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Gene: Tcf7l1 MGI:1202876

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Gene Summary

Name:
transcription factor 7 like 1 (T cell specific, HMG box)
Synonyms:
Tcf3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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 0.56% (3 of 534)
aorta 0.19% (1 of 540)
blood vessel 0.0%
bone 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 522)
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.19% (1 of 529)
peripheral nervous system 0.37% (2 of 541)
peyer's patch 0.63% (1 of 158)
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
striatum 0.37% (2 of 535)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
trachea 0.56% (3 of 535)
uterus 0.38% (2 of 527)
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
Tcf7l1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI

View all 197 images

Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal opacity, abnormal pupil morphology, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal opacity, synechia, cornea/lens fusion, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
corneal vascularization, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
eye, corneal ulcer, corneal opacity, HET, Male, WTSI

View all 10 images

Tcf7l1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Tcf7l1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Tcf7l1tm1a(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.

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
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy 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
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Flared metaphysis, Hydrops fetalis, Micromelia, Polyhydram... OMIM:215045
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... OMIM:136120
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrocephalus, Death in childhood, Hydrops fetalis, Epicanthus, Ascites... OMIM:269920
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... ORPHA:521308
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth OMIM:613124
Achondrogenesis, Type Ib
Hypoplastic ilia, Hydrops fetalis, Micromelia, Polyhydramnios, Umbilical hernia, Edema, Stillbirt... OMIM:600972
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... ORPHA:1263
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Fetal Gaucher Disease
Ectropion, Intracranial hemorrhage, Hydrops fetalis, Neonatal death, Death in infancy, Stillbirth... ORPHA:85212
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Galactosialidosis
Corneal opacity ORPHA:351
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Morquio Syndrome C
Corneal opacity OMIM:252300
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Cenani-Lenz Syndrome
Ectropion, Toe syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Shor... ORPHA:3258
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Telecanthus, Polyhydramnios, Narrow palpebral fissure, Blepharophimo... OMIM:300073
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Neonatal death, Hand oligodactyly OMIM:276822
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... OMIM:619433
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Dysplastic Cortical Hyperostosis
Limb undergrowth, Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology ORPHA:2204
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... OMIM:245900
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly ORPHA:2440
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly... OMIM:620014
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Short palpebral fissure, Short tibia, Abnormality of th... OMIM:251230
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hydrocephalus, Miscarriage, Talipes equinovarus, Broad long bones, Short long... ORPHA:1865
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Achondrogenesis, Type Ii
Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios, Hypoplastic iliac wing, Edema, ... OMIM:200610
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Fetal aki... OMIM:618815
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Hydrops fetalis, Micromelia, Hypoplasia of t... ORPHA:85166
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Aplasia/Hypoplasia of the eyebrow, Hydrops... OMIM:614091
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Absent eyebrow, Palmar telangiectasia, Palpebral edema, Hydr... ORPHA:69735
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Oligodactyly, Short foot, Umbilical ... OMIM:619758
Achondrogenesis Type 1B
Talipes equinovarus, Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Sho... ORPHA:93298
Ethanolaminosis
Cardiomegaly OMIM:227150
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Short foot, Umbilical he... ORPHA:93299
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short femur, Adducted thumb, Flared metaphysis, Hydrops fetalis, Tele... OMIM:616897
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth, Cardiomyopathy ORPHA:1909
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Bilateral talipes equinovarus, B... OMIM:269250
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Cardiomyopathy, Death in infancy, Abnormality of the amniotic fluid OMIM:608540
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Umbilical hernia ORPHA:932
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Upslanted palpebral fissure, Hydrops fetalis, Telecanthus, Epicanthus, Lymphedema, Atrial flutter... OMIM:601927
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lym... ORPHA:1041
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Preeclampsia, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Cong... ORPHA:163596
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... OMIM:201170
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Corneal opacity ORPHA:2370
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Klippel-Trénaunay Syndrome
Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time, Upper limb asymmetry, Internal hemo... ORPHA:90308
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Trisomy 1Q
Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Downslanted palpebral fi... ORPHA:261344
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Absent eyebrow, Palmar telangiectasia, Palpebral edema, Noni... OMIM:607823
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Ptosis OMIM:255320
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Absent thumb, Cicatricial lagophthalmos, Pterygium, Talipes equinova... OMIM:263650
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Gómez-López-Hernández Syndrome
Corneal opacity, Alopecia of scalp ORPHA:1532
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Ulnar deviation of finger, Downslanted palpebral fissures, Umbilical hern... OMIM:265000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Lcat Deficiency
Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... ORPHA:650
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Ol... OMIM:236500
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... ORPHA:1307
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligodactyly, Camptodactyly of ... OMIM:206920
Mulibrey Nanism
Hydrops fetalis, Single transverse palmar crease, Iris coloboma, Thickened cortex of long bones, ... OMIM:253250
Fibrochondrogenesis 1
Clinodactyly of the 5th finger, Joint contracture of the hand, Short long bone, Narrow greater sc... OMIM:228520
Sialidosis Type 2
Pedal edema, Ascites, Hydrops fetalis, Umbilical hernia ORPHA:87876
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Fraser Syndrome 3
Short toe, Cryptophthalmos, Hydrops fetalis, Cutaneous syndactyly OMIM:617667
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Overlapping fingers, Hydrops fetalis, Radioulnar synosto... OMIM:616738
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Achondrogenesis, Type Ia
Bowing of the legs, Short clavicles, Severe limb shortening, Talipes equinovarus, Hypoplasia of t... OMIM:200600
Olmsted Syndrome 1
Alopecia universalis, Corneal opacity, Sparse hair, Opacification of the corneal stroma, Nail dys... OMIM:614594
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Greenberg Dysplasia
Micromelia, Nonimmune hydrops fetalis, Rhizomelia, Tetraphocomelia, Fractured rib, Short long bon... OMIM:215140
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Oligohydramnios ORPHA:3016
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Edema, Portal hypertension, Ascites, Cardiomyopathy, Decreased f... OMIM:232500
Trisomy 13
Ectrodactyly, Hydrops fetalis, Bilateral single transverse palmar creases, Postaxial hand polydac... ORPHA:3378
Campomelia, Cumming Type
Hydrops fetalis, Brachydactyly, Micromelia, Lymphedema, Death in infancy, Bowing of the long bone... ORPHA:1318
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites ORPHA:2123
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Erythrokeratodermia Variabilis
Generalized hirsutism, Corneal opacity, Alopecia, Cataract, Abnormal hair morphology ORPHA:317
Mucopolysaccharidosis, Type Vii
Proximal tapering of metacarpals, Hydrocephalus, Thick eyebrow, Talipes equinovarus, Narrow great... OMIM:253220
Mosaic Trisomy 9
Talipes equinovarus, Upslanted palpebral fissure, Deep palmar crease, Camptodactyly of finger, Hy... ORPHA:99776
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Postaxial polydactyly, Retinal coloboma, Preaxial polydactyly, Hydrops fetalis, An... OMIM:616546
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Congenital Enterovirus Infection
Abnormal bleeding, Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Pe... ORPHA:292
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Hy... ORPHA:2879
Alg8-Cdg
Talipes equinovarus, Oligohydramnios, Hydrops fetalis, Brachydactyly, Camptodactyly, Edema, Ascit... ORPHA:79325
Stuve-Wiedemann Syndrome 2
Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bones, Pulmonary arterial... OMIM:619751
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Transaldolase Deficiency
Telangiectasia, Hydrops fetalis, Edema ORPHA:101028
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Pulmonary insufficiency, Nonimmune hydrops fetalis, Crumpled long bones, Limb unde... OMIM:166210
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Neuraminidase Deficiency
Facial edema, Hydrops fetalis, Ascites, Cardiomyopathy, Epiphyseal stippling OMIM:256550
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencep... OMIM:146510
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Elevated circulating creatine kinase concentration, Cataract, Low anterior hairline OMIM:613153
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Orofaciodigital Syndrome X
Hand oligodactyly, Telecanthus, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polyd... OMIM:165590
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Flared metaphysis, Hydrops fetalis, Premature bi... ORPHA:50945
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Hemochromatosis, Neonatal
Abnormal bleeding, Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Yunis-Varon Syndrome
Hydrocephalus, Slender long bones with narrow diaphyses, Sparse eyebrow, Absent thumb, Tapered fi... ORPHA:3472
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Mucopolysaccharidosis Type 7
Abnormal hip bone morphology, Hydrops fetalis, Lymphedema, Epiphyseal stippling, Metatarsus adduc... ORPHA:584
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Corneal opacity, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Spars... OMIM:602400
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Death in infancy, Premature birth OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Prematu... OMIM:618835
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Facial telangiectasia in butterfly midface distribution, Sparse eyelashes, Palpeb... OMIM:137940
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Encephalocele, Broad hallux phalanx, Downslanted palpebral fissures, Broad thu... ORPHA:2211
Lethal Congenital Contracture Syndrome 10
Talipes equinovarus, Adducted thumb, Overlapping fingers, Hydrops fetalis, Oligohydramnios, Fetal... OMIM:617022
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Limb-Mammary Syndrome
Blepharitis, Clinodactyly of the 5th finger, Lacrimal duct atresia, Sparse eyebrow, 3-4 finger cu... ORPHA:69085
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Epicanthus, Polyhydramnios, ... OMIM:616843
Hurler-Scheie Syndrome
Generalized hirsutism, Corneal opacity, Splenomegaly ORPHA:93476
Congenital Rubella Syndrome
Corneal opacity, Splenomegaly, Thrombocytopenia, Cataract, Anemia, Aplasia/Hypoplasia of the iris ORPHA:290
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Iris coloboma, Eyelid coloboma, Short palm, Foot polydactyly, Cho... ORPHA:268249
Mietens Syndrome
Corneal opacity, Wide nasal bridge, Microcornea, Short nose, Cataract, Sclerocornea ORPHA:2557
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Thick eyebrow, Synophrys, Conjunctivitis, Wide nasal bridge OMIM:602562
Free Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Abnormality of the upper limb ORPHA:834
Harel-Yoon Syndrome
Short nose, Developmental cataract, Corneal opacity OMIM:617183
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Sparse hair, Alopecia, Abnormal anterior chamber morp... ORPHA:3163
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187601
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Juvenile Temporal Arteritis
Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Microphthalmia With Limb Anomalies
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... ORPHA:1106
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Corneal opacity, Alopecia, Cataract, Nail dystrophy ORPHA:1867
Cranioectodermal Dysplasia 2
Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Hydrops fetalis, Brachydactyly, Po... OMIM:613610
Mgat2-Cdg
Abnormal bleeding, Hydrops fetalis, Arrhythmia, Brachydactyly, Downslanted palpebral fissures, Lo... ORPHA:79329
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Farber Disease
Joint swelling, Short toe, Abnormality of the hand, Hydrops fetalis, Abnormality of the wrist, Ab... ORPHA:333
Gm1 Gangliosidosis
Camptodactyly of finger, Hydrops fetalis, Premature birth, Limb undergrowth, Abnormal epiphysis m... ORPHA:354
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Oculomaxillofacial Dysostosis
Corneal opacity, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Abnormal eyelash ... ORPHA:1794
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes, Keratoconjun... ORPHA:163934
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Corneal opacity OMIM:618961
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Arrhinencephaly, Ab... ORPHA:2538
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Tukel Syndrome
Carpal synostosis, Carpal bone aplasia, Syndactyly, Congenital fibrosis of extraocular muscles, P... OMIM:609428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Single umbilical artery ORPHA:3405
Cornelia De Lange Syndrome
Short 1st metacarpal, Micromelia, Radioulnar synostosis, Long eyelashes, Elbow dislocation, Bleph... ORPHA:199
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Hypocholesterolemia, Developmental cataract, Wide nasal bridge OMIM:618810
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Alg9-Cdg
Ulnar deviation of the hand, Talipes equinovarus, Tricuspid regurgitation, Narrow greater sciatic... ORPHA:79328
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Bartsocas-Papas Syndrome
Corneal opacity, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Popliteal pterygi... ORPHA:1234
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Decreased f... OMIM:619334
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Portal hypertension, Ascites, ... ORPHA:367
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Congestiv... OMIM:230500
Yunis-Varon Syndrome
Sparse eyebrow, Absent thumb, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shou... OMIM:216340
Rodrigues Blindness
Fine hair, Sparse hair, Microcornea, Sclerocornea OMIM:268320
Congenital Toxoplasmosis
Intrauterine growth retardation, Hydrocephalus, Hepatomegaly, Cardiomegaly ORPHA:858
Gaucher Disease, Perinatal Lethal
Petechiae, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Purpura, Desquamation of sk... OMIM:608013
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Dilated cardiomyopathy, Abnormality o... OMIM:609015
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... OMIM:602418
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Short long bone, Flared iliac wing, Abnormal placenta ... ORPHA:79255
Alpha-Mannosidosis
Corneal opacity, Cataract, Splenomegaly ORPHA:61
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... ORPHA:1788
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, A... ORPHA:31150
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Pallister-Hall Syndrome
Downslanted palpebral fissures, Umbilical hernia, Polydactyly affecting the 4th finger, Polydacty... ORPHA:672
Sialidosis Type 1
Corneal opacity, Cataract, Wide nasal bridge, Splenomegaly ORPHA:812
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Nonimmune hydrops fetalis, Pericardial effusion, Cardiomyopathy, Death in inf... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Death in infancy, Pleural effusion, Ascites, Prolonged prothrombin time OMIM:617049
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Microcornea, Cataract, Fine hair, Corneal dystrophy, Keratoconjunctivitis sicca, Scl... ORPHA:1806
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Scheie Syndrome
Corneal opacity OMIM:607016
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis, Brachydactyly, Postaxial polysyndactyly of foot, Postax... OMIM:263520
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Cataract, Corneal opacity ORPHA:496790
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Holoprosencephaly, Coloboma, Anterior encephalocele, Foot oligodactyly OMIM:601357
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Xanthelasma, Abnorm... ORPHA:425
Galactosialidosis
Nonimmune hydrops fetalis, Conjunctival telangiectasia OMIM:256540
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, High-output congestive heart failure, Chylothorax, Abnormal bleeding, Nonimmune hy... ORPHA:137667
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Umbilical hernia, Pericardial ef... OMIM:239850
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Downslanted palpebr... OMIM:154400
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... OMIM:608571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Tangier Disease
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Nail dystrophy, Spl... OMIM:205400
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Hennekam Syndrome
Chylothorax, Camptodactyly of finger, Hydrops fetalis, Epicanthus, Lymphedema, Ascites, Pericardi... ORPHA:2136
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Hirsutism, Leukopenia, Elevated circulating creatine kinase concentration, Astig... OMIM:301056
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Hypercholesterolemia, Familial, 1
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma OMIM:143890
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Cataract, Corneal opacity, Pancytopenia ORPHA:309288
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Upslanted palpebral fissure, Hydrops fetalis, Bilateral fetal pyelectasis, Broad palm, Polyhydram... OMIM:300868
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy, Prolonged prothrombin time ORPHA:88618
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Short nose, Developmental glaucoma, Generalized hypertrichosis ORPHA:2409
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Blepharitis, Ectrodactyly, Absent eyebrow, Abnormal nasolacrimal system morphology, Thin eyebrow,... ORPHA:2273
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dilated car... ORPHA:79282
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Poland Syndrome
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle OMIM:173800
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased... ORPHA:1830
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Multiple Sulfatase Deficiency
Corneal opacity, Thick eyebrow, Splenomegaly, Coarse hair, Cataract ORPHA:585
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Walker-Warburg Syndrome
Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris coloboma, ... ORPHA:899
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Short nose, Ca... ORPHA:2719
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Sparse scalp hair, Opacification of the corneal ... OMIM:256800
Cardiac Valvular Dysplasia 1
Mitral stenosis, Hydrops fetalis, Tricuspid regurgitation, Edema OMIM:212093
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Generalized hypertrichosis, Cataract, Corneal opacity ORPHA:93399
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Syndactyly, Lymphedema, Hand polydactyly, Macrodactyly OMIM:149000
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Rhizomelia, Multinucleated giant chondrocytes in epiphyseal carti... OMIM:108720
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Sparse eyelashes, Opacification of the corneal stroma, Absent pubic hair, Hypoplasti... OMIM:211370
Zellweger Syndrome
Corneal opacity, Posterior embryotoxon, Cataract, Brushfield spots, Wide nasal bridge ORPHA:912
Hepatoerythropoietic Porphyria
Ectropion, Abnormal bleeding, Seborrhoeic blepharitis, Keratoconjunctivitis, Nonimmune hydrops fe... ORPHA:95159
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Congenital Sialidosis Type 2
Corneal opacity, Hepatosplenomegaly, Cataract, Developmental cataract, Generalized hypertrichosis ORPHA:93400
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Enlarged kid... OMIM:306955
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Autoimmune Polyendocrinopathy Type 1
Alopecia, Opacification of the corneal stroma, Cataract, Increased circulating cortisol level ORPHA:3453
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Red hair, Decreased corneal thickness OMIM:229200
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Sparse eyebrow, Abnormal eyelash morphology, Cataract, Widow's peak, Conjunctiva... ORPHA:2399
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93474
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth OMIM:618838
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Hyperphosphatemia, Astigmatism ORPHA:2323
Hurler-Scheie Syndrome
Hirsutism, Corneal opacity, Splenomegaly OMIM:607015
Schimke Immunoosseous Dysplasia
Lymphopenia, Coarse hair, Opacification of the corneal stroma, Thrombocytopenia, Pancytopenia, As... OMIM:242900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... OMIM:276820
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Mucoepithelial Dysplasia, Hereditary
Alopecia, Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the co... OMIM:158310
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity, Alopecia OMIM:163200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma, Alopecia ORPHA:1647
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steato... ORPHA:14
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Stromme Syndrome
Accessory spleen, Wide nasal bridge, Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclero... OMIM:243605
3Q29 Microduplication Syndrome
Wide nasal bridge, Iris coloboma, Cataract, Aniridia, Sclerocornea ORPHA:251038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth OMIM:602522
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair, Astigmatism, Sclerocornea ORPHA:2095
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Brachydactyly, Syndactyly, Portal hypertension, Foot oligodactyly OMIM:616589
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion OMIM:619313
Hurler Syndrome
Corneal opacity, Hirsutism, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma... OMIM:607014
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Absent thumb, Partial duplication of thumb phalanx, Nonimmune... ORPHA:124
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Wide nasal bridge OMIM:601499
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis ORPHA:1764
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Decreas... ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Pearson Syndrome
Corneal stromal edema, Dehydration, Hydrops fetalis, Cardiac conduction abnormality, Cardiomyopat... ORPHA:699
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Dubowitz Syndrome
Sparse scalp hair, Megalocornea, Aplastic anemia, Hypocholesterolemia, Iris coloboma, Hypoplasia ... OMIM:223370
Baller-Gerold Syndrome
Hand oligodactyly, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the radius, Epicanthu... ORPHA:1225
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Sparse eyebrow, Microcornea, Astigmatism, Hypocholesterolemia, Short nose OMIM:244450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Pulmonary insufficiency, Right-to-left shunt, Nonimmune hydrops fetal... OMIM:265380
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Wilson Disease
Anemia, Thrombocytopenia, Kayser-Fleischer ring, Splenomegaly ORPHA:905
Gomez-Lopez-Hernandez Syndrome
Short nose, Opacification of the corneal stroma, Alopecia OMIM:601853
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Congenital Erythropoietic Porphyria
Ectropion, Abnormal bleeding, Seborrhoeic blepharitis, Keratoconjunctivitis, Nonimmune hydrops fe... ORPHA:79277
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Stippled calcification of the elbow, Weak pulse, Hydrops fetalis,... ORPHA:51608
Cornelia De Lange Syndrome 1
Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short sternum, Hand o... OMIM:122470
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydactyly, Epica... ORPHA:93271
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Umbilical hernia, Hypertrophic cardiomyopathy ORPHA:1517
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Alopecia, Hypoalbuminemia, Nail dystrophy, Anemia ORPHA:79396
Psoriasis 14, Pustular
Nail dystrophy, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Tbck-Related Intellectual Disability Syndrome
Hirsutism, Corneal opacity, Thick eyebrow, Abnormal circulating lipid concentration, Synophrys, W... ORPHA:488632
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity, Hypotriglyceridemia ORPHA:85167
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Sclerocornea OMIM:613001
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Elevated circulating creatine kinase concentration, Megalocornea, P... OMIM:236670
Gaucher Disease
Hydrocephalus, Abnormal bleeding, Hydrops fetalis, Gingival bleeding, Death in infancy, Pulmonary... ORPHA:355
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly OMIM:272200
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Protruding tongue, Abnormal atrioventricular valve ... ORPHA:324410
Hurler Syndrome
Generalized hirsutism, Corneal opacity, Thick eyebrow, Splenomegaly, Wide nasal bridge ORPHA:93473
Restrictive Dermopathy 1
Sparse eyebrow, Spontaneous chorioamniotic separation, Rocker bottom foot, Short palpebral fissur... OMIM:275210
Pearson Marrow-Pancreas Syndrome
Dehydration, Death in childhood, Hydrops fetalis OMIM:557000
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Incontinentia Pigmenti
Keratitis, Corneal opacity, Supernumerary nipple, Alopecia, Eosinophilia, Cataract, Dystrophic to... ORPHA:464
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Hand oligodactyly, Pulmonary embolism, Hemihypertrophy of upper limb,... ORPHA:2346
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Ventricular sep... ORPHA:363705
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Frontal upsweep of hair, Opacification of the corneal stroma, Posterior embryot... OMIM:612582
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Opacification... OMIM:214110
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Gaucher Disease Type 3