Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-05
decreased circulating HDL cholesterol level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 7.30×10-05
increased circulating creatine kinase level Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 6.38×10-11
abnormal cornea morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 7.02×10-05
increased leukocyte cell number Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 7.66×10-05
corneal opacity Tcf7l1tm1a(EUCOMM)Wtsi HET Early adult 8.15×10-05
abnormal snout morphology Tcf7l1tm1a(EUCOMM)Wtsi HET   Early adult 8.38×10-05

Download data as:  TSV  XLS

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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%
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

View all 197 images

View all 10 images

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.

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 Similarity of
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Death in childhood, Epicanthus, Ptosis, Hydrocephalus, Hydrops... OMIM:269920
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Advanced tarsal ossification, Stillbirth, Polyhydra... OMIM:215045
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Oligodactyly, Almond-shaped palpebral fissure, Abnormality of the ha... ORPHA:521308
Achondrogenesis, Type Ib
Hypoplastic ilia, Micromelia, Umbilical hernia, Breech presentation, Stillbirth, Polyhydramnios, ... OMIM:600972
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Death in infancy, Stillbirth, ... ORPHA:85212
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal opacity ORPHA:351
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Oligodactyly, Oligohydramnios, Hu... OMIM:251230
Morquio Syndrome C
Corneal opacity OMIM:252300
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
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
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Downslanted palpebral... ORPHA:3258
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy ORPHA:295
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormal limb bone morphology, Limb undergrowth ORPHA:2204
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... OMIM:620014
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Death in infancy, Pulmonary insuffi... OMIM:619433
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ischia, Hypoplastic ilia, Increased placental thickness, Micromelia, Clubbing of fing... ORPHA:1865
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Umbilical hernia, Oligodactyly, Upslanted palpebral fissure, Decreased fetal movement, Ptosis, Cl... OMIM:619758
ERI1-related disease
Slender metacarpals, Oligodactyly, Tricuspid regurgitation, Clinodactyly of the 5th finger, Limit... OMIM:608739
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Fetal akinesia sequence, B... OMIM:618815
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Absent eye... ORPHA:69735
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cardiomegaly OMIM:227150
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Ascites, Decreased fibular diameter, Telecanthus, Hypertrophic cardiomyopathy,... OMIM:616897
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Micromelia, Hypoplasia... ORPHA:85166
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly, Bowing of... OMIM:614091
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Hydrops fetalis, Neonatal death OMIM:276822
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Cardiomyopathy, Premature birth ORPHA:1909
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death OMIM:619003
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Telecanthus, Oligohydramnios, Upslanted palpebral fissure, Epicanthus... OMIM:601927
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophi... OMIM:618052
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Achondrogenesis Type 1B
Micromelia, Umbilical hernia, Talipes equinovarus, Hydrops fetalis, Thickened nuchal skin fold, P... ORPHA:93298
Achondrogenesis Type 1A
Micromelia, Umbilical hernia, Hydrops fetalis, Thickened nuchal skin fold, Polyhydramnios, Short ... ORPHA:93299
Schneckenbecken Dysplasia
Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Nonimmune hydrops fetalis, ... OMIM:269250
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fetalis OMIM:608540
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma... OMIM:201170
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Joubert Syndrome 15
Coloboma, Exencephaly, Preaxial polydactyly OMIM:614464
Micromelia, Umbilical hernia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:932
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Corneal opacity ORPHA:2370
Fraser Syndrome 3
Short toe, Ascites, Cryptophthalmos, Oligohydramnios, Nonimmune hydrops fetalis, Cutaneous syndac... OMIM:617667
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, Talipes equinovarus, Brad... OMIM:232500
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Death in infancy, Neonatal death, Ectropion, Premature birth OMIM:242500
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity ORPHA:1532
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Ptosis, Hydrops fetalis, Decreased fetal movement OMIM:255320
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Absent eyelashes, Talipes equinovarus, Cicatricial ... OMIM:263650
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Upper limb as... ORPHA:90308
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Short long bone, Still... OMIM:200610
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica... ORPHA:163596
Trisomy 1Q
Toe syndactyly, Downslanted palpebral fissures, Preaxial hand polydactyly, Camptodactyly of finge... ORPHA:261344
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Lcat Deficiency
Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-... ORPHA:650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hemolytic anemia, N... OMIM:245900
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Patellar aplasia, Arachnodactyly, Epicanthus, Talipes equinovarus, Disloca... OMIM:265000
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema, Umbilical hernia ORPHA:87876
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental cataract, Decreased H... OMIM:616834
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Mulibrey Nanism
Congestive heart failure, Ascites, Single transverse palmar crease, Thickened cortex of long bone... OMIM:253250
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... ORPHA:1307
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Fibrochondrogenesis 1
Hypoplastic ischia, Small hand, Rhizomelia, Hypoplastic scapulae, Joint contracture of the hand, ... OMIM:228520
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Achondrogenesis, Type Ia
Hypoplastic ischia, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe limb sho... OMIM:200600
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle... OMIM:616738
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Downslanted palpebral fissures, Congestiv... OMIM:620609
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Large placenta, Neonatal death, Diaphyseal undertubula... OMIM:215140
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Oligohydramnios, Hydrocephalus, Hypoplasia of the radius ORPHA:3016
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Overlapping fingers, Oligohydramnios, Femoral bowing, Fetal akine... OMIM:617022
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Fetal Akinesia Deformation Sequence 1
Hip contracture, Talipes equinovarus, Elbow ankylosis, Blepharophimosis, Short palpebral fissure,... OMIM:208150
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Nonimmune hydrops fetalis, Absent eye... OMIM:607823
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Corneal opacity ORPHA:317
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Bilateral single transverse palmar creases,... ORPHA:3378
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Death in infancy, Bowing of the long b... ORPHA:1318
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Diffuse Neonatal Hemangiomatosis
Ascites, Hydrops fetalis, Polyhydramnios, Premature birth ORPHA:2123
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Oligohydramnios, Single transverse palmar crease, Neonatal death, 2-3 toe syndac... OMIM:236500
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Ascites, Oligohydramnios, Talipes equinovarus, Brachydactyly, Camptodactyly, Hydrops fetalis, Ede... ORPHA:79325
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Finger clinodactyly, Camptodactyly of finger, Elbow dislocation, ... ORPHA:99776
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Bowing of the long bones, Death in adolescence, Pulmona... OMIM:619751
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Death in infancy, Non... OMIM:620167
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Genu valgum, Thick eyebrow, Acetabular dysplasia, Proximal tape... OMIM:253220
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosis, 2-5 toe syndac... OMIM:206920
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Congenital Enterovirus Infection
Fetal ascites, Hypotension, Abnormal bleeding, Cardiomyopathy, Fetal distress, Pleural effusion, ... ORPHA:292
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Congestive heart failure, Broad long bones, Crumpled long... OMIM:166210
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Transaldolase Deficiency
Telangiectasia, Hydrops fetalis, Edema ORPHA:101028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Corneal opacity, Low anterior hairline OMIM:613153
Hemochromatosis, Neonatal
Oligohydramnios, Abnormal bleeding, Nonimmune hydrops fetalis OMIM:231100
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... ORPHA:2879
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Ascites, Epiphyseal stippling, Hydrops fetalis OMIM:256550
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... OMIM:137940
Blepharocheilodontic Syndrome 1
Clinodactyly, Euryblepharon, Distichiasis, Cutaneous syndactyly, Ectropion of lower eyelids, Neur... OMIM:119580
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Lymphedema, Umbilical hernia, Hypoplastic iliac wing, ... OMIM:235510
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, Flared metaphy... ORPHA:50945
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Premature birth OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Prematu... OMIM:618835
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Hydranencephaly, Tricuspid regurgitation, Long eyelashes, Telecanthus, Ups... OMIM:620371
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Occipital meningocele, Pos... OMIM:616546
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Downslanted palpebral fissures, Preaxial hand polydactyly, Eyelid... ORPHA:2211
Mucopolysaccharidosis Type 7
Lymphedema, Ascites, Umbilical hernia, Abnormal hip bone morphology, Epiphyseal stippling, Metata... ORPHA:584
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Corn... OMIM:602400
Hurler-Scheie Syndrome
Generalized hirsutism, Splenomegaly, Corneal opacity ORPHA:93476
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Pericardial effusion, Hydrops fetalis, Hip d... OMIM:608776
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem... OMIM:616843
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Harel-Yoon Syndrome
Short nose, Developmental cataract, Corneal opacity OMIM:617183
Limb-Mammary Syndrome
Sparse eyebrow, Toe syndactyly, Lacrimal duct atresia, Oligodactyly, Absent lacrimal punctum, 3-4... ORPHA:69085
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Wide nasal bridge, Keratitis, Thick eyebrow, Corneal opacity, Conjunctivitis, Synophrys OMIM:602562
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Corneal opacity, Anemia ORPHA:290
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Congenital abnormal hair pattern ORPHA:1867
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Sparse eyelashes, Aplasia of the distal phalanges of... ORPHA:3472
Mietens Syndrome
Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose ORPHA:2557
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Abnormality of the upper limb ORPHA:834
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Eyelid coloboma, Hydrocephalus, Foot polydactyly, Hydrops fetalis, Iris c... ORPHA:268249
Short Syndrome
Wide nasal bridge, Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Pos... ORPHA:3163
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Tangier Disease
Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Elevated circulating apoli... OMIM:205400
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Farber Disease
Short toe, Short finger, Ascites, Abnormality of the wrist, Joint swelling, Abnormality of the ha... ORPHA:333
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Congenital Myopathy 22B, Severe Fetal
Tapered toe, Shoulder flexion contracture, Slender long bone, Downslanted palpebral fissures, Asc... OMIM:620369
Cranioectodermal Dysplasia 2
Sparse eyebrow, Rhizomelia, Clinodactyly, Telecanthus, Upslanted palpebral fissure, Sparse eyelas... OMIM:613610
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Distichi... OMIM:153400
Abnormal bleeding, Downslanted palpebral fissures, Long eyelashes, Arrhythmia, Brachydactyly, Hyd... ORPHA:79329
Oculomaxillofacial Dysostosis
Wide nasal bridge, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Corneal opacity... ORPHA:1794
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Sparse eyebrow, Hypocholesterolemia, Developmental cataract, Brittle hair OMIM:618810
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... ORPHA:163934
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diaphysis morpholog... ORPHA:354
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Radiou... ORPHA:199
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Corneal opacity OMIM:618961
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Single umbilical artery ORPHA:3405
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Nonim... OMIM:617021
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Epicanthus, Short distal phalanx of the 5th finger, Hip... OMIM:620662
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Bartsocas-Papas Syndrome
Popliteal pterygium, Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelas... ORPHA:1234
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Broad long bone diaphyses, Acetabular dysplasia, Flared iliac wing, Hydrops fetal... ORPHA:79255
Sjogren-Larsson Syndrome
Abnormal hair morphology, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus ORPHA:858
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Nonimmune hydrops fetalis OMIM:618265
Olmsted Syndrome 1
Alopecia universalis, Opacification of the corneal stroma, Nail dystrophy, Corneal opacity, Spars... OMIM:614594
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Nonimmune hydrops fetalis,... OMIM:620244
Rhizomelia, Flared metaphysis, Tricuspid regurgitation, Telecanthus, Oligohydramnios, Decreased f... ORPHA:79328
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death OMIM:614096
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Ascites, Portal hypertension, Nonimmune hydrops... ORPHA:367
Baller-Gerold Syndrome
Radial deviation of the hand, Absent thumb, Patellar hypoplasia, Downslanted palpebral fissures, ... OMIM:218600
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Decreased fetal movement, Neonatal death, Adducted thumb, P... OMIM:619334
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Absent hand, Abnor... ORPHA:2538
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Cataract, Splenomegaly, Corneal opacity ORPHA:61
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Short nose, Corneal opacity ORPHA:496790
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Corneal opacity, Thrombocytopenia, Hyper... ORPHA:31150
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Petechiae, Decreased fetal movement, Nonimmune hy... OMIM:608013
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse hair, Corneal ... ORPHA:1806
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Sialidosis Type 1
Wide nasal bridge, Cataract, Splenomegaly, Corneal opacity ORPHA:812
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Death in childhood, Almond-shaped palpebral fissure, Nonimmune hydrops fetalis, D... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time OMIM:617049
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... ORPHA:425
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy, ... OMIM:230500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Coloboma, Holoprosencephaly, Short femur OMIM:601357
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hydrops fetalis, Abnormality of the... OMIM:609015
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Conjunctival telangiectasia, Nonimmune hydrops fetalis OMIM:256540
Noonan Syndrome 2
Sparse eyebrow, Prominent fingertip pads, Cardiomyopathy, Downslanted palpebral fissures, Hypertr... OMIM:605275
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Elevated circulating creatine kinase concentration, Hirsutism, Thrombocy... OMIM:301056
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... OMIM:239850
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, S... OMIM:216340
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ... OMIM:263520
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Abnormal bleeding, Lymphedema, Congestive heart failure, Cerebral ischemi... ORPHA:137667
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Congenital Syphilis
Large placenta, Petechiae, Tibial bowing, Hydrocephalus, Myocarditis, Hydrops fetalis, Purpura, P... ORPHA:499009
Hennekam Syndrome
Chylothorax, Finger syndactyly, Lymphedema, Ascites, Camptodactyly of finger, Epicanthus, Pericar... ORPHA:2136
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity ORPHA:309288
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:143890
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... ORPHA:1830
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Splenomegaly, Corneal opacity ORPHA:585
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis, Prolonged prothrombin time ORPHA:88618
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ectrodactyly, Camptodactyly of finger, Oligodactyly, Thin eyebrow, Abnormal pelvis bone morpholog... ORPHA:2273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Upslanted palpebral fissure, Death in infancy, Hip con... OMIM:300868
Lowry-Maclean Syndrome
Generalized hypertrichosis, Megalocornea, Developmental glaucoma, Corneal opacity, Short nose ORPHA:2409
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Corneal opacity OMIM:620469
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Iris ... ORPHA:899
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Pericardial effusion OMIM:614702
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opacification of the cor... OMIM:256800
Juvenile Sialidosis Type 2
Cataract, Hepatosplenomegaly, Corneal opacity, Generalized hypertrichosis ORPHA:93399
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Talipes equinovarus, Radioulnar synostosis, Aplasi... OMIM:154400
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Macular coloboma, Pulmonary arte... ORPHA:79282
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Anemia, Hypopigmentation of ha... ORPHA:2719
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Zellweger Syndrome
Wide nasal bridge, Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Congenital Sialidosis Type 2
Cataract, Hepatosplenomegaly, Developmental cataract, Corneal opacity, Generalized hypertrichosis ORPHA:93400
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly OMIM:230650
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Opacification of the corneal stroma, Increased circulating cortisol level ORPHA:3453
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Abnormal bleeding, Nonimmune hydrops fetalis, Loss of eyelashes, Keratoc... ORPHA:95159
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Conjunctival hyperemia, Corneal opacity, Abnormal eyelash morphology, W... ORPHA:2399
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity, Hirsutism OMIM:607015
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Nonimmune hydrops fetalis OMIM:619313
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Schimke Immunoosseous Dysplasia
Wide nasal bridge, Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Abnormal T cell morphology,... OMIM:242900
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Adams-Oliver Syndrome 6
Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Brachydactyly, Syndactyly OMIM:616589
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Oculocerebrocutaneous Syndrome
Alopecia, Iris coloboma, Corneal opacity ORPHA:1647
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypophosphatemic rickets, Corneal opacity OMIM:163200
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Autoinflammatory Disease, Systemic, With Vasculitis
Ascending tubular aorta aneurysm, Small vessel vasculitis, Periorbital edema, Conjunctivitis, Hyd... OMIM:620376
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Corneal opacity, Corneal erosion ORPHA:1764
3Q29 Microduplication Syndrome
Wide nasal bridge, Cataract, Aniridia, Sclerocornea, Iris coloboma ORPHA:251038
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Astigmatism, Low anterior hairline, Generalized hirsutism, Sclerocornea ORPHA:2095
Stromme Syndrome
Wide nasal bridge, Cataract, Microcornea, Accessory spleen, Peters anomaly, Sclerocornea, Iris co... OMIM:243605
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Hurler Syndrome
Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Hirsutism, Corneal opacity, Opacification of... OMIM:607014
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, A... OMIM:256520
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Opacification of the corneal stroma, Nail dystrophy, Corneal neo... OMIM:158310
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Abnormality of the thenar eminence, Partial duplication of thumb phala... ORPHA:124
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva... ORPHA:96180
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Dubowitz Syndrome
Wide nasal bridge, Aplastic anemia, Sparse lateral eyebrow, Hypoplasia of the iris, Megalocornea,... OMIM:223370
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Corneal opacity... OMIM:620519
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Microcornea, Hypocholesterolemia, Astigmatism, Sparse hair, Short nose OMIM:244450
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Gomez-Lopez-Hernandez Syndrome
Alopecia, Opacification of the corneal stroma, Short nose OMIM:601853
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Pearson Syndrome
Cardiomyopathy, Cardiac conduction abnormality, Corneal stromal edema, Ptosis, Hydrops fetalis, D... ORPHA:699
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Downslanted palpebr... OMIM:614437
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Scheie Syndrome
Corneal opacity OMIM:607016
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly, Kayser-Fleischer ring ORPHA:905
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Abnormal circulating lipid concentration, Thick eyebrow, Hirsutism, Corneal op... ORPHA:488632
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Abnormal bleeding, Nonimmune hydrops fetalis, Loss of eyelashes, Keratoc... ORPHA:79277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ep... OMIM:276820
Multiple Sulfatase Deficiency
Splenomegaly, Corneal opacity OMIM:272200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Nail dystrophy, Corneal opacity, Anemia ORPHA:79396
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Right-to-left shunt, Pleural effusion, Nonimmune hydrops fetalis, Ne... OMIM:265380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Epicanthus, Hydrops fet... ORPHA:93271
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Frontal upsweep of hair, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior... OMIM:612582
Incontinentia Pigmenti
Cataract, Alopecia, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology... ORPHA:464
Generalized Arterial Calcification Of Infancy
Fetal distress, Ascites, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis, Subp... OMIM:212093
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent... ORPHA:324410
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Hurler Syndrome
Wide nasal bridge, Thick eyebrow, Splenomegaly, Generalized hirsutism, Corneal opacity ORPHA:93473
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Prolonged bleeding time, Bruising suscept... ORPHA:906
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Sclerocornea OMIM:615877
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites... ORPHA:99827
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Opacification of the corneal stroma, Hypoplasia of the thymus, Elevated circulating lon... OMIM:214110
Corneal opacity ORPHA:349
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Death in childhood, Dehydration OMIM:557000
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Premature Aging Syndrome, Penttinen Type