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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes
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