Gene Summary

Name:
transketolase
Synonyms:
p68

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 organogenesis Tktem1(IMPC)H HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Tktem1(IMPC)H HOM   E12.5 0.00
increased red blood cell distribution width Tktem1(IMPC)H HET Early adult 5.33×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tkt 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.

The table below shows human diseases associated to Tkt by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect... ORPHA:488618
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Atrial septal defect, Patent foramen ovale OMIM:617044

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Microphthalmia, Obesi... ORPHA:141333
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly, Microphthalmia ORPHA:2432
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Microphthalmia, Hypogonadism ORPHA:2528
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventri... OMIM:615524
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Microphthalmia ORPHA:3434
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth... OMIM:232700
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic he... ORPHA:2470
2Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Camptodactyly of finger, Microphthalmia, Growth delay ORPHA:1617
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Growth delay, Uraciluria, Microphthalmia OMIM:274270
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Microphthalmia, Intrauterine growth retard... ORPHA:858
Cofs Syndrome
Short stature, Camptodactyly of finger, Hypogonadism, Arthrogryposis multiplex congenita, Microph... ORPHA:1466
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Decreased liver function, Elevated hepatic transaminase, Hydronephrosis, Postn... OMIM:617093
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Microphthalmia OMIM:615297
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Congenital Varicella Syndrome
Atypical scarring of skin, Intrauterine growth retardation, Microphthalmia ORPHA:291
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Microphthalmia, Obesity, Cryptorchidism, Hypogonadism ORPHA:363741
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Hyp... ORPHA:163971
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Seckel Syndrome 2
Short stature, Small for gestational age, Hypospadias, Ectopic kidney, Microphthalmia, Growth delay OMIM:606744
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Short stature... ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Micropenis, Camptodactyly of finger, Microphthalmia, Growth delay, Int... OMIM:610756
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Ventricular septal def... ORPHA:290
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Pierpont Syndrome
Failure to thrive, Decreased body weight, Micropenis, Short stature, Microphthalmia, Cryptorchidism OMIM:602342
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia ORPHA:3469
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Short stature, Microphthalmia, Cryptorchidism OMIM:600118
Joubert Syndrome 37
Hepatomegaly, Micropenis, Short stature, Hydronephrosis, Microphthalmia, Decreased testicular siz... OMIM:619185
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microphthalmia, Intrauteri... ORPHA:48431
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Pierpont Syndrome
Cryptorchidism, Small for gestational age, Abnormal subcutaneous fat tissue distribution, Microph... ORPHA:487825
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Short stature, Renal hypoplasia, Microphthalmia OMIM:617914
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Inguinal hernia, Cigarette-paper scars OMIM:608763
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Nanophthalmos
Microphthalmia ORPHA:35612
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy,... OMIM:610198
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Hydronephrosis, Microphthalmia ORPHA:195
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Vaginal fistula, Short stature, Unilateral microphthalmos, Horseshoe kidne... OMIM:619318
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Renal hypoplasia, Decreased testicular s... ORPHA:85284
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Poor eye contact, Micropenis OMIM:308350
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Decreased body weight, Atrial septal defect, Decreased response ... OMIM:609053
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Male pseudohermaphroditism, Bilateral microphthalmos, Postnatal growth retardation,... OMIM:600122
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Inguinal hernia, Microphthalmia ORPHA:1135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Ambiguous genitalia, Rhizomelia, Omphalocele, Microphthalmia ORPHA:93267
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Short stature, Optic nerve hypoplasia, Microphthalmia... OMIM:614833
Trisomy 13
Atrial septal defect, Abnormality of the ureter, Anophthalmia, Multiple renal cysts, Abnormal mor... ORPHA:3378
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Baraitser-Winter Syndrome 1
Failure to thrive, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Short stature, Micro... OMIM:243310
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Bilateral ... OMIM:618652
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Proteinuria, Microphthalmia, Postnatal growth retardation, Cryptorchidism, ... ORPHA:2728
Marden-Walker Syndrome
Joint contracture of the hand, Inguinal hernia, Micropenis, Hypospadias, Camptodactyly, Dextrocar... OMIM:248700
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism OMIM:618165
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Microphthalmia, Joint contracture of the hand, Flexion contracture, Small for ... OMIM:214150
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Warburg Micro Syndrome 4
Flexion contracture, Micropenis, Short stature, Severe postnatal growth retardation, Decreased te... OMIM:615663
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Hsd10 Disease
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid, Postnatal growth re... ORPHA:391417
Joubert Syndrome 22
Renal hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:615665
Encephalocraniocutaneous Lipomatosis
Lipoma, Atrial septal defect, Multiple central nervous system lipomas, Ventricular septal defect,... OMIM:613001
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Cerebrooculofacioskeletal Syndrome 4
Decreased body weight, Short stature, Camptodactyly of finger, Wrist flexion contracture, Flexion... OMIM:610758
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... OMIM:308750
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/H... ORPHA:137902
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Hepatomegaly, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior ORPHA:444002
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Hypospadias, Ventricular septal defect, Microphthalmia, Postnata... ORPHA:494344
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Gracile Bone Dysplasia
Failure to thrive, Short stature, Micropenis, Hypoplastic spleen, Microphthalmia, Aniridia, Asplenia OMIM:602361
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hernia, Microphthalmia OMIM:602501
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Hypoplasia of penis, Microphthalmia ORPHA:2547
Warburg Micro Syndrome 3
Flexion contracture, Micropenis, Hypoplastic labia minora, Decreased testicular size, Microphthal... OMIM:614222
Frontonasal Dysplasia 1
Joint contracture of the hand, Tetralogy of Fallot, Camptodactyly, Microphthalmia, Frontal cutane... OMIM:136760
Warburg Micro Syndrome 2
Microphthalmia, Flexion contracture, Micropenis, Hypoplastic labia majora, Postnatal growth retar... OMIM:614225
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Microphthalmia, Growth... ORPHA:77298
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Microphthalmia, Bile duct proliferat... OMIM:611134
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Lissencephaly 8
Delayed social development, Microphthalmia OMIM:617255
Fanconi Anemia, Complementation Group F
Failure to thrive, Intrauterine growth retardation, Atrial septal defect, Decreased response to g... OMIM:603467
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 4th finger, Pulmonic stenosis, Joint contracture of the... OMIM:618914
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Small for gestational age, Camptodactyly, Microphthalmia, Int... OMIM:618804
Meckel Syndrome, Type 2
Renal cyst, Omphalocele, Microphthalmia, Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Male infertility, Horse... OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Short stature, Arthrogryposis-like hand anomaly, Camptodactyly, Ventricular sep... ORPHA:369891
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Camptodactyly of finger, Mu... ORPHA:99776
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Microphthalmia, Cryptorchidism, Intrauterine growth retardation, Small scrotum ORPHA:228390
Fanconi Anemia, Complementation Group S
Failure to thrive, Short stature, Ovarian neoplasm, Microphthalmia OMIM:617883
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Short stature, Hypospadias, Umbilical hernia, Microphthalmia, Cryptorchidism, Ab... ORPHA:2505
Kapur-Toriello Syndrome
Failure to thrive, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Microphth... ORPHA:2328
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Horseshoe kidney, Ectop... OMIM:600901
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 5
Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Mic... OMIM:610125
Ring Chromosome 10 Syndrome
Cachexia, Intrauterine growth retardation, Microphthalmia ORPHA:1438
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Camptodactyly, Arthrogryposis multiple... OMIM:157900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Short stature, Hypospadias, Unilateral microphthalmos, Enamel hypoplasia, Mitr... OMIM:618874
Spondylo-Ocular Syndrome
Short stature, Aplasia/Hypoplasia of the lens, Disproportionate short-trunk short stature, Ventri... ORPHA:85194
Osteoporosis-Pseudoglioma Syndrome
Short stature, Isosexual precocious puberty, Microphthalmia ORPHA:2788
Kapur-Toriello Syndrome
Atrial septal defect, Joint contracture of the hand, Micropenis, Camptodactyly of finger, Ventric... OMIM:244300
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Intrauterine growth retardation, Atrial septal defect, Atrioventricular canal defect, Tetralogy o... OMIM:600123
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Bicornuate uterus, Micropenis, Ventricular septal defect... OMIM:264480
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Knee flexion contracture, Camptodactyly OMIM:619694
Fanconi Anemia, Complementation Group C
Flexion contracture, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Ve... OMIM:227645
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Cat Eye Syndrome
Tricuspid atresia, Microphthalmia, Atrial septal defect, Hypoplastic left heart, Short stature, P... OMIM:115470
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Microphthalmia, Bilateral cryptorchidism, Intrauterine growth r... OMIM:616395
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Cryptorchidism, Atrioventricular canal defect, Microphthalmia OMIM:619135
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2117
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 3
Optic nerve aplasia, Micropenis, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Optic... OMIM:206900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Atrial septal defect, Severe postnatal growth retardation, Acc... OMIM:620005
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
48,Xxxy Syndrome
Abnormal dental enamel morphology, Infertility, Type II diabetes mellitus, Hypoplasia of penis, I... ORPHA:96263
Microphthalmia With Limb Anomalies
Growth delay, Camptodactyly of 2nd-5th fingers, Anophthalmia, Microphthalmia, Postnatal growth re... OMIM:206920
Micro Syndrome
Hypoplasia of penis, Short stature, Clitoral hypoplasia, Hypoplastic labia minora, Delayed pubert... ORPHA:2510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Elevated hepatic transaminase, Microphthalmia OMIM:612379
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Pulmonic stenosis, Hypospadias, Left ventricular hypertrophy, Small for gestationa... OMIM:619148
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Impaired social interactions, Microphthalmia ORPHA:1942
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Hypospadias, Microphthalmia, Cryptorchidism, Small scrotum OMIM:616734
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst, Microphthalmia OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Growth delay, Microphthalmia, Decreased fertility OMIM:234050
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Lipomas of eyelids, Multiple lipomas, Bilateral microphthalm... ORPHA:2399
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Microphthalmia, Intrauterin... ORPHA:1915
Joubert Syndrome 14
Growth delay, Renal cyst, Microphthalmia OMIM:614424
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Hypothyroidism, Cardiomyopathy, Hydronephrosis, Diabetes mellitu... OMIM:222300
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Intrauterine growth retardation, Microphthalmia OMIM:300863
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Failure to thrive, Intrauterine growth retardation, Inguinal ... ORPHA:250989
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Labial hypoplasia, Atrial septal defect, Flexion contracture... OMIM:147791
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Small for gestational age, Short stature, Absence of subcutaneous fat, Micro... OMIM:601675
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Failure to thrive, Cirrhosis, Tetralogy of Fallot, Congenita... ORPHA:974
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Fanconi Anemia
Abnormal cardiac septum morphology, Absent testis, Decreased fertility in males, Aplasia/Hypoplas... ORPHA:84
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Supernumerary nipple, Short stature, Ventricular septal defect, ... OMIM:612530
Trisomy 18
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Cachexia, Camptodactyly of ... ORPHA:3380
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Atrial septal defect, Congenital diaphragmatic hernia, Micrope... OMIM:309801
Temtamy Syndrome
Microphthalmia ORPHA:1777
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Galloway-Mowat Syndrome 3
Failure to thrive, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Short stature,... OMIM:617729
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Hiatus hernia, Atrial septal defect, Hepatomegaly, Multicystic kidney dysplasi... ORPHA:2538
Martsolf Syndrome 1
Inguinal hernia, Micropenis, Short stature, Hypogonadotropic hypogonadism, Microphthalmia, Crypto... OMIM:212720
Monosomy 18P
Hypothyroidism, Short stature, Microphthalmia ORPHA:1598
Fanconi Anemia, Complementation Group D2
Annular pancreas, Micropenis, Hypergonadotropic hypogonadism, Small for gestational age, Short st... OMIM:227646
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Failure to thrive, Severe short stature, Postnatal growth re... OMIM:133540
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Multicystic kidney dysplasia, ... ORPHA:564
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Short stature, Anophthalmia, Anterior hypo... OMIM:147250
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia, Joint contracture of the hand, Camptodactyly OMIM:611961
Mosaic Trisomy 1
Renal cortical cysts, Congenital diaphragmatic hernia, Micropenis, Camptodactyly of finger, Penil... ORPHA:1692
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Short stature, Severe postnatal growth retardation, Hydronephrosis, Micropht... ORPHA:35173
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Microphthalmia ORPHA:404440
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Hypoplasia of the uterus, Female infertility, Irregular menstruation, Microphthalmia,... OMIM:110100
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Fryns Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Bicornuate uterus, Hypospadi... ORPHA:2059
Cohen Syndrome
Short stature, Ventricular septal defect, Mitral valve prolapse, Delayed puberty, Microphthalmia,... ORPHA:193
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Microphthalmia, Congenital diaphragmatic hernia, Abnormal adi... ORPHA:2092
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:163966
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy, Cirrhosis OMIM:613987
Fg Syndrome Type 1
Slender build, Atrial septal defect, Small pituitary gland, Inguinal hernia, Abnormal social beha... ORPHA:93932
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:139471
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, External genital hypoplasia, Inguinal hernia, Anophthalmia, ... ORPHA:2250
Heart And Brain Malformation Syndrome
Ventricular septal defect, Growth delay, Camptodactyly of finger, Microphthalmia OMIM:616920
Refsum Disease
Splenomegaly, Cardiomyopathy, Renal insufficiency, Microphthalmia ORPHA:773
Cousin Syndrome
Ambiguous genitalia, female, Joint contracture of the hand, Ambiguous genitalia, male, Camptodact... OMIM:260660
Microphthalmia, Lenz Type
Short stature, Hypospadias, Hydroureter, Camptodactyly of finger, Hydronephrosis, Microphthalmia,... ORPHA:568
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Rhizomelia, Hydronephrosis, Microphthalmia, Postnatal growth retardation OMIM:302960
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Tricuspid valve prolapse, Abnormal cardiac septum morphology, ... ORPHA:2556
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Mend Syndrome
Failure to thrive, Aortic valve stenosis, Abnormal social behavior, Short stature, Microphthalmia... ORPHA:401973
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffuse mesangial sclerosis, Sm... OMIM:251300
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Microphthalmia OMIM:167730
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Knee flexion contracture, Mic... ORPHA:435638
3Q29 Microdeletion Syndrome
Failure to thrive, Hypospadias, Subvalvular aortic stenosis, Horseshoe kidney, Microphthalmia ORPHA:65286
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Renal cyst, Renal hypoplasia, Rhizomelia, Omphalocele, Microphthalmia, Crypt... OMIM:616300
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Flexion contracture, Microphthalmia OMIM:615249
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect, Microphthalmia, Obesity, Aniridia ORPHA:251038
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Abnormal social behavior ORPHA:530983
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Meckel Syndrome 14
Single ventricle, Ambiguous genitalia, Polycystic kidney dysplasia, Hepatic fibrosis, Microphthal... OMIM:619879
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Flexion contracture of the 2nd toe, Flexion contracture of th... ORPHA:2712
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia, Hypogonadism OMIM:610651
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia ORPHA:370959
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Coloboma, Ocular, Autosomal Dominant
Growth delay, Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Camptodactyly, Microphthalmia, Growth delay, Cryptorchidism OMIM:614230
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Intrauterine growth retardation, Microphthalmia ORPHA:1352
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Histiocytoid Cardiomyopathy
Congenital aphakia, Failure to thrive, Hepatomegaly, Ventricular septal defect, Renal cyst, Micro... ORPHA:137675
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Ventricular septal defect, Umbilical hernia, Microphthalmia, I... ORPHA:567
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Atrial septal defect, Inguinal hernia, Male urethral meatus stenosis, Hypospadias... ORPHA:464738
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Ventricular septal defect, Cont... OMIM:300166
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Microphthalmia, Hypoplasia of penis, Hypospadias, Abnormality... ORPHA:2166
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Hypoplasia of penis, Microphthalmia ORPHA:899
Oculodentodigital Dysplasia, Autosomal Recessive
Failure to thrive, Short stature, Abnormal dental enamel morphology, Microphthalmia OMIM:257850
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Microphthalmia, Vaginal atresia, Cryptorchidism ORPHA:3301
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Oligosacchariduria, Microphthalmia ORPHA:163649
Holoprosencephaly
Abnormal pulmonary valve morphology, Microphthalmia, Hypoplasia of penis, Congenital diaphragmati... ORPHA:2162
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Teebi-Shaltout Syndrome
Aortic valve stenosis, Short stature, Ureteral stenosis, Camptodactyly, Ventricular septal defect... OMIM:272950
Townes-Brocks Syndrome
Abnormal cardiac septum morphology, Microphthalmia, Abnormal vagina morphology, Hypoplasia of pen... ORPHA:857
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Abnormal heart morphology, Short stature, Microphthalmia OMIM:618571
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cockayne Syndrome Type 3
Hepatomegaly, Flexion contracture, Mild postnatal growth retardation, Unilateral renal agenesis, ... ORPHA:90324
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Joint contracture of the hand, Bifid scrotum, Atrial septal de... OMIM:229850
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Abnormal renal physiology, Proteinuria, Microp... ORPHA:191
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Dopa-Responsive Dystonia
Abnormal social behavior, Urinary incontinence ORPHA:255
Frontofacionasal Dysplasia
Short stature, Microphthalmia ORPHA:1791
Charge Syndrome
Abnormal cardiac septum morphology, Labial hypoplasia, Intrauterine growth retardation, Micropeni... ORPHA:138
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia OMIM:169550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Short st... ORPHA:508498
Joubert Syndrome 2
Failure to thrive, Nephronophthisis, Renal cyst, Renal insufficiency, Hypoplastic male external g... OMIM:608091
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Ambiguous genitalia, female, External genital hypoplasia, Amb... OMIM:249000
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Primary amenorrhea, Micr... OMIM:603457
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Degcags Syndrome
Hiatus hernia, Abnormal renal medulla morphology, Hepatomegaly, Cholestasis, Ventricular septal d... OMIM:619488
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Abnormal fallopian tube morphology, Femoral hernia, Microphthalmia... ORPHA:3412
Dubowitz Syndrome
Inguinal hernia, Short stature, Hypospadias, Hypoplasia of the iris, Microphthalmia, Postnatal gr... OMIM:223370
Duane-Radial Ray Syndrome
Atrial septal defect, Crossed fused renal ectopia, Ventricular septal defect, Renal hypoplasia, H... OMIM:607323
Bartsocas-Papas Syndrome 1
Microphthalmia, Absent external genitalia, Bicornuate uterus, Micropenis, Flexion contracture, In... OMIM:263650
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:214800
Otodental Syndrome
Lens coloboma, Abnormal dental enamel morphology, Microphthalmia ORPHA:2791
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Short stature, Camptodactyly of finger, Abnormality of the... ORPHA:251014
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Rhizomelia, Microphthalmia OMIM:615877
Pelvis-Shoulder Dysplasia
Short stature, Neonatal short-trunk short stature, Camptodactyly of finger, Mesomelic/rhizomelic ... ORPHA:2839
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Inguinal hernia, Micropenis, Ventricular septal defect, Patent foramen oval... OMIM:613884
Acro-Renal-Ocular Syndrome
Bladder diverticulum, Crossed fused renal ectopia, Tetralogy of Fallot, Horseshoe kidney, Optic d... ORPHA:959
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Small for gestational age, Short stature, Microphthalmia, Cryptorchidism, Hypog... OMIM:268400
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Camptodactyly of finger, Microphthalmia ORPHA:284160
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Roberts Syndrome
Severe intrauterine growth retardation, Wrist flexion contracture, Long penis, Polycystic kidney ... ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Dilated cardio... OMIM:253800
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Myhre Syndrome
Atrial septal defect, Aortic valve stenosis, Small for gestational age, Short stature, Birth leng... OMIM:139210
Subaortic Stenosis--Short Stature Syndrome
Membranous subvalvular aortic stenosis, Growth delay, Subvalvular aortic stenosis, Microphthalmia OMIM:271960
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Intrauterine growth retardation, Short stature, Hypospadias, Ventricular septal... OMIM:616975
Pallister-Hall Syndrome
Central adrenal insufficiency, Atrioventricular canal defect, Ventricular septal defect, Ambiguou... ORPHA:672
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Severe short stature, Short stature, Small for gestational age, Microphthalmia OMIM:127000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Ankle flexion contracture, Severe short stature, Severe failure to t... ORPHA:468631
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Trichothiodystrophy
Multiple joint contractures, Impaired social reciprocity, Gonadal dysgenesis, Enamel hypoplasia, ... ORPHA:33364
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia, Aplasia of the uterus, G... OMIM:614083
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Intrauterine growth retardation, Microphthalmia OMIM:613451
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Short stature, Multicystic kidney dysplasia, Hypothyroidism, Ambiguous geni... ORPHA:1052
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Frontorhiny
Camptodactyly of finger, Microphthalmia, Hypopituitarism, Pericallosal lipoma, Diabetes insipidus ORPHA:391474
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hematuria, Proteinuria, Umbilical hernia, Mi... ORPHA:534
Renpenning Syndrome 1
Atrial septal defect, Joint contracture of the hand, Short stature, Hypospadias, Tetralogy of Fal... OMIM:309500
Yunis-Varon Syndrome
Atrial septal defect, Severe failure to thrive, Micropenis, Short stature, Hypospadias, Tetralogy... ORPHA:3472
Fontaine Progeroid Syndrome
Absent nipple, Reduced subcutaneous adipose tissue, Bicuspid aortic valve, Failure to thrive, Mic... OMIM:612289
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Momo Syndrome
Large for gestational age, Obesity, Bilateral microphthalmos, Short stature ORPHA:2563
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Joint contracture of the hand, Aminoaciduria, Short stature, Proximal renal tu... OMIM:309000
Stromme Syndrome
Optic nerve hypoplasia, Bilateral renal hypoplasia, Accessory spleen, Hydronephrosis, Microphthalmia OMIM:243605
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Abnormal circulating follicle-stimulating hormone concentration, Congenital hypopar... ORPHA:93325
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Aicardi Syndrome
Lipoma, Precocious puberty, Hiatus hernia, Hepatoblastoma, Microphthalmia, Postnatal growth retar... OMIM:304050
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Failure to thrive, Hypoplasia of penis, Hypoplasia of the thym... ORPHA:861
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal soci... ORPHA:177907
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Mi... OMIM:606519
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Short stature OMIM:300322
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Ventricular septal defect, Abnormal heart morphology, Overfriendliness,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Ventricular septal defect, Abnormal heart morphology, Overfriendliness,... ORPHA:363958
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Short stature,... OMIM:610829
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Uterus didelphys, Septate vagina, Tetralogy of Fallot, Absent gallbladder, Complete a... OMIM:617925
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Ankle flexion contracture, Atrial septal defect, Bicornua... OMIM:268300
Monosomy 9Q22.3
Large for gestational age, Umbilical hernia, Microphthalmia, Ovarian fibroma, Cardiac fibroma ORPHA:77301
Incontinentia Pigmenti
Supernumerary nipple, Short stature, Hypoplasia of the fovea, Hypoplastic nipples, Breast aplasia... OMIM:308300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Intrauterine growth retardation, Microphthalmia ORPHA:364577
Aicardi Syndrome
Precocious puberty, Hiatus hernia, Hepatoblastoma, Multiple lipomas, Delayed puberty, Microphthalmia ORPHA:50
Fraser Syndrome
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Microphthal... ORPHA:2052
Hallermann-Streiff Syndrome
Proportionate short stature, Cryptorchidism, Small for gestational age, Microphthalmia OMIM:234100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Inguinal hernia, Micropenis, Bifid scrotum, Hypospadias, Clitoral hypoplasi... OMIM:609945
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis... OMIM:236680
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Hypoplastic male external genitalia, Microphthalmia, Cryptor... OMIM:236670
Tetraamelia Syndrome 1
Urethral atresia, Absent external genitalia, Congenital diaphragmatic hernia, Hypoplasia of the f... OMIM:273395
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Congenital diaphragmatic hernia, Microphthalmia ORPHA:268249
Steinfeld Syndrome
Abnormal heart morphology, Absent gallbladder, Microphthalmia OMIM:184705
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia With Limb Anomalies
Failure to thrive, Short stature, Camptodactyly of 2nd-5th fingers, True anophthalmia, Horseshoe ... ORPHA:1106
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Imperforate hymen, Aortic valv... OMIM:100300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Abnormal social behavior, Ventricular septal ... ORPHA:904
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Hallermann-Streiff Syndrome
Abdominal situs inversus, Hypothyroidism, Microphthalmia, Proportionate short stature, Cryptorchi... ORPHA:2108
Incontinentia Pigmenti
Supernumerary nipple, Short stature, Camptodactyly of finger, Umbilical hernia, Microphthalmia, A... ORPHA:464
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Phace Syndrome
Abnormal cardiac septum morphology, Optic nerve hypoplasia, Ectopic thyroid, Tetralogy of Fallot,... ORPHA:42775
Focal Dermal Hypoplasia
Labial hypoplasia, Hiatus hernia, Supernumerary nipple, Congenital diaphragmatic hernia, Inguinal... OMIM:305600
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Omphalocele, Microphthalmia, Overriding aorta ORPHA:3186
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Bifid uter... OMIM:256520
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Scarring alopecia of scalp, Microphthalmia OMIM:618727
Monosomy 9P
Congenital diaphragmatic hernia, Hypospadias, Ambiguous genitalia, Ureteropelvic junction obstruc... ORPHA:261112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Congenital contracture, Microphthalmia OMIM:613150
Oculodentodigital Dysplasia
Atrial septal defect, Joint contracture of the 5th finger, Enamel hypoplasia, Microphthalmia, Neu... OMIM:164200
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Failure to thrive, Cryptorchidism, Abnormality of the hypothalamus-... OMIM:607932
Oculo-Palato-Cerebral Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:2714
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Microphthalmia, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma OMIM:109400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Failure to thrive, Ventricular septal defect, Ventricular septal hypertrophy, Microphthalmia, Int... OMIM:608670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Severe short stature, Microphthalmia ORPHA:85167
Pierson Syndrome
Nephrotic syndrome, Microphthalmia, Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of th... OMIM:609049
Tuberous Sclerosis Complex
Pituitary adenoma, Chronic kidney disease, Parathyroid adenoma, Abnormal social behavior, Carcino... ORPHA:805
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Severe short stature, Cellulitis, Anophthalmia, Microphthalmia, Panniculitis ORPHA:2526
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Cholecystitis, Urinary incontinence ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Cholecystitis, Urinary incontinence ORPHA:309263
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Microphthalmia, Impaired social interaction... ORPHA:2152
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Growth delay, Microphthalmia ORPHA:2612
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Cholecystitis, Neoplasm of the gallbladder, Urinary incontinence ORPHA:309271
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Microphthalmia ORPHA:1236
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Short stature, Hypospadias, Abnormality of the Leydig cells, Camptodactyly, E... ORPHA:3063
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Norrie Disease
Failure to thrive, Microphthalmia, Uterine rupture, Cachexia, Aplasia/Hypoplasia of the lens, Ere... ORPHA:649
Proboscis Lateralis
External genital hypoplasia, Unilateral renal agenesis, Optic nerve hypoplasia, Anophthalmia, Ure... ORPHA:141099
Witteveen-Kolk Syndrome
Growth delay, Type II diabetes mellitus, Decreased response to growth hormone stimulation test, M... OMIM:613406
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Microphthalmia, Abnormal heart morphology, Chordee, Flexion contracture, Tetral... ORPHA:261537
Childhood Absence Epilepsy
Abnormal social behavior, Urinary incontinence ORPHA:64280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia OMIM:612109
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Fraser Syndrome 1
Bicornuate uterus, Micropenis, Hypospadias, Anophthalmia, Renal hypoplasia, Abnormality of the th... OMIM:219000
8Q24.3 Microdeletion Syndrome
Intrauterine growth retardation, Exocrine pancreatic insufficiency, Poor eye contact, Inguinal he... ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Ventricular septal defect, Microphthalmia, Duplication of renal pelvis, Abnorma... ORPHA:261552
Branchiooculofacial Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Supernumerary nipple, Hypospadias,... OMIM:113620
Mowat-Wilson Syndrome
Atrial septal defect, Supernumerary nipple, Bifid scrotum, Pulmonic stenosis, Hypospadias, Short ... OMIM:235730
Holoprosencephaly 1
Micropenis, Short stature, Single ventricle, Adrenal hypoplasia, Microphthalmia, Diabetes insipidus OMIM:236100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Pericallosal lipoma, Microphthalmia ORPHA:306542
Monosomy 13Q14
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1587
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Uraciluria, Macular hypoplasia ORPHA:1675
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology, Bilateral microphthalmos, Abnormal heart morph... OMIM:154500
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria, Microphthalmia OMIM:601552
Isolated Arrhinia
Microphthalmia ORPHA:1134
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Microphthalmia OMIM:229400
Neuroocular Syndrome
Short stature, Hypoplasia of the fovea, Patent foramen ovale, Umbilical hernia, Microphthalmia, L... OMIM:619539
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos, Omphalocele OMIM:610828
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Hepatic failure, Abnormal social behavior, Hepatosplenomegaly, Jaundi... ORPHA:646
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Joint contracture of the hand, Hypospadias, Hydroureter, Anophthalmia, Cam... OMIM:309800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Holoprosencephaly 2
Single ventricle, Adrenal hypoplasia, Microphthalmia, Anterior pituitary agenesis, Diabetes insip... OMIM:157170
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect... ORPHA:488618
Craniofacial Microsomia
Multicystic kidney dysplasia, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Urete... OMIM:164210
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Atrial septal defect, Patent foramen ovale OMIM:617044

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 Tkt

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 Tkt.

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

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MGI Allele Allele Type Produced
Tkttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tktem1(IMPC)H Exon Deletion Mice
Tkttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tkttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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