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Gene: Tcf7l1 MGI:1202876

Gene Summary

Name:

transcription factor 7 like 1 (T cell specific, HMG box)

Synonyms:

Tcf3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating creatine kinase level	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.38×10^-11
abnormal vibrissa morphology	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.73×10^-05
decreased circulating HDL cholesterol level	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.30×10^-05
abnormal snout morphology	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.38×10^-05
abnormal cornea morphology	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.02×10^-05
increased leukocyte cell number	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.66×10^-05
corneal opacity	Tcf7l1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.15×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	50% (1 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	50% (1 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	50% (1 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Tcf7l1^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

View all 197 images

Tcf7l1^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, abnormal pupil morphology, HET, Female, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, synechia, cornea/lens fusion, HET, Female, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
corneal vascularization, HET, Female, WTSI

Tcf7l1^{tm1a(EUCOMM)Wtsi}
eye, corneal ulcer, corneal opacity, HET, Male, WTSI

View all 10 images

Tcf7l1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Tcf7l1 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 Tcf7l1 (0 diseases)
Human diseases predicted to be associated with Tcf7l1 (623 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tcf7l1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Infantile Sialic Acid Storage Disease	Epicanthus, Premature birth, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Death in c...	OMIM:269920
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Micromelia, Squared iliac bones, Flared metaphysi...	OMIM:215045
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Almond-shaped palpebral fissure, Frontal encephalocele, Abnormality of t...	ORPHA:521308
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Micromelia, Breech presentation, Hypoplastic ilia, Hydrops fetalis, Stillb...	OMIM:600972
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios...	ORPHA:1263
Fetal Gaucher Disease	Decreased fetal movement, Death in infancy, Fetal akinesia sequence, Hydrops fetalis, Intracrania...	ORPHA:85212
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Galactosialidosis	Corneal opacity	ORPHA:351
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
Morquio Syndrome C	Corneal opacity	OMIM:252300
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Short...	ORPHA:2756
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna	OMIM:276822
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	ORPHA:60041
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Oligodacty...	OMIM:251230
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis	ORPHA:295
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Cenani-Lenz Syndrome	Ptosis, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation,...	ORPHA:3258
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restricti...	OMIM:619433
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, H...	ORPHA:1865
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, ...	OMIM:618815
Developmental And Epileptic Encephalopathy 96	Death in infancy, Hydrops fetalis	OMIM:619340
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Absent eyebrow, Palpebral edema, Predominantly lower limb lymphedema, Abs...	ORPHA:69735
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Ethanolaminosis	Cardiomegaly	OMIM:227150
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morph...	ORPHA:85166
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Epicanthus, Brachydactyly, Bowing of the long bones, Hypoplastic scapulae, Micromelia...	OMIM:614091
Indomethacin Embryofetopathy	Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios	ORPHA:1909
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Flared me...	OMIM:616897
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Upslanted palpebral fissure, Hypertension, Short foot, Clinodactyly of ...	OMIM:619758
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Talipes equi...	ORPHA:93298
Achondrogenesis Type 1A	Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Short palm, ...	ORPHA:93299
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Epicanthus, Atrial flutter, Telecanthus, Lymphedema, Hydrops fetalis, Upslanted palpebral fissure...	OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension	OMIM:619003
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Left v...	OMIM:618052
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla...	ORPHA:1041
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advan...	OMIM:269250
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Death in infancy	OMIM:608540
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Achondrogenesis	Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Umbilical hernia	ORPHA:932
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Corneal opacity	ORPHA:2370
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Joubert Syndrome 15	Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Cu...	OMIM:617667
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Hydrops fetalis, Polyhydramnios, Ptosis	OMIM:255320
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Ichthyosis, Congenital, Autosomal Recessive 4B	Death in infancy, Premature birth, Short finger, Neonatal death, Ectropion	OMIM:242500
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st...	ORPHA:2414
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Gómez-López-Hernández Syndrome	Alopecia of scalp, Corneal opacity	ORPHA:1532
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart...	ORPHA:90308
Achondrogenesis, Type Ii	Broad long bones, Polyhydramnios, Edema, Short tubular bones of the hand, Hydrops fetalis, Short ...	OMIM:200610
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr...	ORPHA:163596
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyl...	ORPHA:261344
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly	OMIM:172880
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, ...	OMIM:265000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Sialidosis Type 2	Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema	ORPHA:87876
Mulibrey Nanism	Single transverse palmar crease, Thickened cortex of long bones, Congestive heart failure, Hydrop...	OMIM:253250
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Pterygium, Short phalanx of f...	OMIM:263650
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
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
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping finge...	OMIM:616738
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:616834
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Polyhydramnios, Bowing of the legs,...	OMIM:200600
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Lethal Congenital Contracture Syndrome 10	Fetal akinesia sequence, Adducted thumb, Hydrops fetalis, Femoral bowing, Short long bone, Talipe...	OMIM:617022
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Greenberg Dysplasia	Polyhydramnios, Micromelia, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calcaneus, Neonat...	OMIM:215140
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyop...	OMIM:232500
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Fetal akinesia sequence, Wrist flexion contracture, Elbow ankylosis, Ulnar deviat...	OMIM:208150
Trisomy 13	Abnormal eyelash morphology, Postaxial hand polydactyly, Hydrops fetalis, Abnormal pelvic girdle ...	ORPHA:3378
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas...	ORPHA:1307
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Generalized hirsutism	ORPHA:317
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Campomelia, Cumming Type	Death in infancy, Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetali...	ORPHA:1318
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Brachydactyly, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous sy...	OMIM:236500
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, ...	OMIM:607823
Diffuse Neonatal Hemangiomatosis	Ascites, Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Alg8-Cdg	Brachydactyly, Premature birth, Edema, Hydrops fetalis, Talipes equinovarus, Camptodactyly, Ascit...	ORPHA:79325
Mosaic Trisomy 9	Rocker bottom foot, Polyhydramnios, Micromelia, Camptodactyly of finger, Elbow dislocation, Spina...	ORPHA:99776
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardi...	OMIM:620167
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo...	ORPHA:2879
Mucopolysaccharidosis, Type Vii	Epicanthus, Metatarsus adductus, Hydrocephalus, Hydrops fetalis, Genu valgum, Cardiomyopathy, Nar...	OMIM:253220
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri...	ORPHA:292
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly, Oligohydramnios	ORPHA:3016
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Congestive hea...	OMIM:166210
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Congestive heart failure, Death in adolescence, Short long bone, Stillb...	OMIM:619751
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Low anterior hairline, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Transaldolase Deficiency	Hydrops fetalis, Edema, Telangiectasia	ORPHA:101028
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Neuraminidase Deficiency	Facial edema, Hydrops fetalis, Cardiomyopathy, Epiphyseal stippling, Ascites	OMIM:256550
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Xanthelasma, Abnormal LDL cholesterol concentration	OMIM:603776
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Blomstrand Lethal Chondrodysplasia	Telecanthus, Short metacarpal, Premature birth, Rhizomelia, Polyhydramnios, Bowing of the long bo...	ORPHA:50945
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Epicanthus, Sparse eyelashes, Palpebral edema, Nonimmune hydrops fetalis, Lymphed...	OMIM:137940
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Epicanthus, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Hypop...	OMIM:235510
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Neural tube defect, Euryblepharo...	OMIM:119580
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Micromelia, Postaxial polydactyly, Aplastic clavicle, Hydrocephalus, Preaxial pol...	OMIM:616546
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death	OMIM:618839
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio...	OMIM:618835
Hemochromatosis, Neonatal	Abnormal bleeding, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Lymphatic Malformation 6	Epicanthus, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphe...	OMIM:616843
Harel-Yoon Syndrome	Short nose, Corneal opacity, Developmental cataract	OMIM:617183
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity, Generalized hirsutism	ORPHA:93476
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Thick eyebrow	OMIM:602562
Mucopolysaccharidosis Type 7	Lymphedema, Metatarsus adductus, Hydrops fetalis, Epiphyseal stippling, Abnormal hip bone morphol...	ORPHA:584
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Fibular a...	OMIM:165590
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, E...	ORPHA:2211
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose	ORPHA:2557
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Congenital Rubella Syndrome	Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia	ORPHA:290
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn...	ORPHA:3472
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Free Sialic Acid Storage Disease	Ascites, Abnormality of the upper limb, Hydrops fetalis	ORPHA:834
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Hydrops fetalis, Eyelid coloboma, Foot polydactyly, Chorioretinal coloboma, Short ...	ORPHA:268249
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Atrichia, Nail dystrophy	ORPHA:1867
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Wide nasal bridge, H...	ORPHA:3163
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Farber Disease	Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetalis, Joint swelling, Ab...	ORPHA:333
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelash morphology, Wide nasal bridge, Sparse or absent eyelashes, Apla...	ORPHA:1794
Lymphedema-Distichiasis Syndrome	Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Conjunctiviti...	OMIM:153400
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Scapular winging, Hip contracture, Tapered toe, Nonimmune hydrops fetal...	OMIM:620369
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Mgat2-Cdg	Abnormal bleeding, Hydrops fetalis, Long eyelashes, Reflex asystolic syncope, Arrhythmia, Downsla...	ORPHA:79329
Cranioectodermal Dysplasia 2	Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Sparse eyelashes, Rhizomelia, Polyhydramn...	OMIM:613610
Gm1 Gangliosidosis	Premature birth, Camptodactyly of finger, Congestive heart failure, Hydrops fetalis, Cardiomyopat...	ORPHA:354
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Corneal opacity	OMIM:618961
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Limb-Mammary Syndrome	Absent lacrimal punctum, Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey...	ORPHA:69085
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow, Wide nasal bridge, Developmental cataract, Hypocholesterolemia	OMIM:618810
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypertension, Second degree atrioventricul...	OMIM:617021
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Hydrops fetalis, Polyhydramnios	ORPHA:3405
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Popliteal pterygium, Sparse or absent eyelashes, Short nose, A...	ORPHA:1234
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Nonimmune hydrops fetalis, Brachydactyly	OMIM:618265
Olmsted Syndrome 1	Corneal opacity, Nail dystrophy, Opacification of the corneal stroma, Sparse hair, Alopecia unive...	OMIM:614594
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Hydrocephalus, Cardiomegaly	ORPHA:858
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Alg9-Cdg	Thickened nuchal skin fold, Decreased fetal movement, Telecanthus, Tricuspid regurgitation, Ulnar...	ORPHA:79328
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Cardiomyopathy, Abnormal placenta morphology, Flared iliac wing, Short long bone...	ORPHA:79255
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypo...	ORPHA:31150
Rodrigues Blindness	Microcornea, Sparse hair, Sclerocornea, Fine hair	OMIM:268320
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Fetal akinesia sequence, Congesti...	ORPHA:367
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Mitral regurgitation, Single u...	OMIM:620244
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites	OMIM:617049
Arthrogryposis Multiplex Congenita 6	Decreased fetal movement, Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, A...	OMIM:619334
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Synophrys, Clinodactyly of the 5th finger, Bilateral sin...	ORPHA:199
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity	ORPHA:61
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Cataract, Corneal opacity	ORPHA:496790
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Desquamatio...	OMIM:608013
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity, Wide nasal bridge	ORPHA:812
Scheie Syndrome	Corneal opacity	OMIM:607016
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp...	ORPHA:1806
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Almond-shaped palpebral fissure...	OMIM:212065
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Gm1-Gangliosidosis, Type I	Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Hypertrophic...	OMIM:230500
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl...	OMIM:609015
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O...	ORPHA:425
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Epicanthus, Radial deviation of the hand, Short hume...	OMIM:218600
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Cardiomegaly	OMIM:300886
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis	OMIM:256540
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy...	OMIM:216340
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia...	OMIM:301056
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, ...	OMIM:263520
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Hennekam Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops...	ORPHA:2136
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart...	ORPHA:137667
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus	OMIM:143890
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly	OMIM:601357
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing...	ORPHA:335
Pallister-Hall Syndrome	Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ...	ORPHA:672
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentati...	OMIM:300868
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis	ORPHA:88618
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Generalized hypertrichosis, Megalocornea, Short nose	ORPHA:2409
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn...	ORPHA:1830
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Walker-Warburg Syndrome	Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ...	ORPHA:899
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick eyebrow	ORPHA:585
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho...	OMIM:618156
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage,...	ORPHA:79282
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opaci...	OMIM:256800
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Juvenile Sialidosis Type 2	Hepatosplenomegaly, Cataract, Corneal opacity, Generalized hypertrichosis	ORPHA:93399
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Short nose, Anemia, Iris hy...	ORPHA:2719
Cystinosis	Hypokalemia, Corneal opacity, Hypophosphatemia	ORPHA:213
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity, Thick hair	ORPHA:357058
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Zellweger Syndrome	Cataract, Corneal opacity, Brushfield spots, Wide nasal bridge, Posterior embryotoxon	ORPHA:912
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hydrops fetalis	OMIM:224120
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Generalized hypertrichosis	ORPHA:93400
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Hepatoerythropoietic Porphyria	Abnormal bleeding, Nonimmune hydrops fetalis, Edema, Loss of eyelashes, Keratoconjunctivitis, Seb...	ORPHA:95159
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Abnormal pelvis bone morphology, Abnormal nasolacrimal system morphology, Camptod...	ORPHA:2273
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Increased circulating cortisol level, Opacification of the corneal stroma	ORPHA:3453
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Conjunctiva...	ORPHA:2399
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Aqueductal stenosis, Absent lower eyelas...	OMIM:154400
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity, Hirsutism	OMIM:607015
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93474
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia	OMIM:607765
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Alopecia, Corneal opacity	OMIM:163200
Schimke Immunoosseous Dysplasia	Pancytopenia, Thrombocytopenia, Wide nasal bridge, Fine hair, Abnormal T cell morphology, Coarse ...	OMIM:242900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Oculocerebrocutaneous Syndrome	Alopecia, Corneal opacity, Iris coloboma	ORPHA:1647
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Nonimmune hydrops fetalis	OMIM:619313
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly	OMIM:149000
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Wide nasal bridge, Aniridia, Iris coloboma	ORPHA:251038
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Wide nasal bridge, Microcornea, Peters anomaly, Iris co...	OMIM:243605
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Wide nasal bridge, Anterior chamber synechiae	OMIM:601499
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism	ORPHA:2095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis	ORPHA:1764
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Hurler Syndrome	Corneal opacity, Splenomegaly, Wide nasal bridge, Hepatosplenomegaly, Opacification of the cornea...	OMIM:607014
Diamond-Blackfan Anemia	Epicanthus, Nonimmune hydrops fetalis, Absent thumb, Short thumb, Partial duplication of thumb ph...	ORPHA:124
Neu-Laxova Syndrome 1	Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neonatal death, Pt...	OMIM:256520
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short nose, Opacification of the corneal stroma	OMIM:601853
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacificatio...	OMIM:158310
Dubowitz Syndrome	Sparse scalp hair, Aplastic anemia, Wide nasal bridge, Hypoplasia of the iris, Acute lymphoblasti...	OMIM:223370
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly	OMIM:616589
Pearson Syndrome	Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Corneal stromal edema, Cardiomyopat...	ORPHA:699
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Microcornea, Astigmatism, Hypocholesterolemia, Sparse hair, Short nose	OMIM:244450
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Wilson Disease	Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia	ORPHA:905
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Epicanthus, Bowing of the long bones, Aplasia/Hypoplasia of the ...	ORPHA:1225
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter...	OMIM:236670
Congenital Erythropoietic Porphyria	Abnormal bleeding, Nonimmune hydrops fetalis, Edema, Loss of eyelashes, Keratoconjunctivitis, Seb...	ORPHA:79277
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism	OMIM:252600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation	ORPHA:85167
Tbck-Related Intellectual Disability Syndrome	Corneal opacity, Synophrys, Hirsutism, Wide nasal bridge, Abnormal circulating lipid concentratio...	ORPHA:488632
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Right-to-left shunt, Pleur...	OMIM:265380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Micromelia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelvis bo...	ORPHA:93271
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Corneal opacity, Hypoalbuminemia, Nail dystrophy, Anemia	ORPHA:79396
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Edema, Polyhydramnios, Pericardial effusion, Retinal hemorrhage, Hydro...	ORPHA:51608
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Highly arched eyebrow, Curly eyelashes, Micromelia, Proximal pla...	OMIM:122470
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, O...	OMIM:612582
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity	OMIM:272200
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis	OMIM:613673
Incontinentia Pigmenti	Alopecia, Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Keratitis, Abnormal hair...	ORPHA:464
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Wide nasal bridge, Anis...	OMIM:607330
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Hurler Syndrome	Corneal opacity, Splenomegaly, Wide nasal bridge, Generalized hirsutism, Thick eyebrow	ORPHA:93473
Gaucher Disease	Abnormal bleeding, Death in infancy, Hydrocephalus, Hydrops fetalis, Gingival bleeding, Pulmonary...	ORPHA:355
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:235200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes	OMIM:615877
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Hypoplasia of the thymus, Opacification of the corneal stroma, Elevat...	OMIM:214110
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration, Death in childhood	OMIM:557000
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem...	ORPHA:99827
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Short nose, Corneal opacity, Sparse hair	OMIM:601812
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Synophrys, Short nose, Corneal opacity, Thin eyebrow	ORPHA:364577
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,...	OMIM:212093
Fucosidosis	Corneal opacity	ORPHA:349
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret...	OMIM:617713
Pyruvate Kinase Deficiency Of Red Cells	Nonimmune hydrops fetalis	OMIM:266200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,...	OMIM:175780
Gaucher Disease Type 3	Pericardial effusion, Pulmonary arterial hypertension, Hydrops fetalis	ORPHA:77261
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Vasculitis, Hydrops fetalis, Bruising susceptibility	ORPHA:3261
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Cardiomegaly	OMIM:201475
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Alopecia, Sclerocornea	OMIM:613001
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, Coloboma, Eyelid coloboma, Shallow orbits, Phocomelia, Wrist fle...	OMIM:268300
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma	OMIM:251290
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity, Low anterior hairline, Generalized hirsutism	ORPHA:579
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Umbilical hernia, Macroglossia, Cardiomegaly	OMIM:618143
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Hereditary Elliptocytosis	Hydrops fetalis	ORPHA:288
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Abnorm...	ORPHA:324
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphol...	ORPHA:534
Fryns Syndrome	Corneal opacity, Wide nasal bridge	ORPHA:2059
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Wide nasal bridge, Sclerocornea	OMIM:614230
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Focal Dermal Hypoplasia	Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma	ORPHA:2092
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hirsutism	OMIM:259600
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Splenomegaly, Synophrys, Coarse hair, Opacification of the...	ORPHA:581
Alg12-Cdg	Hyponatremia, Low posterior hairline, Hypoalbuminemia, B lymphocytopenia, Hypocholesterolemia, Th...	ORPHA:79324
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin...	OMIM:305600
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow	OMIM:248340
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Ablepharon Macrostomia Syndrome	Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h...	ORPHA:920
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Macroglossia, High palate, Umbilical herni...	ORPHA:96191
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
De Barsy Syndrome	Sparse hair, Cataract, Corneal opacity	ORPHA:2962
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Highly arched eyebrow, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Hand oligodacty...	ORPHA:45358
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Hellp Syndrome	Pulmonary edema, Cerebral hemorrhage, Placental abruption, Prolonged prothrombin time, Hypotensio...	ORPHA:244242
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairli...	ORPHA:495875
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Corneal opacity, Posterior subcapsular cataract, Megalocornea, Iris coloboma, ...	ORPHA:536471
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Cleft palate, Mitral valve prolapse, Atrial s...	OMIM:245600
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Macroglossia, Umbilical hernia, Hypertrophi...	OMIM:252500
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Corneal ulceration, Corneal opacity, Elevated circulating alpha-fetoprotein conc...	OMIM:615273
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, High, narrow palate, Hydrocephalus, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:274000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Enlarged kidney	OMIM:608836
Moebius Syndrome	Breast aplasia, Corneal opacity	ORPHA:570
Oculoectodermal Syndrome	Supernumerary nipple, Wide nasal bridge, Microcornea, Astigmatism, Opacification of the corneal s...	OMIM:600268
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:268800
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, High palate, Atrial septal defect, Left ventricul...	ORPHA:79330
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Cleft palate, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Chime Syndrome	Sparse hair, Corneal opacity, Acute leukemia, Fine hair	ORPHA:3474
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	ORPHA:465508
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifi...	OMIM:614921
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia, Bila...	OMIM:600145
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity, Hirsutism	OMIM:253200
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity	ORPHA:1052
Mucopolysaccharidosis Type 6	Splenomegaly, Opacification of the corneal stroma	ORPHA:583
Niemann-Pick Disease Type C	Ascites, Hydrops fetalis, Fetal ascites	ORPHA:646
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Carpenter Syndrome 1	Microcornea, Polysplenia, Opacification of the corneal stroma	OMIM:201000
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia, Corneal opacity, Iris coloboma	ORPHA:2396
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phy...	OMIM:614866
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity, Breast hypoplasia	ORPHA:464306
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, L...	ORPHA:636
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Sclerocornea, Abnormal eyelash morphology, Wide nasal bridge, Posterior embryotoxon	ORPHA:2556
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:308552
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma	OMIM:251300
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Elevated circulating long chain fatty acid concentration, Cataract, Opacificati...	OMIM:214100
Larsen Syndrome	Corneal opacity, Short nail	OMIM:150250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi...	ORPHA:2072
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat...	OMIM:602782
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	High palate, Cardiomegaly	ORPHA:2463
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Wide nasal bridge,...	ORPHA:818
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Corneal opacity, Wide nasal bridge, Hepatosplenomegaly	ORPHA:217085
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma, Wide nasal bridge	ORPHA:2369
Proboscis Lateralis	Abnormal eyebrow morphology, Cataract, Corneal opacity, Abnormal location of the eyebrow, Microco...	ORPHA:141099
Fucosidosis	Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:230000
Smith-Lemli-Opitz Syndrome	Cataract, Splenomegaly, Wide nasal bridge, Hypoalbuminemia, Elevated circulating 7-dehydrocholest...	OMIM:270400
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Corneal opacity, Wide nasal bridge, Hepatosplenomegaly	ORPHA:217093
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Sclerocornea, High anterior hairline, Wide nasal bridge, Low posterior hai...	ORPHA:280
Mucopolysaccharidosis Type 2	Splenomegaly, Corneal opacity, Wide nasal bridge	ORPHA:580
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Mosaic Trisomy 1	Wide nasal bridge, Opacification of the corneal stroma	ORPHA:1692
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Meckel Syndrome	Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris	ORPHA:564
Williams Syndrome	Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ...	ORPHA:904
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:232300
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Short nose, Iris coloboma, Anterior chamb...	ORPHA:709
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral...	OMIM:219000
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telecanthus, Hypoplastic lacrimal duct, Telangiectasia of the skin, Transient ...	ORPHA:286
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Synophrys, Corneal opacity, Thin eyebrow	OMIM:608670
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Stuve-Wiedemann Syndrome 1	Sparse hair, Short nose, Opacification of the corneal stroma	OMIM:601559
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Polyhydramnios, Abnormal palmar dermatoglyphics, ...	OMIM:214800
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Large placenta, Splenomegaly, Cleft palate, Macroglossia, Large intes...	ORPHA:116
Bohring-Opitz Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Cleft palate, Cardiomegaly	ORPHA:97297
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Neurocardiofaciodigital Syndrome	Sparse hair, Cataract, Sparse eyebrow, Sclerocornea	OMIM:619869
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Noncommunicating hydrocephalus, Hypertension, In...	ORPHA:805
Hereditary Acrokeratotic Poikiloderma	Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal stroma, Dystrophic fingernails...	ORPHA:2907
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Splenomegaly, Developmental cataract, Microcornea, Hypoplasia...	OMIM:133540
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Liver Disease, Severe Congenital	Hepatomegaly, Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Cardiomegaly...	OMIM:619991
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Corneal opacity, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Corneal ul...	ORPHA:740
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Keratitis, Opacification of the corneal stroma, ...	ORPHA:910
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Osteogenesis Imperfecta	Corneal opacity, Thrombocytopenia	ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c...	OMIM:253280
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Cataract, Corneal opacity, Hypertriglyceridemia, Synophrys, Sparse hair, Hirsu...	ORPHA:3455
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:365
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Fryns Syndrome	Polysplenia, Wide nasal bridge, Opacification of the corneal stroma, Facial hirsutism	OMIM:229850
Cockayne Syndrome A	Dry hair, Cataract, Splenomegaly, Opacification of the corneal stroma, Sparse hair	OMIM:216400
Yellow Fever	Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H...	ORPHA:99829
Digeorge Syndrome	Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Posterior e...	OMIM:188400
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia, Enlarged kidney	OMIM:130650
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Opacification of the corneal stroma	OMIM:615287
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Keratitis, Absent eyelashes, Atrichia, Opacification...	OMIM:308205
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Parotitis	OMIM:256040
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

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 Tcf7l1

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 Tcf7l1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
TCF7L1 Controls the Differentiation of Tuft Cells in Mouse Small Intestine.	Cells (May 2023)	Tcf7l1^{tm1a(EUCOMM)Wtsi}	PMC10253002
β-catenin and γ-catenin are dispensable for T lymphocytes and AML leukemic stem cells.	eLife (August 2020)	Tcf7l1^{tm1a(EUCOMM)Wtsi}	PMC7462606
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tcf7l1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tcf7l1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Tcf7l1 protects the anterior neural fold from adopting the neural crest fate.	Development (Cambridge, England) (June 2016)	Tcf7l1^{tm1c(EUCOMM)Wtsi} Tcf7l1^{tm1a(EUCOMM)Wtsi}	27302397

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tcf7l1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tcf7l1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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