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Gene: Tgfbr3 MGI:104637

Gene Summary

Name:

transforming growth factor, beta receptor III

Synonyms:

TBRIII, 1110036H20Rik, betaglycan

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage
microphthalmia	Tgfbr3^em1(IMPC)Mbp	HET	E15.5
abnormal blood vessel morphology	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta vasculature	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
hemorrhage	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
pale liver	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta morphology	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal kidney morphology	Tgfbr3^em1(IMPC)Mbp	HET	Early adult
abnormal placenta morphology	Tgfbr3^em1(IMPC)Mbp	HET	E15.5
embryonic growth retardation	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
edema	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
preweaning lethality, complete penetrance	Tgfbr3^em1(IMPC)Mbp	HOM	Early adult
abnormal liver size	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
enlarged kidney	Tgfbr3^em1(IMPC)Mbp	HET	Early adult

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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.

X-ray

XRay Images Whole Body Dorso Ventral

82 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

40 Images

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Gross Morphology Embryo E14.5-E15.5

Images

23 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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Human diseases caused by Tgfbr3 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 Tgfbr3 (1 diseases)
Human diseases predicted to be associated with Tgfbr3 (1069 diseases)

The table below shows human diseases associated to Tgfbr3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Cerebral Saccular Aneurysm		Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160

The table below shows human diseases predicted to be associated to Tgfbr3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Genitopalatocardiac Syndrome	Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula...	OMIM:231060
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal...	OMIM:619902
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal...	ORPHA:1354
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Gombo Syndrome	Microphthalmia	OMIM:233270
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Hyperte...	OMIM:189800
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral regurgitatio...	OMIM:142900
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Becker Nevus Syndrome	Pectus carinatum, Shoulder girdle muscle atrophy, Micromelia, Abnormal tibia morphology, Supernum...	ORPHA:64755
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Adducted thumb, Brachydactyly	OMIM:620062
Meacham Syndrome	Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:609813
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Nanophthalmos 4	Microphthalmia	OMIM:615972
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Small hand, Shallow acetabular fossae, Giant platelets, Ulnar deviation of fin...	OMIM:611209
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca...	ORPHA:392
Sandestig-Stefanova Syndrome	Clinodactyly, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Campt...	OMIM:618804
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:1913
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Spondylometaphyseal Dysplasia, Type A4	Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h...	OMIM:609052
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormal heart morphology, Muscular ventricular septal defect, Overlapping toe, Endometriosis, Pe...	ORPHA:363444
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Muscular ventricu...	OMIM:618569
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita...	ORPHA:3097
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr...	OMIM:619657
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Catel-Manzke Syndrome	Oral synechia, Glossoptosis, Cleft palate	ORPHA:1388
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Short thorax, Camptodactyly of finger, Congenital diaphragmatic hernia, Rib se...	ORPHA:2311
Hartnup Disorder	Glossitis	OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Metatropic Dysplasia	Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph...	OMIM:156530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Limb hypertonia, Atrial septal defect, Pericardial ...	OMIM:620070
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:66634
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Thoracic hypoplasia, Thoracic dysplasia, Cholestasis, Genu val...	OMIM:615630
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Sotos Syndrome	Long metacarpals, Muscular ventricular septal defect, Genu valgum, Ventricular septal defect, Lon...	OMIM:117550
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal m...	ORPHA:93267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Hip contracture, Ventricular septal defect,...	OMIM:210710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of...	ORPHA:1926
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ...	OMIM:314390
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Situs inversus totalis, Missing ribs, Rib fusion, Dextrocardia, Short thorax,...	OMIM:613686
Proximal 16P11.2 Microdeletion Syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Rib...	ORPHA:261197
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Kyphomelic Dysplasia	Narrow chest, Micromelia, Short thorax, Undulate ribs, Missing ribs, Bowing of the long bones, An...	ORPHA:1801
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul...	OMIM:146510
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Atrial septal defect	OMIM:618354
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Sandal gap, Biventricular hypertrophy, M...	ORPHA:79324
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Abnormal sternum morphology, Camptodactyly of finger,...	ORPHA:2990
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Missing ribs, Short thorax, Spina bifida occulta, Posterior rib fusion	ORPHA:1797
Aortic Arch Interruption	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:2299
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus...	OMIM:618845
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig...	OMIM:268310
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:270100
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy...	OMIM:600001
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Ventricular septal defect, Radioulnar synostosis, Talipe...	OMIM:134780
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Ventricular septal de...	ORPHA:1507
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E...	OMIM:313850
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate	OMIM:277720
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Multiple Pterygium Syndrome, Escobar Variant	Patellar aplasia, Congenital diaphragmatic hernia, Arachnodactyly, Talipes equinovarus, Long clav...	OMIM:265000
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphyses, Thoracic hypoplasia, S...	OMIM:608728
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2521
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Spina bifida occulta, Sprengel anomaly, Pectus excavatum	OMIM:619227
Endosteal Hyperostosis, Worth Type	Facial palsy, Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:2790
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Patent ductus arteriosus, Bilateral cleft palate	ORPHA:2001
Coffin-Siris Syndrome 11	Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid...	OMIM:618779
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li...	ORPHA:93351
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Gorlin Syndrome	Cardiac fibroma, Arachnodactyly, Rib fusion, Hypogonadotropic hypogonadism, Brachydactyly, Anteri...	ORPHA:377
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re...	OMIM:212093
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr...	OMIM:253800
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large...	OMIM:616716
Feingold Syndrome Type 1	Toe syndactyly, Short thumb, Short middle phalanx of finger, Abnormal heart morphology, Multiple ...	ORPHA:391641
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum	ORPHA:1387
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Adams-Oliver Syndrome 6	Hepatic fibrosis, Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Splenomegaly, ...	OMIM:616589
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate	ORPHA:3201
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Congenital diaphrag...	OMIM:157800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondylocostal Dysostosis 5	Missing ribs, Pectus carinatum, Supernumerary ribs, Posterior rib fusion	OMIM:122600
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Abnormal heart valve morpholog...	ORPHA:1606
Wolf-Hirschhorn Syndrome	Short thumb, Abdominal situs inversus, Preaxial hand polydactyly, Abnormal heart valve morphology...	ORPHA:280
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect	OMIM:619995
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro...	OMIM:228520
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus...	ORPHA:1457
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Barrel-shaped chest, Multicentric ossi...	OMIM:223800
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Broad ribs, Overlapping fingers, Fe...	OMIM:617022
Cog1-Cdg	Posterior rib gap, Rhizomelia, Hepatosplenomegaly, Rib fusion, Talipes equinovarus, Pulmonary art...	ORPHA:263508
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-...	ORPHA:2635
Robinow Syndrome	Short distal phalanx of finger, Abnormal heart morphology, Ventricular septal defect, Missing rib...	ORPHA:97360
Bent Bone Dysplasia Syndrome 2	Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem...	OMIM:620076
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Atrial septal defect, Abnorm...	ORPHA:2475
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:620269
Wolf-Hirschhorn Syndrome	Accessory spleen, Pseudoepiphyses of the metacarpals, Short thumb, Decreased muscle mass, Preaxia...	OMIM:194190
Cornelia De Lange Syndrome 6	Pectus carinatum, Short 1st metacarpal, Atrioventricular canal defect, Down-sloping shoulders, Ar...	OMIM:620568
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Faciocardiomelic Dysplasia, Lethal	Microglossia, Narrow mouth, Neonatal death	OMIM:227270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Overlapping toe, Rib fusion, Talipes equinovarus, Sprengel anomaly, Atrial septal d...	OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Splenomegaly, Ventricular septal defect, Pulmonic...	OMIM:608149
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Hypomandibular Faciocranial Dysostosis	Aglossia, Patent ductus arteriosus, Pursed lips	OMIM:241310
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate...	OMIM:258860
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Thakker-Donnai Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri...	ORPHA:1780
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cuppe...	OMIM:614524
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect, Micromelia, Abnormal rib morphology	ORPHA:2772
Baller-Gerold Syndrome	Radial deviation of the hand, Absent thumb, Forearm undergrowth, Patellar hypoplasia, Carpal syno...	OMIM:218600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ...	OMIM:250220
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Abnormal cardiac septum morphology, Abn...	ORPHA:93941
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue	OMIM:613443
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Narrow chest, Short thorax, Abnormal metaphysis ...	ORPHA:2484
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ventricular septal defect, Congenital muscular torticollis, Sprenge...	ORPHA:2345
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, Hepatomegaly...	OMIM:608836
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence	OMIM:613604
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic...	OMIM:617303
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Duplication of phalanx of ha...	OMIM:263630
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low...	ORPHA:93356
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Thoracic hypoplasia, Femoral bowing, Horizonta...	OMIM:618019
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Abnormal clavicle morpholog...	ORPHA:628
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Neutropenia, Diaphyseal undertubulation, Hepatomegaly, Meta...	ORPHA:175
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth, Patent ductus arteriosus	ORPHA:1972
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Narrow chest, Radial bowing, Severe...	OMIM:151210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger	ORPHA:544488
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Anemia, Abnormal metaphysis morp...	ORPHA:436
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met...	OMIM:187600
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa...	OMIM:612474
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl...	OMIM:616367
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Kyphomelic Dysplasia	Radial bowing, Flared metaphysis, Micromelia, Thoracic hypoplasia, Dumbbell-shaped humerus, Later...	OMIM:211350
Zttk Syndrome	Aortic regurgitation, Small hand, Cervical ribs, Absent gallbladder, Ventricular septal defect, R...	OMIM:617140
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum	OMIM:612292
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses of the phalanges of the...	OMIM:208500
Joubert Syndrome 18	Cleft palate, Lobulated tongue	OMIM:614815
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 3	Ventricular septal defect, Missing ribs, Hypogonadotropic hypogonadism, Supernumerary ribs, Rib f...	OMIM:206900
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Ventricul...	ORPHA:1488
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Ventricular septal ...	ORPHA:2876
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Hypertrophic cardiomyopathy, ...	OMIM:616897
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Bowing of...	ORPHA:2097
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions...	OMIM:250420
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl...	OMIM:274000
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Internally rotated shoulders, Hepatosplenomegaly, Hepatic steatosis, Hip contracture...	OMIM:619503
Cerebrofaciothoracic Dysplasia	Rib fusion, Narrow chest, Sprengel anomaly, Bifid ribs	ORPHA:1394
Trisomy 8Q	Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi...	ORPHA:1752
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Neutropenia, Abnormal rib morphology	ORPHA:2643
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Tri...	OMIM:615550
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Glycogen Storage Disease Iv	Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Bra...	OMIM:232500
Aicardi Syndrome	Small hand, Missing ribs, Supernumerary ribs, Hepatoblastoma, Rib fusion, Bifid ribs, Hip dysplasia	ORPHA:50
Poland Syndrome	Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diap...	ORPHA:2911
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Pulmonary arteria...	ORPHA:2519
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rachitic rosa...	ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Trapezoida...	OMIM:307800
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Genu valgum, Limb muscle weakness, Horizontal inferior border of scapula, M...	ORPHA:239
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Bi...	OMIM:620454
Prune Belly Syndrome	Congenital hip dislocation, Tetralogy of Fallot, Decreased fertility, Ventricular septal defect, ...	ORPHA:2970
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, ...	ORPHA:1666
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Broad ribs, Genu valgum, Splenomegaly, Mac...	ORPHA:583
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Hepatosplenomegaly, Barrel-shaped chest, Neonatal deat...	OMIM:215140
Alagille Syndrome	Short distal phalanx of finger, Cholestasis, Clinodactyly of the 5th finger, Reduced number of in...	ORPHA:52
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly...	OMIM:208540
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy	OMIM:614678
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndact...	OMIM:263520
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Narrow chest, Micromelia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, 11 pairs ...	OMIM:607872
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Cone-shaped epiphysis, Atrioventricular block, Abnormal scapula morphology, Rhizome...	ORPHA:93317
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Narrow chest, Short middle phalanx of finger...	OMIM:618853
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Thickened ribs	OMIM:252920
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Neonatal death, Ventricular septal defect, Hepatomegaly, Short foot, Short ...	OMIM:269860
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sa...	ORPHA:1860
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Patent ductus a...	OMIM:612938
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
3M Syndrome	Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Short t...	ORPHA:2616
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy	OMIM:614688
Wrinkly Skin Syndrome	Congenital hip dislocation, Hypoplasia of the musculature, Slender long bone, Muscular ventricula...	OMIM:278250
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Achondrogenesis, Type Ia	Broad clavicles, Hypoplastic scapulae, Narrow chest, Abnormal femoral metaphysis morphology, Seve...	OMIM:200600
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Agnathia-Otocephaly Complex	Aglossia, Microglossia, Narrow mouth, Cleft palate	OMIM:202650
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Common atrium...	OMIM:225500
Osteogenesis Imperfecta, Type Ii	Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Congest...	OMIM:166210
Mosaic Trisomy 14	Narrow chest, Abnormal rib morphology, Camptodactyly of finger	ORPHA:1703
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:2184
Cofs Syndrome	Microphthalmia	ORPHA:1466
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Narrow palate, Exaggerated median tongue furrow	ORPHA:313892
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal...	OMIM:618106
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bon...	OMIM:252600
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Broad clavicles, Aortic regurgitation, Irregular acetabular roof, Broad ri...	OMIM:619698
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventric...	OMIM:280000
Aicardi Syndrome	Missing ribs, Supernumerary ribs, Hepatoblastoma, Rib fusion, Bifid ribs, Proximal placement of t...	OMIM:304050
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Bell-shaped thorax, Neonatal death, Talipes equinovarus, Aplasia/...	OMIM:108720
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Cleft soft palate, Esophageal atresia	OMIM:614526
Hurler Syndrome	Abnormal epiphysis morphology, Narrow pelvis bone, Abnormal diaphysis morphology, Camptodactyly o...	ORPHA:93473
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Pallister-Hall-Like Syndrome	Median cleft upper lip, Microglossia, Cleft palate	OMIM:241800
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Ventri...	OMIM:271640
Arthrogryposis, Distal, Type 5D	Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate	OMIM:615065
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Broad clavicles, Congestive heart failure, Rhizomelic arm shortening...	ORPHA:508542
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation...	OMIM:311300
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena...	OMIM:276700
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Mucopolysaccharidosis Type 4	Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Abnormal heart valve morphology, G...	ORPHA:582
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M...	ORPHA:3082
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Patent ductus arteriosus, Cleft palate	ORPHA:1790
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ...	OMIM:600785
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Congenital diaphragmatic hernia, Polydactyly, Apical muscular ventricular...	OMIM:301022
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, Hepatomegaly, Pe...	OMIM:253200
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Con...	ORPHA:2847
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve...	ORPHA:3304
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the capital femoral epiphysis, Genu ...	OMIM:253010
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis...	ORPHA:1358
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Narrow ches...	OMIM:250250
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Skeletal muscle atrophy, Abnormal rib morphology, Abnormal hip bone morphology,...	ORPHA:3068
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal sternum morphology, Abnormal tibia morpho...	ORPHA:1335
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Robinow Syndrome, Autosomal Dominant 2	Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal...	OMIM:616331
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Hamartomatous polyposis, Colon...	ORPHA:2930
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Orofaciodigital Syndrome Ii	Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ...	OMIM:252100
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc...	ORPHA:3426
Achondrogenesis Type 1B	Narrow chest, Micromelia, Abnormal rib morphology, Talipes equinovarus, Short thorax, Short foot	ORPHA:93298
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Radioulnar synostosis, Abnormal metacarpal morphology, Hypoplasia of...	ORPHA:2319
Seckel Syndrome 2	Microglossia, Microdontia	OMIM:606744
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo...	OMIM:618874
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Renpenning Syndrome	Skeletal muscle atrophy, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Cl...	ORPHA:3242
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly...	ORPHA:1318
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Distal Limb Deficiencies-Micrognathia Syndrome	Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate	ORPHA:1307
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology	ORPHA:2759
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence	OMIM:620183
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Cantú Syndrome	Short distal phalanx of finger, Narrow chest, Finger syndactyly, Hypertrophic cardiomyopathy, Bro...	ORPHA:1517
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Scapuloh...	OMIM:602471
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Increased hepatic echogenicity, Flared metaphysis, Short finger,...	OMIM:608940
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Hypodontia, Enamel hypoplasia	OMIM:253250
Lelis Syndrome	Hypodontia, Carious teeth, Furrowed tongue	ORPHA:140936
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula...	OMIM:618529
H Syndrome	Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney	ORPHA:168569
Chime Syndrome	Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se...	ORPHA:3474
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Abn...	ORPHA:2522
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Pierpont Syndrome	Microphthalmia	OMIM:602342
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Narrow mouth, Jejunal atresia, Hypodontia, High palate, Anal at...	ORPHA:989
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue	OMIM:614204
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Absent gallbladder, Horizon...	OMIM:617925
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav...	ORPHA:505248
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Narrow chest, Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnod...	OMIM:207410
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Abnormal heart morphology, Transient ischemic att...	ORPHA:500150
Lethal Congenital Contracture Syndrome Type 1	Abnormal hip bone morphology, Skeletal muscle atrophy, Slender long bone, Abnormal rib morphology	ORPHA:1486
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Rib fusion, Missing ribs, Short ribs	OMIM:271520
Trisomy 13	Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Ventricular septal defect, At...	ORPHA:3378
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the spleen, Abnormality of the liver, Cong...	ORPHA:1834
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Tarp Syndrome	Hepatic failure, Clinodactyly, Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Postaxia...	OMIM:311900
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Asplenia, Hypoplastic spleen	OMIM:602361
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Neu-Laxova Syndrome 1	Joint contracture of the hand, Patent foramen ovale, Ventricular septal defect, Neonatal death, T...	OMIM:256520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology	ORPHA:2145
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Trisomy 1Q	Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Congenital diap...	ORPHA:261344
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact...	ORPHA:3258
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar...	OMIM:600920
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma	ORPHA:276280
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Stillbirth, Bifid...	OMIM:616300
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter...	ORPHA:79328
Dysosteosclerosis	Short diaphyses, Narrow chest, Broad femoral neck, Facial paralysis, Flared metaphysis, Broad rib...	OMIM:224300
Mandibuloacral Dysplasia	Dental crowding, High palate, Hypoplasia of teeth, Abnormal tongue morphology	ORPHA:2457
Restrictive Dermopathy	Camptodactyly of finger, Multiple joint contractures, Transposition of the great arteries, Atrial...	ORPHA:1662
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Narr...	ORPHA:1452
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia...	ORPHA:79259
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney	OMIM:252500
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip	OMIM:615726
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Flared metaphysis, Cone-shape...	OMIM:309350
Otopalatodigital Syndrome Type 2	Narrow chest, Synostosis of carpal bones, Short thumb, Carpal synostosis, Preaxial polydactyly, C...	ORPHA:90652
Carpenter Syndrome 2	Situs inversus totalis, Knee flexion contracture, Transposition of the great arteries, Atrial sep...	OMIM:614976
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil...	OMIM:616449
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept...	ORPHA:373
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Protruding tongue, High palate, Short philtrum, Patent ductus arteriosus	OMIM:300963
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98795
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ...	OMIM:617478
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Vater/Vacterl Association	Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s...	OMIM:192350
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615108
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Glossoptosis, Cleft palate	ORPHA:1427
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Abnormal pulmonary valve morphology, Splenomegaly, B...	ORPHA:667
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis, Patent d...	OMIM:277380
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Cranioectodermal Dysplasia 2	Clinodactyly, Cholestasis, Atrial septal defect, Hepatomegaly, Bile duct proliferation, Syndactyl...	OMIM:613610
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa...	ORPHA:364577
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Osteogenesis Imperfecta, Type X	Thin ribs, Rhizomelia, Narrow chest, Micromelia, Thoracic hypoplasia, Broad ribs, Genu valgum, Fi...	OMIM:613848
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Abnormal rib morphology, N...	ORPHA:83
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 80	Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ...	OMIM:618580
Cranioectodermal Dysplasia 1	Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all fingers, Broad toe, Flattened ...	OMIM:218330
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc...	OMIM:608670
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal limb bone morphology, Congenital muscular torticollis, Abnormal rib mo...	OMIM:118100
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Abnormality of th...	ORPHA:887
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Orofaciodigital Syndrome I	Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ...	OMIM:311200
Treacher-Collins Syndrome	Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ...	ORPHA:861
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney	ORPHA:500095
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Short humerus, Aplasia...	ORPHA:2878
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia	OMIM:175500
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:603194
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615109
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Atrioventricular canal defect, Splenomegaly, Horizontal ribs...	OMIM:617088
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu...	OMIM:616894
Aspergillosis	Hepatitis, Abnormal long bone morphology, Eosinophilia, Neutropenia, Abnormal rib morphology, Int...	ORPHA:1163
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm...	ORPHA:570
Myhre Syndrome	Abnormal epiphysis morphology, Hypogonadism, Abnormal metaphysis morphology, Hypertension, Brachy...	ORPHA:2588
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Sprengel anomaly, Brachydactyly, Abnormal rib morphology	ORPHA:2180
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of ...	OMIM:114290
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Clinodactyly, Decreased fertility, Humeroradial synostosis, Arachnodactyly,...	ORPHA:95699
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog...	OMIM:610253
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Elevated circulating hepatic transaminase concentration, Sandal gap, Decreased fibular...	OMIM:619127
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi...	ORPHA:2754
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate...	OMIM:117650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate	OMIM:300534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati...	OMIM:312870
Angelman Syndrome Due To A Point Mutation	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:411511
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Atrioventricular canal defect, Genu valgum, Short h...	OMIM:600373
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p...	OMIM:277170
Cree Impaired Intellectual Development Syndrome	Cleft soft palate	OMIM:606851
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, H...	ORPHA:2215
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Protruding tongue	OMIM:242860
Acrodermatitis Enteropathica	Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis	ORPHA:37
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:618914
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Macroglossia, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Icf Syndrome	Macroglossia, Protruding tongue	ORPHA:2268
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Smooth philtrum, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections	OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gingival overgrowth, Wide mouth, Protruding tongue	OMIM:618797
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Narrow mouth	ORPHA:990
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Gingival overgrowth, Narrow mouth, Protruding tongue	OMIM:230600
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Ogden Syndrome	Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Marshall-Smith Syndrome	Gingival overgrowth, Open mouth, Protruding tongue	ORPHA:561
Leprechaunism	Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney	ORPHA:508
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Mucopolysaccharidosis Type 3	Atrioventricular block, Recurrent tonsillitis, Abnormal clavicle morphology, Reduced left ventric...	ORPHA:581
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Ring Chromosome 22 Syndrome	Protruding tongue, Thick vermilion border	ORPHA:1446
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Hydrolethalus	Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Pectus carinatum, Short toe, Ulnar deviation of the 2nd finger, ...	OMIM:616145
Raine Syndrome	Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Neonatal death, E...	OMIM:259775
Meckel Syndrome, Type 4	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:611134
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Branchial anomaly, Oligodo...	ORPHA:453499
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted...	OMIM:212066
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Angelman Syndrome	Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth	OMIM:105830
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon, Pat...	ORPHA:1051
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrhythmia, Absent radius, Short ...	OMIM:181450
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate	OMIM:617804
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe...	OMIM:616078
X-Linked Agammaglobulinemia	Glossoptosis	ORPHA:47
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op...	ORPHA:2750
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased fertility, Abnormal rib morphology	ORPHA:2234
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m...	ORPHA:89936
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis	ORPHA:2031
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Frontorhiny	Bifid tongue, Cleft palate	ORPHA:391474
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:158350
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula, Elbow flexion ...	OMIM:200980
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology	ORPHA:2578
Microcephaly 26, Primary, Autosomal Dominant	Gingival overgrowth, Protruding tongue, Long philtrum	OMIM:619179
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Cole-Carpenter Syndrome	Bowing of the long bones, Abnormal metaphysis morphology, Crumpled long bones, Abnormal rib morph...	ORPHA:2050
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Orofaciodigital Syndrome Type 10	Cleft soft palate, Long philtrum, Accessory oral frenulum	ORPHA:2756
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Rodrigues Blindness	Microphthalmia	OMIM:268320
Craniorachischisis	Bifid sternum, Sirenomelia, Congenital diaphragmatic hernia	ORPHA:63260
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat...	OMIM:300990
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Barrel-shaped chest, ...	OMIM:610915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Carey-Fineman-Ziter Syndrome 1	Microglossia, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:254940
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Short philtrum, Cleft soft palate	ORPHA:293725
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Furrowed tongue, Oral leukoplakia, Microdontia	OMIM:148210
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Bowing of the long bone...	ORPHA:666
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect	OMIM:614886
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Genu valgum, Hip contracture, Myopathy, Bowing of the long bo...	ORPHA:800
Alagille Syndrome 1	Short distal phalanx of finger, Hepatic failure, Elevated circulating hepatic transaminase concen...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid's bow, Everte...	ORPHA:464738
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Loeys-Dietz Syndrome 5	Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat...	OMIM:615582
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy	OMIM:211530
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Monosomy 18P	Microphthalmia	ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Branchial fistula, Ankyloglossia, Narrow mouth, Truncus arteriosus, Thin upp...	ORPHA:261330
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Temtamy Syndrome	Microphthalmia	OMIM:218340
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low...	ORPHA:870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo...	ORPHA:158668
Pyknoachondrogenesis	Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bone, Muscular edema, ...	ORPHA:3003
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pelvis-Shoulder Dysplasia	Microglossia, Cleft palate, Thick anterior alveolar ridges	ORPHA:2839
Pagod Syndrome	Hypoplastic left heart, Abnormal clavicle morphology, Abnormality of the spleen, Situs inversus t...	ORPHA:991
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Open bite, Ankylog...	ORPHA:2907
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru...	ORPHA:769
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, S...	OMIM:619479
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Pectus carinatum, Abnormal pelvic girdle bone morphology, Carpal synostosis...	OMIM:272460
Moebius Syndrome	Microphthalmia	OMIM:157900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98794
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Patent ductus arteriosus, Submucous cleft soft palate	ORPHA:2282
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Decreased muscle mass, Bowed humerus, Intraventricular hemorrhage, Hip ...	OMIM:616507
Cerebrocostomandibular Syndrome	Short hard palate, Glossoptosis, Cleft palate	ORPHA:1393
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Mosaic Trisomy 8	Narrow chest, Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis b...	ORPHA:96061
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Cleft palate	ORPHA:94068
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth...	ORPHA:2108
Kleefstra Syndrome Due To 9Q34 Microdeletion	Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth	ORPHA:96147
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
1Q21.1 Microdeletion Syndrome	Ankyloglossia, High palate, Patent ductus arteriosus, Long philtrum	ORPHA:250989
Al-Gazali Syndrome	Broad distal phalanx of finger, Bowed humerus, Wrist flexion contracture, Bilateral talipes equin...	OMIM:609465
Trisomy 18	Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragma...	ORPHA:3380
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil...	OMIM:180700
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Bifid ton...	OMIM:616580
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Generalized Pustular Psoriasis	Cheilitis, Geographic tongue	ORPHA:247353
Tarp Syndrome	Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft pala...	ORPHA:2886
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Microphthalmia	ORPHA:2505
Intellectual Developmental Disorder, Autosomal Dominant 73	Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb...	OMIM:620450
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Atelosteogenesis Type Iii	Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Thoracic hypoplasia, Short t...	ORPHA:56305
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer...	ORPHA:434179
Smith-Lemli-Opitz Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger s...	ORPHA:818
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do...	ORPHA:371428
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Broad femoral neck, Distal shortening of limbs, Thick...	ORPHA:488434
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Hypodontia, Ectopic anus, Anal atresia, Tra...	ORPHA:2745
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Joubert Syndrome 14	Meningocele, Encephalocele, Microphthalmia	OMIM:614424
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morphology, Abnormal pelvis...	ORPHA:249
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Congenital Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93400
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Limb-Mammary Syndrome	Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate	ORPHA:69085
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate	OMIM:154500
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Autosomal Dominant Robinow Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ...	ORPHA:3107
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa	OMIM:158310
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Diastema, Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Wid...	OMIM:301040
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de...	OMIM:616652
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atresia, Arthrogryposi...	OMIM:301056
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C...	OMIM:619950
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Protruding tongue, Macroglossia, High palate, Patent ductus arteriosus	OMIM:214100
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Kinsship Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Gingi...	OMIM:619297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, B...	OMIM:615948
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy	ORPHA:101085
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth, Abnormal esophagu...	ORPHA:89842
Refsum Disease	Microphthalmia	ORPHA:773
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Missing ribs, Abnormal rib morphology, Aplasia/hypoplasia of the ...	ORPHA:2769
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Proteus Syndrome	Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney	ORPHA:744
Leukocyte Adhesion Deficiency Type Ii	Gingival overgrowth, Protruding tongue, Deep philtrum, Long upper lip, Narrow palate, Severe peri...	ORPHA:99843
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Marshall-Smith Syndrome	Eclabion, Anteriorly placed anus, Gingival overgrowth, Irregular dentition, Microdontia, Short ph...	OMIM:602535
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, Patent ductus arteriosus, Hig...	OMIM:616975
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Narrow mouth, Protruding tongue, Thick vermilion border	OMIM:608779
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Developmental And Epileptic Encephalopathy 100	Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi...	OMIM:619777
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Mitral regurgitation, Tapered finger, Drumstick terminal phalang...	OMIM:303600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Radio-Renal Syndrome	Micromelia, Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Short palm	ORPHA:3015
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Distal Deletion 15Q	Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Patent duct...	ORPHA:1596
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,...	ORPHA:163956
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume...	ORPHA:3404
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Charge Syndrome	Lymphopenia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Bi...	OMIM:214800
Giant Cell Arteritis	Glossitis	ORPHA:397
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defect, Ab...	OMIM:268300
Monosomy 9Q22.3	Cardiac fibroma, Polydactyly, Abnormal rib morphology, Pectus excavatum, Rhabdomyosarcoma	ORPHA:77301
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Joubert Syndrome 1	Macroglossia, Triangular-shaped open mouth, Protruding tongue	OMIM:213300
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Angelman Syndrome	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:72
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cousin Syndrome	Microglossia, Cleft palate, Alveolar ridge overgrowth	OMIM:260660
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl...	OMIM:618223
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Patent...	ORPHA:96149
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Ankyloglossia, Downturned corners of mouth, Cleft palate	ORPHA:488642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu...	OMIM:618164
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Micro Syndrome	Microphthalmia	ORPHA:2510
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort...	ORPHA:391665
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Finger syndactyly, Abnormal rib morphology	ORPHA:1300
Stickler Syndrome	Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ...	ORPHA:828
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Carious teeth, Smooth tongue, Pursed lips	OMIM:601559
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ...	ORPHA:2908
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Intestinal malrotation, Thin upper lip vermilion, Smooth philtrum, ...	OMIM:249000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, High palate, Protruding tongue	OMIM:617062
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Macroglossia, High palate, ...	ORPHA:444077
Oculoauricular Syndrome	Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Patent ductus arteriosus	OMIM:614557
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Microphthalmia	ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Hardikar Syndrome	Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera...	OMIM:301068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Focal Dermal Hypoplasia	Hypoplasia of the iris, Umbilical hernia, Spina bifida, Microphthalmia	ORPHA:2092
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Mosaic Trisomy 9	Spina bifida, Microphthalmia	ORPHA:99776
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Pat...	ORPHA:2554
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Anteriorly placed anus, Enamel hypoplasia, Cleft palate	OMIM:151050
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Wolcott-Rallison Syndrome	Double outlet right ventricle, Atrial septal defect	ORPHA:1667
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia	OMIM:619879
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Long philtrum	ORPHA:50945
Cowden Syndrome	Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis	ORPHA:201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth	OMIM:619321
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Meckel Syndrome	Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:564
Townes-Brocks Syndrome	Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty...	ORPHA:857
Cat Eye Syndrome	Umbilical hernia, Microphthalmia	OMIM:115470
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Fontaine Progeroid Syndrome	High, narrow palate, Long philtrum, Anteriorly placed anus, Narrow mouth, Protruding tongue, Olig...	OMIM:612289
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Incontinentia Pigmenti	Spina bifida occulta, Umbilical hernia, Microphthalmia	ORPHA:464
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Branchial cyst, Ankylogloss...	OMIM:620186
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,...	OMIM:309580
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Fryns Syndrome	Microphthalmia	ORPHA:2059
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2162
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy	ORPHA:466768
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Kawasaki Disease	Strawberry tongue, Lip fissure, Glossitis, Cheilitis	ORPHA:2331
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Tetralogy of Fallot, Abnormal aortic valve morphology, Po...	ORPHA:138
Yunis-Varon Syndrome	High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Premature loss of primar...	ORPHA:3472
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Glucagonoma	Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction	ORPHA:97280
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Microphthalmia	ORPHA:2166
Monosomy 9P	Abnormality of the tarsal bones, Congenital diaphragmatic hernia, Abnormal rib morphology, Postax...	ORPHA:261112
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Okamoto Syndrome	Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Intestin...	ORPHA:2729
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate	ORPHA:124
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V...	OMIM:619472
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hypoplastic aortic arch, Mitral valve prolapse, Ventricular septal defect,...	OMIM:300166
Fraser Syndrome	Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Orofacial cleft, Anal atres...	ORPHA:2052
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Smith-Lemli-Opitz Syndrome	Bifid uvula, Microglossia, Dental crowding, Long philtrum, Intestinal malrotation, Aganglionic me...	OMIM:270400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe	Abnormal epiphysis morphology, Azoospermia, Genu valgum, Thrombocytopenia, Abnormal rib morpholog...	ORPHA:534
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Degcags Syndrome	Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum, Intestinal atr...	OMIM:619488
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short uvula, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Short...	OMIM:619475
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narrow mouth, Oral mucosal bl...	ORPHA:79408
Neuroocular Syndrome 1	Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har...	OMIM:619539
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Cleft soft palate, Supernumerary tooth, Widely spaced teeth	ORPHA:268261
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Chilton-Okur-Chung Neurodevelopmental Syndrome	Widely spaced teeth, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Agenesis of inciso...	OMIM:619841
Histiocytoid Cardiomyopathy	Congenital aphakia, Microphthalmia	ORPHA:137675
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Fanconi Anemia	Umbilical hernia, Aplasia/Hypoplasia of the iris, Spina bifida, Microphthalmia	ORPHA:84
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Smooth tongue	ORPHA:3206
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persistence of primary...	ORPHA:740
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Bilateral Perisylvian Polymicrogyria	Protruding tongue	ORPHA:98889
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microsporidiosis	Glossitis	ORPHA:2552
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, An...	ORPHA:93271
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
22Q11.2 Deletion Syndrome	Meningocele, Umbilical hernia, Spina bifida, Microphthalmia	ORPHA:567
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Microphthalmia	OMIM:613884
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Mend Syndrome	Microphthalmia	ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Myhre Syndrome	Microphthalmia	OMIM:139210
Cockayne Syndrome	Microphthalmia	ORPHA:191
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Plague	Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Glossitis	ORPHA:707
Fryns Syndrome	Microphthalmia	OMIM:229850
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microphthalmia, Syndromic 6	Bifid uvula, High palate, Microglossia, Cleft palate	OMIM:607932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Roberts Syndrome	Microphthalmia	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Congenital Disorder Of Glycosylation, Type Iiw	Ankyloglossia, Supernumerary tooth	OMIM:619525
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:261537
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:261552
Carney Complex	Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto...	ORPHA:1359
Fraser Syndrome 1	Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Witteveen-Kolk Syndrome	Branchial fistula, Microphthalmia	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Hydrolethalus Syndrome 1	Anencephaly, Microphthalmia	OMIM:236680
Choreoacanthocytosis	Protruding tongue	ORPHA:2388
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
8Q24.3 Microdeletion Syndrome	Spina bifida occulta, Branchial cyst, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Branchiooculofacial Syndrome	Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Doors Syndrome	Double outlet right ventricle	ORPHA:79500
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800

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 Tgfbr3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tgfbr3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Transforming growth factor receptor III (Betaglycan) regulates the generation of pathogenic Th17 cells in EAE.	Frontiers in immunology (February 2023)	Tgfbr3^{tm1a(EUCOMM)Hmgu}	PMC9968395

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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
Tgfbr3^{tm46129(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tgfbr3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgfbr3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tgfbr3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Tgfbr3 MGI:104637

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

Human diseases caused by Tgfbr3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data