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Gene: Tgfbr3 MGI:104637

Gene Summary

Name:

transforming growth factor, beta receptor III

Synonyms:

1110036H20Rik, TBRIII, 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
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	HOM	E15.5
embryonic growth retardation	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
pale liver	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta vasculature	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta morphology	Tgfbr3^em1(IMPC)Mbp	HET	E15.5
edema	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
abnormal liver size	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
enlarged kidney	Tgfbr3^em1(IMPC)Mbp	HET	Early adult
abnormal blood vessel morphology	Tgfbr3^em1(IMPC)Mbp	HOM	E15.5
preweaning lethality, complete penetrance	Tgfbr3^em1(IMPC)Mbp	HOM	Early adult
hemorrhage	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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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

40 Images

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Gross Morphology Embryo 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 (1060 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		Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	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	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r...	ORPHA:1354
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Muscular ventricular septal defect, Brachydactyly, Adducted thumb	OMIM:620062
Gombo Syndrome	Microphthalmia	OMIM:233270
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Edema, Intrauterine growth retardation	OMIM:189800
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Femoral-Facial Syndrome	Short femur, Cryptorchidism, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morp...	ORPHA:1988
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumer...	ORPHA:64755
Uvula, Bifid	Bifid uvula	OMIM:192100
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger	OMIM:609813
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Birk-Aharoni Syndrome	Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Clinodactyly...	ORPHA:3268
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Rhizomelia, Cryptorchidism, Thrombocytopenia, Squared iliac bones, Rib fusion...	OMIM:611209
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,...	OMIM:618804
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Overlapping toe, Left-to-right shunt, Endometriosis, Muscular ve...	ORPHA:363444
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri...	OMIM:618569
Auriculocondylar Syndrome 2A	Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:614669
Hartnup Disorder	Glossitis	OMIM:234500
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma...	ORPHA:2311
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Bilateral cryptorchidism, Microvesicular he...	ORPHA:66634
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophi...	ORPHA:251071
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Tapered finger, Pericardial effusion, Multiple muscular ventricular septal de...	OMIM:620070
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Sotos Syndrome	Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Long metacarpals, ...	OMIM:117550
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand poly...	OMIM:615630
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral b...	OMIM:210710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr...	ORPHA:93267
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ...	ORPHA:1926
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Short philtrum, B...	ORPHA:3241
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,...	OMIM:314390
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morphology, Hand polyda...	ORPHA:261197
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Alg12-Cdg	Elevated hepatic transaminase, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ve...	ORPHA:79324
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Missing ribs, Situs inversus totalis, Pectus excavatum, Short thorax, Rib fusion, B...	OMIM:613686
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa...	OMIM:134780
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Robinow Syndrome, Autosomal Recessive 1	Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Wid...	OMIM:268310
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Skeletal muscle atrophy, Camptodactyly of finger, Pectus excavatum, Cryptorchi...	ORPHA:2990
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand...	OMIM:146510
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Autosomal Recessive Robinow Syndrome	Pectus carinatum, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial sep...	ORPHA:1507
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E...	OMIM:313850
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavic...	OMIM:615503
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Hypoglossia With Situs Inversus	Microglossia, High palate, Hypodontia, Narrow mouth	OMIM:612776
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia	OMIM:277720
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Muscular ventricular septal defect, Spina bifida occulta, Sprengel anomaly	OMIM:619227
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Facial palsy, Diaphyseal thickening	ORPHA:2790
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,...	OMIM:157800
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Feingold Syndrome Type 1	Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short middle phalanx ...	ORPHA:391641
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly...	OMIM:616589
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr...	OMIM:616716
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arachno...	ORPHA:280
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone...	OMIM:615633
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea...	ORPHA:1606
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr...	ORPHA:168549
Robinow Syndrome	Syndactyly, Brachydactyly, Ventricular septal defect, Missing ribs, Bifid distal phalanx of the t...	ORPHA:97360
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R...	OMIM:228520
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morphology, Hypoplastic left ...	ORPHA:2772
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La...	OMIM:617895
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Torticollis...	OMIM:617022
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Wolf-Hirschhorn Syndrome	Accessory spleen, Rib segmentation abnormalities, Decreased muscle mass, Ventricular septal defec...	OMIM:194190
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Cog1-Cdg	Rhizomelia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Hepatosplenomegaly, ...	ORPHA:263508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis,...	ORPHA:2635
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragm...	ORPHA:1120
Amyloidosis, Familial Visceral	Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,...	ORPHA:2475
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, T...	OMIM:620076
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:620269
Hypomandibular Faciocranial Dysostosis	Pursed lips, Patent ductus arteriosus, Aglossia	OMIM:241310
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Narrow mouth	OMIM:227270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Pectus excavatum, Long fingers, Postaxi...	OMIM:213980
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Ventricular septal defect, Diastasis recti, Coxa valga, Splenomegal...	OMIM:608149
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Neonatal death, At...	OMIM:265380
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala...	ORPHA:137888
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora...	OMIM:608940
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Anomalo...	OMIM:218600
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Abn...	ORPHA:93941
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ...	OMIM:250220
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Kbg Syndrome	Syndactyly, Cryptorchidism, Rib fusion, Cutaneous syndactyly, Cervical ribs, Thoracic kyphosis, R...	OMIM:148050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
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	Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con...	ORPHA:2484
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Abnormal rib morphology, Abnormal sho...	ORPHA:2345
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth	OMIM:613604
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low...	ORPHA:93356
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal rib morphology, Abnormal fibula m...	ORPHA:3035
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Glycogen Storage Disease Iv	Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ...	OMIM:232500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Beaded ribs, Ca...	OMIM:616897
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, P...	ORPHA:2519
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 3	Ventricular septal defect, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusio...	OMIM:206900
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, ...	ORPHA:436
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus, Microglossia, Narrow mouth	ORPHA:1972
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicusp...	OMIM:612474
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Hepatic fibrosis, Narrow ...	OMIM:208500
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Flexion contracture, Rib fus...	OMIM:617140
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co...	ORPHA:1488
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Joubert Syndrome 18	Lobulated tongue, Cleft palate	OMIM:614815
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow ch...	ORPHA:175
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Abnormal...	ORPHA:2970
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r...	ORPHA:2876
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Cryp...	ORPHA:52
Grant Syndrome	Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:2097
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Flexion contracture, Knee ...	OMIM:619503
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Aicardi Syndrome	Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid ribs, Hepatoblastoma	ORPHA:50
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Macroglossia, B...	ORPHA:583
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Cr...	OMIM:225500
Wrinkly Skin Syndrome	Scapular winging, Congenital hip dislocation, Hypoplasia of the musculature, Pectus excavatum, Wi...	OMIM:278250
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale...	OMIM:607872
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th...	ORPHA:1666
Mosaic Trisomy 14	Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Cryptorchidism	ORPHA:1703
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Lateral clavicle hook, P...	OMIM:263520
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Greenberg Dysplasia	Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Neonatal dea...	OMIM:215140
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth, Cleft palate, Thin vermil...	OMIM:612938
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Abnormal thorax morphology, M...	ORPHA:73230
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Patent foramen ...	OMIM:269860
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology	ORPHA:276422
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis...	ORPHA:3082
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hip subluxation, Wide anterior ...	OMIM:618853
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Be...	OMIM:200600
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy	OMIM:614688
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Short metacarpal, Radial bowing, C...	OMIM:108720
Mucopolysaccharidosis, Type X	Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Bro...	OMIM:619698
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Congestive heart failure, Tibial bowing, Bell...	OMIM:166210
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange...	OMIM:615550
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Cleft palate, Narrow mouth	OMIM:202650
Seckel Syndrome 2	Microdontia, Microglossia	OMIM:606744
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Crypto...	ORPHA:672
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Pallister-Hall-Like Syndrome	Microglossia, Median cleft lip, Cleft palate	OMIM:241800
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Narrow palate	ORPHA:313892
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblas...	OMIM:304050
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyl...	OMIM:280000
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ...	ORPHA:2930
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:600081
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg...	OMIM:186500
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Hurler Syndrome	Hepatomegaly, Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of fin...	ORPHA:93473
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl...	OMIM:271640
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:1790
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Hypoplastic left heart, Apical muscul...	OMIM:301022
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili...	ORPHA:1358
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Renpenning Syndrome	Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Cl...	ORPHA:3242
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo...	OMIM:600785
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u...	ORPHA:2752
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Tricuspid regurgitation, Thrombocy...	ORPHA:508542
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Cryptorchidism, Flared m...	OMIM:602471
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Short thorax, Abnormal rib...	ORPHA:582
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Thickened ribs, Asymmetric septal hypertrophy	OMIM:252900
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph...	ORPHA:3068
Achondrogenesis Type 1B	Micromelia, Short thorax, Abnormal rib morphology, Short foot, Talipes equinovarus, Narrow chest	ORPHA:93298
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane...	OMIM:250250
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Pointed proximal second through fifth metacarpals, Coxa valga, Epiphyseal deformiti...	OMIM:253010
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Distal Limb Deficiencies-Micrognathia Syndrome	Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia	ORPHA:1307
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Trisomy 13	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, A...	ORPHA:3378
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas...	ORPHA:1318
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Mulibrey Nanism	Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia	OMIM:253250
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris...	OMIM:305620
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Abnormal hip bone morpho...	ORPHA:2522
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Lateral clavicle hook, Complete atrioventricular canal...	OMIM:617925
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Congenital di...	ORPHA:261344
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ...	ORPHA:989
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormal rib morphology, Abnormal hip bone morphology, Skeletal muscle atrophy	ORPHA:1486
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Missing ribs, Abnormality of the spleen, Abnormal rib morphology...	ORPHA:1834
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Transient ischemic attack, Absent thumb, Rib fusion, Abnormal...	ORPHA:500150
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Subdural h...	OMIM:311900
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly	OMIM:602361
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, H...	ORPHA:96334
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter...	OMIM:256520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog...	OMIM:618874
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn...	OMIM:600920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co...	ORPHA:958
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m...	OMIM:618529
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Cleft palate, Incomplete c...	OMIM:616300
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Sand...	OMIM:607323
Dysosteosclerosis	Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flared metaphysis, Short diaphyses, Short...	OMIM:224300
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Atrial septal d...	ORPHA:373
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H...	ORPHA:79328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc...	ORPHA:1662
Mandibuloacral Dysplasia	High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth	ORPHA:2457
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl...	ORPHA:79259
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Bruck Syndrome 2	Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus carinatum, Knee flexion co...	OMIM:609220
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal...	ORPHA:1452
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt...	ORPHA:90652
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Vacterl/Vater Association	Finger syndactyly, Congenital diaphragmatic hernia, Abnormality of the pancreas, Preaxial hand po...	ORPHA:887
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Transpo...	OMIM:614976
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Flared metaphysis, Hip disloca...	OMIM:309350
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm...	ORPHA:667
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, High palate, Short philtrum	OMIM:300963
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis	OMIM:175500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Stoma...	OMIM:277380
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615108
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi...	OMIM:618580
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Cranioectodermal Dysplasia 2	Cholangitis, Narrow chest, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Syndactyly, ...	OMIM:613610
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N...	OMIM:304120
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Hepatic fibrosis, Narrow chest, Hepatomegaly, Rhizomelia, Malformation of ...	OMIM:218330
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve...	ORPHA:570
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615109
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo...	OMIM:311200
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Protruding tongue	OMIM:242860
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse...	OMIM:600373
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp...	ORPHA:2215
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Myhre Syndrome	Brachydactyly, Cryptorchidism, Abnormal rib morphology, Skeletal muscle hypertrophy, Hypertension...	ORPHA:2588
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphy...	OMIM:617088
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Patent ductus arteriosus, Dental malocclusion, Gingival overgrowth, Cleft palate, Agen...	OMIM:616894
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly	ORPHA:2180
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Icf Syndrome	Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,...	OMIM:114290
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,...	OMIM:619127
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver...	OMIM:610253
Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Bifid uvula, Cleft palate	ORPHA:1427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Short metacarpal, Abnormal metacarpal epiphysi...	ORPHA:95699
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor...	ORPHA:2754
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Patent ductus arteriosus, Pierre-Robi...	OMIM:117650
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip...	ORPHA:861
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa...	OMIM:312870
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum	OMIM:300534
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Long clavicles, Increased density of long bones, Wide distal femoral metaph...	OMIM:269150
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Aspergillosis	Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormal long bone morphology, Intracranial hem...	ORPHA:1163
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc...	OMIM:276820
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna	OMIM:615873
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Protruding tongue, Gingival overgrowth, Narrow mouth	OMIM:230600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Narrow mouth	ORPHA:990
Marshall-Smith Syndrome	Open mouth, Gingival overgrowth, Protruding tongue	ORPHA:561
X-Linked Agammaglobulinemia	Glossoptosis, Malabsorption	ORPHA:47
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased fertility, Hypogonadism, Abnormal rib morphology, Decreased testicular size	ORPHA:2234
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,...	ORPHA:193
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum	OMIM:617804
Meckel Syndrome, Type 4	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,...	OMIM:212066
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Ring Chromosome 22 Syndrome	Thick vermilion border, Protruding tongue	ORPHA:1446
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ...	ORPHA:453499
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na...	OMIM:616078
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow...	ORPHA:1051
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Raine Syndrome	Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Neona...	OMIM:259775
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis	ORPHA:2031
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal clavicle morphology, Cardiomegaly, Avascular necrosis of the capital femor...	ORPHA:581
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abno...	ORPHA:800
Frontorhiny	Bifid tongue, Cleft palate	ORPHA:391474
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem...	ORPHA:89936
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:158350
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology	ORPHA:2578
Pagod Syndrome	Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia, Situs invers...	ORPHA:991
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Rodrigues Blindness	Microphthalmia	OMIM:268320
Mosaic Trisomy 8	Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Narrow pelvis...	ORPHA:96061
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Pectus car...	ORPHA:666
Craniorachischisis	Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia	ORPHA:63260
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Tongue fasciculations	OMIM:211530
Alagille Syndrome 1	Elevated hepatic transaminase, Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular ...	OMIM:118450
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia	OMIM:254940
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibula...	ORPHA:85165
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Patent d...	OMIM:300990
Cole-Carpenter Syndrome	Crumpled long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long ...	ORPHA:2050
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ...	ORPHA:464738
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 18P	Microphthalmia	ORPHA:1598
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Branchial fistula, High, narrow palate, Pyloric stenosis, Cleft palate,...	ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:453504
Native American Myopathy	Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula	ORPHA:168572
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:352665
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Temtamy Syndrome	Microphthalmia	OMIM:218340
Pelvis-Shoulder Dysplasia	Thick anterior alveolar ridges, Microglossia, Cleft palate	ORPHA:2839
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidi...	ORPHA:3380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98794
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Hereditary Acrokeratotic Poikiloderma	Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Gingivitis,...	ORPHA:2907
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,...	OMIM:619479
Moebius Syndrome	Microphthalmia	OMIM:157900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Cerebrocostomandibular Syndrome	Glossoptosis, Short hard palate, Cleft palate	ORPHA:1393
Osteogenesis Imperfecta, Type Xvii	Decreased muscle mass, Bowed humerus, Intraventricular hemorrhage, Hip dislocation, Thin long bon...	OMIM:616507
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Cleft palate	ORPHA:94068
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Patent ductus arteriosus, Cleft soft palate	ORPHA:2282
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Au-Kline Syndrome	Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Open mo...	OMIM:616580
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Ankyloglossia, High palate, Long philtrum	ORPHA:250989
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Congenital...	ORPHA:818
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Tarp Syndrome	Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m...	ORPHA:2886
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Patent ductus arteriosus, Apla...	ORPHA:434179
Omodysplasia 1	Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Cryptorchidism,...	OMIM:258315
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Abnormal rib morphology, Short foot, Spina bifida occ...	ORPHA:488434
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Maternal Phenylketonuria	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear...	ORPHA:2209
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Pat...	OMIM:190685
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At...	ORPHA:371428
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala...	OMIM:609465
Opitz Gbbb Syndrome	Natal tooth, Cleft lip, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Ectopi...	ORPHA:2745
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele	OMIM:614424
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr...	OMIM:616652
Congenital Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93400
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,...	OMIM:301040
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth	OMIM:154500
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Orofaciodigital Syndrome Xiv	Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Patent ductus arteriosus, Aplas...	OMIM:615948
Peroxisome Biogenesis Disorder 1A (Zellweger)	Protruding tongue, High, narrow palate, Patent ductus arteriosus, Macroglossia, High palate	OMIM:214100
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula	ORPHA:69085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Arthrogryposis multiplex ...	OMIM:301056
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum...	ORPHA:3107
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy	ORPHA:101085
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Kinsship Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m...	OMIM:619297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Hypertension, Aplasia/hypo...	ORPHA:2769
Refsum Disease	Microphthalmia	ORPHA:773
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Cryptorchidism, Humeroradial synostosis, Abnormal rib morphology...	ORPHA:3404
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs	ORPHA:3301
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro...	ORPHA:99843
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Patent ductus arteriosus, Furrowed tongue, High palate, Broad alveolar ridges, Smooth ...	OMIM:616975
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss...	ORPHA:89842
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations	ORPHA:99949
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist flexion contra...	OMIM:268300
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth	OMIM:608779
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Pyloric stenosis, Patent ductus arteriosus, Gingival overgrowth, A...	OMIM:602535
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Abnormal rib morphology	ORPHA:1300
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Pectus excavatum, Coxa...	OMIM:303600
Radio-Renal Syndrome	Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Short palm, Brachydactyly	ORPHA:3015
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena...	OMIM:619777
Charge Syndrome	Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Aplasia/Hypoplasia of the ...	OMIM:214800
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Cleft palate, S...	ORPHA:1596
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Giant Cell Arteritis	Glossitis	ORPHA:397
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Monosomy 9Q22.3	Rhabdomyosarcoma, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Polydactyly	ORPHA:77301
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Angelman Syndrome	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:72
Cousin Syndrome	Microglossia, Alveolar ridge overgrowth, Cleft palate	OMIM:260660
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Distal Deletion 12Q	Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyloric stenosis,...	ORPHA:96149
Joubert Syndrome 1	Macroglossia, Triangular-shaped open mouth, Protruding tongue	OMIM:213300
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Ankyloglossia, Cleft palate	ORPHA:488642
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe...	ORPHA:391665
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, High palate, Protruding tongue	OMIM:617062
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ...	OMIM:249000
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog...	ORPHA:828
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Cryptorchidism, Patellar aplasia, Abnormal rib morpho...	ORPHA:2554
Stuve-Wiedemann Syndrome 1	Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue	OMIM:601559
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Anemia,...	ORPHA:2908
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Downturned corners of mouth, Glossoptosis, Ma...	ORPHA:444077
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Cleft soft palate	OMIM:614557
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida	ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Preaxial hand polydact...	ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Mosaic Trisomy 9	Microphthalmia, Spina bifida	ORPHA:99776
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia	OMIM:151050
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate	ORPHA:201
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Protruding tongue	ORPHA:50945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum	OMIM:619321
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Patent ductus arteriosus, Esophageal v...	OMIM:301068
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue	ORPHA:564
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis	ORPHA:653
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Protruding tongue, High, narrow palate, Patent ductus arteriosus, Anter...	OMIM:612289
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Monosomy 9P	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Cr...	ORPHA:261112
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth...	OMIM:620186
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th...	OMIM:309580
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy	ORPHA:466768
Charge Syndrome	Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Abnormal tibia morphology, Abnormal ...	ORPHA:138
Fryns Syndrome	Microphthalmia	ORPHA:2059
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Fraser Syndrome	Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an...	ORPHA:2052
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st...	ORPHA:3472
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, Patent ductus a...	OMIM:270400
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Abnormal rib morphology, Hip dislocation, Genu valgum, Anemia, Azoospermia, Abnor...	ORPHA:534
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, Short philtrum, High ...	OMIM:619475
Degcags Syndrome	Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Patent ductus arteriosus, Wi...	OMIM:619488
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Chilton-Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Agenesis of incisor, Wide mouth, Widely space...	OMIM:619841
Neuroocular Syndrome	Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus...	OMIM:619539
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos	ORPHA:33364
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Esophag...	ORPHA:79408
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate	ORPHA:268261
Bilateral Perisylvian Polymicrogyria	Protruding tongue	ORPHA:98889
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormality of the dentition	ORPHA:3206
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Microsporidiosis	Glossitis	ORPHA:2552
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:84
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
22Q11.2 Deletion Syndrome	Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:567
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
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
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia	ORPHA:93271
Mend Syndrome	Microphthalmia	ORPHA:401973
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Fryns Syndrome	Microphthalmia	OMIM:229850
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 6	Microglossia, High palate, Bifid uvula, Cleft palate	OMIM:607932
Plague	Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis	ORPHA:707
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Cockayne Syndrome	Microphthalmia	ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia	OMIM:619525
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly	OMIM:236680
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia	ORPHA:508488
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Choreoacanthocytosis	Protruding tongue	ORPHA:2388
Branchiooculofacial Syndrome	Microphthalmia, Branchial anomaly, Anophthalmia	OMIM:113620
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Doors Syndrome	Double outlet right ventricle	ORPHA:79500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	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.

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

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

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tgfbr3 MGI:104637

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

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 20.1 Data