficiency
Thin vermilion border, Short philtrum, Wide anterior fontanel, Patent foramen ovale, Low-set ears... OMIM:606003
Melkersson-Rosenthal Syndrome
Facial edema, Facial palsy OMIM:155900
Myasthenic Syndrome, Congenital, 18
Ptosis, Knee flexion contracture OMIM:616330
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Multiple Pterygium Syndrome, Escobar Variant
Kyphosis, Umbilical hernia, Long philtrum, Long clavicles, Triangular mouth, Scoliosis, Camptodac... OMIM:265000
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Craniosynostosis 6
Spina bifida occulta, Bicoronal synostosis, Sensorineural hearing impairment, Scoliosis, Right un... OMIM:616602
Nemaline Myopathy 9
Narrow chest, Scoliosis, High palate, Arthrogryposis multiplex congenita, Micrognathia, Cleft pal... OMIM:615731
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... OMIM:214300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormality of the philtrum, Abnormality of the dentition, Abnormal ... ORPHA:3268
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Distal Triplication 15Q
Retrognathia, Sensorineural hearing impairment, Microtia, Abnormal sternum morphology, Kyphosis, ... ORPHA:314588
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Dubowitz Syndrome
Rectal prolapse, Sacral dimple, Anal stenosis, Low-set, posteriorly rotated ears, Spina bifida oc... ORPHA:235
Mucopolysaccharidosis Type 7
Hydrops fetalis, Inguinal hernia, Lymphedema, Corneal opacity, Ascites, Splenomegaly, Umbilical h... ORPHA:584
Rubinstein-Taybi Syndrome 1
Retrognathia, Dental crowding, Pectus excavatum, Low posterior hairline, Mitral valve prolapse, J... OMIM:180849
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Epicanthus, Cellulitis, Pedal edema ORPHA:79452
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Tetrasomy 15Q26
Kyphoscoliosis, Syringomyelia, Hypoplastic aortic arch, Hydrocephalus, High palate, Low-set ears,... OMIM:614846
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Dermal sinus tract, Microtia, second degree, Submucous cleft pa... OMIM:620444
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Retrognathia, Sacral dimple, Esophageal atresia, Spina bifida occulta, S... OMIM:301030
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly OMIM:109120
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Recurrent otitis media, Right aortic arch, Thick upper l... OMIM:617616
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Proteus Syndrome
Lipoma, Ptosis, Downslanted palpebral fissures, Lymphangioma, Splenomegaly, Cerebriform connectiv... OMIM:176920
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Osteogenesis Imperfecta, Type I
Osteopenia, Aortic aneurysm, Otosclerosis, Hearing impairment, Biconcave flattened vertebrae, Den... OMIM:166200
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Delayed eruption of teeth, Scoliosis, Mand... OMIM:265900
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Coarctation of a... ORPHA:280195
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:300915
Primary Ciliary Dyskinesia
Chronic otitis media, Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Intest... ORPHA:244
Wolf-Hirschhorn Syndrome
Chronic otitis media, Abnormal form of the vertebral bodies, Microtia, Kyphosis, Low posterior ha... ORPHA:280
Poland Syndrome
Dextrocardia, Short ribs, Hemivertebrae, Sprengel anomaly, Rib fusion OMIM:173800
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Low-set ears, High palate, Velopharyngeal insufficiency, Micrognathia OMIM:608363
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long philtrum, Abnormal bone ossification, Narrow chest, Increased bone mineral density, Wide ant... ORPHA:163649
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Sensorineural hearing impairment, Joint hypermobility, Broad ribs, Hemivertebrae... OMIM:151050
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Cataract, Long eyelashes OMIM:190330
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Broad neck, Low-set, posteriorly rotated ears, M... ORPHA:263508
Noonan Syndrome 13
Broad eyebrow, Highly arched eyebrow, Lymphedema, Almond-shaped palpebral fissure, Ptosis, Downsl... OMIM:619087
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Sensorineural hear... ORPHA:1826
Dahlberg-Borer-Newcomer Syndrome
Cataract, Lymphedema, Telecanthus ORPHA:1563
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Lymphatic Malformation 4
Cellulitis, Lymphedema, Pedal edema OMIM:615907
Cantu Syndrome
Curly eyelashes, Lymphedema, Long eyelashes, Pericardial effusion, Epicanthus, Umbilical hernia OMIM:239850
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris ORPHA:782
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Meningocele, Scoliosis, Tethered cord, High palat... OMIM:620511
Femoral-Facial Syndrome
Limited elbow movement, Pulmonic stenosis, Absent vertebra, Long philtrum, Limited shoulder movem... OMIM:134780
Fibrochondrogenesis 1
Abnormal pinna morphology, Short ribs, Thoracic hypoplasia, Long philtrum, Long clavicles, Patent... OMIM:228520
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis, High-frequency hearing impairment, Otitis media OMIM:300455
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Inguinal hernia, Pancreatic lymphangiectasis, Lymphedema, Ascites, Downslanted pa... OMIM:235255
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint stiffness, Coarctation of aorta, Cleft palate, Joint hypermob... OMIM:620210
Coats Disease
Leukocoria OMIM:300216
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Lymphedema ORPHA:3137
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Arthritis, Scoliosis, Sensorineural hearing impai... OMIM:108300
3Mc Syndrome
Orofacial cleft, Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Abnormal pinna... ORPHA:293843
Chondrodysplasia-Difference Of Sex Development Syndrome
Chorioretinal coloboma, Hypoplasia of the iris ORPHA:1422
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Interrupted aortic arch, Scoliosis, Sensorineural hearing impairment, High palate,... ORPHA:250989
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Limitation of joint mobility, Spina bifida occulta ORPHA:2840
Monosomy 18P
Ptosis, Lymphedema, Hypertension, Epicanthus ORPHA:1598
Emanuel Syndrome
Kyphoscoliosis, Redundant neck skin, Dental crowding, Severe hearing impairment, Pulmonic stenosi... ORPHA:96170
Zttk Syndrome
Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Short philtrum, Scol... OMIM:617140
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris OMIM:249310
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Spina bifida occulta, Webbed neck, Sensorineural hearing ... OMIM:151100
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ... OMIM:183900
Mucopolysaccharidosis, Type Ix
Recurrent otitis media, Hyperextensibility at elbow, Synovitis, Lumbar scoliosis, Bifid uvula, Wr... OMIM:601492
Cardiospondylocarpofacial Syndrome
Wide mouth, Congenital sensorineural hearing impairment, Dysplastic tricuspid valve, Long philtru... OMIM:157800
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Intervertebral space narrowing, Pectu... OMIM:271530
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Albini... OMIM:203200
Pallister-Hall Syndrome
Abnormal lung lobation, Patent ductus arteriosus, Microtia, Hemivertebrae, Anal atresia, Rib fusi... OMIM:146510
Toriello-Carey Syndrome
Abnormal palate morphology, Aganglionic megacolon, Thickened helices, Narrow chest, Wide anterior... ORPHA:3338
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Thoracic hypoplasia, Long philtrum, 10 pairs ... OMIM:117650
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Bifid uvula, Abnormal heart morphology, Cranios... OMIM:218600
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Lymphadenopathy, Vasculitis, Pleural effus... ORPHA:33226
Fryns Syndrome
Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Abnormal card... ORPHA:2059
Lymphedema-Distichiasis Syndrome
Ectropion, Corneal erosion, Predominantly lower limb lymphedema, Distichiasis, Ptosis, Arrhythmia... ORPHA:33001
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Joint hypermobility, ... OMIM:253000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Webbed neck, Delayed eruption of teeth, Hypodontia, High palate, Camp... OMIM:612350
Congenital Velopharyngeal Incompetence
Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pe... OMIM:615582
Ring Chromosome 22 Syndrome
Lymphedema, Pleural effusion, Thick eyebrow, Epicanthus, Edema ORPHA:1446
Woolly Hair
Cataract, Abnormal pupil morphology, Hypopigmentation of hair ORPHA:170
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Ptosis, Epicanthus, Umbilical hernia, Cataract ORPHA:1373
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Pectus carinatum, Microtia, High palate, Low-set ears, Pect... OMIM:609654
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Thor... OMIM:616897
Campomelia, Cumming Type
Lymphedema, Polysplenia OMIM:211890
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Palpebral edema, Abnormality of the orbital region, Lymphadenopathy, Ab... ORPHA:449563
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Facial palsy, Progressive ptosis OMIM:164300
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Scoliosis, Lambdoidal craniosynostosis, Spina bifida occulta OMIM:618736
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Abnormal capillary physiology, Tongue edema, Angioedema, Pharyngeal edema, Facia... ORPHA:100057
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Pierre-Robin sequence, Cleft palate, Platyspondyly, Premature o... OMIM:184840
Yellow Nail Syndrome
Pulmonary arterial hypertension, Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Periorbital edema ORPHA:514
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Mixed hearing impairment, Broad neck, Sensorineural hearing impairment, High palate... OMIM:300472
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Tris... OMIM:616583
Aniridia ORPHA:654
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
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
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Lissencephaly 2
Lymphedema OMIM:257320
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Gorlin Syndrome
Orofacial cleft, Abnormality of the neck, Abnormal vertebral morphology, Odontogenic keratocysts ... ORPHA:377
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta ORPHA:1514
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Scoliosis, Gingival overgrowth, Low-set ears, Abnormality of the denti... OMIM:179613
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Narrow chest, Hypoplasia of penis, Hypospadias, Microtia, Ecto... ORPHA:1703
8Q24.3 Microdeletion Syndrome
Pectus excavatum, Abnormal heart morphology, Cervical ribs, Joint hypermobility, Long philtrum, T... ORPHA:508488
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Torticollis OMIM:249670
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Spina bifida occulta, Webbed nec... OMIM:105650
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Pectus carinatum, Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Bifid ... OMIM:617506
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Low-set ears, Hearing impairment, Coarctation of aorta... OMIM:617159
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cluster Headache, Familial
Edema, Ptosis OMIM:119915
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Repeated pneumothoraces, Aortic root aneurysm, Dental crowding, Scoliosis,... OMIM:617602
Neuralgic Amyotrophy
Redundant neck skin, Narrow mouth, Scapular winging, Sprengel anomaly, Bifid uvula, Cleft palate ORPHA:2901
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Telecanthus DECIPHER:70
Craniofacioskeletal Syndrome
Barrel-shaped chest, Short philtrum, Interrupted aortic arch, Microtia, Shield chest, Micrognathi... OMIM:300712
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Decreased hip abd... OMIM:609223
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, L... OMIM:617478
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Hydrocephalus, Low-set... OMIM:300514
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis, Patchy hypopigmentation of hair ORPHA:79414
Multiple Synostoses Syndrome 1
Enlargement of the costochondral junction, Short philtrum, Bilateral conductive hearing impairmen... OMIM:186500
Craniofaciofrontodigital Syndrome
Pectus carinatum, Aortic valve stenosis, Abnormal cerebral vascular morphology, Bicuspid aortic v... ORPHA:363705
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
ERI1-related disease
Osteopenia, Limited elbow extension, Increased vertebral height, Narrow chest, Pectus carinatum, ... OMIM:608739
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly, Periorbital edema OMIM:272200
20Q11.2 Microduplication Syndrome
Palpebral edema, Inguinal hernia, Underdeveloped supraorbital ridges, Ptosis, Downslanted palpebr... ORPHA:363659
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, 11 pairs of ribs, Hydrocephalus, Hemivertebrae, L... OMIM:264480
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Sweeney-Cox Syndrome
Short clavicles, Broad neck, Short philtrum, Narrow chest, Wide anterior fontanel, Patent foramen... OMIM:617746
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism ORPHA:231183
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t... OMIM:609049
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Bifid uvula, Abnormality of the anus, Bicuspid aortic... OMIM:607872
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris co... ORPHA:1473
Diabetic Embryopathy
Abnormality of the neck, Transposition of the great arteries, Low-set, posteriorly rotated ears, ... ORPHA:1926
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Limbal dermoid OMIM:613001
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:261243
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Patent ductus arteriosus, Hydrocephalus,... OMIM:612938
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Low-set ears, Cleft upper lip, Coarctation of aorta, Cl... OMIM:600987
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris OMIM:600092
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Predominantly lower limb lymphedema, Absent eyelashes, Absent eyebrow, Nonimmune... OMIM:607823
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Loeys-Dietz Syndrome 4
Retrognathia, Spondylolisthesis, Arterial tortuosity, Abnormal sternum morphology, Aortic tortuos... OMIM:614816
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Joint stiffness, Aortic valve stenosis, Wide mouth,... OMIM:253010
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Lateral Meningocele Syndrome
Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Bicusp... OMIM:130720
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Chronic otitis media, Hypospadias, Abnormality of the philtrum, Low... ORPHA:276422
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Atelectasis OMIM:615294
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Redundant neck skin, Abnormal aortic arch morphology, Microtia, Sho... ORPHA:96334
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, High palate, Everted lower lip vermil... ORPHA:261120
Fg Syndrome Type 1
Broad neck, Dental crowding, Sensorineural hearing impairment, Microtia, Abnormal sternum morphol... ORPHA:93932
Retinal hamartoma, Gastrointestinal hemorrhage, Lymphadenopathy, Chylopericardium, Chylothorax, A... ORPHA:538
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Abnormal intervertebral disk morphology, Joint hypermobilit... ORPHA:85194
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Cerebral ... ORPHA:137667
Duane-Radial Ray Syndrome
Aganglionic megacolon, Fused cervical vertebrae, Anal stenosis, Spina bifida occulta, Vascular di... OMIM:607323
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Rectovaginal fistula, Spina bifida occulta, Valvular pulmonary stenosis, L... OMIM:300707
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Noonan Syndrome 10
Webbed neck, Pectus carinatum, Scoliosis, High palate, Low-set ears, Hypertrophic cardiomyopathy,... OMIM:616564
Williams Syndrome
Chronic otitis media, Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, ... ORPHA:904
Charge Syndrome
Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Umbilical hernia, Abnormal cardia... ORPHA:138
Thanatophoric Dysplasia
Patent ductus arteriosus, Narrow chest, Hydrocephalus, Short thorax, Low-set ears, Kyphosis, Incr... ORPHA:2655
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Fountain Syndrome
Facial edema OMIM:229120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Parenchymal consolidat... OMIM:610978
Oculocutaneous Albinism Type 3
Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, White eyebrow, Ge... ORPHA:79433
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Vasculitis, Pericarditis, Splenomegaly, Conjunctivitis, Cellulitis, Fasciitis, P... ORPHA:32960
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Lymphedema, Cataract, Ma... ORPHA:891
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Telangiectasia of the skin, Hypertrophic cardiomyopathy, Telangiectasia ORPHA:79279
Oculocutaneous Albinism Type 1
Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo... ORPHA:352731
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Bifid uvula, Cleft palate OMIM:618768
Lymphatic Malformation 12
Polyhydramnios, Inguinal hernia, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites OMIM:620014
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Hypoplastic iris stroma, White forelock, White e... OMIM:193500
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Otosclerosis, Scoliosis, Kyphosis, Hearing impairment, Biconcave fl... OMIM:166220
Poland Syndrome
Reduced bone mineral density, Asymmetry of the thorax, Abnormal sternum morphology, Pectus carina... ORPHA:2911
Kbg Syndrome
Widely-spaced maxillary central incisors, Protruding ear, Webbed neck, Oligodontia, Thoracic kyph... OMIM:148050
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, High palate, Pectus excavatum, Decreased hip abduction, Camptodactyly ... OMIM:114300
Thanatophoric Dysplasia Type 2
Encephalocele, Narrow chest, Hydrocephalus, Short thorax, Limitation of joint mobility, Kyphosis,... ORPHA:93274
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Sensorineural hearing impairment, Intestinal malrotati... ORPHA:2712
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Central retinal vessel vascular tortuosity, Cleft palate ORPHA:506353
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Hearing impairment, Bifid uvula OMIM:256200
Lissencephaly 7 With Cerebellar Hypoplasia
Arthrogryposis multiplex congenita, Lymphedema OMIM:616342
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Narrow mouth, Pulmonary artery atre... ORPHA:3426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Bicuspid aortic valve, Carpal osteolysis, Abnormal form of the vertebral bodies, Oste... ORPHA:371428
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Ascending tubular aorta aneurysm, Bifid uvula, Arterial tortuosity OMIM:132800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Abnormal heart morphology, Bicuspid aortic valve, Craniosynostosis, Scoliosis, Oligo... ORPHA:453499
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, M... ORPHA:1110
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Hydrocephalus, Abnormal car... ORPHA:2306
Atypical scarring of skin, Lymphedema ORPHA:2485
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly ORPHA:93302
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris ORPHA:169090
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, High palate, Narrow chest OMIM:300850
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Retrognathia, Ischemic stroke, Coronary artery atherosclerosis, Hypertension... ORPHA:280679
Hemophagocytic Lymphohistiocytosis, Familial, 4
Edema, Lymphadenopathy, Splenomegaly, Conjunctivitis OMIM:603552
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
Donnai-Barrow Syndrome
Cataract, Iris coloboma, Hypoplasia of the iris OMIM:222448
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Osteopenia, Limited elbow extension, Increased vertebral height, Pectus carinatum, Scoliosis, Mic... OMIM:620663
Digeorge Syndrome
Right aortic arch with mirror image branching, Bifid uvula, Recurrent sinusitis, Umbilical hernia... OMIM:188400
Temple Syndrome
Recurrent otitis media, Short philtrum, Hydrocephalus, Scoliosis, High palate, Micrognathia, Bifi... OMIM:616222
You-Hoover-Fong Syndrome
Kyphoscoliosis, Pectus excavatum, Double aortic arch, Hearing impairment, Coarctation of aorta, C... OMIM:616954
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Microphthalmia, Syndromic 3
Butterfly vertebrae, Esophageal atresia, Sensorineural hearing impairment, Hemivertebrae, Vertebr... OMIM:206900
22Q11.2 Deletion Syndrome
Chronic otitis media, Abnormal aortic arch morphology, Small earlobe, Multiple suture craniosynos... ORPHA:567
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Highly arched eyebrow, Chylothorax, Lymphedema, Aortic valve stenosis, Ptosis, Do... OMIM:613563
Limb Body Wall Complex
Anencephaly, Abnormal intestine morphology, Myelomeningocele, Abnormal spinal cord morphology, Ab... ORPHA:2369
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Congestive heart failure, Flexion contracture, Predominantly lower limb ... ORPHA:261519
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Thin ribs, High palate, Death in infancy, Neonatal death, Joint hyperm... OMIM:300219
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Aortic valve stenosis, Bifid uvula, Umbilical hernia, Joint hyp... OMIM:601808
Greenberg Dysplasia
Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis ... ORPHA:1426
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Takenouchi-Kosaki Syndrome
Inguinal hernia, Highly arched eyebrow, Lymphedema, Camptodactyly, Synophrys, Pulmonic stenosis, ... OMIM:616737
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic root aneurysm, Pectus carinatum, Scoliosis, Ventricular hypertrophy, High... OMIM:208050
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Sensorineural hearing impairment, Glossoptosis, Abnormally ossifie... ORPHA:1427
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Vascular dilatation, Bell-shaped thorax, Narrow chest, Delayed epiphyseal oss... OMIM:613320
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Atrioventricular canal defect, Hydrocephalus, Midg... ORPHA:2409
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Wide... OMIM:616331
Stickler Syndrome Type 1
Long philtrum, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Hypopla... ORPHA:90653
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentin... ORPHA:71267
Hematemesis, Myocarditis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Melena, Splen... ORPHA:73263
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Left Ventricular Noncompaction 1