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Gene: Foxc2 MGI:1347481

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box C2

Synonyms:

MFH-1, Hfhbf3, Fkh14, Mfh1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxc2 mutations

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

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

Human diseases associated with Foxc2 (2 diseases)
Human diseases predicted to be associated with Foxc2 (2500 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lymphedema-Distichiasis Syndrome		Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Corneal ul...	OMIM:153400
Lymphedema-Distichiasis Syndrome		Cataract, Ectropion, Predominantly lower limb lymphedema, Corneal erosion, Conjunctivitis, Arrhyt...	ORPHA:33001

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

Disease	Matching phenotypes	Source
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Glaucoma 1, Open Angle, A	Abnormal iris vasculature	OMIM:137750
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	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	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P...	ORPHA:568051
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Posteriorly rotated ears, Dental crowding...	OMIM:617877
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Hyperlordosi...	ORPHA:2780
Meige Disease	Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen...	ORPHA:90186
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Epicanthus, Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, ...	OMIM:616006
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Blue irides, Hypopigmentation of hair, Albinism	OMIM:606574
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion	ORPHA:545
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morpho...	ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Abnormal intervertebral disk m...	ORPHA:2311
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Cataract, Lymphedema, Pulmonary lymphangiectasia, Ptosis	OMIM:247410
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi...	OMIM:613686
Heart And Brain Malformation Syndrome	Attached earlobe, Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, W...	OMIM:616920
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Anterior creases of earlobe, Hypoplastic l...	ORPHA:1727
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
White Forelock With Malformations	Low-set, posteriorly rotated ears, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility...	ORPHA:2475
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Gms Syndrome	Rieger anomaly	ORPHA:2090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Absent eyebrow, Palpebral edema, Predominantly lower limb lymphedema, Abs...	ORPHA:69735
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l...	ORPHA:1041
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula	ORPHA:370097
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Cleft lip, Sensorineural hearing impairment, Cleft palate...	OMIM:301022
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,...	OMIM:277300
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Low posterior hairline, Do...	ORPHA:2983
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Abnormal sacrum morphology, Long penis, Abnormal rib morp...	ORPHA:1988
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Orofacial cleft, Webbed neck, Abnormal sternum morphology, Vertebral segmentation d...	ORPHA:2990
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Atypical scarring of skin, Ker...	ORPHA:182
Cleidocranial Dysplasia	Mandibular prognathia, Micrognathia, High, narrow palate, Glossoptosis, Narrow chest, Chronic oti...	ORPHA:1452
Lymphatic Malformation 6	Epicanthus, Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomega...	OMIM:616843
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Short neck, ...	OMIM:619110
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th...	ORPHA:949
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Periorbital edema, Cervical lymphadenopathy, Conjunctivitis, Conjunc...	OMIM:142680
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Lymphedema, Myopic astigmatism, Microcornea, Upslanted pal...	OMIM:152950
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Posterior ri...	OMIM:265380
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema	OMIM:153300
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Carpenter Syndrome 1	Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Conductiv...	OMIM:201000
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Periorbital edema, Corneal astigmatism, Abnormal lacrimal sac ...	ORPHA:141083
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
3Mc Syndrome 1	Atrial septal defect, Sacral dimple, Dental crowding, Ventricular septal defect, Hearing impairme...	OMIM:257920
Isotretinoin Syndrome	Sacral dimple, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the out...	ORPHA:2305
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, C...	ORPHA:3386
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Lymphedema, Splenomegaly, Abnormality of the ly...	ORPHA:1414
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Neck musc...	OMIM:184400
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai...	OMIM:300373
Fountain Syndrome	Craniofacial hyperostosis, Spina bifida, Pectus excavatum, Kyphosis, Sensorineural hearing impair...	ORPHA:3219
Acrofacial Dysostosis, Palagonia Type	Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Supernumerary tooth, Abn...	ORPHA:1787
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard pa...	OMIM:619227
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology	OMIM:105805
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vert...	OMIM:608681
Phaver Syndrome	Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Co...	ORPHA:2876
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Epicanthus, Sparse eyelashes, Palpebral edem...	OMIM:137940
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Stapes ankylosis, Intestinal malrotation, Velopharyngeal insufficiency,...	OMIM:614701
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp...	OMIM:235510
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Lacrimal Duct Defect	Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Angioedema, Hereditary, 5	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619361
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu...	OMIM:102510
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ...	OMIM:193700
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, ...	OMIM:153100
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Patent ductus arteriosus, Cleft palate, Coarctation of a...	OMIM:615502
Facial Spasm	Anisocoria	OMIM:134300
Angioedema, Hereditary, 8	Facial edema, Laryngeal edema, Angioedema, Edema of the dorsum of hands	OMIM:619367
Three M Syndrome 1	Mandibular prognathia, Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, P...	OMIM:273750
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Cronkhite-Canada Syndrome	Splenomegaly, Cataract, Aplasia/Hypoplasia of the eyebrow, Lymphedema	ORPHA:2930
Alagille Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Micrognathia, Abnormal rib morph...	ORPHA:52
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema	OMIM:153200
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Joint stif...	ORPHA:1388
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial ...	OMIM:617360
Lymphatic Malformation 3	Cellulitis, Lymphedema	OMIM:613480
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Melkersson-Rosenthal Syndrome	Periorbital edema, Facial palsy, Edema, Lymphadenopathy	ORPHA:2483
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, Micrognathia, Kyphosis, Fl...	OMIM:618291
Angioedema, Hereditary, 4	Facial edema, Laryngeal edema, Angioedema	OMIM:619360
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p...	OMIM:619941
Larsen Syndrome	Cervical kyphosis, Pectus carinatum, Atrial septal defect, Conductive hearing impairment, Spina b...	OMIM:150250
Lymphedema, Primary, With Myelodysplasia	Epicanthus, Cellulitis, Lymphedema	OMIM:614038
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Kyphosis, Abnormal rib morphol...	ORPHA:1354
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Pectus carinatum, High palate, Microdontia...	ORPHA:536467
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Deep p...	OMIM:619717
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Proteasome-Associated Autoinflammatory Syndrome 3	Lipodystrophy, Periorbital edema, Splenomegaly, Flexion contracture, Lymphadenopathy, Panniculiti...	OMIM:617591
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal...	ORPHA:2347
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Spina bif...	ORPHA:2437
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lo...	ORPHA:1120
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Atrial flutter, Epicanthus, Telecanthus, Lymphedema, Hydrops fetalis, Upslanted palp...	OMIM:601927
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci...	OMIM:268310
Solar Urticaria	Periorbital edema, Angioedema, Syncope, Edema	ORPHA:97230
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Myasthenic Syndrome, Congenital, 8	Weakness of facial musculature, Ptosis	OMIM:615120
Cholestasis-Lymphedema Syndrome	Splenomegaly, Lymphedema	OMIM:214900
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, ...	ORPHA:1597
Lymphedema-Distichiasis Syndrome	Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Corneal ul...	OMIM:153400
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Joint stiffness, Micrognathia, Tetralogy of Fallot, Cleft palate, Prot...	ORPHA:1166
Classical-Like Ehlers-Danlos Syndrome Type 1	Precocious atherosclerosis, Mitral valve prolapse, Joint hyperflexibility, Stroke, Spina bifida o...	ORPHA:230839
Proteasome-Associated Autoinflammatory Syndrome 2	Periorbital edema, Lipodystrophy, Lymphadenopathy	OMIM:618048
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Recurrent...	ORPHA:2314
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Spina bifida occulta, Hea...	OMIM:268850
Distal Deletion 10Q	Smooth philtrum, Thin upper lip vermilion, Abnormal morphology of the vestibule of the inner ear,...	ORPHA:96148
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Short neck, Cleft upper lip, Hemivertebrae, Rib fusion, Cleft ...	ORPHA:1394
Alg3-Cdg	Osteopenia, Abnormal pinna morphology, Coarctation of the descending aortic arch, Neural tube def...	ORPHA:79321
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineur...	ORPHA:261197
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, High, narrow palat...	OMIM:618494
Cinca Syndrome	Lymphedema, Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Thick lower lip vermilion, Flexion contracture, Gingival over...	OMIM:618658
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, A...	ORPHA:798
Angioedema, Hereditary, 7	Facial edema, Angioedema	OMIM:619366
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage, Bone marrow hypocellularity	ORPHA:3226
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema	ORPHA:33276
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Short-Rib Thoracic Dysplasia 12	Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Neonatal death...	OMIM:269860
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Smooth philtrum, Microretrognathia, Abnormality of the dentiti...	ORPHA:1786
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Hemivertebrae, Orofacial cleft, Atrial se...	ORPHA:97360
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension, Lymphedema	OMIM:152900
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Myasthenic Syndrome, Congenital, 15	Multiple joint contractures, Ptosis	OMIM:616227
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Scoliosis, Spin...	ORPHA:177
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem...	OMIM:213980
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s...	OMIM:256050
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
German Syndrome	Abnormal eyebrow morphology, Camptodactyly of finger, Lymphedema, Synophrys, Arthrogryposis multi...	ORPHA:2077
Bronchogenic Cyst	Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur...	ORPHA:2357
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Reduced bone mineral density, Downturned corners of mouth, Joi...	ORPHA:1185
Nevus Comedonicus Syndrome	Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida	ORPHA:64754
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Short neck, Micrognathia, Abnormal rib m...	ORPHA:93267
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce...	OMIM:182940
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M...	ORPHA:290
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:231736
Noonan Syndrome With Multiple Lentigines	Low-set, posteriorly rotated ears, Abnormal endocardium morphology, Scapular winging, Abnormal mi...	ORPHA:500
Melkersson-Rosenthal Syndrome	Facial edema, Facial palsy	OMIM:155900
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Upslanted palpebral fissure, Synophrys, Polyhydramnios, Lymphedema	OMIM:618154
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Ventricular septal defect, Short neck, Cleft upper lip, Sensorineural ...	OMIM:214300
Transaldolase Deficiency	Ventricular septal defect, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Deep phi...	OMIM:606003
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Spina bifida occulta, Tethered cord	OMIM:615281
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, High palate, Narrow chest, Scoliosis, Arth...	OMIM:615731
Myasthenic Syndrome, Congenital, 18	Knee flexion contracture, Ptosis	OMIM:616330
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Acrofacial Dysostosis, Catania Type	Carious teeth, Spina bifida occulta	OMIM:101805
Craniosynostosis 6	Craniosynostosis, Sensorineural hearing impairment, Right unilambdoid synostosis, Scoliosis, Spin...	OMIM:616602
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Distal Triplication 15Q	Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect...	ORPHA:314588
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Abnormality of the dentition, Abnormal rib morphology, Pectus carina...	ORPHA:3268
Dubowitz Syndrome	Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster...	ORPHA:235
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, Hydrocephalus, Joint hyperflexibility...	ORPHA:250989
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Cellulitis	ORPHA:79452
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch,...	OMIM:614846
Van Esch-O'Driscoll Syndrome	Sacral dimple, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Pulmonar...	OMIM:301030
Pyle Disease	Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Ab...	OMIM:265900
Pallister-Hall Syndrome	Natal tooth, Posteriorly rotated ears, Ventricular septal defect, Cleft upper lip, Patent ductus ...	OMIM:146510
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe	OMIM:109120
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Poland Syndrome	Dextrocardia, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly	OMIM:173800
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Lymphedema, Splenomegaly, Hydrops fetalis, Umbilical hernia, As...	ORPHA:584
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Abnormal vertebral morphol...	ORPHA:280195
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears	OMIM:608363
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Vasculitis in the skin, Recurrent otitis medi...	OMIM:620321
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Aortic aneurysm, Mi...	OMIM:166200
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula...	OMIM:614816
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Micrognathia, Wide anterior f...	ORPHA:163649
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Smooth philtrum, Thin upper ...	ORPHA:263508
Dahlberg-Borer-Newcomer Syndrome	Telecanthus, Cataract, Lymphedema	ORPHA:1563
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Limbal dermoid, Lymphangioma, Downslanted palpebral fissu...	OMIM:176920
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Chylous Ascites	Ascites, Lymphedema	ORPHA:1160
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Lymphedema, Almond-shaped palpebral fissure, Blue irides, Mitr...	OMIM:619087
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Oligodontia, Conductive hearing impairment, Spina bifida oc...	ORPHA:1826
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Chondrodysplasia, Blomstrand Type	Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ...	OMIM:215045
Cantu Syndrome	Epicanthus, Curly eyelashes, Lymphedema, Pericardial effusion, Long eyelashes, Umbilical hernia	OMIM:239850
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
3Mc Syndrome	Abnormal pinna morphology, Hearing impairment, Hyperlordosis, Craniosynostosis, Limited pronation...	ORPHA:293843
Fibrochondrogenesis 1	Short neck, Patent foramen ovale, Posterior vertebral hypoplasia, Wide anterior fontanel, Short r...	OMIM:228520
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Craniofacioskeletal Syndrome	Barrel-shaped chest, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defec...	OMIM:300712
Lymphatic Malformation 4	Cellulitis, Pedal edema, Lymphedema	OMIM:615907
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,...	ORPHA:280
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Structural Heart Defects And Renal Anomalies Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Partial anomalous pulmonary ve...	OMIM:617478
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali...	OMIM:616749
Coats Disease	Leukocoria	OMIM:300216
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic l...	OMIM:235255
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Limit...	OMIM:184460
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Stickler Syndrome, Type I	Joint stiffness, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, Submucous cleft ha...	OMIM:108300
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Lymphedema	ORPHA:3137
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Charge Syndrome	Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bone min...	ORPHA:138
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal atrial arra...	ORPHA:244
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Facial palsy, Progressive ptosis	OMIM:164300
Chondrodysplasia-Difference Of Sex Development Syndrome	Hypoplasia of the iris, Chorioretinal coloboma	ORPHA:1422
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Joint stiffness, Cleft palate, Reduc...	OMIM:620210
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Conductive hearing impairment, Patent foramen ovale, Joint laxity, Hypoplas...	OMIM:157800
Monosomy 18P	Lymphedema, Hypertension, Epicanthus, Ptosis	ORPHA:1598
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Short neck, Micrognathia, Wide anterior fontane...	ORPHA:3338
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Sacrococcygeal pilonidal abnormality, Limitation of joint mobility	ORPHA:2840
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Cerebrocostomandibular Syndrome	Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atrial septal defect, Conductive...	OMIM:117650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short neck, Cardiomegaly, Beaded ribs, Multiple prenatal fractures, Flexion contractu...	OMIM:616897
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology	ORPHA:782
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Keratiti...	ORPHA:449563
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Prominent superficial veins, Joint laxity, Camptodactyly o...	OMIM:612350
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi...	OMIM:617140
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment	ORPHA:2291
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Anteriorly placed anus, High palate, Conductive hearing imp...	OMIM:218600
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Posteriorly rotated ears, Kyphoscoliosis, Short neck, Mi...	OMIM:151100
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Short neck, Kyphosis, Pectus carinatum, Squared-off platyspondyly, Scolios...	OMIM:271530
Fryns Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Abnormal aortic arch morphology, High palat...	ORPHA:2059
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix...	ORPHA:79113
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Emanuel Syndrome	Redundant neck skin, Dental crowding, Multiple joint contractures, Micrognathia, High palate, Atr...	ORPHA:96170
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Predominantly lower limb lymphedema, Corneal erosion, Conjunctivitis, Arrhyt...	ORPHA:33001
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Splenomegaly, Congestive heart failure...	ORPHA:33226
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Ventricular septal defect, Short neck, Cleft upper lip, Pec...	OMIM:609654
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Woolly Hair	Abnormal pupil morphology, Cataract, Hypopigmentation of hair	ORPHA:170
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Ring Chromosome 22 Syndrome	Epicanthus, Edema, Lymphedema, Pleural effusion, Thick eyebrow	ORPHA:1446
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Cataract, Inguinal hernia, Umbilical hernia, Ptosis	ORPHA:1373
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Spina bifida occulta, Lambdoidal craniosynostosis, Scoliosis	OMIM:618736
Nephroblastoma	Aniridia	ORPHA:654
Campomelia, Cumming Type	Polysplenia, Lymphedema	OMIM:211890
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
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Otitis media, Atelectasis, Recurrent bronchitis, High-frequency hearing impairment	OMIM:300455
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Atrial septal defect, ...	OMIM:615582
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus ...	OMIM:300472
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspondyly, Beaking o...	OMIM:616583
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Cervical lymphadenopathy	ORPHA:514
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea	OMIM:249310
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Short neck, Cleft upper lip, Mic...	OMIM:105650
Yellow Nail Syndrome	Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema	ORPHA:662
Lissencephaly 2	Lymphedema	OMIM:257320
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Micrognathia	ORPHA:1514
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Short neck, Abnormal lung lobation, Cleft maxillary alveolar ...	ORPHA:508488
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cupped ear, Coarctation of aorta, Anteriorly...	OMIM:617159
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Micrognathia, Short neck, Ab...	ORPHA:1703
Noonan Syndrome 2	Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial sept...	OMIM:605275
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Abnormality of the...	OMIM:179613
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, Thickened helices,...	OMIM:617506
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Sensorineural hearing impairment, Premature osteoarthritis, Pierre-Robin sequence, Cleft palate, ...	OMIM:184840
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Thin upper lip vermilion, Stapes ankylosis, Asymmetry of the mouth,...	OMIM:186500
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lum...	OMIM:253000
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis	DECIPHER:70
Femoral-Facial Syndrome	Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, Absent vertebra, Rib fusi...	OMIM:134780
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia,...	ORPHA:83461
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Short neck, Protruding tongue, Patent ductus arteriosus, Sensorineural...	OMIM:612938
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Repeated pneumothoraces, Intestinal malrotation, Ventricular septal defect, Cari...	OMIM:617602
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Irregular vertebral endplates, P...	OMIM:609223
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Pectus ca...	ORPHA:363705
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Wide anterior fontanel, Patent ductus arteriosus, Cupped ear, Vel...	OMIM:617746
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abnormal sacrum morph...	ORPHA:1926
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Short neck, Esophageal atresia, Patent ductus arteri...	OMIM:300514
Legg-Calvé-Perthes Disease	Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Submucous cleft hard palate, Hyperextensibility at wrists, Synovitis...	OMIM:601492
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Abnormal lung lobation, Orofacial cleft, High palate, Thickened helices, C...	OMIM:607872
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
20Q11.2 Microduplication Syndrome	Epicanthus, Inguinal hernia, Palpebral edema, Periorbital edema, Abnormal shape of the palpebral ...	ORPHA:363659
Lateral Meningocele Syndrome	Dental crowding, Bicuspid aortic valve, Short neck, Micrognathia, High palate, Conductive hearing...	OMIM:130720
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aorta, Joint hyperf...	ORPHA:261243
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Nivelon-Nivelon-Mabille Syndrome	Hypoplasia of the iris	OMIM:600092
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Ventricular septal defect, Micrognath...	ORPHA:261120
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Bifid uvula	ORPHA:2669
Cluster Headache, Familial	Edema, Ptosis	OMIM:119915
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia	OMIM:613001
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Periorbital edema, Splenomegaly, Vasculitis, Lymphadenopathy, Conjunctiv...	ORPHA:32960
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Craniosynostosis, Valvular pulmona...	OMIM:300707
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Osteoporosis, Low...	ORPHA:85194
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Short philtrum, Bifid uvula, Atelectasis, Patent ...	OMIM:188400
Multiple Sulfatase Deficiency	Periorbital edema, Splenomegaly, Corneal opacity	OMIM:272200
Fg Syndrome Type 1	Dental crowding, Micrognathia, Generalized joint laxity, Abnormal sternum morphology, Fused teeth...	ORPHA:93932
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Short neck, Micrognathia,...	ORPHA:96334
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Ventricular septal defect, Sensorineural hearing impairment...	OMIM:607323
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Conductive hearing impa...	OMIM:616726
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Posteriorly rotated ears, Ventricular septal defect, Dextrocardi...	OMIM:264480
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, ...	OMIM:607823
Fountain Syndrome	Facial edema	OMIM:229120
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Melorheostosis	Atypical scarring of skin, Lymphedema	ORPHA:2485
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Decreased hip abduction, Thoracolumbar scoliosis, Kyphoscoliosis, Short nec...	OMIM:114300
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Facial capillary hemangioma, High-output conges...	ORPHA:137667
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe...	ORPHA:352731
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Lymphedema, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovasc...	ORPHA:891
Spastic Paraplegia 81, Autosomal Recessive	Sensorineural hearing impairment, Bifid uvula, Cleft palate	OMIM:618768
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Abnormal capillar...	ORPHA:100057
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Posteriorly rotated ears, Macrodontia, Short neck, ...	OMIM:148050
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Increased nuchal translucency, Patent ductus arteriosus, Short thorax, L...	ORPHA:93274
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Patent duct...	ORPHA:2655
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f...	OMIM:193500
Noonan Syndrome 10	Atrial septal defect, Mitral stenosis, Ventricular septal defect, Short neck, Pectus excavatum, I...	OMIM:616564
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema	OMIM:620014
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Joint laxity, Hyperlordosis, Hyp...	OMIM:253010
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage of external ear, Subm...	ORPHA:3426
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm...	ORPHA:1110
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate	ORPHA:506353
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Posteriorly rotated ears, Vent...	ORPHA:163979
Poland Syndrome	Short neck, Hemivertebrae, Pectus carinatum, Reduced bone mineral density, Vertebral segmentation...	ORPHA:2911
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Hearing impairment	OMIM:256200
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognat...	ORPHA:904
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Vertebral segmentation defect, Ol...	ORPHA:453499
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Abnormality of the lymphatic system, ...	ORPHA:538
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Flexion c...	ORPHA:2712
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Duane Retraction Syndrome	Narrow internal auditory canal, Short neck, External ear malformation, Micrognathia, Sensorineura...	ORPHA:233
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Low-set ears, Long ph...	ORPHA:280679
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Lissencephaly 7 With Cerebellar Hypoplasia	Arthrogryposis multiplex congenita, Lymphedema	OMIM:616342
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Ground-glass o...	OMIM:610978
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil...	OMIM:166220
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the u...	ORPHA:371428
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
You-Hoover-Fong Syndrome	Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Coarctation of aorta, Va...	OMIM:616954
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Intellectual Developmental Disorder, X-Linked 90	Narrow chest, High palate, Bifid uvula	OMIM:300850
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Missing ribs, Esophageal atresia, Patent ductus arte...	OMIM:206900
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy	OMIM:617772
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Spina bifida occulta, Aplasia/Hypoplasia involving bones of...	ORPHA:2369
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Hiatus hernia, Pectus excavatum...	OMIM:208050
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Short neck, Downturned corners of mouth, Short philtrum, Atrial septal def...	OMIM:601808
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Short neck, Cardiomegaly, Deep philtrum, Delayed epiphyseal ossification, Bell-...	OMIM:613320
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Conjunctivitis, Edema, Lymphadenopathy	OMIM:603552
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum...	ORPHA:567
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Mitral...	ORPHA:90653
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A...	OMIM:201550
Donnai-Barrow Syndrome	Hypoplasia of the iris, Cataract, Iris coloboma	OMIM:222448
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, High, narrow palat...	ORPHA:2409
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Predominantly lower limb lymphedema, Camptodactyly...	ORPHA:261519
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Po...	OMIM:618622
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Missing ribs, Micrognathia, Hydrocephalus, Hemivertebrae, Cleft palate...	OMIM:220210
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Hearing impairment	ORPHA:1705
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Platyspondyly, Short p...	ORPHA:71267
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Highly arched eyebrow, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, ...	OMIM:613563
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Thin ribs, High palate, Neonatal death, Retrognathia, Joint hyperm...	OMIM:300219
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Hydrocephalus, Meningocele, ...	OMIM:614424
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:284169
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Joint stiffness, High, narrow palate, Micrognathia, Abnorm...	ORPHA:2516
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Aplastic clavicle, Protruding tongue, Broad clavicle...	ORPHA:50945
Trichinellosis	Facial palsy, Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Anisocoria, Conjunctivi...	ORPHA:863
Takenouchi-Kosaki Syndrome	Inguinal hernia, Highly arched eyebrow, Lymphedema, Sparse eyebrow, Synophrys, Upslanted palpebra...	OMIM:616737
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm...	ORPHA:276422
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Torticollis, Contracture of the proximal interphalangeal joint...	ORPHA:2872
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol...	ORPHA:2306
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus...	OMIM:259440
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Cartilage destruction, Joint...	ORPHA:169805
Temple Syndrome	Posteriorly rotated ears, Micrognathia, Hydrocephalus, Flexion contracture, Cleft palate, High pa...	OMIM:616222
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Patent ductus arteriosus, Joint hyperflexibility, Pl...	ORPHA:166272
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Patent duct...	ORPHA:1860
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Ventricular septal def...	ORPHA:2962
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Hearing abnorm...	ORPHA:2021
Fabry Disease	Angina pectoris, Corneal dystrophy, Myocardial infarction, Transient ischemic attack, Lymphedema,...	OMIM:301500
Klippel-Trenaunay-Weber Syndrome	Lymphangioma, Lymphedema	OMIM:149000
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Cervical cord compression, Atrial septal defect, Hy...	ORPHA:79345
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p...	ORPHA:2885
Neurofibromatosis-Noonan Syndrome	Abnormality of the lymphatic system, Pulmonic stenosis, Hypertrophic cardiomyopathy, Downslanted ...	ORPHA:638
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Abnormality of the middle ear ...	ORPHA:107
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the dentition, Celiac d...	ORPHA:576283
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Frontalis muscle weakness	OMIM:300580
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal...	ORPHA:79500
Hennekam Syndrome	Epicanthus, Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary ly...	ORPHA:2136
Trisomy 12P	Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye	ORPHA:1699
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Ky...	ORPHA:582
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Fasciitis, Epistaxis, Hematemesis, Mediastinal lymphad...	ORPHA:73263
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern...	ORPHA:50
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Abnormal pinna morphology, Ventricular septal defect, Camp...	ORPHA:1692
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Greenberg Dysplasia	Abnormally ossified vertebrae, Micrognathia, Abnormal pelvis bone ossification, Anterior rib punc...	ORPHA:1426
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Dextrocardia, Low posterior hairline, Coarcta...	OMIM:618929
Neuraminidase Deficiency	Inguinal hernia, Cataract, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites	OMIM:256550
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Tracheomalacia, Joint st...	ORPHA:896
Feingold Syndrome 1	Posteriorly rotated ears, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Microgn...	OMIM:164280
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of teeth, Platyspon...	OMIM:156510
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Micrognathia, Esophageal atresia, Patent ductus arteriosus, ...	ORPHA:391641
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology,...	ORPHA:449400
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Palpebral edema, Edema	ORPHA:99868
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Hyperlordosis, Protruding ear...	ORPHA:169186
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Scolio...	ORPHA:398156
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Pectus carinatum, Knee flexion contr...	OMIM:121050
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Hall-Riggs Syndrome	Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Irregular verteb...	OMIM:234250
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Abnormal clavicle morphology...	ORPHA:628
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Short neck, Cervicomedullary schisis, ...	OMIM:118100
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Short clavicles, Spina bifida occulta	OMIM:169550
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Abnormal pinna ...	OMIM:309583
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Oligodont...	OMIM:601216
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Abnormality of the dentition, Vertebral clefting, Hypercalciuria, I...	OMIM:241500
Coffin-Siris Syndrome 1	Conical tooth, Short philtrum, High palate, Microdontia, Atrial septal defect, Spina bifida occul...	OMIM:135900
Al-Gazali-Bakalinova Syndrome	Inguinal hernia, Lymphedema	OMIM:607131
Anauxetic Dysplasia 3	Recurrent respiratory infections, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior f...	OMIM:618853
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Lymphedema, Long eyelashes, Prominent supraorbital ridges, Celluliti...	OMIM:606232
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Edema, Abnormal eyelid morphology,...	ORPHA:2526
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ...	OMIM:608227
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ...	OMIM:269250
Tarp Syndrome	Posteriorly rotated ears, Micrognathia, Pectus excavatum, Subdural hemorrhage, Tetralogy of Fallo...	OMIM:311900
Infantile Sialic Acid Storage Disease	Epicanthus, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites, Ptosis	OMIM:269920
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Cleft palate, Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Hearing impair...	OMIM:300958
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Glycogen Storage Disease Due To Acid Maltase Deficiency	Thoracic aortic aneurysm, Transient ischemic attack, Hyperlordosis, Abnormal internal carotid art...	ORPHA:365
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Highly arched eyebrow, Lymphedema, Sparse eyebrow, Synophrys, Abnormality of the...	ORPHA:487796
Schwartz-Jampel Syndrome, Type 1	Cervical kyphosis, Short neck, Micrognathia, Deep philtrum, Pectus carinatum, High palate, Wrist ...	OMIM:255800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Celiac disease, Increased nuchal translucency, S...	ORPHA:544488
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyl...	OMIM:609052
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Posteriorly rotated ears, Short neck, Microg...	ORPHA:1427
Orofaciodigital Syndrome V	Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Aganglionic megacol...	OMIM:174300
Sneddon Syndrome	Vertigo, Arterial stenosis, Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Micrognathia, Prominent veins on trunk, Shoulder dislocation, Hig...	ORPHA:536532
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Micrognathia, Carious teeth, Hyperlordo...	OMIM:618363
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Lymphedema, Microcornea, Eyelid coloboma, Astigmatism, Opa...	OMIM:600268
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an...	OMIM:113000
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormal dental morphology, Micrognathia, Fractures of the long bones, Osteoporosis, ...	ORPHA:319195
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Spin...	ORPHA:93346
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus, Narrow chest, S...	OMIM:618961
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure	ORPHA:2528
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo...	OMIM:618316
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Sensorineural hearing impairment, Submucous cleft hard pala...	OMIM:617660
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ...	OMIM:182290
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormality of the neck, Abnormal sternum morphology, ...	ORPHA:96167
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Catel-Manzke Syndrome	Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Bifid uvula, Joint laxity,...	OMIM:616145
Autosomal Recessive Stickler Syndrome	Micrognathia, Sensorineural hearing impairment, Cleft palate, Irregular vertebral endplates, Plat...	ORPHA:250984
Opitz Gbbb Syndrome	Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Recurrent aspirat...	ORPHA:2745
Burn-Mckeown Syndrome	Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Cleft upper lip, Microgna...	OMIM:608572
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Kyphos...	ORPHA:404440
Odontochondrodysplasia 1	Delayed eruption of teeth, Recurrent respiratory infections, Biconvex vertebral bodies, Death in ...	OMIM:184260
Mosaic Trisomy 16	Meckel diverticulum, Abnormal ear morphology, Ventricular septal defect, Large placenta, Patent d...	ORPHA:1708
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Micrognathia...	OMIM:612561
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Wide anterior fontanel, Absen...	OMIM:269300
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Iris coloboma, Chorioretinal coloboma	ORPHA:2921
3C Syndrome	Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tricuspid...	ORPHA:7
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis	OMIM:617768
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Abnormal cartilage collagen, Hypoplasia of the odont...	ORPHA:485
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces, Prominent cru...	ORPHA:261311
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wi...	OMIM:300963
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Abnormality of the middle ear ossicles, Conductive hearing impairmen...	ORPHA:2549
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Short neck, Abnormal rib morphology, Retrognathia, Webbed ...	ORPHA:488434
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Wid...	OMIM:607812
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Coarse meta...	ORPHA:1782
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Pect...	OMIM:313420
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Pectus carinatum, Shou...	OMIM:245600
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ...	ORPHA:534
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Kniest Dysplasia	Hip contracture, Tracheomalacia, Short neck, Pectus excavatum, Abnormal cartilage collagen, Delay...	OMIM:156550
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Foam cells	OMIM:230650
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Infantile Systemic Hyalinosis	Camptodactyly of finger, Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Lymphedema	ORPHA:2176
Igg4-Related Submandibular Gland Disease	Facial edema, Periorbital edema, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy	ORPHA:449432
Short Syndrome	Megalocornea, Astigmatism, Rieger anomaly, Cataract	OMIM:269880
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver...	OMIM:224300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Patent ductus arteriosus, Sensorineural hearing impairment, Fle...	ORPHA:17
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Tenosynovial Giant Cell Tumor	Joint swelling, Chondrocalcinosis, Lymphedema	ORPHA:66627
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned co...	ORPHA:500150
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Protruding ear...	OMIM:614856
Classic Mycosis Fungoides	Abnormal eyelid morphology, Splenomegaly, Edema, Lymphadenopathy	ORPHA:2584
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Horizontal eyebrow, Ptosis	OMIM:619311
Zimmermann-Laband Syndrome	Short neck, Micrognathia, Sensorineural hearing impairment, Supernumerary tooth, Gingival fibroma...	ORPHA:3473
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Highly arched eyebrow, Ptosis	OMIM:616154
Fetal Trimethadione Syndrome	Atrial septal defect, Ventricular septal defect, Micrognathia, High palate, Transposition of the ...	ORPHA:1913
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	OMIM:600001
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defec...	OMIM:612946
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Patent ductus arteriosus, ...	ORPHA:363444
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mineral density,...	OMIM:215140
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Ventricular septal defect, Coarctation of aorta, Abnormal heart morpho...	ORPHA:261183
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/...	ORPHA:2759
Hepatoerythropoietic Porphyria	Nonimmune hydrops fetalis, Edema, Scarring, Splenomegaly, Scarring alopecia of scalp, Loss of eye...	ORPHA:95159
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Spina bifida, Cleft upper lip, Hiatus hernia, Miss...	OMIM:304050
Mevalonic Aciduria	Splenomegaly, Cataract, Downslanted palpebral fissures	ORPHA:29
Dural Sinus Malformation	Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrha...	ORPHA:97339
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Abnormal pinna morphology, Ovoid vertebral bodies, Intestinal malrotati...	OMIM:244450
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Recurrent pneumonia, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypop...	OMIM:602271
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Abnormal ...	ORPHA:2180
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Clavicular pseudarthros...	OMIM:156530
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Kabuki Syndrome	Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Orofacial cleft, High palat...	ORPHA:2322
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum...	OMIM:249420
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Cupped ear, Dental malocclusion, Cleft pa...	OMIM:300867
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Knee flexion contracture, Interphalangeal joint contracture of finger, Thick eyebrow, Ptosis	OMIM:606242
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Cleft palate, High palate, Short philtrum, Scoliosis, Narrow mout...	ORPHA:96184
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement	ORPHA:163665
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Clapo Syndrome	Lymphangioma, Lymphedema	ORPHA:168984
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft l...	OMIM:619122
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular sep...	ORPHA:457279
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Micrognathia, Low-...	OMIM:267000
Dohle Bodies And Leukemia	Lymphedema	OMIM:223350
Monosomy 18Q	Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, High palate, S...	ORPHA:1600
Spondyloepiphyseal Dysplasia Congenita	Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo...	ORPHA:94068
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Short neck, Micrognathia, ...	ORPHA:2522
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Pectus carinatum, Hig...	OMIM:182212
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial clef...	ORPHA:268249
Holt-Oram Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,...	ORPHA:392
Spastic Ataxia 1, Autosomal Dominant	Ptosis	OMIM:108600
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec...	OMIM:139210
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Aplasia/Hypoplasia of the eyebrow, Upper eyelid e...	ORPHA:293939
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Velopharyngeal insufficiency, Recurre...	OMIM:619314
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Ventricular septal defect, Pectus excavatum, Protruding ear, Pectus carinatum, Aort...	OMIM:301039
Emanuel Syndrome	Dental crowding, Micrognathia, High palate, Atrial septal defect, Joint contracture, Patent ductu...	OMIM:609029
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, ...	OMIM:618330
Idiopathic Steroid-Resistant Nephrotic Syndrome	Periorbital edema, Edema, Pulmonary embolism	ORPHA:567548
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Facial palsy, Ptosis	OMIM:617732
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Wide anterior fontanel, Cleft p...	OMIM:619736
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Abnor...	ORPHA:166016
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short n...	OMIM:617022
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Short neck, Micrognathia, Hypoplasia of the odontoid proce...	OMIM:264180
Agel Amyloidosis	Cataract, Facial palsy, Edema, Bilateral ptosis, Xerostomia, Cardiomyopathy, Keratoconjunctivitis...	ORPHA:85448
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Recurrent fractures, Beaded ribs, Tooth ag...	OMIM:616229
Dysspondyloenchondromatosis	Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Multiple enchondromatosis, Vertebral se...	ORPHA:85198
Cardiofaciocutaneous Syndrome	Epicanthus, Lymphedema, Abnormal eyelash morphology, Underdeveloped supraorbital ridges, Sparse o...	ORPHA:1340
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft upper lip, Abnormal rib morphology...	OMIM:601076
Noonan Syndrome	Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, Arrhythmia, Downslant...	ORPHA:648
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst...	ORPHA:2035
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis, Coarctation of a...	ORPHA:2396
Fatty Acyl-Coa Reductase 1 Deficiency	Juvenile cataract, Highly arched eyebrow, Ptosis	ORPHA:438178
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus...	ORPHA:52055
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Missing ri...	ORPHA:1488
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Abnormal right ventricle morphology,...	ORPHA:500095
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Cleft palate, Platyspondyly, Dela...	ORPHA:1856
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Joint laxity, Death in infancy, Micrognathia, A...	OMIM:613177
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Craniofacial hyperostosis, Stenosis of the external auditory canal...	ORPHA:1513
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri...	ORPHA:168549
Genetic Steroid-Resistant Nephrotic Syndrome	Periorbital edema, Edema	ORPHA:656
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Micrognathia, Long thorax, Narrow chest, Neonatal death, Hamar...	OMIM:617925
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Micrognathia, Limitation of j...	ORPHA:1486
Combined Oxidative Phosphorylation Deficiency 47	Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspondyly, Low-set ea...	OMIM:618958
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Ptosis	ORPHA:1875
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Deep philtrum, Thora...	OMIM:619542
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Lobulat...	ORPHA:2752
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, Vascular ring, Knee flexi...	OMIM:603387
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Stapes ankylosis, Dental crowding, Absent malle...	OMIM:614188
Peters Plus Syndrome	Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely sp...	ORPHA:709
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Pat...	OMIM:601186
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Microg...	ORPHA:435638
Arthrogryposis, Distal, Type 7	Arthrogryposis multiplex congenita, Distal arthrogryposis, Ptosis	OMIM:158300
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Stickler Syndrome, Type Ii	Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin sequence, Cleft...	OMIM:604841
1P36 Deletion Syndrome	Abnormality of the neck, Conductive hearing impairment, Abnormality of the anus, Low-set, posteri...	ORPHA:1606
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion contracture, Barrel-...	OMIM:178110
Non-Functioning Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart ...	ORPHA:94080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Stroke-like episode, Right aort...	OMIM:300845
Verheij Syndrome	Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Joint laxity, Ventricular septal defe...	OMIM:615583
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Protruding ear, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal...	ORPHA:93315
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Abnormal pinna morphology, Anencephaly, Cleft palate, Cam...	OMIM:614175
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Micrognathia, Short neck, Patent d...	ORPHA:529962
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:352665
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Mic...	OMIM:258850
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Unilateral narrow palpebral fissure	OMIM:182875
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Platyspondyly, Atresia of the external auditory canal	OMIM:601356
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration, Emphysema,...	ORPHA:70589
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging	OMIM:617719
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Cleft lip, Cleft...	OMIM:616898
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Iris coloboma	OMIM:602499
Uvula, Bifid	Bifid uvula	OMIM:192100
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Pectus car...	OMIM:184250
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphedema	ORPHA:1116
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Widely spaced teeth, Anterior ...	OMIM:253220
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly	OMIM:270450
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Saul-Wilson Syndrome	Prominent superficial veins, Micrognathia, Pectus excavatum, Wide anterior fontanel, Hypoplasia o...	OMIM:618150
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in...	OMIM:113650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener...	ORPHA:508498
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa...	OMIM:619472
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Townes-Brocks Syndrome 2	Cupped ear, Microtia, Rectovaginal fistula, Scoliosis, Overfolded helix, Spina bifida occulta, An...	OMIM:617466
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi...	OMIM:616531
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Hypospadias, Pectus excavatum, High, narrow palate, Sensorine...	ORPHA:3242
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Short neck, Micrognathia, Kyphosis, Aplasia/Hypoplasi...	ORPHA:3082
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Intracranial hemorrhage, Stillbirth, High palate, Neonatal death	ORPHA:85212
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture...	OMIM:312150
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Asbestos Intoxication	Ground-glass opacification, Atelectasis, Pleural thickening, Cor pulmonale, Abnormal pulmonary in...	ORPHA:2302
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Sacral dimple, Abnormal pinna morphology, Ventricular septal defect, Do...	OMIM:617452
Kagami-Ogata Syndrome	Long clavicles, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxill...	OMIM:608149
Camptodactyly Syndrome, Guadalajara, Type Iii	Torticollis, Abnormal pinna morphology, Short neck, Retrognathia, Joint contracture of the hand, ...	OMIM:611929
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Cleft lip, Narrow mouth, Cleft palate, Downturned corners of mouth, Mic...	OMIM:618089
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Ptosis	OMIM:610539
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynos...	ORPHA:1790
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Dental malocclusion, Platyspondyly, Scolios...	OMIM:608940
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Large fleshy ears, Right ventr...	ORPHA:79328
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Hemivertebrae, Rib fusion, Scoliosis	OMIM:614688
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema	OMIM:106100
Cri-Du-Chat Syndrome	Microretrognathia, Abnormal pinna morphology, Short neck, Thick lower lip vermilion, Orofacial cl...	OMIM:123450
Atelis Syndrome 1	Glue ear, Ventricular septal defect, Carious teeth, Bronchiectasis, Lumbar kyphosis, Microtia, Hi...	OMIM:620184
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Patent ductus ...	ORPHA:1517
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Craniofacial hyperostosis, Micrognat...	ORPHA:2484
Achondrogenesis Type 1B	Thickened nuchal skin fold, Short neck, Abnormal enchondral ossification, Micrognathia, Short tho...	ORPHA:93298
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I...	ORPHA:136
Intellectual Developmental Disorder, Autosomal Recessive 44	Thin vermilion border, Bifid uvula, Long philtrum	OMIM:615942
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Scapular winging, Ventricular septal defect, Hyperlordosis, Pect...	OMIM:618870
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ...	OMIM:610915
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Abdominal aortic...	ORPHA:284984
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Hypoplasia of the odo...	ORPHA:750
Noonan Syndrome 1	Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s...	OMIM:163950
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hearing ...	ORPHA:500159
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Abnormal eyelid morphology, Edem...	ORPHA:221
Anauxetic Dysplasia 1	Barrel-shaped chest, Joint laxity, Hip contracture, Lumbar hyperlordosis, Mandibular prognathia, ...	OMIM:607095
Kyphoscoliotic Ehlers-Danlos Syndrome	Micrognathia, Pectus carinatum, Shoulder dislocation, High palate, Conductive hearing impairment,...	ORPHA:536545
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Recurrent respiratory infections, Sacral dimple, Posteriorly rotated ears, Abnormal...	OMIM:300968
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis, Developmental cataract	ORPHA:330054
Acrofacial Dysostosis 1, Nager Type	Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Conductive hearing impairment, Abnor...	OMIM:154400
Cerebrofacioarticular Syndrome	Epicanthus, Lymphedema, Pulmonic stenosis, Camptodactyly, Blepharophimosis	ORPHA:314679
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Bifid uvula...	OMIM:616580
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Short neck, Micrognathia, Patent d...	OMIM:616364
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Rhizomelic Syndrome, Urbach Type	Micrognathia, Short neck, Wide anterior fontanel, Kyphosis, Abnormality of the tongue, Cleft pala...	ORPHA:3098
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thin ri...	OMIM:151210
Gm1 Gangliosidosis	Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red sp...	ORPHA:354
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Vertigo, Intracranial hemorrhage, Stroke	ORPHA:140989
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Blepharophimosis, Telecanthus, Hyperopic astigmatism, Ptosis	OMIM:606772
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Micrognathia, Pectus ...	ORPHA:109
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio...	ORPHA:2092
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Orofaciodigital Syndrome Vi	11 pairs of ribs, Posteriorly rotated ears, Accessory oral frenulum, Cleft upper lip, Hamartoma o...	OMIM:277170
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abno...	ORPHA:91387
Lujo Hemorrhagic Fever	Shock, Facial edema, Myocarditis, Periorbital edema, Subconjunctival hemorrhage, Bradycardia, Hyp...	ORPHA:319213
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Facial palsy, Ptosis	OMIM:609283
Desbuquois Dysplasia 2	Joint laxity, Lumbar hyperlordosis, Dental crowding, Short neck, Pectus excavatum, Advanced ossif...	OMIM:615777
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossi...	OMIM:114290
Acrocardiofacial Syndrome	Death in infancy, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft uppe...	ORPHA:2008
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Micrognathia, Short t...	ORPHA:1801
Moebius Syndrome	Abnormal pinna morphology, Abnormality of the dentition, Short neck, Micrognathia, High palate, C...	OMIM:157900
Chromosome 5Q12 Deletion Syndrome	Sacral dimple, Posteriorly rotated ears, Ventricular septal defect, Short neck, Micrognathia, Inc...	OMIM:615668
Farber Disease	CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract...	ORPHA:333
Larsen-Like Syndrome	Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis media...	OMIM:608545
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Abnormality of the anus, Low-set, posteriorly ...	ORPHA:2308
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Dental crowding, Ventricular septal defect, Micrognat...	OMIM:617061
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Platyspon...	OMIM:126550
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Abnormal retinal artery morphology, Medial calcification ...	ORPHA:51608
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture...	OMIM:277720
Orofaciodigital Syndrome Xix	Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Additional crus of ...	OMIM:620107
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia, Hypopigmen...	OMIM:251300
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Spina bifida, Micrognathia, Trismus, Submu...	ORPHA:2671
Diamond-Blackfan Anemia 7	Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, O...	OMIM:612562
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Micrognathia, Patent ductu...	OMIM:301043
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Tethered cord, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Narr...	OMIM:619480
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne...	ORPHA:261318
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Micrognathia, Submucous cleft hard palate, Flexion contracture, Irregular vertebral e...	OMIM:222765
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends	ORPHA:168555
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pectus excav...	ORPHA:2970
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Ma...	OMIM:600460
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Micrognathia, Hydrocephalus, Thin ribs, Wide mouth, Platyspondyly, Short philtr...	ORPHA:163966
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Pectus exca...	ORPHA:329224
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly, Hip osteoarthritis,...	ORPHA:2619
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of...	ORPHA:254361
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Atrial septal defect, Neonatal death, Wide anterior fontanel, ...	OMIM:275210
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Dental crowding, Bicuspid aortic va...	OMIM:617168
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Microcephaly 16, Primary, Autosomal Recessive	Knee flexion contracture, Telecanthus, Ptosis	OMIM:616681
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, ...	OMIM:618280
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Lumbar hyperlordosis, Micrognathia, Sensorineural hearing impairment, R...	OMIM:215150
Myasthenic Syndrome, Congenital, 23, Presynaptic	Ptosis	OMIM:618197
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Pallister-Hall Syndrome	Hemivertebrae, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Atrioventricular ...	ORPHA:672
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Sensori...	OMIM:617751
8Q22.1 Microdeletion Syndrome	Abnormal pinna morphology, Underfolded helix, Craniosynostosis, Short neck, Abnormality of the de...	ORPHA:178303
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Clef...	OMIM:618454
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Sensorineural hearing impairment, Irregular vertebral endplate...	OMIM:609616
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Micrognathia, Pectus carinatum, Abnormal calcification of the carpal bones, Knee flex...	OMIM:271665
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Frontometaphyseal Dysplasia 2	Bicuspid aortic valve, Elbow contracture, Deep philtrum, High palate, Short philtrum, Conductive ...	OMIM:617137
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect, Spina bifida, Tracheomalacia, Micrognathia, Kyphosis...	ORPHA:1393
Noonan Syndrome 9	Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck	OMIM:616559
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion con...	OMIM:300232
Atelosteogenesis Type I	Micrognathia, Malrotation of colon, Abnormal ossification involving the femoral head and neck, Cl...	ORPHA:1190
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Craniosynostosis, Micrognathia, Narrow mouth, Abnormal lung lobation, ...	OMIM:614114
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior...	OMIM:601357
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bones...	OMIM:615349
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Multiple...	ORPHA:66637
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c...	OMIM:259450
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Limited hip movem...	ORPHA:99642
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Kyphoscoliosis, Micrognathia, Platyspondyly, Abnormality of the vertebral colu...	ORPHA:93316
Distal Deletion 15Q	Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Abnormality of the dentition, Do...	ORPHA:1596
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub...	ORPHA:2588
Marden-Walker Syndrome	Hypospadias, Micrognathia, Short neck, Wide anterior fontanel, High, narrow palate, Pyloric steno...	OMIM:248700
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary a...	ORPHA:2326
Desmosterolosis	Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microg...	ORPHA:35107
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Urinary incontinence, Wide anterior fontanel, Congestive heart failure, Kyp...	OMIM:616482
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Patent ductus arteriosus, Coarctation of aorta, Bell-shaped thorax, Atrial septal d...	OMIM:614857
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Ventric...	ORPHA:1458
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Weakness of facial musculature, Ptosis	OMIM:617069
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Flexion contracture, Increased connective tissue, Facial palsy, Ptosis	OMIM:607684
Microphthalmia, Syndromic 2	Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture...	OMIM:300166
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Tetrasomy 9P	Glue ear, Dental crowding, Short neck, Micrognathia, Downturned corners of mouth, High palate, Sh...	ORPHA:3310
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Neonatal death, Scimitar anomaly...	OMIM:608978
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal anat...	ORPHA:2461
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Pectus excavatum, Spinal canal stenosis, Anteriorly ...	OMIM:618624
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid...	OMIM:184100
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior...	ORPHA:85184
Spondylodysplastic Ehlers-Danlos Syndrome	Inguinal hernia, Multiple joint contractures, Corneal opacity, Lymphedema, Posterior subcapsular ...	ORPHA:536471
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Short neck...	ORPHA:1425
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Atelectasis, Flexio...	ORPHA:258
Achondrogenesis, Type Ia	Short neck, Beaded ribs, Abnormal hand bone ossification, Narrow chest, Unossified vertebral bodi...	OMIM:200600
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Bilateral ptosis, Cataract	ORPHA:329314
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, Ptosis	OMIM:616326
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop...	OMIM:616276
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T...	OMIM:253290
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:612530
Coffin-Siris Syndrome 11	Cleft soft palate, Uplifted earlobe, Esophageal atresia, Low posterior hairline, Downturned corne...	OMIM:618779
Coffin-Siris Syndrome 8	Inguinal hernia, Long eyelashes, Thick eyebrow, Ptosis	OMIM:618362
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti...	OMIM:164210
Platyspondylic Dysplasia, Torrance Type	Hypoplastic scapulae, Short thorax, Cleft palate, Platyspondyly, Pulmonary hypoplasia, Low-set ea...	ORPHA:85166
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles,...	OMIM:619698
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspondyly	ORPHA:296
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, S...	OMIM:300990
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Achondrogenesis Type 1A	Thickened nuchal skin fold, Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enc...	ORPHA:93299
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, Ventricular ...	OMIM:612582
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Braddock-Carey Syndrome 1	Aortic valve prolapse, Posteriorly rotated ears, Ventricular septal defect, Hyperlordosis, Pierre...	OMIM:619980
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Mandibular prognathia, Ventricular septal defec...	ORPHA:1908
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Polyhydramnios, Prominent su...	OMIM:615280
Aspergillosis	Sinusitis, Abnormal rib morphology, Intracranial hemorrhage, Abnormality of the vertebral column,...	ORPHA:1163
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Joint stiffness, Thoracic platyspondyly, Osteoarthritis, Limit...	ORPHA:166011
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly	OMIM:609324
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anen...	ORPHA:2189
Sunct Syndrome	Facial edema, Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Ptosis	ORPHA:171706
Focal Dermal Hypoplasia	Anteriorly placed anus, Oligodontia, Spina bifida occulta, Joint laxity, Cleft upper lip, Hiatus ...	OMIM:305600
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Inguinal hernia, Highly arched eyebrow, Upslanted palpebral fissure, A...	OMIM:615834
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit...	OMIM:271650
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Ma...	OMIM:612109
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Polyhydramnios, Highly arched eyebrow, Oligohydramnios, Downslanted palpebr...	OMIM:615476
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula	OMIM:119500
3M Syndrome	Delayed eruption of teeth, Scapular winging, Abnormal dental enamel morphology, Abnormal cerebral...	ORPHA:2616
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Micrognat...	OMIM:613848
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Joint stiffness, Patent ductus arteriosus, Gingival overgrowth, Hypoplastic ve...	OMIM:230600
Congenital Erythropoietic Porphyria	Nonimmune hydrops fetalis, Edema, Scarring, Increased connective tissue, Splenomegaly, Scarring a...	ORPHA:79277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media,...	ORPHA:353281
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus, Th...	OMIM:616294
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Joint stiffness, Osteoa...	ORPHA:1345
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Posteriorly rotated ears, Ventricular septal defect, Wide mouth, Delayed...	OMIM:618506
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral density, Wide mouth...	OMIM:615279
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join...	ORPHA:1159
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Coarctation of aort...	OMIM:163200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short neck, Abnormality of the dentition, Secundum atrial septal defect, Low posterior hairline, ...	OMIM:615802
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Bell-shaped thor...	OMIM:602557
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Death in infancy, Recurrent fractures, Hypoplastic pulmonary ...	OMIM:610682
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hearing impairment	OMIM:617577
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Protruding ear, Atrial septal defect, Micro...	OMIM:613458
Tonne-Kalscheuer Syndrome	Micrognathia, Velopharyngeal insufficiency, Abnormal heart morphology, Downturned corners of mout...	OMIM:300978
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, V...	OMIM:610443
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Hydrocephalus,...	OMIM:187600
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ...	ORPHA:261190
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Anteriorly placed...	ORPHA:1299
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Abnormal lung loba...	ORPHA:264450
Trismus-Pseudocamptodactyly Syndrome	Ptosis	ORPHA:3377
Meester-Loeys Syndrome	Joint hypermobility, Gingival overgrowth, Cervical spine instability, Mitral valve prolapse, Asce...	OMIM:300989
Fish-Eye Disease	Splenomegaly, Corneal opacity, Angina pectoris, Lymphadenopathy	ORPHA:79292
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Short neck, Pectus exca...	ORPHA:247262
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax, Osteoarthritis	ORPHA:93283
Mesomelia-Synostoses Syndrome	Joint stiffness, Aplasia/Hypoplasia of the uvula, High, narrow palate, Micrognathia, Metatarsal s...	ORPHA:2496
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta	OMIM:616069
8P23.1 Microdeletion Syndrome	Short neck, External ear malformation, Micrognathia, Pulmonary artery stenosis, Patent ductus art...	ORPHA:251071
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger,...	OMIM:244300
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho...	OMIM:612921
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Dilated cardiomyopathy, High palate, Narrow mouth, Retrognathia, B...	OMIM:615959
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Hydrocephalus, Thin ribs, Platyspondyly, Low-set ears, Decreased skull ossifica...	OMIM:300863
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Ascher Syndrome	Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology	ORPHA:1253
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Pedal edema, Lymphadenopa...	ORPHA:381
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Atelectasis, Sensorineural he...	ORPHA:728
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Cupped ear, Submucous cl...	OMIM:612863
Freeman-Sheldon Syndrome	Ptosis, Camptodactyly of finger, Polyhydramnios, Hernia, Downslanted palpebral fissures, Oligohyd...	ORPHA:2053
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place...	OMIM:612289
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ...	ORPHA:3236
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Velopharyngeal ...	OMIM:613680
Mosaic Trisomy 9	Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, High palate, Endocardial fibroel...	ORPHA:99776
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Sacral dimple, Hyperextensibility of the finger joints, Ventricular sep...	ORPHA:505237
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm...	ORPHA:79431
Atelosteogenesis, Type I	Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Micrognathia, Thoracic platyspondyly...	OMIM:108720
Noonan Syndrome 8	Ventricular septal defect, Short neck, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abn...	OMIM:615355
Short Stature, Brussels Type	Microretrognathia, Narrow chest, Calcification of cartilage, Horseshoe kidney	ORPHA:2867
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c...	ORPHA:2839
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Short neck, Abnormal heart morphology, Downturn...	ORPHA:369891
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Pseudomyxoma Peritonei	Ascites, Hernia, Lymphadenopathy	ORPHA:26790
Proteus Syndrome	Thymus hyperplasia, Cataract, Central heterochromia, Abnormal dental enamel morphology, Sudden ca...	ORPHA:744
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotat...	OMIM:612813
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Sacral dimple, Fetal intraventricular hemorrhage, High palate, Low-set ...	OMIM:618480
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m...	OMIM:313400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Tented upper lip vermilion, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, T...	ORPHA:457395
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Abnormal scapula morp...	ORPHA:464329
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Cleft soft...	OMIM:614557
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Micrognathia, Pierre-Robin sequence, Dilated cardiomyopa...	OMIM:614921
Roifman Syndrome	Thin upper lip vermilion, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular se...	OMIM:616651
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Protruding ear, Widely sp...	OMIM:612474
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Short neck, Micrognathia, Narrow chest, Atrial septal defect, Conductive heari...	OMIM:304120
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies,...	OMIM:611717
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p...	OMIM:615524
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Short neck, Microg...	OMIM:158170
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Short neck, Missing ribs, Hydrocephalus, Abnormality of the ureter, Tracheoesophage...	ORPHA:1834
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia...	ORPHA:79255
Ring Chromosome 1 Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1437
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Esophageal atresia, Coarctation of aorta, Abnormal heart...	ORPHA:2209
Sézary Syndrome	Splenomegaly, Ectropion, Edema, Lymphadenopathy	ORPHA:3162
Geroderma Osteodysplastica	Mandibular prognathia, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnorma...	ORPHA:2078
Porphyria, Congenital Erythropoietic	Absent eyebrow, Splenomegaly, Loss of eyelashes, Corneal scarring, Atypical scarring of skin, Con...	OMIM:263700
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Weakness of facial musculature, Ptosis	OMIM:618637
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu...	ORPHA:1330
Desbuquois Dysplasia 1	Joint laxity, Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosi...	OMIM:251450
Ogden Syndrome	Abnormal eyelid morphology, Lymphedema, Ventricular tachycardia, Supraventricular tachycardia, Sp...	OMIM:300855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Shoulder flexion contracture, Achilles tendon contracture, Elbow ...	OMIM:619566
Morquio Syndrome C	Platyspondyly	OMIM:252300
Oculopharyngodistal Myopathy 2	Weakness of facial musculature, Ptosis	OMIM:618940
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Ventricular septal defect, Kyphoscoliosis, Cleft palate, L...	OMIM:614815
Temple Syndrome	Hydrocephalus, Bifid uvula, Scoliosis	ORPHA:254516
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Micrognath...	ORPHA:2959
Frontoocular Syndrome	Epicanthus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Pulmonic stenosis, B...	OMIM:605321
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Narrow palpebral fissure, Prominent supraorbital ridges, Ptosis	OMIM:301900
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Narrow chest, Abnormal vertebral segmentation and fusion...	ORPHA:90652
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Abnormality of the urethra, Abnormal rib morphology, Cleft palate, Abnormal antihel...	ORPHA:2145
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Aplasia...	OMIM:617088
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen...	OMIM:606164
Kury-Isidor Syndrome	Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Wi...	OMIM:619762
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis, Ectopia lentis	OMIM:110150
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding,...	OMIM:309520
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Hypertensi...	ORPHA:1435
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosynostosis, High palate, Broa...	OMIM:314320
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Heterochromia iridis, Ptosis	ORPHA:1390
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Marshall Syndrome	Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Pierre-Robin sequence,...	OMIM:154780
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hy...	ORPHA:958
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Conotruncal defect, Coarctation of aorta, Downturned corners of mouth, Macrogl...	ORPHA:96147
Terminal Osseous Dysplasia	Epicanthus, Telecanthus, Multiple joint contractures, Camptodactyly of finger, Upslanted palpebra...	OMIM:300244
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Short neck, Non-midline cle...	ORPHA:1752
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Loeys-Dietz Syndrome	Camptodactyly of finger, Craniosynostosis, Arterial tortuosity, Pectus excavatum, Micrognathia, P...	ORPHA:60030
Congenital Disorder Of Glycosylation, Type Iio	Ptosis, Splenomegaly, Downslanted palpebral fissures, Hepatosplenomegaly	OMIM:616828
Campomelia, Cumming Type	Oligohydramnios, Hydrops fetalis, Lymphedema	ORPHA:1318
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Short neck, Thoracolumbar kyphoscoliosis, Diastema, Gingival o...	OMIM:212066
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Long philtrum, Atrial septal d...	OMIM:619189
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Cond...	OMIM:244400
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Narrow ches...	OMIM:187601
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Segawa Syndrome, Autosomal Recessive	Ptosis	OMIM:605407
Suleiman-El-Hattab Syndrome	Microretrognathia, Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal...	OMIM:618950
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Stickler Syndrome, Type Vi	Astigmatism, Downslanted palpebral fissures, Ptosis	OMIM:620022
Juvenile Nasopharyngeal Angiofibroma	Facial edema, Epistaxis	ORPHA:289596
Waardenburg Syndrome, Type 3	Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel...	OMIM:148820
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Pec...	OMIM:115150
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Long neck, Kyp...	ORPHA:1724
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmo...	OMIM:620233
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Pectus carinatum, Downturned corners of mouth, Periodontiti...	ORPHA:955
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl...	OMIM:216300
Robinow Syndrome, Autosomal Recessive 2	Posteriorly rotated ears, Cleft soft palate, Bicuspid aortic valve, Abnormality of the dentition,...	OMIM:618529
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os...	ORPHA:99742
Fibrochondrogenesis 2	Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Malar flattening, Thora...	OMIM:614524
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion...	OMIM:618974
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Low posterior hairline, Vertebral segmentation defect, Heari...	ORPHA:2578
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Weakness of facial musculature, Ptosis	OMIM:616324
Native American Myopathy	Joint laxity, Submucous cleft soft palate, Micrognathia, Cleft palate, Abnormal curvature of the ...	ORPHA:168572
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Weakness of facial musculature, Arthrogryposis multiplex congenita, Facial palsy, Ptosis	OMIM:608930
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy...	OMIM:607326
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Flexion contracture, Joint contracture of the hand, High palate, Arthrogryposis ...	OMIM:601110
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Proteasome-Associated Autoinflammatory Syndrome 4	Edema, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Lymphadenopathy, Panniculitis	OMIM:619183
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Myocardial infarction, Micrognathia, Intracranial hemorr...	ORPHA:740
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Pectus...	OMIM:606851
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar...	OMIM:220500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydroc...	ORPHA:77298
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Noonan Syndrome 4	Atrial septal defect, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Ventricular...	OMIM:610733
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Webbed neck, Anteriorly placed anus, Downturne...	OMIM:616894
Ogden Syndrome	Microretrognathia, Torticollis, Everted upper lip vermilion, Ventricular septal defect, High, nar...	ORPHA:276432
Kabuki Syndrome 1	Micrognathia, Protruding ear, High palate, Atrial septal defect, Abnormal vertebral morphology, R...	OMIM:147920
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, High palate, Conductive hearing impairment, Premature loss ...	OMIM:102500
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Tethered cord, Mitral atresia, Patent ductus art...	OMIM:618164
Myasthenic Syndrome, Congenital, 12	Facial palsy, Ptosis	OMIM:610542
Leprosy	Absent eyebrow, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Paralytic lagophthalmos,...	ORPHA:548
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, R...	ORPHA:583
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Micrognathia, Widely spaced teeth, High palate, Narrow chest, Microdontia...	OMIM:266920
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Blepharophimosis, Telecanthus, Hyperopic astigmatism, Ptosis	ORPHA:397973
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hype...	OMIM:614034
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Hypoplasia of the odontoid process, Abnormality of the vert...	ORPHA:239
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Ectopic kidney, Cleft upper lip, Cleft palate, Abnormality of the vertebral column,...	OMIM:239800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Retro...	OMIM:618142
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Elbow ankylosis, Bifid uvula, Increased bone mineral ...	ORPHA:2658
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Inguinal hernia, Ptosis	ORPHA:2958
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defect, Inc...	OMIM:620183
Legius Syndrome	Epicanthus, Supravalvar pulmonary stenosis, Multiple lipomas, Downslanted palpebral fissures, Ptosis	OMIM:611431
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Short neck, Micrognathia, Cl...	ORPHA:124
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Pulmonary edema	ORPHA:70587
Whim Syndrome	Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection...	ORPHA:51636
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Aganglionic megacolon, Intraventricular ...	OMIM:613603
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ...	ORPHA:90363
Steinfeld Syndrome	Abnormal pinna morphology, Hearing impairment, Missing ribs, Abnormal heart morphology, Abnormali...	OMIM:184705
Methimazole Embryofetopathy	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A...	ORPHA:1923
Donnai-Barrow Syndrome	Posteriorly rotated ears, Intestinal malrotation, Ventricular septal defect, Wide anterior fontan...	ORPHA:2143
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Sc...	ORPHA:624
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Schwartz-Jampel Syndrome	Short neck, Micrognathia, Pectus carinatum, High palate, Wrist flexion contracture, Low-set, post...	ORPHA:800
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Atrial septal defect, Dilation of Virchow-Robin ...	OMIM:300998
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin...	ORPHA:93351
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, Increased density of ...	OMIM:305620
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra...	ORPHA:70588
Spinal Muscular Atrophy, X-Linked 2	Inguinal hernia, Multiple joint contractures, Facial palsy, Flexion contracture, Arthrogryposis m...	OMIM:301830
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Meier-Gorlin Syndrome 7	Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial septal defect, Joint l...	OMIM:617063
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Knee flexion cont...	OMIM:210710
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multi...	OMIM:223800
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, Op...	ORPHA:79280
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Short philt...	OMIM:619121
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Pectus excavatum, Mitral valve prolapse, Pectus carinatum, Dural ectasi...	OMIM:616166
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Splenomegaly, Panniculitis	OMIM:618398
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Myasthenic Syndrome, Congenital, 10	Weakness of facial musculature, Ptosis	OMIM:254300
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint...	ORPHA:96061
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Re...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Re...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Re...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Re...	ORPHA:881
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Ventricular septal defect, Short neck, Nar...	ORPHA:1780
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Monosomy 22Q13.3	Epicanthus, Palpebral edema, Lymphedema, Long eyelashes, Umbilical hernia, Thick eyebrow, Ptosis	ORPHA:48652
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Hypo...	ORPHA:85199
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Tented upper lip vermilion, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Pl...	OMIM:616723
Sotos Syndrome	Joint laxity, Atrial septal defect, Mandibular prognathia, Posteriorly rotated ears, Ventricular ...	OMIM:117550
Kapur-Toriello Syndrome	Posteriorly rotated ears, Intestinal malrotation, Ventricular septal defect, Short neck, Patent d...	ORPHA:2328
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Craniosynostosis, Short neck, External ear malfo...	ORPHA:254346
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Intestinal malrotation, Missing ribs, Micrognathia, Hydrocephalus, Vert...	OMIM:617866
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon	OMIM:619194
Classic Homocystinuria	Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Pectus excavatum, Kyphosis, Eso...	ORPHA:394
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Osteoporosis, ...	ORPHA:447980
Floating-Harbor Syndrome	Short neck, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microdontia, Condu...	OMIM:136140
Spondyloocular Syndrome	Osteopenia, Posteriorly rotated ears, Duodenal ulcer, Abnormality of the dentition, Sensorineural...	OMIM:605822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Joint contracture, Cataract, Ptosis	OMIM:615351
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Intestinal polyposis, Micrognathia, Increased nuchal transluce...	ORPHA:1052
Paroxysmal Hemicrania	Hypertension, Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:157835
Prieto Syndrome	Epicanthus, Inguinal hernia, Ptosis	OMIM:309610
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Pulsatile tinnitus, Cerebral hemorrhage, Elevated urinary norepinephrine level, Cong...	ORPHA:276621
Intellectual Developmental Disorder With Autism And Macrocephaly	Downslanted palpebral fissures, Prominent supraorbital ridges, Ptosis	OMIM:615032
Arthrogryposis, Distal, Type 2B3	Downslanted palpebral fissures, Camptodactyly, Ptosis	OMIM:618436
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Missing ribs, Carious teeth, Kyphosis, Abnormal zygomat...	ORPHA:2769
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Ptosis	OMIM:169100
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Cleft soft palate, Short neck, Micrognathia, Patent ductus arte...	ORPHA:2282
Tyshchenko Syndrome	Posteriorly rotated ears, Ventricular septal defect, Pectus excavatum, High, narrow palate, Narro...	OMIM:615102
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorine...	OMIM:618652
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Sacral dimple, Atrial septal defect,...	ORPHA:363611
Neuropathy, Hereditary Motor And Sensory, Russe Type	Claw hand deformity, Ptosis	OMIM:605285
Cockayne Syndrome B	Developmental cataract, Microcornea, Hypoplasia of the iris, Abnormality of skin pigmentation, Pi...	OMIM:133540
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym...	ORPHA:2902
Hardikar Syndrome	Ventricular septal defect, Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Ce...	OMIM:301068
Zellweger Syndrome	Thickened nuchal skin fold, Death in infancy, Ventricular septal defect, Malabsorption, External ...	ORPHA:912
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Posteriorly rotated ears, Ventricular septal defect, Protruding tongue, Micr...	OMIM:214100
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Facial palsy, Ptosis	OMIM:616322
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Thin upper lip vermilion, Overriding aorta, Abnormal pinna morphology, Bicuspid aor...	ORPHA:477817
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Tented upper lip vermilion, Ventricular septal defect, Uplifted earlobe, Ky...	OMIM:616449
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Abnormal pinna morphology, Micrognathia, Short neck, Wide anterior fontanel, Patent ...	OMIM:217980
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Atrial septal defect, Limited elbow extension and supinat...	ORPHA:401935
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Grant Syndrome	Micrognathia, Open bite, Abnormal cortical bone morphology, Abnormal rib morphology, Decreased sk...	ORPHA:2097
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Tortuosity of conjunctival ves...	OMIM:609242
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip,...	ORPHA:1335
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Anteriorly placed an...	OMIM:602535
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Intellectual Developmental Disorder, Autosomal Dominant 23	Synophrys, Upslanted palpebral fissure, Astigmatism, Downslanted palpebral fissures, Ptosis	OMIM:615761
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Pectus...	OMIM:184252
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Synophrys, Long eyelashes, Hypertrophic cardiomyopathy, Downslanted palpeb...	OMIM:300590
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Posteriorly rotated ears, Ventricular septal defect, Craniosynostosis, Megar...	OMIM:301056
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Microsco...	ORPHA:84090
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Macrocephaly-Developmental Delay Syndrome	Downslanted palpebral fissures, Narrow palpebral fissure, Palpebral edema, Hepatosplenomegaly	ORPHA:397612
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Trisomy 1Q	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Increased nuchal transluce...	ORPHA:261344
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Triploidy	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micr...	ORPHA:3376
Congenital Myopathy 1B, Autosomal Recessive	Facial palsy, Polyhydramnios, Increased connective tissue, Hydrops fetalis, Ptosis	OMIM:255320
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, High palate,...	OMIM:619995
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Cleft upper lip, Patent duct...	OMIM:249000
Congenital Tracheomalacia	Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Esophageal atresia, Patent ductu...	ORPHA:95430
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Epicanthus, Cataract, Pericallosal lipoma, Camptodactyly, Joint contrac...	OMIM:136760
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Meckel diverticulum, Death in infancy, Ventricular septal defect, Spina bifida...	OMIM:274000
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Camptodactyly of finger, Superior rectus atrophy, Levator palpebrae superioris atro...	OMIM:600638
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive...	ORPHA:2751
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:616325
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Abnormal heart valve morphology, Short neck, Joint stiffness, K...	OMIM:230500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Arthrogryposis, Distal, Type 5	Keratoconus, Epicanthus, Keratoglobus, Astigmatism, Distal arthrogryposis, Congenital finger flex...	OMIM:108145
Congenital Arthrogryposis With Anterior Horn Cell Disease	Facial diplegia, Arthrogryposis multiplex congenita, Downslanted palpebral fissures, Ptosis	OMIM:611890
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification...	OMIM:271640
Fazio-Londe Disease	Facial diplegia, Ptosis	OMIM:211500
Cockayne Syndrome Type 3	Adult onset sensorineural hearing impairment, Conductive hearing impairment, Renal hypoplasia, Ca...	ORPHA:90324
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Microphthalmia, Generalized hypopigmentation	OMIM:617306
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Delayed ossifi...	OMIM:618395
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta...	OMIM:217085
C Syndrome	Fused sternal ossification centers, Posteriorly rotated ears, Ventricular septal defect, Accessor...	OMIM:211750
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion	ORPHA:85414
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Edema, Developmental cataract, Hepatosp...	ORPHA:93400
Galloway-Mowat Syndrome 3	Hiatus hernia, Pectus excavatum, Micrognathia, Coarctation of aorta, High palate, Low-set ears, N...	OMIM:617729
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal def...	OMIM:618027
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Hyperlordosis, Limitation of joint mobility...	ORPHA:3068
Warburg Micro Syndrome 1	Microcornea, Ptosis, Developmental cataract	OMIM:600118
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Multiple suture craniosynostosis, B...	ORPHA:3369
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Nicolaides-Baraitser Syndrome	Recurrent respiratory infections, Thin upper lip vermilion, Posteriorly rotated ears, Short lingu...	OMIM:601358
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic ...	OMIM:616652
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal...	ORPHA:261330
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis	OMIM:616321
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Sh...	OMIM:614294
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Atrioventricular block, Abnormal form of the vertebral bodies, Otit...	ORPHA:581
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Cleft palate, Still...	OMIM:200610
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Hearing abnormali...	OMIM:616507
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi...	OMIM:613717
Noonan Syndrome 6	Epicanthus, Long eyebrows, Edema, Polyhydramnios, Bilateral ptosis, Pulmonic stenosis, Hypertroph...	OMIM:613224
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Ptosis	OMIM:614198
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis	OMIM:617268
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Knobloch Syndrome 1	Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina...	OMIM:267750
Acute Generalized Exanthematous Pustulosis	Facial edema, Conjunctivitis, Lymphadenopathy	ORPHA:293173
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus, Recurre...	OMIM:243700
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Atrial septal defect, Decreased skull ossi...	ORPHA:1662
Jansen-De Vries Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal def...	OMIM:617450
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Posteriorly rotated ears, Pectus excavatum, Kyphosis, Conductive hearing...	ORPHA:2215
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Micrognathia, Absent earlobe, Na...	OMIM:130070
Prader-Willi Syndrome Due To Translocation	Recurrent respiratory infections, Thin upper lip vermilion, Short neck, Carious teeth, Micrognath...	ORPHA:177907
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Knee flexion contracture, Flexion contracture, Facial palsy, Ptosis	OMIM:616313
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Joubert Syndrome 26	Ptosis	OMIM:616784
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Sensorineural hearing impairment, Pulmonic stenosis, Coarctation o...	OMIM:614300
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Int...	OMIM:270100
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Bilateral ptosis, Astigmatism	OMIM:620021
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Lymphedema	ORPHA:2874
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla...	OMIM:619131
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Enlargem...	OMIM:619636
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Hypoplasia ...	OMIM:214110
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardia...	ORPHA:906
11Q22.2Q22.3 Microdeletion Syndrome	Epicanthus, Thick eyebrow, Ptosis	ORPHA:444002
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T...	OMIM:166210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Long-chain dicarboxylic acid...	OMIM:608836
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s...	OMIM:300967
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Abnormal intervertebral disk morpholo...	ORPHA:887
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis	OMIM:258470
Proximal Xq28 Duplication Syndrome	Blepharophimosis, Epicanthus, Hernia of the abdominal wall, Ptosis	ORPHA:1762
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Recurrent...	OMIM:169400
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Ptosis	ORPHA:2743
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Platyspo...	OMIM:608728
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Flexio...	OMIM:620369
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353277
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Small bowel diverticula, Redundant neck skin, Dilatation of the ventric...	ORPHA:90348
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent te...	OMIM:614091
Occipital Horn Syndrome	Joint laxity, Hiatus hernia, Broad clavicles, Long neck, Kyphosis, Pectus excavatum, Osteoporosis...	OMIM:304150
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Pate...	OMIM:608328
Schimke Immuno-Osseous Dysplasia	Short neck, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ...	ORPHA:1830
Childhood-Onset Nemaline Myopathy	Polyhydramnios, Flexion contracture, Cardiomyopathy, Facial diplegia, Arthrogryposis multiplex co...	ORPHA:171439
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular...	OMIM:615996
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Bicuspid aortic valve, Hearing impairment, Ventricular septal defect, Cu...	OMIM:618619
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Achondroplasia	Death in infancy, Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Hydrocep...	OMIM:100800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular...	ORPHA:369929
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Abnormality of the dentition, Pectus excavatum, Wide mouth, Thick vermilio...	OMIM:618505
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased skull ossification, Cra...	OMIM:618476
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov...	OMIM:252930
Sclerosteosis	Facial palsy, Ptosis	ORPHA:3152
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, B...	OMIM:270400
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:403
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
Fucosidosis	Cervical platyspondyly, Recurrent respiratory infections, Barrel-shaped chest, Lumbar hyperlordos...	OMIM:230000
Opitz Gbbb Syndrome	Anal atresia, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Clef...	OMIM:300000
Stankiewicz-Isidor Syndrome	Sacral dimple, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Low-set ears, T...	OMIM:617516
Costello Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Ventricular septal defect, Abnorma...	ORPHA:3071
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva...	ORPHA:79
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis	ORPHA:589905
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Spatulate ribs, Hypoplasia of the odon...	OMIM:177170
Fanconi Anemia	Micrognathia, Reduced bone mineral density, High palate, Atrial septal defect, Spina bifida, Apla...	ORPHA:84
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Sensorineural hearing impairment, Pectus carinatum, Low-set ears, Lo...	OMIM:616430
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, ...	OMIM:242900
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy	ORPHA:1101
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, High palate	OMIM:620278
Chromosome 1P36 Deletion Syndrome, Proximal	Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Cleft l...	OMIM:619343
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Abnormal rib morphology, Abnormal form of...	ORPHA:3258
Otosclerosis 10	Otosclerosis	OMIM:615589
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Tinnitus	ORPHA:251274
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Encephalocele, Hamartoma of tongue, Horizontal ribs, Cleft lip, P...	OMIM:616300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Recurrent fractures, Abnormal rib m...	ORPHA:2772
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arterio...	OMIM:613870
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ptosis	OMIM:617070
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho...	ORPHA:251028
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Short philtrum, High palate, Atr...	ORPHA:96121
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Ventricular septal defect, Macrotia, Hemivertebrae, Abnorma...	OMIM:118450
Hurler Syndrome	Recurrent respiratory infections, Abnormal clavicle morphology, Death in infancy, Abnormal heart ...	ORPHA:93473
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, High, narrow ...	OMIM:619312
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Marfan Syndrome	Flat cornea, Ectopia lentis, Lens luxation, Hypoplasia of the iris, Lens subluxation	ORPHA:558
Harlequin Ichthyosis	Dehydration, Cataract, Sudden cardiac death, Ectropion	ORPHA:457
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Pulmonic stenosis, Ptosis	OMIM:618499
Refsum Disease	Cataract, Heart block, Splenomegaly, Cardiomyopathy, Ptosis	ORPHA:773
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Missing ribs, Micrognathia, Hydrocephalus, Abnormal lung lobation,...	ORPHA:3301
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Joint con...	OMIM:208230
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Thin ribs, Abnormal renal corticomedullary differe...	OMIM:617397
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Menkes Disease	Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Micrognath...	ORPHA:565
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba...	OMIM:252900
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Atrial septal defect, Tented upper lip vermilion, Exaggerated cupid's bow,...	ORPHA:464738
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusori...	OMIM:620294
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A...	ORPHA:2753
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Ptosis	OMIM:619046
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir...	ORPHA:2554
Autosomal Dominant Spastic Ataxia Type 1	Ptosis, Abnormal eyelid morphology	ORPHA:251282
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no...	OMIM:170390
Mcdonough Syndrome	Synophrys, Prominent supraorbital ridges, Short palpebral fissure, Ptosis	ORPHA:2471
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Myopathy, Centronuclear, 2	Facial palsy, Flexion contracture, Oligohydramnios, Ptosis	OMIM:255200
X Small Rings	Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short n...	ORPHA:96201
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:404
Idiopathic Congenital Hypothyroidism	Facial edema, Umbilical hernia, Bradycardia	ORPHA:95717
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, Wide mou...	OMIM:617260
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Ptosis	OMIM:254210
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Short neck, Tarsal synostosis, Micrognathia, Long phi...	ORPHA:2756
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Flexion co...	OMIM:147800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Atrial septal defe...	OMIM:620186
Riboflavin Transporter Deficiency	Ptosis, Hypertension, Facial palsy, Iris hypopigmentation	ORPHA:97229
Opsismodysplasia	Recurrent respiratory infections, Posteriorly rotated ears, Anterior rib cupping, Short neck, Hyp...	OMIM:258480
Cat-Eye Syndrome	Abnormal rib morphology, Hydronephrosis, Anal atresia, Hearing impairment	ORPHA:195
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Shoulder d...	OMIM:143095
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, Facial palsy, Ptosis	OMIM:608931
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ...	OMIM:617468
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi...	OMIM:164220
Mucopolysaccharidosis, Type Vi	Pectus carinatum, Broad ribs, Anterior wedging of L1, Tricuspid regurgitation, Lumbar hyperlordos...	OMIM:253200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl...	ORPHA:567546
Cartilage-Hair Hypoplasia	Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Abnormal bone ...	ORPHA:175
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Increased susceptib...	OMIM:609220
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Platyspondyly, Osteosc...	ORPHA:174
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, High palate, Short philtrum, Tetral...	ORPHA:3306
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Abnormal coronary ...	ORPHA:980
Holoprosencephaly	Short neck, Deep philtrum, Abnormal form of the vertebral bodies, Holoprosencephaly, Encephalocel...	ORPHA:2162
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Thoracic aortic aneurysm, Posteriorly rotated ears, Intestinal malrotation,...	OMIM:619657
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Atrial septal defect, Posteriorly rotated ears, Bicuspid aortic valve, ...	OMIM:610759
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pr...	OMIM:314400
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conducti...	ORPHA:861
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, P...	ORPHA:828
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormality of the orbital r...	ORPHA:79078
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Epicanthus, Ptosis	ORPHA:1825
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Lateral...	OMIM:263520
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septal defect, Conduct...	ORPHA:2044
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Pate...	OMIM:277600
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension...	ORPHA:90065
Hereditary Angioedema Type 1	Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of hands, Facial edema, Lar...	ORPHA:100050
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lymphedema	ORPHA:2822
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Pulmonary arterial hypertension, Asc...	OMIM:620244
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar...	ORPHA:46627
Mgat2-Cdg	Low-set, posteriorly rotated ears, Osteopenia, Posteriorly rotated ears, Dental crowding, Ventric...	ORPHA:79329
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Posteriorly rotated ears, Ventricular septal defect, Camptodact...	ORPHA:3047
Kyphomelic Dysplasia	Anterior rib cupping, Cleft upper lip, Lateral clavicle hook, Micrognathia, Limitation of joint m...	OMIM:211350
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Thickened nuchal skin fold, Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral di...	ORPHA:2636
Distal Duplication 6P	Cataract, Abnormal eyelash morphology, Hernia, Blepharophimosis, Ptosis	ORPHA:1745
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Aarskog-Scott Syndrome	Epicanthus, Inguinal hernia, Camptodactyly of finger, Congestive heart failure, Umbilical hernia,...	ORPHA:915
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,...	OMIM:218040
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm...	ORPHA:2710
Mevalonic Aciduria	Cataract, Edema, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Nuclear cataract,...	OMIM:610377
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Thin ver...	OMIM:241410
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Spina bifida, Hyperlord...	OMIM:234100
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Vertigo, Intracranial hemorrhage, Hematuria, Oral cavity ...	ORPHA:324636
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Pulsatile tinnitus, Cerebral hemorrhage, Elevated urinary norepinephrine level, Cong...	ORPHA:29072
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M...	OMIM:618021
Alpha-Mannosidosis, Infantile Form	Osteopenia, Communicating hydrocephalus, Mandibular prognathia, Thickened ribs, Short neck, Pectu...	ORPHA:309282
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent...	ORPHA:193
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Gingival bleeding, Cerebral hemorrhage	ORPHA:98880
Purpura Simplex	Epistaxis, Ptosis	OMIM:179000
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism	OMIM:154700
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Raine Syndrome	Mandibular prognathia, Micrognathia, Short neck, Protruding ear, High palate, Microdontia, Neonat...	OMIM:259775
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Downslanted palpebral fiss...	ORPHA:2969
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Camptodactyly o...	ORPHA:261337
Bent Bone Dysplasia Syndrome 2	Thickened nuchal skin fold, Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspon...	OMIM:620076
Noonan Syndrome 5	Epicanthus, Polyhydramnios, Sparse eyebrow, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyo...	OMIM:611553
Mirage Syndrome	Hypospadias, Esophageal stricture, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrha...	OMIM:617053
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiph...	OMIM:226980
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry...	ORPHA:2771
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae...	OMIM:224690
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis	OMIM:619239
Borjeson-Forssman-Lehmann Syndrome	Cataract, Prominent supraorbital ridges, Blepharophimosis, Camptodactyly of toe, Thick eyebrow, P...	ORPHA:127
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fus...	OMIM:109400
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Abnormality of the dent...	OMIM:617952
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Joint hypermobility, Cardiomegaly, Pectus excavatum, Low posterior hairline, Thin rib...	ORPHA:2463
Teebi-Shaltout Syndrome	Ventricular septal defect, Pectus excavatum, High, narrow palate, Cleft palate, Pectus carinatum,...	OMIM:272950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Tracheomalacia, Micrognathia, Abnormality...	ORPHA:513456
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Ptosis	ORPHA:83619
Iatrogenic Botulism	Ptosis, Orthostatic hypotension, Xerostomia, Mydriasis	ORPHA:254509
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Ather...	OMIM:614008
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Conjunctivitis...	OMIM:612843
Fibrosis Of Extraocular Muscles, Congenital, 1	Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph...	OMIM:135700
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Micrognathia, Congenital sensorineural hearing impairm...	ORPHA:293967
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto...	ORPHA:94066
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, High palate, Thick...	OMIM:620113
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Neuropathy, Congenital Hypomyelinating, 3	Ptosis, Epicanthus, Limb joint contracture, Polyhydramnios, Flexion contracture, Facial diplegia,...	OMIM:618186
Meckel Syndrome	Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Microcornea, Aplasia/Hyp...	ORPHA:564
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hemivertebrae, Holoprosencephaly, Pulmonary artery a...	OMIM:214800
Ophthalmoplegia, External, And Myopia	Ptosis	OMIM:311000
Intestinal Botulism	Ptosis, Xerostomia, Mydriasis	ORPHA:178481
Erythrocytosis, Familial, 1	Vertigo, Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Ventricular septal defect, Hydrocephalus, Large earlobe, Smooth philtrum	OMIM:602501
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Lymphedema	OMIM:613089
Witteveen-Kolk Syndrome	Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Intracranial hemorrhage, Short p...	OMIM:613406
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph...	ORPHA:77301
Pallister-Killian Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Flexion contracture, Anteriorly placed anus...	OMIM:601803
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Joint stiffness,...	OMIM:614961
17Q11 Microdeletion Syndrome	Osteopenia, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebral arter...	ORPHA:97685
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Mandibular prognathia, Hyperlordosis, Short neck, Hypoplasia of the odontoid...	OMIM:615222
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopa...	ORPHA:199241
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Vesicoureteral reflux, Nephropathy, Posterior helix ...	ORPHA:116
Congenital Myopathy 19	Congenital contracture, Facial hypotonia, Ptosis	OMIM:618578
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microretrognathia, Ventricular septa...	ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide m...	OMIM:618106
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Short neck, Micrognathi...	ORPHA:1655
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscol...	OMIM:607944
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Redundant neck skin, Posteriorly rotated ears, Craniosynostosis, Hydrocephalus, Ging...	OMIM:123790
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati...	ORPHA:3097
Juberg-Hayward Syndrome	Abnormal rib morphology, Orofacial cleft, Anteriorly placed anus, Radioulnar synostosis, Scoliosi...	ORPHA:2319
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Pectus excava...	OMIM:252100
X-Linked Intellectual Disability, Shashi Type	Blepharophimosis, Palpebral edema, Prominent supraorbital ridges	ORPHA:85286
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Recurr...	ORPHA:2050
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Clef...	OMIM:613309
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Birk-Barel Syndrome	Microretrognathia, Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submuc...	OMIM:612292
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia o...	OMIM:106260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Chops Syndrome	Ventricular septal defect, Tracheomalacia, High, narrow palate, Patent ductus arteriosus, Anomalo...	OMIM:616368
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes	OMIM:258360
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Downslanted palpebral fissures, Astigmatism, Long eyelashes, Ptosis	OMIM:617523
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul...	OMIM:211380
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi...	OMIM:614077
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	ORPHA:3038
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619989
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Trisomy 5P	Ptosis	ORPHA:1742
Spinocerebellar Ataxia, Autosomal Recessive 32	Hypomimic face, Ptosis	OMIM:619862
Parkes Weber Syndrome	Abnormal bleeding, Back pain, Peripheral arteriovenous fistula, Cerebral arteriovenous malformati...	ORPHA:90307
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Meningocele	ORPHA:2481
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Posteriorly rotated ears, Exaggerat...	OMIM:608670
Cat Eye Syndrome	Micrognathia, Atrial septal defect, Patent ductus arteriosus, Total anomalous pulmonary venous re...	OMIM:115470
Galloway-Mowat Syndrome 7	Ventricular septal defect, Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft lip, Dilated car...	OMIM:618348
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Submucou...	ORPHA:1071
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Ventricular septal defect, Increased nuchal translucency, Wide mouth, Scoliosis, Wi...	OMIM:617635
45,X/46,Xy Mixed Gonadal Dysgenesis	Low-set, posteriorly rotated ears, Bicuspid aortic valve, Micrognathia, Pectus excavatum, Low pos...	ORPHA:1772
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Joint laxity, Posteriorly rotated ears, Micrognathia, Celiac...	OMIM:619325
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Oculopharyngeal Muscular Dystrophy	Ptosis	ORPHA:270
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno...	ORPHA:231625
Pontocerebellar Hypoplasia, Type 16	Cataract, Ptosis	OMIM:619527
Noonan Syndrome 3	Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Sagittal craniosynosto...	OMIM:609942
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Cleft palate, Protruding ear, Pulmo...	OMIM:619123
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Kyphosis, Dilated cardiomyopathy, Protruding ear, Wide m...	ORPHA:261250
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Abnormal palate morphology	ORPHA:1506
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger, Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:1707
Spinocerebellar Ataxia Type 28	Ptosis	ORPHA:101109
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Atrial septal defect, Ventricular septal d...	OMIM:614609
Down Syndrome	Redundant neck skin, Atrial septal defect, Conductive hearing impairment, Atrioventricular canal ...	OMIM:190685
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Ptosis	OMIM:615917
Myopathy, Centronuclear, 1	Flexion contracture, Facial palsy, Ptosis	OMIM:160150
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Ptosis	OMIM:255310
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Pulmonary hypoplasia, Low-...	OMIM:617895
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard...	OMIM:619103
Refsum Disease, Classic	Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia, Ptosis	OMIM:266500
Koolen-De Vries Syndrome Due To A Point Mutation	Pectus carinatum, Protruding ear, Vesicoureteral reflux, Abnormal dental morphology, Hypospadias,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pectus carinatum, Protruding ear, Vesicoureteral reflux, Abnormal dental morphology, Hypospadias,...	ORPHA:363958
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:2057
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Amyotrophy, Hereditary Neuralgic	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	OMIM:162100
Congenital Myopathy 6 With Ophthalmoplegia	Congenital contracture, Ptosis	OMIM:605637
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Palpitations, Fac...	ORPHA:100085
Lassa Fever	Shock, Conjunctivitis, Facial edema	ORPHA:99824
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Combined Oxidative Phosphorylation Deficiency 33	Ptosis, Cardiac arrest, Cardiomyopathy, Astigmatism, Cerebral edema, Oligohydramnios	OMIM:617713
Spondyloperipheral Dysplasia	Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairme...	OMIM:271700
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Sagittal crani...	OMIM:145420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Posteriorly rotated ears, Ventricular septal defect, Kyphoscoliosis, Protr...	OMIM:301040
Infant Botulism	Mydriasis, Cardiac arrest, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ptosis	ORPHA:178478
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Ptosis	OMIM:520000
Myasthenia Gravis	Facial palsy, Thymoma, Ptosis	OMIM:254200
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Intellectual Developmental Disorder, Autosomal Dominant 34	Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Oligohydramnios	OMIM:616351
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Micrognathia, Ao...	OMIM:620025
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Pectus excavatum, Hydrocephalus, Hypoplastic aortic arch, Scoliosis, Open mouth, Joint hypermobility	ORPHA:457284
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Weakness of facial musculature, Ptosis	OMIM:616228
Hemorrhagic Fever-Renal Syndrome	Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia...	ORPHA:340
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral...	OMIM:301069
Orofacial Cleft 13	Oligodontia, Retrognathia, Cleft soft palate, Micrognathia	OMIM:613857
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Tricuspid regurgitation, Highly arched eyebrow, Absent eyel...	ORPHA:228396
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm, Ptosis	OMIM:618238
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage, Thin ribs	OMIM:615368
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pneumonia, Kyphosis, Vasculitis, Dental malocclusion, Pectus carinatum...	ORPHA:1855
Congenital Myopathy With Myasthenic-Like Onset	Multiple joint contractures, Ptosis	ORPHA:424107
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor...	ORPHA:93941
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormal pinna morphology, Ventricular septal defect, Pulmonary artery stenosis, Everted lower li...	ORPHA:75389
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Short neck, Micrognathia, Dental malocclusion,...	ORPHA:444072
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia...	OMIM:616901
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Oculopharyngodistal Myopathy 3	Weakness of facial musculature, Ptosis	OMIM:619473
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Extra concha fold, Micrognathia, Hypoplasia of ...	OMIM:209885
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Facial hypotonia, Upslanted palpebral fissure, Astigmatism, Downslanted palpebral fis...	OMIM:618659
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor...	ORPHA:293725
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Periorbital fullness, ...	OMIM:613792
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Ptosis	OMIM:252011
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Ptosis	ORPHA:2229
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Predominantly lower limb lymphedema	ORPHA:314404
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Fryns Syndrome	Tented upper lip vermilion, Short neck, Atrial septal defect, Broad ribs, Microretrognathia, Clef...	OMIM:229850
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ptosis	OMIM:605809
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Ptosis, Synophrys, Blepharophimosis, Thick eyebrow, Frontalis muscle weakness	OMIM:210745
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Hydrocephalus, Dil...	ORPHA:79282
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal...	OMIM:617425
Angioedema, Hereditary, 3	Facial edema, Angioedema, Intestinal edema, Pharyngeal edema	OMIM:610618
Perlman Syndrome	Epicanthus, Femoral hernia, Inguinal hernia, Ptosis	ORPHA:2849
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Sagittal cranios...	OMIM:615879
Walker-Warburg Syndrome	Posteriorly rotated ears, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Protruding ea...	ORPHA:899
Parkinsonism-Dystonia 2, Infantile-Onset	Hypomimic face, Ptosis	OMIM:618049
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contractu...	OMIM:619293
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Cardiomyopathy, Bradycardia, Arrhythmia, Ptosis	OMIM:609286
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Medulloblastoma	Back pain, Vertigo, Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalus, Bilatera...	ORPHA:616
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Pulmonic stenosis, Ptosis	ORPHA:2868
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Neonatal Adrenoleukodystrophy	Cataract, Ptosis	ORPHA:44
Arachnoid Cyst	Back pain, Encephalocele, Urinary incontinence, Subarachnoid hemorrhage, Vertigo, Hydrocephalus, ...	ORPHA:2356
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Narrow chest, Aplastic cl...	OMIM:119600
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage, Increased level of hippuric acid in urine, Hyperglycinuria	OMIM:606054
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Joint...	ORPHA:56
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum	OMIM:614526
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus,...	ORPHA:1666
Craniosynostosis 3	Ptosis	OMIM:615314
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi...	ORPHA:679
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Vascular dilata...	OMIM:277175
Deafness, X-Linked 7	Telecanthus, Thick eyebrow, Ptosis	OMIM:301018
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Sensorineural hearing impairment, Platyspondyly, Delayed eruption of permanent teeth,...	OMIM:619269
Hypotonia-Cystinuria Syndrome	Epicanthus, Ptosis	ORPHA:163690
Osteoglophonic Dysplasia	Delayed eruption of teeth, Osteopenia, Mandibular prognathia, Hypoplastic scapulae, Camptodactyly...	OMIM:166250
Congenital Analbuminemia	Lipodystrophy, Edema, Facial edema, Pedal edema, Low pulse pressure, Oligohydramnios	ORPHA:86816
Ectodermal Dysplasia And Immunodeficiency 1	Lymphedema	OMIM:300291
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Inguinal hernia, Congenital finger flexion contractures, Ptosis	ORPHA:1154
Cleft Palate-Large Ears-Small Head Syndrome	Ptosis	ORPHA:2013
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Lumbar hyperlordosis, Kyphoscoliosis, Abnormality of the denti...	OMIM:271510
Codas Syndrome	Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Hypoplasia of the odo...	OMIM:600373
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Anteriorly placed anus, Narrow chest, Conductive hearin...	ORPHA:95699
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Flared, irregular rib ends, Pear-sh...	OMIM:602111
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Dental crowding, Ventricular septal defect, Pectus excavatum, Patent ductus arterio...	OMIM:618268
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Abnormal lo...	OMIM:218350
Myasthenic Syndrome, Congenital, 5	Ptosis	OMIM:603034
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Posteriorly rotated ears, Intestinal malrotation, Ventricu...	OMIM:605039
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, Deep phil...	ORPHA:251014
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc...	OMIM:619909
Inclusion Body Myopathy And Brain White Matter Abnormalities	Weakness of facial musculature, Ptosis	OMIM:619733
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse eyelashes, Polyhydramnios, Blepharophimosis, Downslanted palpebral fissure...	OMIM:619075
Microcephalic Primordial Dwarfism, Montreal Type	Shagreen patch, Lipoatrophy, Ptosis	ORPHA:2617
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity...	ORPHA:93360
Lambotte Syndrome	Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ma...	OMIM:245552
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Micro...	ORPHA:2995
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:300882
Warsaw Breakage Syndrome	Ventricular septal defect, Hypoplasia of the cochlea, Cupped ear, Wide mouth, High palate, Tetral...	OMIM:613398
Foodborne Botulism	Ptosis, Arrhythmia, Xerostomia, Mydriasis	ORPHA:228371
Cornelia De Lange Syndrome 1	Short neck, Micrognathia, High, narrow palate, Downturned corners of mouth, Widely spaced teeth, ...	OMIM:122470
Hurler Syndrome	Aortic regurgitation, Inguinal hernia, Corneal opacity, Splenomegaly, Bilateral ptosis, Flexion c...	OMIM:607014
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh...	OMIM:309500
Baraitser-Winter Syndrome 2	Long palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis	OMIM:614583
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Craniosynostosis, Joint stiffness, Campto...	ORPHA:83
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Ptosis	OMIM:613561
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:457365
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction, Ptosis	OMIM:618098
Intellectual Disability-Developmental Delay-Contractures Syndrome	Congenital foot contractures, Ptosis	ORPHA:3454
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Abn...	ORPHA:249
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Epistaxis, Hepatosplenomegaly	OMIM:612840
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, High, narrow palate, Pectus carinatum, Narrow chest, Osteomalac...	ORPHA:198
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Congenital facial diplegia, Epicanthu...	ORPHA:91411
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil...	OMIM:261540
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Flexion contracture, Blepharophimosis, Pulmonary arterial hypertension, Downslanted palpebral fis...	ORPHA:391372
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia, Abnormal rib morphology	ORPHA:2643
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ...	OMIM:601005
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Underdeveloped supraorbital ridges, Shagreen patch, Ptosis	ORPHA:2511
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Abnorma...	ORPHA:474
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Vasculitis, Lymphadenopathy, Joint swelling, Panniculitis	OMIM:617099
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi...	OMIM:212112
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Polyhydramnios, Bilateral ptosis, Synophrys, Achilles t...	OMIM:620351
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Epicanthus, Facial hypotonia, Downslanted palpebral fissures, Ptosis	OMIM:616801
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Ventricular septal defect, Non-mi...	ORPHA:1770
Isovaleric Acidemia	Cerebellar hemorrhage, Hyperglycinuria	OMIM:243500
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy, Facial palsy, Ptosis	OMIM:615084
Congenital Disorder Of Glycosylation, Type 2V	Epicanthus, Narrow palpebral fissure, Periorbital fullness, Astigmatism, Downslanted palpebral fi...	OMIM:619493
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Astigmatism, Peters anomaly, Blepharophimosis, Iris coloboma, Broad eyebrow, Ptosis	ORPHA:494344
Coenzyme Q10 Deficiency, Primary, 4	Ptosis	OMIM:612016
Trichohepatoenteric Syndrome 1	Villous atrophy, Ventricular septal defect, Large placenta, Wide mouth, Microtia, Low-set ears, N...	OMIM:222470
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Camptodactyly of fing...	ORPHA:284160
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S...	OMIM:229400
Hengel-Maroofian-Schols Syndrome	Epicanthus, Foot joint contracture, Synophrys, Thick eyebrow, Ptosis	OMIM:619641
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Ptosis	ORPHA:254913
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Posteriorly rotated ears, Ventricular septal defe...	OMIM:619229
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:49827
Rubinstein-Taybi Syndrome	Telecanthus, Epicanthus, Highly arched eyebrow, Polyhydramnios, Nasolacrimal duct obstruction, At...	ORPHA:783
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Ptosis	OMIM:618198
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi...	ORPHA:261236
Oligodontia-Colorectal Cancer Syndrome	Absent eyebrow, Short eyelashes	OMIM:608615
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflamm...	OMIM:619708
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Right ventricul...	OMIM:614261
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W...	OMIM:618067
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Long eyelashes, Umbilical hernia, Thick eyebrow, P...	OMIM:614608
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Condu...	ORPHA:444077
Kawasaki Disease	Pericarditis, Edema, Congestive heart failure, Cervical lymphadenopathy, Vasculitis, Myocarditis,...	ORPHA:2331
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial palsy, Polyhydramnios, Edema, Increased connective tissue, Flexion contracture, Facial dip...	ORPHA:98905
Limb-Mammary Syndrome	Cleft palate, Hypodontia, Camptodactyly, Joint contracture of the hand, Bifid uvula	OMIM:603543
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Subdural hemorrhage, Long ear	OMIM:619714
Branchiooculofacial Syndrome	Micrognathia, Short neck, Renal cyst, Conductive hearing impairment, Hypoplastic superior helix, ...	OMIM:113620
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615433
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Joint contracture, Ptosis	OMIM:608423
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy, Facial palsy, Ptosis	ORPHA:254886
Rhyns Syndrome	Ptosis	ORPHA:140976
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Ventricular septal defect, Cleft soft palate, Abnormal pulmonary valve morphology,...	ORPHA:268261
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis, Aortic valve stenosis, Ptosis	ORPHA:228410
Hartsfield Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Polyhydramnios, Achilles tendon contracture, Flexion contracture, ...	OMIM:301041
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Cervical cord compression, ...	ORPHA:508533
Nephronophthisis 11	Anisocoria	OMIM:613550
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Hydrocephalus, Orofacial cleft, Bell-shaped tho...	OMIM:615630
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Ptosis	OMIM:601462
Meckel Syndrome 12	Arthrogryposis multiplex congenita, Bifid uvula, Low-set ears, Micrognathia	OMIM:616258
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung age...	OMIM:611812
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Miscar...	OMIM:245150
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost...	OMIM:604757
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Hypoplastic scapulae, Ant...	OMIM:309350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Pectus excavatum, Atelec...	OMIM:618278
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, 4...	OMIM:268305
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Vertigo...	ORPHA:99827
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failure, Lymphadenopathy, H...	OMIM:615895
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Vertigo, Chronic kidney disease, Subdural hemorrh...	ORPHA:25
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Blepharophimosis, Sparse ...	OMIM:613026
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Microretrognathia, Ventricular se...	ORPHA:459070
Neu-Laxova Syndrome 1	Short neck, Swollen lip, Micrognathia, Neonatal death, Patent foramen ovale, Spina bifida, Cleft ...	OMIM:256520
Coffin-Siris Syndrome 5	Long eyelashes, Thick eyebrow, Ptosis	OMIM:616938
Filippi Syndrome	Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat...	OMIM:272440
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tubulointerstitial nephriti...	ORPHA:90068
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:261537
Inhalational Botulism	Ptosis, Xerostomia, Mydriasis	ORPHA:254504
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Conductive he...	OMIM:280000
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:2152
Oculopharyngodistal Myopathy 4	Weakness of facial musculature, Ptosis	OMIM:619790
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, ...	OMIM:259770
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:1836
Smith-Lemli-Opitz Syndrome	Short neck, Micrognathia, Abnormal lung lobation, Abnormal form of the vertebral bodies, Holopros...	ORPHA:818
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Sensorineural hearing impairment, Coarctation o...	OMIM:618748
Good Syndrome	Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Thymoma, Ptosis	ORPHA:169105
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Brushfield spots, Eyelid coloboma, Downslanted palpebral fissures, Aplas...	ORPHA:1784
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary insufficiency, Abnormal cartilage matrix	OMIM:245650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Ventricular septal defect, Stippled chondral calcification, Micrognathia, Wide ...	OMIM:614866
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Malabsorption, Nephrocalcinosis, Tympanosclerosis, Enamel hypoplasia	OMIM:240300
Monosomy 9P	Short neck, Abnormality of the dentition, Narrow mouth, Micrognathia, Limitation of joint mobilit...	ORPHA:261112
Hypophosphatasia	Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology, Nar...	ORPHA:436
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Ventricular septal defect, Short neck, Micrognathia, Scoliosis, Narrow vertebra...	OMIM:620073
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Submucous cleft hard palate, Dow...	OMIM:619680
Familial Thyroid Dyshormonogenesis	Facial edema, Umbilical hernia, Bradycardia	ORPHA:95716
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Hematuria, Short phil...	OMIM:185070
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia, Aqueductal stenosis, Abnorma...	ORPHA:3035
Myoclonus, Intractable, Neonatal	Ptosis	OMIM:617235
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Increased intervertebral space, Thick lower lip vermilion, Platyspondy...	OMIM:619727
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Multiple Osteochondromas	Neuropathic spinal arthropathy, Intestinal obstruction, Pseudoaneurysm, Tethered cord, Spinal cor...	ORPHA:321
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Protruding ear, High palate, Long philtrum, Open mouth, ...	OMIM:618798
Radio-Renal Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormal rib morphology, Abnormal form of the vert...	ORPHA:3015
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Microcornea, Upslanted palpebral fissure, Atypical scarr...	ORPHA:1297
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ptosis	OMIM:125250
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Long palpebral fissure, Aortic valve stenosis, Iris coloboma, ...	OMIM:243310
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis	OMIM:615009
Spinocerebellar Ataxia, Autosomal Recessive 31	Ptosis	OMIM:619422
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Mixed hearing impairment, Block vertebrae, Short neck, Hyperl...	OMIM:272460
Chand Syndrome	Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes...	ORPHA:1401
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tu...	OMIM:251000
Myopathy With Extrapyramidal Signs	Splenomegaly, Epicanthus, Ptosis	OMIM:615673
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha...	OMIM:232300
Frias Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:609640
Superficial Siderosis	Abnormal bleeding, Back pain, Subarachnoid hemorrhage, Vertigo, Functional abnormality of the bla...	ORPHA:247245
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Arrhythmia, Dilated cardiomyopathy, Ptosis	ORPHA:352447
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Synophrys, Heterochromia iridis, Thick eyebrow, Ptosis	ORPHA:894
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Hypotrichosis 14	Short eyelashes	OMIM:618275
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ptosis	OMIM:618225
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Bilateral ptosis, Ptosis	OMIM:616479
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Intellectual Developmental Disorder, Autosomal Recessive 65	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 4th finger, Astigmatism...	OMIM:618109
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Flexion contracture, Long eyelashes, Ptosis	OMIM:619076
Non-Distal Deletion 10Q	Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys	ORPHA:1581
Congenital Myasthenic Syndromes With Glycosylation Defect	Knee flexion contracture, Flexion contracture, Facial palsy, Ptosis	ORPHA:353327
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Ptosis	OMIM:619465
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Atrial sep...	OMIM:613610
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Synophrys, Ptosis	OMIM:616083
Mesomelia-Synostoses Syndrome	Microretrognathia, Micrognathia, Carpometacarpal synostosis, Tarsometatarsal synostosis, Short um...	OMIM:600383
Nizon-Isidor Syndrome	Unilateral ptosis, Sparse eyebrow, Upper eyelid edema, Downslanted palpebral fissures, Iris coloboma	OMIM:618872
Holt-Oram Syndrome	Thoracic scoliosis, Ventricular septal defect, Secundum atrial septal defect, Pectus excavatum, P...	OMIM:142900
Woods Syndrome	Ventricular septal defect	OMIM:615236
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:261552
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, S...	ORPHA:488632
Dermoodontodysplasia	Ptosis, Abnormal eyelid morphology	ORPHA:1660
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart fail...	OMIM:261740
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Methylmalonic aciduria, Sto...	ORPHA:79284
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Prominent supraorbital ridges...	OMIM:620098
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column...	OMIM:619475
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Ptosis	OMIM:619972
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil...	ORPHA:99901
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v...	ORPHA:3003
Spinocerebellar Ataxia, Autosomal Recessive 8	Ptosis	OMIM:610743
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Short neck, Fused cervical vertebrae, Conductive...	OMIM:609053
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Hypomimic face, Ptosis	ORPHA:70594
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Camptodactyly of...	ORPHA:3380
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Posteriorly rotated ears, Ventricular se...	OMIM:615948
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,...	OMIM:610536
Juberg-Hayward Syndrome	Highly arched eyebrow, Ptosis	OMIM:216100
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Recurrent pneumonia, Suba...	ORPHA:99646
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Spinocerebellar Ataxia, Autosomal Recessive 13	Ptosis	OMIM:614831
Semilobar Holoprosencephaly	Median cleft lip, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Cleft pal...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Cleft pal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Cleft pal...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Cleft pal...	ORPHA:93924
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Posteriorly rotated ears, Short neck, Myocarditis, Cupped ribs, Horizontal infe...	OMIM:250220
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Short neck, High, narrow palate, Vertebral segmentation defect, Atrial sep...	ORPHA:373
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp...	ORPHA:3201
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Weakness of facial musculature, Facial palsy, Ptosis	OMIM:616323
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Ptosis	OMIM:616549
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Telecanthus, Highly arched eyebrow, Corneal erosion, Synophrys, Megalocorne...	OMIM:609460
Joubert Syndrome 35	Telecanthus, Synophrys, Highly arched eyebrow, Ptosis	OMIM:618161
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Esophageal ...	OMIM:614576
Warburg Micro Syndrome 4	Microcornea, Ptosis, Flexion contracture, Developmental cataract	OMIM:615663
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Ventricular septal defect, Pat...	ORPHA:1465
Ring Chromosome 7 Syndrome	Mandibular prognathia, Prominent crus of helix, Situs inversus totalis, Cleft palate, Thin vermil...	ORPHA:1449
Myasthenic Syndrome, Congenital, 22	Ptosis	OMIM:616224
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Epicanthus, Telecanthus, Inguinal hernia, Facial palsy, Polyhydramnios, Cam...	ORPHA:261349
Pachydermoperiostosis	Gastrointestinal hemorrhage, Edema, Splenomegaly, Joint swelling, Ptosis	ORPHA:2796
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Dental malocclusion, Mitral valve prolapse, Taurodontia, L...	OMIM:616202
Spinocerebellar Ataxia With Epilepsy	Ptosis	ORPHA:254881
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Posteriorly rotated ears, Kyphoscoliosis, Missing ribs, Micrognathia, Hemiv...	OMIM:200980
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Splenomegaly, Lymph node hypoplasia	OMIM:613179
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi...	ORPHA:261
Oculocerebrocutaneous Syndrome	Missing ribs, External ear malformation, Hydrocephalus, Abnormal rib morphology, Orofacial cleft,...	ORPHA:1647
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi...	ORPHA:98853
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Auriculocondylar Syndrome 2A	Ptosis	OMIM:614669
Spinocerebellar Ataxia 28	Ptosis	OMIM:610246
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Blepharophimosis, Downslanted palpebral fissures, Camptodactyly, Ptosis	OMIM:617333
Chikungunya	Epistaxis, Raynaud phenomenon, Facial edema, Cervical lymphadenopathy, Pedal edema, Lymphadenopat...	ORPHA:324625
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Astigmatism, Ptosis	ORPHA:2824
Distal Deletion 19P	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin...	ORPHA:96129
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Telecanthus, Umbilical hernia, Downslanted palpebral fissures, Ptosis	ORPHA:1778
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Ptosis	OMIM:221320
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Ptosis	ORPHA:401768
Autosomal Dominant Optic Atrophy, Classic Form	Weakness of facial musculature, Cataract, Ptosis	ORPHA:98673
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Predominantly lower limb lymphedema	OMIM:604121
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Hyperpigmentation of the skin	OMIM:231550
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation defect, A...	OMIM:312870
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroi...	ORPHA:89936
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Typical Nemaline Myopathy	Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Arthrogryposis multiplex cong...	ORPHA:171436
Prolidase Deficiency	Splenomegaly, Diffuse telangiectasia, Ptosis	OMIM:170100
Wound Botulism	Ptosis, Cardiac arrest, Mydriasis	ORPHA:178475
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Posteriorly rotated ears, Abnormal pinna morphology, Ventricular septal def...	OMIM:616975
Coffin-Siris Syndrome 2	Inguinal hernia, Long eyelashes, Thick eyebrow, Ptosis	OMIM:614607
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Short neck, Pectus excavatum, Pylori...	OMIM:147791
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Iris coloboma, Ptosis	ORPHA:66629
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne...	OMIM:278730
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Hematochezia, Subconjunctival hemorrhage, ...	OMIM:617718
Jackson-Weiss Syndrome	Underdeveloped supraorbital ridges, Ptosis	ORPHA:1540
Trisomy 17P	Cataract, Flexion contracture, Aortic valve stenosis, Downslanted palpebral fissures, Broad eyebr...	ORPHA:261290
Schneckenbecken Dysplasia	Polyhydramnios, Lymphedema	ORPHA:3144
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Ptosis	OMIM:615278
Revesz Syndrome	Megalocornea, Fine, reticulate skin pigmentation, Leukocoria	OMIM:268130
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi...	ORPHA:98863
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Myasthenia, Limb-Girdle, Autoimmune	Thymoma, Ptosis	OMIM:159400
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Secundum atrial septal defect, Downturned corners of mout...	OMIM:616268
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, Vasculitis, Cerebral ...	ORPHA:397
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ...	ORPHA:289
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Keipert Syndrome	Epicanthus, Ptosis	ORPHA:2662
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration, Ptosis	OMIM:560000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Conductive hearing impairment, Clef...	ORPHA:306542
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis	OMIM:615156
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Abnormal pulmonary valve morphology,...	ORPHA:667
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory t...	ORPHA:3078
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Joint stiffness, Micrognathia, Non-midline cleft lip, Fibrous ...	ORPHA:1300
Chime Syndrome	Abnormal dental morphology, Ventricular septal defect, Aplastic clavicle, Abnormality of the dent...	ORPHA:3474
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, At...	OMIM:301044
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Camptodactyly, Downslanted palpebral fissures, Short palpebra...	OMIM:614230
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Posteriorly rotated ears, Ventricular septal defect, Short neck, Abn...	OMIM:607721
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Facial palsy, Bilateral ptosis, Cardiomyopathy, Mitral regurgitation, Weakness of facial musculat...	OMIM:258450
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Elbow flexion contracture, Oligohydram...	OMIM:613776
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ptosis	OMIM:312170
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Hypomimic face, Ptosis	OMIM:617854
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Abnormal rib morphology...	ORPHA:2519
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly, Death in childhood	OMIM:618641
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Myasthenia Gravis	Raynaud phenomenon, Abnormal thymus morphology, Ptosis	ORPHA:589
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec...	ORPHA:33364
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b...	ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Flexion contracture, Ptosis	OMIM:218000
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Mitochondrial Complex I Deficiency, Nuclear Type 5	Ptosis	OMIM:618226
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Pmm2-Cdg	Epicanthus, Cataract, Angina pectoris, Pericarditis, Multiple joint contractures, Lymphedema, Per...	ORPHA:79318
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Abnormal heart morphology, Wide mouth, Microtia, A...	OMIM:154500
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Congenital malformation of the left heart, Abnormality of the ear, Hypoplastic verteb...	ORPHA:3455
Leukodystrophy, Hypomyelinating, 20	Ptosis	OMIM:619071
Pseudo-Torch Syndrome 3	Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage	OMIM:618886
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Uplifted earlobe, Ventr...	OMIM:235730
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Micrognathia, ...	ORPHA:452
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Splenomegaly, Congestive heart failure, Flexion contracture, Hepatosplenomegaly,...	OMIM:309900
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis	ORPHA:663
Alzahrani-Kuwahara Syndrome	Posteriorly rotated ears, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal ...	OMIM:619268
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Developmental And Epileptic Encephalopathy 84	Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Micrognathia, Protruding ear, High palate, Atrial septal defect, Abnormal dental pulp morphology,...	ORPHA:363700
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Autosomal Recessive Dopa-Responsive Dystonia	Ptosis	ORPHA:101150
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Microcornea, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:110100
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Ptosis	OMIM:618155
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Facial palsy, Cardiogenic shock, Dilated cardiomyo...	OMIM:619424
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Protruding ear, Pulmon...	OMIM:616777
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber	ORPHA:280921
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Wolfram Syndrome 1	Cardiomyopathy, Cataract, Ptosis	OMIM:222300
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Hypotonia-Cystinuria Syndrome	Long eyelashes, Facial palsy, Ptosis	OMIM:606407
Thrombocytopenia, Paris-Trousseau Type	Ptosis	OMIM:188025
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Prot...	OMIM:619534
Tooth Agenesis, Selective, 4	Sparse eyebrow, Short eyelashes	OMIM:150400
Houge-Janssens Syndrome 1	Facial hypotonia, Downslanted palpebral fissures, Ptosis	OMIM:616355
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Pleural effusion	OMIM:306400
Intermediate Uveitis	Cataract, Macular scar, Band keratopathy, Vasculitis, Macular edema, Posterior synechiae of the a...	ORPHA:279914
Wieacker-Wolff Syndrome	Facial palsy, Congenital foot contractures, Upslanted palpebral fissure, Camptodactyly, Arthrogry...	OMIM:314580
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Hellp Syndrome	Back pain, Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotens...	ORPHA:244242
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Cataract, Facial palsy, Lagophthalmos, Weakness of facial musculature, Flexion contra...	OMIM:254940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Inguinal hernia, Polyhydramnios, Astigmatism, Hooded upper eyelid, Ptosis	OMIM:618548
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Ptosis	OMIM:618731
4Q21 Microdeletion Syndrome	Synophrys, Long eyelashes, Ptosis	ORPHA:238750
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria, Scoliosis, Neonatal death	OMIM:619055
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Posteriorly rotated ears, Ventricu...	OMIM:620330
Postsynaptic Congenital Myasthenic Syndromes	Abnormality of masticatory muscle, Facial palsy, Ptosis	ORPHA:98913
Neuroocular Syndrome	Hyperextensibility of the finger joints, Sacral dimple, Scapular winging, Pectus excavatum, Unila...	OMIM:619539
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis	ORPHA:2064
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Portal hypertension, Hypersplenism, Splenomegaly, Camptodactyly, Ptosis	OMIM:613385
Frontorhiny	Pericallosal lipoma, Epicanthus, Cataract, Camptodactyly of finger, Iris coloboma, Ptosis	ORPHA:391474
Arthrogryposis, Distal, Type 1A	Hip contracture, Elbow flexion contracture, Knee flexion contracture, Camptodactyly, Arthrogrypos...	OMIM:108120
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Carious teeth, Thin verm...	ORPHA:96097
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Joint hypermobility, High, narrow pa...	OMIM:619575
Toxin-Mediated Infectious Botulism	Ptosis, Mydriasis	ORPHA:230800
Hartsfield Syndrome	Median cleft lip, Hypospadias, Posteriorly rotated ears, Cleft upper lip, Alobar holoprosencephal...	OMIM:615465
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Micrognathia...	OMIM:220111
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Thick lower lip vermilion, Advanced ossification of carpal bones, Low p...	OMIM:610442
Coach Syndrome 1	Splenomegaly, Hypertension, Portal hypertension, Ptosis	OMIM:216360
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Upslanted palpebral fissure, Hypertension, Periorbital fullness, Umbilical hernia, Ptosis	OMIM:619758
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Myopic astigmatism, Mitral regurg...	ORPHA:230851
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b...	OMIM:613805
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent foramen oval...	ORPHA:163956
Reni Syndrome	Edema, Ptosis	OMIM:617575
Joubert Syndrome With Hepatic Defect	Inguinal hernia, Portal hypertension, Highly arched eyebrow, Splenomegaly, Iris coloboma, Ptosis	ORPHA:1454
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Enuresis nocturna, Telangiectasia, Recu...	ORPHA:420741
Myopathy, Myofibrillar, 8	Mitral regurgitation, Joint contracture of the 5th finger, Achilles tendon contracture, Ptosis	OMIM:617258
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Spinocerebellar Ataxia 50	Ptosis	OMIM:620158
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Primum atrial septal defect, Downturned corners ...	ORPHA:2729
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Pectus excavatum, Thick...	ORPHA:2785
Rothmund-Thomson Syndrome Type 1	Abnormal dental enamel morphology, Facial edema, Telangiectasia, Developmental cataract, Sparse o...	ORPHA:221008
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Craniosynostosis, Micrognathia, Low-set ears, Abnormal vena cava morph...	ORPHA:166035
Nephrotic Syndrome, Type 11	Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa...	OMIM:616730
Joubert Syndrome 3	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:608629
Muenke Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:602849
Coach Syndrome 3	Ptosis	OMIM:619113
Aymé-Gripp Syndrome	Pericarditis, Cataract, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, B...	ORPHA:1272
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Micrognathia, Ventricular septal defect, Protruding ear	ORPHA:2256
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Arthrogryposis multiplex congenita, Ptosis	OMIM:243180
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Hearing impairment, Micrognathia, Low-set ears, Atri...	OMIM:208085
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Palpebral edema, Splenomegaly, Cervical lymphadenopathy, Vasculitis,...	ORPHA:50918
Meningioma	Back pain, Urinary incontinence, Cerebral hemorrhage, Ear pain, Hydrocephalus, Syncope, Tinnitus,...	ORPHA:2495
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Multiple joint contractures, Ptosis	ORPHA:363429
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Autosomal Dominant Centronuclear Myopathy	Polyhydramnios, Ptosis	ORPHA:169189
Knobloch Syndrome	Lymphangioma, Epicanthus, Cataract, Ectopia lentis	ORPHA:1571
Spinocerebellar Ataxia 47	Ptosis	OMIM:617931
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Esophageal atres...	OMIM:192350
Joubert Syndrome 30	Ptosis	OMIM:617622
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Conjunctivitis	OMIM:300755
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Accessory oral f...	ORPHA:434179
Ohdo Syndrome	Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis	OMIM:249620
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Pectus excavatum, Kyphosis, Patent ductus a...	ORPHA:464311
Chromosome 2P16.1-P15 Deletion Syndrome	Telecanthus, Epicanthus, Camptodactyly, Blepharophimosis, Joint contracture of the hand, Downslan...	OMIM:612513
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Yunis-Varon Syndrome	Redundant neck skin, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Micrognathia, High, narrow...	ORPHA:3472
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Situs inversus total...	ORPHA:991
Vici Syndrome	Epicanthus, Cataract, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Developm...	OMIM:242840
Visual Impairment And Progressive Phthisis Bulbi	Flat cornea, Ptosis	OMIM:618283
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Inguinal hernia, Bilateral ptosis, Atypical scarring of skin, Atrophic scars, Thi...	OMIM:618000
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Card...	OMIM:181270
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Ventricular septal defect, Cardiomegaly, Micrognathia, Patent ductus arteriosus, Ab...	ORPHA:96191
Rothmund-Thomson Syndrome	Sparse eyelashes, Telangiectasia of the skin, Abnormal dental enamel morphology, Sparse eyebrow, ...	ORPHA:2909
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Dental crowding, Kyphoscoliosis, Recurrent pneumonia, Osteoporosis, Thi...	OMIM:225400
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Developmental glaucoma, Buphthalmos, Weakness of facial musculature, Ptosis	ORPHA:99956
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Thymoma, Keratoconjunctivitis	OMIM:269200
Gaucher Disease, Type Ii	Death in infancy, Trismus, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch	OMIM:230900
Dpagt1-Cdg	Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage, Scoliosis, Hearing impairment	ORPHA:86309
Birk-Landau-Perez Syndrome	Facial hypotonia, Upslanted palpebral fissure, Hypertension, Long eyelashes, Ptosis	OMIM:617595
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Ptosis	OMIM:617664
Autosomal Dominant Progressive External Ophthalmoplegia	Cataract, Atrial fibrillation, Facial palsy, Edema, Dilated cardiomyopathy, Facial diplegia, Hypo...	ORPHA:254892
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Myocardial infarction,...	ORPHA:117
X-Linked Mandibulofacial Dysostosis	Epicanthus, Pulmonic stenosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1131
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus...	ORPHA:464306
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Macroglossia, High palate, Low...	OMIM:613457
Sillence Syndrome	Back pain, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Intervertebral...	ORPHA:3168
Pyruvate Dehydrogenase E2 Deficiency	Ptosis	OMIM:245348
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Cardiomyopathy, Facial diplegia, Ptosis	ORPHA:521411
Omodysplasia 1	Ventricular septal defect, Short neck, Limited knee flexion, Micrognathia, Pulmonary artery steno...	OMIM:258315
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11-deoxy...	ORPHA:90795
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Microph...	ORPHA:85167
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract	ORPHA:45358
Enhanced S-Cone Syndrome	Cataract, Edema, Macular edema	OMIM:268100
Developmental And Epileptic Encephalopathy 110	Ptosis	OMIM:620149
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, M...	ORPHA:3260
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Short neck, Micrognathia, Pneumothorax, Ovoid thoracolumbar vertebrae,...	ORPHA:3404
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Telangiectasia of the skin, Infra-orbital crease, Flexion contracture, Keratoconjunctiv...	OMIM:616007
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Ptosis	OMIM:105210
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Ptosis	OMIM:613559
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Facial hypotonia, Prominent supraorbital ridges, Ptosis	ORPHA:364028
Koolen-De Vries Syndrome	Epicanthus, Cataract, Abnormal dental enamel morphology, Upslanted palpebral fissure, Blepharophi...	ORPHA:96169
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Portal hypertension, Hypersplenism, Hepatosplenomegaly, Camptodactyly, Ptosis	ORPHA:228426
Frontotemporal Dementia With Motor Neuron Disease	Ptosis	ORPHA:275872
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm, Submucous cleft hard palate, Flexion contracture	OMIM:618891
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Cleft...	OMIM:619895
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Orof...	ORPHA:1519
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Calcification of cartilage	ORPHA:1416
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis	ORPHA:73246
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Wide mouth, Thin vermilion border, S...	ORPHA:217346
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Upslanted palpebral fissure, Epicanthus, Facial hypotonia, Ptosis	OMIM:300260
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy, Cataract, Ptosis	ORPHA:70595
Spastic Ataxia 5, Autosomal Recessive	Ptosis	OMIM:614487
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration, Ptosis	OMIM:615453
Holoprosencephaly 2	Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft hard palate, Absent nasal se...	OMIM:157170
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis	ORPHA:2988
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala...	ORPHA:69085
Short Stature-Micrognathia Syndrome	Joint laxity, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Retrognathia	OMIM:617164
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Arthrogryposis multiplex congenita, Polyhydramnios	ORPHA:86822
Degcags Syndrome	Osteopenia, Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Hiatus hernia,...	OMIM:619488
Fetal Hydantoin Syndrome	Epicanthus, Hernia, Ptosis	ORPHA:1912
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Facial palsy, Ptosis	OMIM:617143
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	OMIM:210700
Hand-Foot-Genital Syndrome	Sacral dimple, Ventricular septal defect, Miscarriage, Microtia, Synostosis of carpal bones	ORPHA:2438
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis	OMIM:618170
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis	ORPHA:93262
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Rothmund-Thomson Syndrome Type 2	Abnormal dental enamel morphology, Facial edema, Developmental cataract, Sparse or absent eyelash...	ORPHA:221016
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Nail-Patella Syndrome	Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Fetal Alcohol Syndrome	Epicanthus, Congenital diaphragmatic hernia, Telecanthus, Ptosis	ORPHA:1915
Congenital Myopathy 17	Telecanthus, Polyhydramnios, Distal arthrogryposis, Underdeveloped supraorbital ridges, Downslant...	OMIM:618975
Sotos Syndrome	No permanent dentition, Flexion contracture, Atrial septal defect, Conductive hearing impairment,...	ORPHA:821
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Senso...	OMIM:602782
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Mi...	OMIM:194050
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Scarf Syndrome	Ptosis, Epicanthus, Inguinal hernia, Umbilical hernia, Enamel hypoplasia, Downslanted palpebral f...	ORPHA:3134
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ptosis	ORPHA:313772
Congenital Disorder Of Glycosylation, Type Iiw	Ventricular septal defect, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pec...	OMIM:619525
Dworschak-Punetha Neurodevelopmental Syndrome	Ptosis, Sparse lateral eyebrow	OMIM:619955
Non-Specific Early-Onset Epileptic Encephalopathy	Downslanted palpebral fissures, Ptosis	ORPHA:442835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Left bundle branch block, Arrhythmia, Ventricular bigeminy, Ptosis	OMIM:610131
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Narrow palpebral fissure, Hypotension, Long palpebral fissure,...	ORPHA:439822
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:617190
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,...	OMIM:309801
Lowry-Wood Syndrome	Platyspondyly, Joint stiffness	ORPHA:1824
Retinoblastoma	Leukocoria	OMIM:180200
Leigh Syndrome	Ptosis	OMIM:256000
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Myopic astigmatism, Synophrys, Hepatosplenomegaly, Umbilical hernia, Downslanted palp...	OMIM:301066
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Dehydration, Syncope, Orthostatic syncope	ORPHA:230
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Micrognathia, Sensorineural hearing impairment, Submucous cleft har...	OMIM:618971
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Flexion contracture, Ptosis	ORPHA:137898
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Ptosis	OMIM:618451
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Long eyelashes, Underdeveloped supraorbital ridges, Short palpebral fissur...	OMIM:615866
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Kyphoscoliosi...	ORPHA:466791
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Pearson Syndrome	Cataract, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Corneal str...	ORPHA:699
Ruvalcaba Syndrome	Inguinal hernia, Downslanted palpebral fissures, Ptosis	ORPHA:3121
Gabriele-De Vries Syndrome	Telecanthus, Facial hypotonia, Sparse eyebrow, Epiblepharon, Periorbital fullness, Distal arthrog...	OMIM:617557
Joubert Syndrome 7	Ptosis	OMIM:611560
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Death in infancy, Jejunal atresia, Inte...	OMIM:243150
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis	OMIM:608624
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Cl...	ORPHA:2473
Combined Oxidative Phosphorylation Deficiency 24	Weakness of facial musculature, Ptosis	OMIM:616239
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Cardiac arrest, Polyhydramnios, Flexion contracture, Elbow flexion contracture, ...	OMIM:618947
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Inguinal hernia, Highly arched eyebrow, Polyhydramnios, Synophrys, Umbilical hernia, ...	OMIM:617062
Moebius Syndrome	Epicanthus, Corneal opacity, Facial palsy, Arthrogryposis multiplex congenita, Blepharitis, Ptosis	ORPHA:570
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Synophrys, Heterochromia iridis, Ptosis	ORPHA:3440
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis	OMIM:184253
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage, Conical tooth	OMIM:301081
Lathosterolosis	Epicanthus, Cataract, Hepatosplenomegaly, Opacification of the corneal stroma, Downslanted palpeb...	OMIM:607330
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypomimic face, Ptosis	ORPHA:352649
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ptosis	ORPHA:1933
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the extraocular muscles, Ptosis	ORPHA:298
Orthostatic Hypotension 1	Weakness of facial musculature, Orthostatic hypotension, Atrial fibrillation, Ptosis	OMIM:223360
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Prominent supraorbital ridges, Ptosis	OMIM:616592
Saethre-Chotzen Syndrome	Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, M...	OMIM:101400
Neutral Lipid Storage Disease With Ichthyosis	Ectropion, Cardiomyopathy, Subcapsular cataract, Ptosis	ORPHA:98907
Blau Syndrome	Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Keratitis, Splenomegaly, Xerostomi...	ORPHA:90340
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Dental crowding, Ventricular septal defect, Abnormal...	ORPHA:769
Sarcoidosis	Abnormal cardiac ventricular function, Cataract, Facial palsy, Portal hypertension, Scarring, Hea...	ORPHA:797
Carey-Fineman-Ziter Syndrome	Epicanthus, Facial palsy, Downslanted palpebral fissures, Hypertensive crisis, Ptosis	ORPHA:1358
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Facial diplegia, Ptosis	OMIM:612073
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Pilonidal sinus, Abnormal pinna morphology, Short neck, Broad clavicles, Con...	OMIM:276820
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Lagophthalmos, Elbow flexion contracture, Camptodactyly, Ptosis	OMIM:615065
Ververi-Brady Syndrome	Upslanted palpebral fissure, Ptosis	OMIM:617982
Adult-Onset Still Disease	Cartilage destruction, Myocarditis, Pericarditis	ORPHA:829
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Epicanthus, Periorbital fullness, Astigmatism, Downslanted palpeb...	ORPHA:369950
Yunis-Varon Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Shor...	OMIM:216340
Joubert Syndrome 37	Ptosis	OMIM:619185
Joubert Syndrome With Oculorenal Defect	Iris coloboma, Highly arched eyebrow, Ptosis	ORPHA:2318
Scalp-Ear-Nipple Syndrome	Telecanthus, Cataract, Palpebral edema, Hypertension, Eyelid coloboma	ORPHA:2036
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Ptosis	OMIM:239710
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal lymph node morphology, Lymphadeno...	ORPHA:85450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital bilateral ptosis, Ptosis	ORPHA:73272
Dend Syndrome	Bilateral ptosis, Dehydration	ORPHA:79134
Orofaciodigital Syndrome Xvi	Inguinal hernia, Short palpebral fissure, Ptosis	OMIM:617563
Joubert Syndrome With Renal Defect	Iris coloboma, Highly arched eyebrow, Ptosis	ORPHA:220497
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hiatus hernia, Pa...	OMIM:616682
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hydrocephalus	ORPHA:91350
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Re...	ORPHA:209905
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Hypertension, Joint swelling, ...	OMIM:186580
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Knee flexion contracture, High palate, Atrial septal defect, Wrist flex...	OMIM:268300
Trichothiodystrophy 4, Nonphotosensitive	Macrotia, Ventricular septal defect, Retrognathia, Hypoplasia of teeth	OMIM:234050
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Abnormality o...	ORPHA:91500
Dystonia 34, Myoclonic	Ptosis	OMIM:619724
Joubert Syndrome	Iris coloboma, Highly arched eyebrow, Ptosis	ORPHA:475
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hearing impairment, Wide mouth, Interrupted ...	OMIM:618846
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Ptosis	OMIM:615911
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Myocarditis, Abnormal rib morphology, Platyspondyly, Narrow chest	ORPHA:93317
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block, Ptosis	OMIM:530000
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Flexion contracture, Elbow flexion contracture, Long eyelashes, Arthrogryposis m...	OMIM:617301
Retinoblastoma	Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis	ORPHA:790
Mitochondrial Complex I Deficiency, Nuclear Type 1	Splenomegaly, Concentric hypertrophic cardiomyopathy, Upslanted palpebral fissure, Hypertrophic c...	OMIM:252010
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Heart murmur, Ptosis	ORPHA:2728
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Infantile sens...	ORPHA:2177
Glycogen Storage Disease Xii	Splenomegaly, Epicanthus, Ptosis	OMIM:611881
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis	ORPHA:314655
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ptosis	OMIM:615838
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology, Ptosis	ORPHA:257
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Ptosis	OMIM:606220
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Craniosynostosis, Micrognathia, Thick vermilion border, Low-set ears, ...	OMIM:250410
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture...	OMIM:619306
Presynaptic Congenital Myasthenic Syndromes	Frontalis muscle weakness, Arthrogryposis multiplex congenita, Polyhydramnios, Ptosis	ORPHA:98914
Congenital Myasthenic Syndrome	Frontalis muscle weakness, Arthrogryposis multiplex congenita, Polyhydramnios, Ptosis	ORPHA:590
Cornelia De Lange Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High palate, Atrial s...	ORPHA:199
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Facial palsy, Ptosis	OMIM:157640
Holoprosencephaly 3	Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Bifid uvula	OMIM:142945
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Ptosis	ORPHA:531151
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Recurrent pneumonia, Plat...	OMIM:102700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom...	ORPHA:26793
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Kyphosis, Thick lower lip vermilion, Wide mouth, ...	OMIM:208400
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus, Increased urinary corti...	ORPHA:199244
Acute Transverse Myelitis	Back pain, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Paralytic ileu...	ORPHA:139417
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Periorbital fullness, Astigmatism, Joint contracture of the 5th finger, Ptosis	OMIM:619934
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter...	OMIM:100300
Townes-Brocks Syndrome	Rectoperineal fistula, Abnormal pulmonary valve morphology, External ear malformation, Patent duc...	ORPHA:857
Joubert Syndrome With Ocular Defect	Iris coloboma, Highly arched eyebrow, Ptosis	ORPHA:220493
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:618775
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Neurofaciodigitorenal Syndrome	Epicanthus, Downslanted palpebral fissures, Corneal dystrophy, Ptosis	ORPHA:2673
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Wide mouth, Microtia, Joint hypermobility, Duo...	OMIM:617798
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Ptosis	ORPHA:1323
Chromosome 18P Deletion Syndrome	Hypomimic face, Epicanthus, Ptosis	OMIM:146390
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Raynaud phenomenon, Developmental glaucoma, Hepatosplen...	ORPHA:51
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Tethered cord, Posteriorly rotated ears, Ventricular septal defect, Carious teeth, Patent ductus ...	OMIM:619522
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Congenital Myopathy 13	Telecanthus, Flexion contracture, Blepharophimosis, Weakness of facial musculature, Downslanted p...	OMIM:255995
Scarf Syndrome	Epicanthus, Inguinal hernia, Umbilical hernia, Enamel hypoplasia, Downslanted palpebral fissures,...	OMIM:312830
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615829
Filippi Syndrome	Ventricular septal defect, Thin vermilion border, Short philtrum, Limitation of joint mobility	ORPHA:3255
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Ventricular septal defect, Micrognathia, Complete at...	OMIM:236680
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Muenke Syndrome	Ptosis	ORPHA:53271
Angelman Syndrome	Keratoconus, Ptosis, Astigmatism, Iris hypopigmentation	ORPHA:72
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Ectopia lentis	ORPHA:284979
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Telecanthus, Facial capillary hemangioma, Long eyelashes, Blepharophimosis, Ptosis	OMIM:604314
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Anteverted ears, Deep philtrum...	OMIM:613884
Combined Oxidative Phosphorylation Defect Type 7	Facial diplegia, Ptosis	ORPHA:254930
Synaptic Congenital Myasthenic Syndromes	Bilateral ptosis, Facial palsy, Pulmonary arterial hypertension, Ptosis	ORPHA:98915
Aarskog-Scott Syndrome	Inguinal hernia, Downslanted palpebral fissures, Ptosis	OMIM:305400
Myasthenic Syndrome, Congenital, 19	Facial palsy, Ptosis	OMIM:616720
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Limited hip extension, Flexion contracture, High palate, Low-set ears,...	OMIM:614653
Ohdo Syndrome, X-Linked	Epicanthus, Inguinal hernia, Hiatus hernia, Sparse eyebrow, Blepharophimosis, Downslanted palpebr...	OMIM:300895
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Underdeveloped supraorbital ridges, Iris coloboma, ...	OMIM:605627
Hunter-Macdonald Syndrome	Aortic regurgitation, Inguinal hernia, Upslanted palpebral fissure, Hypertension, Mitral regurgit...	OMIM:611962
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Umbilical hernia, Downslanted palpebral fissures, Ptosis	ORPHA:1555
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Blepharophimosis, Ptosis	ORPHA:2031
Visceral Myopathy, Familial, With External Ophthalmoplegia	Ptosis	OMIM:277320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis	OMIM:613077
Distal Deletion 3P	Epicanthus, Telecanthus, Inguinal hernia, Blepharophimosis, Umbilical hernia, Ptosis	ORPHA:1620
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Dilated cardiomyopathy, Mitral regurgitation, Weakness of facial musculature, Ptosis	OMIM:607459
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterio...	ORPHA:438213
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hooded eyelid, Epistaxis, Highly arched eyebrow, Polyhydramnios, Sparse eyebrow, Bilateral ptosis...	OMIM:619841
Acromelic Frontonasal Dysplasia	Telecanthus, Midline central nervous system lipomas, Ptosis	ORPHA:1827
Erdheim-Chester Disease	Congestive heart failure, Xanthelasma, Joint swelling, Pleural effusion, Ptosis	ORPHA:35687
Spinocerebellar Ataxia 36	Ptosis	OMIM:614153
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Facial palsy, Bilateral ptosis, Ectropion of lower eyelids, Heart murmur, Upslanted p...	OMIM:615873
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Umbilical hernia, Bradycardia	ORPHA:90674
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Astigmatism, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:616078
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Upslanted palpebral fissure, Contracture of the proximal interphalangeal...	OMIM:618050
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Upslanted palpebral fissure, Facial capillary hemangioma, Telecanthus, Ptosis	OMIM:620224
Ayme-Gripp Syndrome	Pericarditis, Developmental cataract, Upslanted palpebral fissure, Camptodactyly, Downslanted pal...	OMIM:601088
Spinocerebellar Ataxia Type 36	Ptosis	ORPHA:276198
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Ptosis	OMIM:607483
Microphthalmia, Syndromic 6	Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Retrognathia, Cleft palate, Protruding ...	OMIM:607932
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis	ORPHA:13
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Weakness of facial musculature, Hypertrophic cardiomyopathy, Ptosis	OMIM:220110
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Microcornea, Iris coloboma, Short palpebral fissure, Ptosis	ORPHA:959
Brown-Vialetto-Van Laere Syndrome 1	Facial palsy, Ptosis	OMIM:211530
Van Maldergem Syndrome 2	Epicanthus, Inguinal hernia, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure,...	OMIM:615546
Leigh Syndrome	Multiple joint contractures, Cataract, Congestive heart failure, Hypertrophic cardiomyopathy, Ptosis	ORPHA:506
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Splenomegaly, Abnormality of the spleen, Hepat...	ORPHA:2072
Van Maldergem Syndrome 1	Epicanthus, Camptodactyly, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:601390
Insulin-Like Growth Factor I Deficiency	Ptosis	OMIM:608747
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Microcornea, Upslanted palpebral fissure, Blepharophimosis, Downslanted pa...	OMIM:616734
Pituitary Apoplexy	Ptosis, Hypertension, Hypotension, Mydriasis	ORPHA:95613
Nail-Patella Syndrome	Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign	ORPHA:2614
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:104350
Rhyns Syndrome	Ptosis	OMIM:602152
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Aganglionic megacolon, Abnormal dental enamel morphology, Campt...	ORPHA:2273
Machado-Joseph Disease	Ptosis	OMIM:109150
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Ptosis	OMIM:615510
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect, Anterior wedging of T12, Hearing impairment	OMIM:227645
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Menke-Hennekam Syndrome 1	Epicanthus, Cataract, Telecanthus, Thick eyebrow, Inguinal hernia, Flexion contracture, Upslanted...	OMIM:618332
Cdags Syndrome	Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis	OMIM:603116
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Hydrocephalus, Flexion contracture, Downturned corners...	OMIM:619321
Pfeiffer Syndrome	Ptosis	ORPHA:710
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral ptosis, Hypovolemia, Dehydration, Lower-limb joint contracture, Arthrogryposis multiple...	ORPHA:99885
Oculogastrointestinal Muscular Dystrophy	Ptosis	ORPHA:1876
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Platyspondyly, Scoliosis, Pathologic fr...	OMIM:309000
X-Linked Creatine Transporter Deficiency	Ptosis	ORPHA:52503
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Protruding ear, Mitral valve prolaps...	OMIM:617107
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Ptosis	OMIM:608643
Shprintzen-Goldberg Syndrome	Telecanthus, Inguinal hernia, Camptodactyly of finger, Mitral regurgitation, Umbilical hernia, Do...	ORPHA:2462
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Camptodactyly of finger, Pyloric stenosi...	ORPHA:3138
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral fissure, Ptosis	ORPHA:319182
Autosomal Recessive Ataxia, Beauce Type	Ptosis	ORPHA:88644
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect, High palate, Bilateral se...	OMIM:619418
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Ptosis	OMIM:300352
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy, Ptosis	ORPHA:436271
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Epicanthus, Upslanted palpebral fissure, Astigmatism, Epicanthus inversus, Short pal...	OMIM:618820
Kindler Epidermolysis Bullosa	Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis,...	ORPHA:2908
Non-Functioning Pituitary Adenoma	Increased intraabdominal fat, Hypotension, Ptosis	ORPHA:91349
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Facial hypotonia, Sparse eyebrow, Periorbital fullness, Asti...	ORPHA:506358
Cohen-Gibson Syndrome	Epicanthus, Cataract, Flexion contracture, Camptodactyly, Umbilical hernia, Downslanted palpebral...	OMIM:617561
3Mc Syndrome 2	Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis	OMIM:265050
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Inguinal hernia, Keratitis, Absent eyelashes, Oligohydramnios, Hyper...	OMIM:308205
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Telecanthus, Lipoma, Downslanted palpebral fissures, Ptosis	OMIM:603671
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Bronchiectasis, Long philtrum, Emphysema, Peripheral pulmonary artery ...	OMIM:123700
Bickerstaff Brainstem Encephalitis	Facial palsy, Mydriasis, Anisocoria, Weakness of facial musculature, Facial paralysis, Ptosis	ORPHA:79138
Six2-Related Frontonasal Dysplasia	Epicanthus inversus, Ptosis	ORPHA:488437
Autosomal Recessive Spastic Paraplegia Type 77	Ptosis	ORPHA:466722
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Thoracic dysplasia, Pulmonary hypoplasia, Narro...	OMIM:615503
Syndromic Diarrhea	Villous atrophy, Gastritis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arter...	ORPHA:84064
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Polyhydramnios, Astigmatism, Underdeveloped supraorbital ridges, Short palpebral fiss...	OMIM:617157
Monosomy 13Q14	Epicanthus, Cataract, Iris coloboma, Ptosis	ORPHA:1587
Joubert Syndrome 8	Ptosis	OMIM:612291
Tukel Syndrome	Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, ...	ORPHA:29207
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Facial palsy, Bilateral ptosis, Dilated cardiomyopathy, Hypertrop...	OMIM:164310
Myasthenic Syndrome, Congenital, 21, Presynaptic	Knee flexion contracture, Weakness of facial musculature, Ptosis	OMIM:617239
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Ventricular septal defect, Micrognathi...	OMIM:606170
Alexander Disease	Facial palsy, Sudden cardiac death, Hypertension, Hypotension, Ptosis	ORPHA:58
Autosomal Dominant Robinow Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Upslanted ...	ORPHA:3107
Townes-Brocks Syndrome 1	Holoprosencephaly, Atrial septal defect, Tethered cord, Microtia, Metatarsal synostosis, Umbilica...	OMIM:107480
Joubert Syndrome 21	Splenomegaly, Ptosis	OMIM:615636
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ptosis	OMIM:251900
Saethre-Chotzen Syndrome	Blepharospasm, Epicanthus, Ptosis	ORPHA:794
Joubert Syndrome 1	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:213300
Liver Disease, Severe Congenital	Joint laxity, Chronic gastritis, Ventricular septal defect, Pneumonia, Left atrial enlargement, C...	OMIM:619991
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Corneal ulceration, Corneal opacity, Ptosis	OMIM:615273
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Pulmon...	ORPHA:137675
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:616728
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Abetalipoproteinemia	Congestive heart failure, Keratoconjunctivitis sicca, Corneal ulceration, Ptosis	ORPHA:14
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Neurofibromatosis-Noonan Syndrome	Epicanthus, Pulmonic stenosis, Lisch nodules, Downslanted palpebral fissures, Ptosis	OMIM:601321
Familial Cerebral Cavernous Malformation	Venous malformation, Scoliosis, Cerebral hemorrhage	ORPHA:221061
Holoprosencephaly 4	Ptosis	OMIM:142946
Combined Oxidative Phosphorylation Deficiency 12	Ptosis	OMIM:614924
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Umbilical hernia, Bradycardia	ORPHA:226307
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Ptosis	OMIM:609037
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Eyelid coloboma, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis	OMIM:167100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Flexion contracture, Upslanted palpebral fissure, Camptodactyly, Blepharophimosis, Epicanthus inv...	OMIM:309590
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:300661
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis	ORPHA:3217
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Inguinal hernia, Antecubital pterygium, Knee flexion contracture, Popliteal pterygium...	OMIM:609945
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Ptosis	OMIM:259100
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy, Ptosis	ORPHA:2609
Prolactinoma	Hypotension, Ptosis	ORPHA:2965
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Inguinal hernia, Genital hernia, Cystocele, Atypical scarring of skin, K...	ORPHA:285
Kallmann Syndrome	Ptosis	ORPHA:478
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Cataract, Ptosis	OMIM:124000
14Q22Q23 Microdeletion Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:264200
Cushing Syndrome Due To Ectopic Acth Secretion	Dorsocervical fat pad, Myocardial infarction, Neoplasm of the thymus, Pedal edema, Abnormal lymph...	ORPHA:99889
Johanson-Blizzard Syndrome	Colonic diverticula, Anal atresia, Joint laxity, Ventricular septal defect, Malabsorption, Situs ...	OMIM:243800
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Vertigo, Aortopulmonary window, Abnormal hea...	ORPHA:97214
Penile Agenesis	Posteriorly rotated ears, Ventricular septal defect, Rectal fistula, Atrophy of the spinal cord, ...	ORPHA:49
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ptosis	OMIM:603041
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis	ORPHA:1969
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ptosis	OMIM:620303
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Telangiectasia of the skin, Tran...	ORPHA:286
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Ptosis	OMIM:146255
Early Infantile Epileptic Encephalopathy	Umbilical hernia, Ventricular septal defect, Cleft palate	ORPHA:1934
Arima Syndrome	Hypertension, Ptosis	OMIM:243910
Trichorhinophalangeal Syndrome, Type Ii	Inguinal hernia, Myocardial infarction, Astigmatism, Thick eyebrow, Ptosis	OMIM:150230
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Congen...	ORPHA:436252
Ulnar-Mammary Syndrome	Anal stenosis, Hypoplastic scapulae, Ventricular septal defect, Pyloric stenosis, Elbow flexion c...	OMIM:181450
Joubert Syndrome 5	Ptosis	OMIM:610188
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Ptosis	OMIM:614231
Primrose Syndrome	Hip contracture, Epicanthus, Synophrys, Flexion contracture, Knee flexion contracture, Posterior ...	OMIM:259050
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis	OMIM:161700
Singleton-Merten Syndrome 1	Congestive heart failure, Aortic valve stenosis, Pleural effusion, Ptosis	OMIM:182250
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:309580
Microphthalmia, Syndromic 1	Microcornea, Ciliary body coloboma, Camptodactyly, Joint contracture of the hand, Iris coloboma, ...	OMIM:309800
Homozygous Familial Hypercholesterolemia	Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxc2.

No publications found that use IMPC mice or data for Foxc2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Foxc2^{tm398687(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Foxc2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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