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

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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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Gross Morphology Embryo E14.5-E15.5

Images

23 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 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 (1072 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		Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr...	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	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Pierre Robin Syndrome	Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:261800
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Pierre Robin Sequence With Facial And Digital Anomalies	Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:311895
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Poland Syndrome	Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas...	OMIM:173800
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi...	OMIM:620294
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Genitopalatocardiac Syndrome	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula...	OMIM:231060
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch...	ORPHA:860
Robin Sequence-Oligodactyly Syndrome	Cleft palate, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Auriculocondylar Syndrome 4	Narrow mouth, Cleft palate, Glossoptosis	OMIM:620457
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne...	OMIM:619902
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Mesomelic/rhiz...	ORPHA:1354
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v...	OMIM:620203
Gombo Syndrome	Microphthalmia	OMIM:233270
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Hypertension, Elevated circulating hepatic transaminase concentr...	OMIM:189800
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pectu...	OMIM:142900
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Coxa...	ORPHA:1988
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Muscular ventricular septal defect, Brachydactyly	OMIM:620062
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Micromelia, ...	ORPHA:64755
Meacham Syndrome	Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary ...	OMIM:608978
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Slender finger	OMIM:609813
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Microglossia	ORPHA:141152
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad...	ORPHA:3268
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert...	OMIM:613424
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Nanophthalmos 4	Microphthalmia	OMIM:615972
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Rhizomelia, Short long bone, Posterior rib gap, Camptodactyly, Rib fusio...	OMIM:611209
Holt-Oram Syndrome	Pectus excavatum, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal metacarpal mo...	ORPHA:392
Sandestig-Stefanova Syndrome	Rocker bottom foot, Perimembranous ventricular septal defect, Muscular ventricular septal defect,...	OMIM:618804
Fetal Trimethadione Syndrome	Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o...	ORPHA:1913
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Premature ovarian i...	ORPHA:363444
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han...	OMIM:618569
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Cleft palate, Glossoptosis	ORPHA:166100
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth...	OMIM:614669
Burning Mouth Syndrome	Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm...	ORPHA:353253
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Meacham Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven...	ORPHA:3097
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Poirier-Bienvenu Neurodevelopmental Syndrome	Open mouth, Downturned corners of mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se...	OMIM:619657
Catel-Manzke Syndrome	Cleft palate, Glossoptosis, Oral synechia	ORPHA:1388
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Spina bifida occulta, Finger syndactyly, Short thorax, Abnormal ...	ORPHA:2311
Hartnup Disorder	Glossitis	OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Metatropic Dysplasia	Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Long coccyx, Flared iliac wing, F...	OMIM:156530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Limb hypertonia, Multiple muscular ventricular septal defects, Pericardial ef...	OMIM:620070
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Hypochromic microcytic anemia, Prolonged QT interval, Elevate...	ORPHA:66634
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Hepatomegaly, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of th...	OMIM:615630
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se...	ORPHA:1727
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Sotos Syndrome	Genu valgum, Muscular ventricular septal defect, Prolonged neonatal jaundice, Large hands, Long p...	OMIM:117550
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Hypertension, Prol...	OMIM:210710
Heterotaxy, Visceral, 1, X-Linked	Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit...	OMIM:306955
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Diabetic Embryopathy	Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp...	ORPHA:1926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Neonatal death,...	OMIM:314390
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,...	ORPHA:3241
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries, Macroglossia	OMIM:616789
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia, Spina bifida occulta, Bell-shaped thorax, Short thorax, Pec...	OMIM:613686
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Hand polydactyly...	ORPHA:261197
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula...	ORPHA:1801
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ...	OMIM:612158
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Alg12-Cdg	Muscular ventricular septal defect, Clinodactyly of the 5th finger, Proximal placement of thumb, ...	ORPHA:79324
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal aortic valve morphology, Spina bifida occulta, Finger syndactyly, Abnormal sternum morph...	ORPHA:2990
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion	ORPHA:1797
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic...	OMIM:618845
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Pectus excavatum, B...	OMIM:268310
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Situs inversus totalis, Hepatomegaly, Femoral bowing, Cholestasis, Truncus arteriosus...	OMIM:615415
Hypoglossia With Situs Inversus	Narrow mouth, Hypodontia, High palate, Microglossia	OMIM:612776
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu...	OMIM:270100
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:600001
Metaphyseal Chondrodysplasia, Schmid Type	Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace...	OMIM:156500
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndactyly, Talipes equinovaru...	OMIM:134780
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Broad thumb, Mesome...	ORPHA:1507
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Patent duct...	OMIM:313850
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Microglossia, Long philtrum	OMIM:277720
Carpenter Syndrome 1	Transposition of the great arteries, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Paten...	OMIM:201000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short long bone, Short...	OMIM:615503
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd...	OMIM:265000
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Hypopl...	OMIM:608728
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Sprengel anomaly, Muscular ventricular septal defect, Pectus excavatum, Spina bifida occulta	OMIM:619227
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Facial palsy, Abnormal rib morphology	ORPHA:2790
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bilateral cleft palate, Patent ductus arteriosus, Bifid tongue	ORPHA:2001
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries	OMIM:617877
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy...	OMIM:601493
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo...	ORPHA:530
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Gorlin Syndrome	Abnormal rib morphology, Rib fusion, Cardiac fibroma, Arachnodactyly, Anterior rib cupping, Brach...	ORPHA:377
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert...	OMIM:253800
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Elevated circulating hepatic transaminase concentration, Myocardial...	OMIM:260400
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Rhizomelic Chondrodysplasia Punctata, Type 5	Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Sinus tachycar...	OMIM:616716
Feingold Syndrome Type 1	Tricuspid atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short middle phalanx of th...	ORPHA:391641
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furrowed tongue	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	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma...	ORPHA:3344
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Foot oligodactyly, Splenomegaly...	OMIM:616589
Scimitar Syndrome	Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena...	ORPHA:185
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Mmep Syndrome	Microphthalmia	ORPHA:3434
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Submucous cleft hard palate, Hypodontia, High, narrow palate, Glossoptosis	ORPHA:3201
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Tarsal synostosis, Muscular ventricular septal defect, Patent fo...	OMIM:157800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Ventricular septal def...	OMIM:617895
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondylocostal Dysostosis 5	Pectus carinatum, Supernumerary ribs, Posterior rib fusion, Missing ribs	OMIM:122600
Orofaciodigital Syndrome Iii	Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue	OMIM:258850
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
1P36 Deletion Syndrome	Annular pancreas, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Abnormal cardiac ...	ORPHA:1606
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormal thorax morphology, Abnormality of the gallbladder, Hypo...	ORPHA:280
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo...	OMIM:228520
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu...	ORPHA:1836
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Lethal Congenital Contracture Syndrome 10	Torticollis, Narrow chest, Short long bone, Femoral bowing, Hypoplasia of the thymus, Ventricular...	OMIM:617022
Cog1-Cdg	Rhizomelia, Talipes equinovarus, Short long bone, Flat acetabular roof, Posterior rib gap, Pulmon...	ORPHA:263508
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Orofaciodigital Syndrome Xix	Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro...	OMIM:620107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Bicuspid aortic valve, Atrioventricul...	ORPHA:1120
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Narrow chest, Halberd-shaped pelv...	ORPHA:2635
Robinow Syndrome	Pulmonary valve atresia, Atrial septal defect, Tricuspid atresia, Mesomelic arm shortening, Missi...	ORPHA:97360
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora...	OMIM:620076
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,...	ORPHA:2475
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:620269
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Accessory spleen, Short hallux, Split hand, Ventricular septal def...	OMIM:194190
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Pectus carinatum, Arachnodactyly, ...	OMIM:620568
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Narrow mouth, Microglossia	OMIM:227270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bifid ribs, Narrow chest, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Pe...	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	Difficulty in tongue movements, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Nar...	ORPHA:137888
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Kagami-Ogata Syndrome	Long clavicles, Hepatomegaly, Bell-shaped thorax, Thin ribs, Diastasis recti, Pulmonary arterial ...	OMIM:608149
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri...	ORPHA:2255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Hypomandibular Faciocranial Dysostosis	Aglossia, Pursed lips, Patent ductus arteriosus	OMIM:241310
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Orofaciodigital Syndrome Iv	High palate, Tongue nodules, Cleft palate, Lobulated tongue, Accessory oral frenulum, Hamartoma o...	OMIM:258860
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valve, Pulmonary insufficiency,...	OMIM:265380
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of the great arteries, ...	ORPHA:1780
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp...	OMIM:614524
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect, Abnormal rib morphology, Micromelia	ORPHA:2772
Baller-Gerold Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Anomalous splenoportal venous system, Patellar ...	OMIM:218600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Abnormal rib morphology, Abnormal cardi...	ORPHA:93941
Tetraamelia Syndrome 2	Cleft palate, Glossoptosis, Bilateral cleft lip, Ankyloglossia	OMIM:618021
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum	OMIM:613443
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co...	ORPHA:2484
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Congenital muscular torticollis, Abnormal rib morphology, Sprengel ...	ORPHA:2345
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,...	OMIM:617303
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	High palate, Glossoptosis, Pierre-Robin sequence, Open mouth, Thin upper lip vermilion	OMIM:613604
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal...	ORPHA:93356
Polysyndactyly With Cardiac Malformation	Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cyst...	OMIM:263630
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Low...	ORPHA:3035
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Short 4th metacar...	OMIM:618019
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of...	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	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of...	OMIM:148050
Lethal Faciocardiomelic Dysplasia	Narrow mouth, Patent ductus arteriosus, Microglossia	ORPHA:1972
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Cardiomyopathy, Mesomelia, Abnorma...	ORPHA:175
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Rhizomelia, Narrow chest, Severe limb shortening, Metaphyseal cupping, Hypoplastic pu...	OMIM:151210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Clinodactyly of the 5th finger, Tapered finger, Tapered toe	ORPHA:544488
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hypophosphatasia	Abnormal metaphysis morphology, Anemia, Narrow chest, Bowing of the long bones, Abnormal rib morp...	ORPHA:436
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposition of the great arter...	OMIM:612474
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Cleft palate, Delayed eruption of pri...	OMIM:616367
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T...	OMIM:211350
Zttk Syndrome	Aortic regurgitation, Rib fusion, Flexion contracture, Cervical ribs, Absent gallbladder, Atrial ...	OMIM:617140
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion	OMIM:612292
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Polycysti...	OMIM:208500
Joubert Syndrome 18	Cleft palate, Lobulated tongue	OMIM:614815
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Clark-Baraitser syndrome	Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi...	OMIM:300602
Microphthalmia, Syndromic 3	Missing ribs, Supernumerary ribs, Rib fusion, Ventricular septal defect, Hypogonadotropic hypogon...	OMIM:206900
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ...	OMIM:619598
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal hip bone morphology, Missi...	ORPHA:1488
Orofaciodigital Syndrome V	Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, H...	OMIM:174300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Phaver Syndrome	Triphalangeal thumb, Abnormal rib morphology, Broad thumb, Camptodactyly of finger, Short thumb, ...	ORPHA:2876
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy, Decreased fibular diameter, Limb unde...	OMIM:616897
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Grant Syndrome	Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp...	ORPHA:2097
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
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	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Bifid ribs, Narrow chest, Rib fusion	ORPHA:1394
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Internally rotated shoulders, Hepatic steatosis, Transposition of the great arteries...	OMIM:619503
Trisomy 8Q	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab...	ORPHA:1752
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly, Neutropenia	ORPHA:2643
Diamond-Blackfan Anemia 12	Triphalangeal thumb, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocy...	OMIM:615550
Aicardi Syndrome	Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblastoma, Hip dysplasia, Small hand	ORPHA:50
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost...	OMIM:187760
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Asymmetry of the thorax,...	ORPHA:2911
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Femoral...	ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant	Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno...	OMIM:307800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertens...	ORPHA:2519
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Narrow chest, Short long bone, Cholestasis, Bilia...	OMIM:620454
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Pectus excavatum, Abnormal rib morphology, Congenital ...	ORPHA:2970
Dextrocardia	Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormal rib morphology, Congenital ...	ORPHA:1666
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Epiphyseal dysplasi...	ORPHA:583
Greenberg Dysplasia	Short long bone, Short ribs, Short metacarpal, Bone marrow hypocellularity, Mesomelia, Thoracic h...	OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal...	OMIM:208540
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Clinodactyly of the 5th finger, Spina bifida occulta, Hyper...	ORPHA:52
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	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Hypoglossia-Hypodactylia	Aglossia, Narrow mouth, Microglossia	OMIM:103300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Atrial septal defect, Disproportionate shortening of the tibia, Postaxial ...	OMIM:263520
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal wide...	ORPHA:440354
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Abnormal diaphysis morphology, Elevated circulating hepatic tra...	ORPHA:73230
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Noncompaction...	OMIM:607872
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, ...	ORPHA:93317
Anauxetic Dysplasia 3	Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of finger, Metaphyseal cupping, ...	OMIM:618853
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia	ORPHA:2221
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Atrial septal defect, Narrow chest, Short greater sciatic notch, ...	ORPHA:1860
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cleft palate, Glossoptosis	OMIM:618356
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Thickened ribs	OMIM:252920
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Splenomegaly, Short finger, Short thorax, Patent foramen ovale, Shor...	OMIM:269860
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema, Edema	OMIM:178400
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Protruding tongue, Bifid uvula, Cleft palate, Patent ductus arteriosus, Al...	OMIM:612938
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology	ORPHA:276422
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Pontine Tegmental Cap Dysplasia	Facial palsy, Rib fusion	OMIM:614688
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Slender long bone, Hypoplasia of the musculature, Wide anteri...	OMIM:278250
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Achondrogenesis, Type Ia	Hypoplasia of the radius, Stillbirth, Bell-shaped thorax, Talipes equinovarus, Severe limb shorte...	OMIM:200600
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Recombinant Chromosome 8 Syndrome	Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri...	OMIM:179613
Agnathia-Otocephaly Complex	Aglossia, Cleft palate, Narrow mouth, Microglossia	OMIM:202650
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l...	OMIM:225500
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Bell-shaped thorax, Crumpled long bones, Thin ...	OMIM:166210
Mosaic Trisomy 14	Camptodactyly of finger, Narrow chest, Abnormal rib morphology	ORPHA:1703
Cofs Syndrome	Microphthalmia	ORPHA:1466
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2184
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl...	OMIM:618106
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Dental crowding, Exaggerated median tongue furrow	ORPHA:313892
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic...	OMIM:252600
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Melkersson-Rosenthal Syndrome	Cheilitis, Macroglossia, Furrowed tongue	ORPHA:2483
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Mucopolysaccharidosis, Type X	Genu valgum, Spatulate ribs, Aortic regurgitation, Broad clavicles, Irregular acetabular roof, Ao...	OMIM:619698
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1506
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a...	OMIM:280000
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblas...	OMIM:304050
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S...	OMIM:108720
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Esophageal atresia, Cleft soft palate	OMIM:614526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Bulgi...	OMIM:600081
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Abnormal diaphysis morphology, Angina pectoris, Abnor...	ORPHA:93473
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Pallister-Hall-Like Syndrome	Cleft palate, Median cleft upper lip, Microglossia	OMIM:241800
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula	ORPHA:1839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Arthrogryposis, Distal, Type 5D	Narrow mouth, Furrowed tongue, Cleft palate, Open mouth, Tongue atrophy	OMIM:615065
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Broad clavicle...	ORPHA:508542
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue	ORPHA:2167
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Orofaciodigital Syndrome Type 3	Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to...	ORPHA:2752
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Genu valgum, Short thorax, Abnormal heart valve morphology, Pectu...	ORPHA:582
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p...	ORPHA:3082
Hypomandibular Faciocranial Dysostosis	Narrow mouth, Bifid uvula, Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the tongue	ORPHA:1790
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi...	ORPHA:672
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi...	OMIM:600785
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Mullegama-Klein-Martinez Syndrome	Polydactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Facial palsy, Apica...	OMIM:301022
Mucopolysaccharidosis, Type Vi	Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Flared iliac wing, S...	OMIM:253200
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:200995
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Te...	ORPHA:2847
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio...	ORPHA:3304
Carey-Fineman-Ziter Syndrome	Thin vermilion border, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence, Long philt...	ORPHA:1358
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Genu valgum, Prominent sternum, Bilateral talipes equinovarus, Aortic valve stenosi...	OMIM:253010
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Asymmetry ...	OMIM:250250
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Facial palsy, Abn...	ORPHA:3068
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Abnormal sternum morphology, Split ha...	ORPHA:1335
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali...	OMIM:616331
Kaposiform Lymphangiomatosis	Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts	ORPHA:464329
Cronkhite-Canada Syndrome	Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp...	ORPHA:2930
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Orofaciodigital Syndrome Ii	High palate, Agenesis of central incisor, Cleft palate, Lobulated tongue, Accessory oral frenulum...	OMIM:252100
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ...	ORPHA:3426
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Short foot, Talipes equinovarus	ORPHA:93298
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormal metacarpal morphology, Hammertoe, Abnormal finger morphology, ...	ORPHA:2319
Seckel Syndrome 2	Microdontia, Microglossia	OMIM:606744
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Ankyloglossia, Enamel hypoplasia, Bilateral cleft lip, Thin ...	OMIM:618874
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol...	ORPHA:3242
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop...	OMIM:618022
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Abnormal rib morphology, Micromelia, Brachydactyly, Clubb...	ORPHA:1318
Distal Limb Deficiencies-Micrognathia Syndrome	Narrow mouth, High palate, Microdontia, Cleft palate, Microglossia	ORPHA:1307
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormality of the philtrum	ORPHA:2759
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate	OMIM:620183
Frontometaphyseal Dysplasia 1	Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increased density of long bone...	OMIM:305620
Cantú Syndrome	Abnormal metaphysis morphology, Cardiomegaly, Narrow chest, Short hallux, Finger syndactyly, Abno...	ORPHA:1517
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F...	OMIM:608940
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
Mulibrey Nanism	Dental crowding, Enamel hypoplasia, Microglossia, Hypodontia, Dental malocclusion	OMIM:253250
H Syndrome	Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis	ORPHA:168569
Lelis Syndrome	Hypodontia, Carious teeth, Furrowed tongue	ORPHA:140936
Robinow Syndrome, Autosomal Recessive 2	Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormality of the dentition, Long phil...	OMIM:618529
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Chime Syndrome	Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog...	ORPHA:3474
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Pectus excavatum, Abnormal rib morpho...	ORPHA:2522
Pierpont Syndrome	Microphthalmia	OMIM:602342
Cardiogenic Shock	Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive...	ORPHA:97292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Hypoglossia-Hypodactyly Syndrome	High palate, Narrow mouth, Anal atresia, Cleft palate, Hypodontia, Aplasia/Hypoplasia of the tong...	ORPHA:989
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ...	ORPHA:505248
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Ulnar bowing, Narrow chest, Wide anterior fontanel, Femoral bowing, Camptodac...	OMIM:207410
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cervical ribs, Ischemic stroke, Slender long bone, Transient ischemic attack, Arachnodactyly, Abn...	ORPHA:500150
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal hip bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1486
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Short ribs, Missing ribs, Rib fusion	OMIM:271520
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Trisomy 13	Narrow chest, Postaxial hand polydactyly, Ectrodactyly, Abnormal pelvic girdle bone morphology, A...	ORPHA:3378
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormal pelvic girdle bone morphology, Missing ribs, Abnormal r...	ORPHA:1834
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Subdural hemorrhage, Pectus excavatum, Bilateral ta...	OMIM:311900
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Asplenia, Hypoplastic spleen, Brachydactyly	OMIM:602361
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology	OMIM:602196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Patent foramen ovale, Camptodactyly, Neonatal de...	OMIM:256520
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Brachydactyly	ORPHA:2145
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate...	OMIM:618316
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr...	OMIM:220210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Trisomy 1Q	Congenital diaphragmatic hernia, Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodac...	ORPHA:261344
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b...	ORPHA:96334
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Abnormal clavi...	ORPHA:958
Van Den Ende-Gupta Syndrome	Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met...	OMIM:600920
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Anal atresia, Incomplete cleft of the upper lip, Cleft palate, Lobulated tongue, Nata...	OMIM:616300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Hartnup Disease	Glossitis, Gingivitis	ORPHA:2116
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro...	ORPHA:79328
Dysosteosclerosis	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches...	OMIM:224300
Restrictive Dermopathy	Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Arthrogrypos...	ORPHA:1662
Mandibuloacral Dysplasia	Hypoplasia of teeth, Dental crowding, High palate, Abnormal tongue morphology	ORPHA:2457
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Bruck Syndrome 2	Pectus carinatum, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion co...	OMIM:609220
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn...	ORPHA:477817
Cleidocranial Dysplasia	Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph...	ORPHA:1452
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, Tongue nodules, High palate, Talon cusp, Agenesis of centr...	ORPHA:2751
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Achondroplasia	Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Short ...	OMIM:100800
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi...	OMIM:200990
Melnick-Needles Syndrome	Stillbirth, Tricuspid valve prolapse, Genu valgum, Osteolytic defects of the phalanges of the han...	OMIM:309350
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Chapped lip, Oral leukoplakia	OMIM:615726
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ...	ORPHA:90652
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios...	OMIM:614976
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Basel-Vanagaite-Smirin-Yosef Syndrome	Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Cleft palate, Tented u...	OMIM:616449
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Broad t...	ORPHA:373
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Ritscher-Schinzel Syndrome 2	Short philtrum, High palate, Protruding tongue, Intestinal malrotation, Patent ductus arteriosus	OMIM:300963
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:98795
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F...	OMIM:617478
Vater/Vacterl Association	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu...	OMIM:192350
Cowden Syndrome 5	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula	OMIM:615108
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Glossoptosis, Cleft palate	ORPHA:1427
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Narrow chest, Bowing of th...	ORPHA:667
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Stomatitis, High palate, Tracheoesophageal fistula, Patent ductus arteriosus, Thin upp...	OMIM:277380
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve...	ORPHA:364577
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Short ribs, Cholestasis...	OMIM:613610
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Osteogenesis Imperfecta, Type X	Genu valgum, Fibular bowing, Rhizomelia, Narrow chest, Thin ribs, Tibial bowing, Bowing of the lo...	OMIM:613848
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Antley-Bixler Syndrome	Narrow chest, Femoral bowing, Abnormal rib morphology, Camptodactyly of finger, Arachnodactyly, N...	ORPHA:83
Developmental And Epileptic Encephalopathy 80	High palate, Protruding tongue, Wide mouth, Tented upper lip vermilion, Smooth philtrum, Long phi...	OMIM:618580
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Bicuspid aortic valve, S...	OMIM:218330
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Finger syndactyly, Abnormal rib morphology, Congenital hip dislo...	ORPHA:1647
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe...	OMIM:608670
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Cleft palate, Stomatitis	ORPHA:79284
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon...	ORPHA:2306
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Finger syndactyly, Abnormal rib ...	ORPHA:887
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Sprengel anomaly, Abnormal rib morphology, Abnormal limb bone mo...	OMIM:118100
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Orofaciodigital Syndrome I	Supernumerary tooth, High palate, Tongue nodules, Ankyloglossia, Agenesis of permanent teeth, Car...	OMIM:311200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Treacher-Collins Syndrome	Tessier cleft, Rectovaginal fistula, Abnormal dental enamel morphology, Open bite, High palate, G...	ORPHA:861
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Radial club hand, Ulnar bowing, Aplasia/Hypoplasia of the thumb, Short 2n...	ORPHA:2878
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis	OMIM:175500
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Cowden Syndrome 6	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula	OMIM:615109
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Pectus excavatum...	OMIM:304120
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Cleft palate, Glossoptosis	ORPHA:436003
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Atrioventricular canal defect, Narrow chest, Short clavicles, Short long bone, Post...	OMIM:617088
Robinow Syndrome, Autosomal Dominant 3	Triangular mouth, Dental malocclusion, Gingival overgrowth, Downturned corners of mouth, Cleft pa...	OMIM:616894
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology, Intracranial hemorrhage, Eosinophilia, He...	ORPHA:1163
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe...	OMIM:114290
Moebius Syndrome	High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Cleft palate, Open mouth, ...	ORPHA:570
Myhre Syndrome	Abnormal metaphysis morphology, Skeletal muscle hypertrophy, Hypertension, Large iliac wing, Abno...	ORPHA:2588
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Brachydactyly, Sprengel anomaly, Abnormal rib morphology, Sandal gap	ORPHA:2180
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Hypertension, Short metac...	ORPHA:95699
Kleefstra Syndrome 1	Everted lower lip vermilion, Protruding tongue, Persistence of primary teeth, Natal tooth, Macrog...	OMIM:610253
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Osteolytic defects of the phalanges of the hand, ...	OMIM:619127
Orofaciodigital Syndrome Type 6	High palate, Tongue nodules, Abnormal oral frenulum morphology, Midline notch of upper alveolar r...	ORPHA:2754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Short hard palate, High palate, Glossoptosis, Carious teeth, Cl...	OMIM:117650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	High palate, Furrowed tongue, Smooth philtrum, Diastema, Thin upper lip vermilion	OMIM:300534
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Transposition of the great arteries, Facial hypotonia, Cardiomyo...	OMIM:312870
Angelman Syndrome Due To A Point Mutation	Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:411511
Codas Syndrome	Genu valgum, Atrioventricular canal defect, Proximal placement of thumb, Delayed ossification of ...	OMIM:600373
Orofaciodigital Syndrome Vi	High palate, Tongue nodules, Incomplete cleft of the upper lip, Cleft upper lip, Cleft palate, Lo...	OMIM:277170
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Congenital muscular torticollis, Pectus excavatum, Abnormal rib morphology, He...	ORPHA:2215
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Protruding tongue	OMIM:242860
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Acrodermatitis Enteropathica	Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue	ORPHA:37
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial ha...	OMIM:269150
Icf Syndrome	Macroglossia, Protruding tongue	ORPHA:2268
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	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
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney	OMIM:615873
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gingival overgrowth, Wide mouth, Protruding tongue	OMIM:618797
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow mouth, Microglossia	ORPHA:990
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Patent ductus arteriosus, Protruding tongue	OMIM:230600
Ogden Syndrome	Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis	OMIM:300855
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Marshall-Smith Syndrome	Gingival overgrowth, Open mouth, Protruding tongue	ORPHA:561
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Hepatomegaly, Genu valgum, Cardiomegaly, Recurrent tonsillitis, Red...	ORPHA:581
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cohen Syndrome	High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the dentition, Tooth age...	ORPHA:193
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Ring Chromosome 22 Syndrome	Thick vermilion border, Protruding tongue	ORPHA:1446
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Dextrocardia, Pectus carinatum, Short metacarpal, Ca...	OMIM:616145
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:611134
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Raine Syndrome	Gingival overgrowth, High palate, Narrow mouth, Microdontia, Protruding tongue, Enamel hypoplasia...	OMIM:259775
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Branchial anomaly, Oligodontia, High palate, Furrowed tongue, Downturned corners of mouth, Cleft ...	ORPHA:453499
Congenital Disorder Of Glycosylation, Type Iia	Thin vermilion border, Gingival overgrowth, Everted lower lip vermilion, Protruding tongue, Wide ...	OMIM:212066
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Angelman Syndrome	Macroglossia, Wide mouth, Widely spaced teeth, Protruding tongue	OMIM:105830
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Ramos-Arroyo Syndrome	Aganglionic megacolon, Smooth tongue, Narrow mouth, Carious teeth, Patent ductus arteriosus, Long...	ORPHA:1051
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Neurodevelopmental Disorder With Variable Motor And Language Impairment	High palate, Everted lower lip vermilion, Protruding tongue, Smooth philtrum, Open mouth	OMIM:617804
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Thick vermilion border,...	OMIM:616078
X-Linked Agammaglobulinemia	Glossoptosis	ORPHA:47
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Tongue nodules,...	ORPHA:2750
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased fertility, Abnormal rib morphology	ORPHA:2234
X-Linked Hypophosphatemia	Genu valgum, Enlargement of the costochondral junction, Bowing of the long bones, Shortening of t...	ORPHA:89936
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis	ORPHA:2031
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Frontorhiny	Cleft palate, Bifid tongue	ORPHA:391474
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Narrow chest, ...	OMIM:200980
Cowden Syndrome 1	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula	OMIM:158350
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Azoospermia	ORPHA:2578
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele	ORPHA:370959
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long bones, Crumpled long ...	ORPHA:2050
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Orofaciodigital Syndrome Type 10	Long philtrum, Accessory oral frenulum, Cleft soft palate	ORPHA:2756
Rodrigues Blindness	Microphthalmia	OMIM:268320
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Slender long bone, Femoral retroversion, Wide anterior fontanel, Thin ribs, ...	OMIM:610915
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Patent ...	OMIM:300990
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia, Bifid sternum	ORPHA:63260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Carey-Fineman-Ziter Syndrome 1	High palate, Glossoptosis, Pierre-Robin sequence, Cleft palate, Microglossia	OMIM:254940
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Smooth philtrum, Cleft soft palate	ORPHA:293725
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Osteogenesis Imperfecta	Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radial head, Pectus carinatum...	ORPHA:666
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus	OMIM:614886
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Pectus excavatum, Abnorm...	ORPHA:800
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod...	ORPHA:85165
Alagille Syndrome 1	Hypoplasia of the ulna, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Short philtrum, Exaggerated cupid's bow, Furrowed tongue, Everted lower lip ...	ORPHA:464738
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Loeys-Dietz Syndrome 5	Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Cleft pa...	OMIM:615582
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy	OMIM:211530
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Encephalocele	ORPHA:228390
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent 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, Truncus arteriosus, Narrow mouth, Ankyloglossia, Pyloric stenosis, Cleft pal...	ORPHA:261330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
Temtamy Syndrome	Microphthalmia	OMIM:218340
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Amyotrophic Lateral Sclerosis	Xerostomia, Tongue atrophy	ORPHA:803
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Down Syndrome	Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, Abnormality of the...	ORPHA:870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:352665
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma...	ORPHA:158668
Pyknoachondrogenesis	Short iliac bones, Abnormal iliac wing morphology, Short thorax, Muscular edema, Short long bone,...	ORPHA:3003
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Pelvis-Shoulder Dysplasia	Thick anterior alveolar ridges, Cleft palate, Microglossia	ORPHA:2839
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Pagod Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal clavicle morphology, Abnormal r...	ORPHA:991
Hereditary Acrokeratotic Poikiloderma	Open bite, Gingival bleeding, Abnormality of the dentition, Ankyloglossia, Gingivitis, Narrow mou...	ORPHA:2907
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Rabson-Mendenhall Syndrome	Advanced eruption of teeth, Dental crowding, Gingival overgrowth, High palate, Furrowed tongue, A...	ORPHA:769
Moebius Syndrome	Microphthalmia	OMIM:157900
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Brachydactyly, ...	OMIM:619479
Spondylocarpotarsal Synostosis Syndrome	Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bowed humerus, Pectus car...	OMIM:272460
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:98794
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate, Patent ductus arteriosus	ORPHA:2282
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Frontofacionasal Dysplasia	Microphthalmia, Encephalocele	ORPHA:1791
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, Decreased muscle mass, Intrave...	OMIM:616507
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Cerebrocostomandibular Syndrome	Short hard palate, Cleft palate, Glossoptosis	ORPHA:1393
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Azoospermia	OMIM:601076
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Narrow chest, Abnormal rib morphology, Camptodactyly of finger, P...	ORPHA:96061
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Spondyloepiphyseal Dysplasia Congenita	Cleft palate, Glossoptosis	ORPHA:94068
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout...	ORPHA:2108
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
1Q21.1 Microdeletion Syndrome	Long philtrum, High palate, Ankyloglossia, Patent ductus arteriosus	ORPHA:250989
Al-Gazali Syndrome	Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist flexion con...	OMIM:609465
Trisomy 18	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Postaxial hand polydactyly, Abnorm...	ORPHA:3380
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Orofacial cleft, Triangular mouth, Delayed eruption of teeth, Short hard palate, D...	OMIM:180700
Au-Kline Syndrome	Oligodontia, High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, Open mouth, Den...	OMIM:616580
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Tarp Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence, Abnormal duodenum morphology, Tongue nodules, ...	ORPHA:2886
Intellectual Developmental Disorder, Autosomal Dominant 73	Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil...	OMIM:620450
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Thoracolumbar kyphosis, Epiphyseal stippling of...	ORPHA:56305
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Patent ductus art...	ORPHA:434179
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric...	ORPHA:371428
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Rhizomelia, Proximal placement o...	ORPHA:818
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Sternocleidomastoid amyotrophy...	ORPHA:488434
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Maternal Phenylketonuria	Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric...	ORPHA:2209
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ...	OMIM:615067
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Opitz Gbbb Syndrome	Hypodontia, Ectopic anus, High palate, Anal atresia, Tracheoesophageal fistula, Ankyloglossia, Cl...	ORPHA:2745
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Bowing of the...	ORPHA:249
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Down Syndrome	Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal...	OMIM:190685
Congenital Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93400
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ...	ORPHA:2326
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Limb-Mammary Syndrome	Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip	ORPHA:69085
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology	OMIM:154500
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa	OMIM:158310
Autosomal Dominant Robinow Syndrome	Supernumerary tooth, High, narrow palate, Short philtrum, Hypodontia, Oligodontia, Open bite, Gin...	ORPHA:3107
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Diastema, U-S...	OMIM:301040
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu...	OMIM:616652
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Arthrogryposis multiplex congenita, Pulmonic stenosis, Double outlet ri...	OMIM:301056
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyloglossia, Micro...	OMIM:619950
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, High palate, Protruding tongue, Patent ductus arteriosus, Macroglossia	OMIM:214100
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Kinsship Syndrome	Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Gingival overgrowth, Ankyloglossi...	OMIM:619297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Natal tooth, Pate...	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	Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Esophage...	ORPHA:89842
Refsum Disease	Microphthalmia	ORPHA:773
Proteus Syndrome	Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly	ORPHA:744
Agel Amyloidosis	Xerostomia, Tongue atrophy	ORPHA:85448
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Hypertension, Abnormal rib morph...	ORPHA:2769
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Severe periodontitis, Premature loss of teeth, Long upper lip, Gingival overgrowth...	ORPHA:99843
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Marshall-Smith Syndrome	Short mandibular rami, Short philtrum, Gingival overgrowth, Glossoptosis, High palate, Microdonti...	OMIM:602535
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, High palate, Furrowed tongue, Smooth philtrum, Patent ductus arteriosus, C...	OMIM:616975
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Congenital Disorder Of Glycosylation, Type Iie	Narrow mouth, Thick vermilion border, Smooth philtrum, Protruding tongue	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, High palate, Microdontia, Protruding tongue, Enamel hypoplasia, Tented upper...	OMIM:619777
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Pectus carinatum, Shor...	OMIM:303600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal rib morphology, Micromelia, Short palm, Brachydactyly	ORPHA:3015
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Distal Deletion 15Q	Short philtrum, Abnormality of the dentition, Cleft palate, Patent ductus arteriosus, Thin upper ...	ORPHA:1596
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Abnormal vena cava morphology, Mitral stenosis, Tetralogy of Fallot, Patent...	ORPHA:163956
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ...	ORPHA:3404
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Charge Syndrome	Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Absent radius, Bifid femur, Lymphope...	OMIM:214800
Giant Cell Arteritis	Glossitis	ORPHA:397
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Biliary tract abnormality, Short humerus, ...	OMIM:268300
Monosomy 9Q22.3	Polydactyly, Rhabdomyosarcoma, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma	ORPHA:77301
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
Joubert Syndrome 1	Triangular-shaped open mouth, Macroglossia, Protruding tongue	OMIM:213300
Adams-Oliver Syndrome	Microphthalmia, Encephalocele	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Angelman Syndrome	Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:72
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cousin Syndrome	Cleft palate, Alveolar ridge overgrowth, Microglossia	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 4th finger, Pulmonic stenosis, Contractu...	OMIM:618223
Distal Deletion 12Q	Supernumerary tooth, High, narrow palate, Esophageal atresia, Patent ductus arteriosus, Pyloric s...	ORPHA:96149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Cleft palate, Ankyloglossia	ORPHA:488642
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ...	OMIM:618164
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Tendon xanthomatosis, Premature arteriosclerosis, Premature coronary ...	ORPHA:391665
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology	ORPHA:1300
Stickler Syndrome	Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos...	ORPHA:828
Stuve-Wiedemann Syndrome 1	Smooth tongue, Thin vermilion border, Carious teeth, Pursed lips	OMIM:601559
Frontonasal Dysplasia 2	Microphthalmia, Encephalocele	OMIM:613451
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Anemia, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger...	ORPHA:2908
Meckel Syndrome, Type 1	Patent ductus arteriosus, Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Lo...	OMIM:249000
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79396
Okur-Chung Neurodevelopmental Syndrome	High palate, Thin upper lip vermilion, Protruding tongue	OMIM:617062
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	High palate, Glossoptosis, Downturned corners of mouth, Patent ductus arteriosus, Long philtrum, ...	ORPHA:444077
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Patent ductus arteriosus	OMIM:614557
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Vacterl With Hydrocephalus	Microphthalmia, Spina bifida, Anophthalmia	ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Joubert Syndrome 2	Microphthalmia, Encephalocele	OMIM:608091
Hardikar Syndrome	Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala...	OMIM:301068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Focal Dermal Hypoplasia	Umbilical hernia, Microphthalmia, Spina bifida, Hypoplasia of the iris	ORPHA:2092
Mosaic Trisomy 9	Microphthalmia, Spina bifida	ORPHA:99776
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Slender long bone, Abnormal rib morphology, Camptodactyly of fing...	ORPHA:2554
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Enamel hypoplasia, Cleft palate, Microglossia, Anteriorly placed anus	OMIM:151050
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Blomstrand Lethal Chondrodysplasia	Long philtrum, Natal tooth, Protruding tongue	ORPHA:50945
Cowden Syndrome	Colorectal polyposis, High palate, Furrowed tongue, Hamartomatous polyposis, Macroglossia	ORPHA:201
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Cleft soft palate	OMIM:619321
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
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Townes-Brocks Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal cardiac septum morphology, Absent t...	ORPHA:857
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue	ORPHA:564
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Aganglionic megacolon, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Fontaine Progeroid Syndrome	High, narrow palate, Oligodontia, Narrow mouth, Everted lower lip vermilion, Microdontia, Protrud...	OMIM:612289
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glossitis, Smooth philtrum, Stomatitis	ORPHA:79282
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Ankyloglossia, Carious teeth, Downturned corners of mouth, Bifid uvula, Natal tooth, Broad philtr...	OMIM:620186
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, High palate, Short upper lip, Hypoplastic philtrum, Protruding tongue,...	OMIM:309580
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Fryns Syndrome	Microphthalmia	ORPHA:2059
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism	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	Microphthalmia, Anophthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Kawasaki Disease	Glossitis, Cheilitis, Strawberry tongue, Lip fissure	ORPHA:2331
Charge Syndrome	Polydactyly, Abnormal aortic valve morphology, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:138
Yunis-Varon Syndrome	Thin vermilion border, High, narrow palate, Broad secondary alveolar ridge, Short philtrum, Gingi...	ORPHA:3472
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
Glucagonoma	Glossitis, Intestinal obstruction, Steatorrhea, Stomatitis	ORPHA:97280
Frank-Ter Haar Syndrome	Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double...	OMIM:249420
Monosomy 9P	Congenital diaphragmatic hernia, Proximal placement of thumb, Postaxial hand polydactyly, Abnorma...	ORPHA:261112
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Okamoto Syndrome	Anal stenosis, Open bite, Exaggerated median tongue furrow, Intestinal malrotation, Downturned co...	ORPHA:2729
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement...	OMIM:619472
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Microphthalmia, Syndromic 2	Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Contracture of the proximal inte...	OMIM:300166
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Fraser Syndrome	Orofacial cleft, Anal stenosis, Dental crowding, Ectopic anus, High palate, Anal atresia, Cleft u...	ORPHA:2052
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Broad alveolar ridges, Dental crowding, Intestin...	OMIM:270400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Spina bifida	ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Anemia, Azoospermia, Abnormal rib morphology, Thromb...	ORPHA:534
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Degcags Syndrome	High palate, Protruding tongue, Pyloric stenosis, Wide mouth, Thick vermilion border, Smooth phil...	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, Short philtrum, High palate, Ankyloglossia, Thick vermilion bor...	OMIM:619475
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, Narrow mouth, Ankyloglossia, Esophageal ulceration, Carious teeth, Erosion of oral ...	ORPHA:79408
Neuroocular Syndrome	Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,...	OMIM:619539
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate	ORPHA:268261
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Widely spaced teeth, Short philtrum, Ankyloglossia, Wide mouth, Smooth philt...	OMIM:619841
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Fanconi Anemia	Umbilical hernia, Microphthalmia, Aplasia/Hypoplasia of the iris, Spina bifida	ORPHA:84
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormality of the dentition	ORPHA:3206
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Hutchinson-Gilford Progeria Syndrome	Thin vermilion border, Delayed eruption of teeth, Dental crowding, Short lingual frenulum, High p...	ORPHA:740
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
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Microsporidiosis	Glossitis	ORPHA:2552
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris	OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Long philtrum, Bi...	ORPHA:93271
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
22Q11.2 Deletion Syndrome	Umbilical hernia, Meningocele, Microphthalmia, Spina bifida	ORPHA:567
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	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	Microphthalmia, Umbilical hernia	OMIM:613884
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia	OMIM:610829
Mend Syndrome	Microphthalmia	ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	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	Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis, Chapped lip	ORPHA:707
Fryns Syndrome	Microphthalmia	OMIM:229850
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia	OMIM:305600
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Microphthalmia, Syndromic 6	Bifid uvula, High palate, Cleft palate, Microglossia	OMIM:607932
Roberts Syndrome	Microphthalmia	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia	OMIM:619525
Mowat-Wilson Syndrome	Aganglionic megacolon, Cleft hard palate, Widely spaced teeth, Thick lower lip vermilion, Delayed...	ORPHA:2152
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cleft hard palate, Thick lower lip vermilion, Short philtrum, Delayed erup...	ORPHA:261537
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Cleft hard palate, Thick lower lip vermilion, Short philtrum, Delayed erup...	ORPHA:261552
Carney Complex	Esophageal neoplasm, Neoplasm of the stomach, Abnormal hard palate morphology, Neoplasm of the re...	ORPHA:1359
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia	OMIM:219000
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly	OMIM:236680
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Choreoacanthocytosis	Protruding tongue	ORPHA:2388
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Branchial cyst, Spina bifida occulta	ORPHA:508488
Norrie Disease	Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Branchiooculofacial Syndrome	Branchial anomaly, Microphthalmia, Anophthalmia	OMIM:113620
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr...	ORPHA:231160
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	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, Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	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.

No publications found that use IMPC mice or data for Tgfbr3.

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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

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Tgfbr3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data