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Gene: Slbp MGI:108402

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Gene Summary

Name:
stem-loop binding protein
Synonyms:
N/A

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
embryonic lethality prior to tooth bud stage Slbptm1.1(KOMP)Vlcg HOM   E12.5 0.00
corneal opacity Slbptm1.1(KOMP)Vlcg HET   Early adult 4.89×10-05
hyperactivity Slbptm1.1(KOMP)Vlcg HET Early adult 3.64×10-05
preweaning lethality, complete penetrance Slbptm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased mean corpuscular hemoglobin Slbptm1.1(KOMP)Vlcg HET Early adult 1.77×10-05
increased circulating bilirubin level Slbptm1.1(KOMP)Vlcg HET Early adult 1.41×10-05
increased circulating aspartate transaminase level Slbptm1.1(KOMP)Vlcg HET Early adult 1.83×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Slbp 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 Slbp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia, Ectopia lentis OMIM:238700
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Schizophrenia 15
Hyperactivity OMIM:613950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Hijazi-Reis Syndrome
Astigmatism, Abnormal repetitive mannerisms, Iris coloboma, Hyperbilirubinemia OMIM:301094
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Galactosialidosis
Corneal opacity ORPHA:351
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... OMIM:245900
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Winchester Syndrome
Corneal opacity OMIM:277950
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Acute Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529808
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Attention deficit hype... ORPHA:293939
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia ORPHA:281090
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior OMIM:619075
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia ORPHA:290
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hyperbilirubinemia OMIM:609734
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... OMIM:608885
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hyperbilirubinemia OMIM:235555
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b... ORPHA:79303
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubin... OMIM:557000
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior OMIM:612716
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:73272
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Recurrent hand flapping,... ORPHA:3008
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Stomat... ORPHA:168577
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Sialidosis Type 2
Splenomegaly, Corneal opacity ORPHA:87876
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Cystinosis
Corneal opacity, Hypokalemia, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... OMIM:614887
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... OMIM:612469
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia OMIM:607765
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity ORPHA:61
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, El... OMIM:608836
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93476
Senior-Boichis Syndrome
Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol... ORPHA:84081
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration OMIM:603776
Scheie Syndrome
Corneal opacity OMIM:607016
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hyperbilirubinemia OMIM:613812
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Wilson Disease
Aggressive behavior, Hypersexuality, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia ORPHA:905
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Leukopenia, Astigmatism, Thr... OMIM:301056
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Caroli Disease
Anorexia, Conjugated hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Splenomegaly, Abnorm... ORPHA:53035
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:144010
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Caroli Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Hypersplenism, Leukopenia, Hyp... ORPHA:480520
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... ORPHA:1830
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Dysphagia ORPHA:93399
Fumarase Deficiency
Conjunctival icterus, Polycythemia, Hyperbilirubinemia OMIM:606812
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... ORPHA:31150
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Atte... ORPHA:90674
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Cataract, Violent behavior, Impulsivity, Aggressive behavior... OMIM:619475
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Mirizzi Syndrome
Hyperbilirubinemia, Anorexia ORPHA:521219
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phy... OMIM:614866
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping OMIM:617101
X-Linked Intellectual Disability, Nascimento Type
Aggressive behavior, Developmental cataract, Compulsive behaviors, Neutropenia, Neonatal hyperbil... ORPHA:163956
Congenital Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma OMIM:601853
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... ORPHA:333
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Gm1 Gangliosidosis
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Dysphagia, Oral aversion ORPHA:354
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Multiple Sulfatase Deficiency
Splenomegaly, Cataract, Corneal opacity ORPHA:585
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... OMIM:615273
Ogden Syndrome
Polycythemia, Iron deficiency anemia, Hyperbilirubinemia, Dysphagia, Abnormal repetitive manneris... OMIM:300855
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Hypersexuality, Splenomegaly, Dysp... ORPHA:581
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Degcags Syndrome
Pancytopenia, Oral-pharyngeal dysphagia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leuko... OMIM:619488
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Reynolds Syndrome
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia OMIM:613471
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... OMIM:175780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... ORPHA:324
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, S... ORPHA:534
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia, Anemia ORPHA:79396
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Schimke Immunoosseous Dysplasia
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... OMIM:242900
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Hurler Syndrome
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:607014
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Incontinentia Pigmenti
Cataract, Corneal opacity, Eosinophilia, Keratitis, Attention deficit hyperactivity disorder ORPHA:464
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Multiple Sulfatase Deficiency
Splenomegaly, Corneal opacity OMIM:272200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Hypoplasia of the thymus, Opacification of the corneal stroma, Elevat... OMIM:214110
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity ORPHA:239
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Cranioectodermal Dysplasia 2
Splenomegaly, Polysplenia, Hyperbilirubinemia OMIM:613610
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma OMIM:251290
Fucosidosis
Corneal opacity ORPHA:349
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia OMIM:301068
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Astigmatism, Corneal opacity, Attention deficit hyperactivity dis... ORPHA:464311
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Mucopolysaccharidosis Type 2
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Splenomegaly, Abnormal temper t... ORPHA:580
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Dyrk1A-Related Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Astigmatism, Corneal opacity ORPHA:464306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Gaucher Disease
Pancytopenia, Corneal opacity, Elevated circulating C-reactive protein concentration, Thrombocyto... ORPHA:355
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratoconjunctivitis sicca,... ORPHA:495875
Lathosterolosis
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... ORPHA:46059
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Iris atrophy OMIM:620305
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism ORPHA:309282
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity ORPHA:579
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Iris coloboma, Unconjugated hyperbilirubinemia OMIM:620186
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Abnormal cornea morphology, Hypokalemia, Hypo... ORPHA:411629
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos... ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:274000
Hurler Syndrome
Splenomegaly, Corneal opacity ORPHA:93473
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Abnormal hemoglobin, Anemia ORPHA:847
Fryns Syndrome
Corneal opacity ORPHA:2059
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Kindler Epidermolysis Bullosa
Anemia, Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Oculoectodermal Syndrome
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... OMIM:301040
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Attention deficit hyperactivity disorder... ORPHA:636
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma, Dysphagia, Elevated circulating ... OMIM:214100
Carpenter Syndrome 1
Microcornea, Polysplenia, Opacification of the corneal stroma OMIM:201000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cataract, Corneal opacity ORPHA:1052
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma OMIM:251300
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma ORPHA:583
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Williams Syndrome
Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ... ORPHA:904
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Elevated circulating 7-dehydrocholesterol concen... ORPHA:818
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Larsen Syndrome
Corneal opacity OMIM:150250
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Osteogenesis Imperfecta
Corneal opacity, Thrombocytopenia, Dysphagia ORPHA:666
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Megalocornea, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252500
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Attention d... OMIM:188400
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217093
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Conjunctival icterus, Sp... OMIM:243800
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Cockayne Syndrome B
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... OMIM:133540
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypertriglyceridemia ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Cockayne Syndrome A
Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:216400
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Fryns Syndrome
Polysplenia, Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slbp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slbp.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slbptm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Slbptm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slbptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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