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Gene: Lhx2 MGI:96785

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
LIM homeobox protein 2
Synonyms:
apterous,  LH2A,  Lh-2,  ap

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Lhx2 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 Lhx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... ORPHA:163596
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:295
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thromboc... ORPHA:101028
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Abnormal macu... ORPHA:87876
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Alg8-Cdg
Elevated hepatic transaminase, Cataract, Premature birth, Edema, Optic atrophy, Hydrops fetalis, ... ORPHA:79325
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Iris coloboma ORPHA:2185
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Hydrops fetal... OMIM:269920
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dys... ORPHA:899
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hydrops fetalis, Polyhydramnios, Hepatomegaly ORPHA:2204
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymphocyte... OMIM:256550
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Hydrops fetalis, Pigmentary retinopathy, Astigmatism, Ascites, I... OMIM:253250
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Macular degeneration, Pallor OMIM:610381
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Pallor OMIM:609021
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum OMIM:164180
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites, Iris hypopigmentation ORPHA:834
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abno... ORPHA:85212
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus ... ORPHA:77298
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Hepatomegaly OMIM:608540
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... ORPHA:292
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Agenesis of corpus callosum, Optic atrophy OMIM:274270
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly OMIM:613561
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hydrops fetalis, Fetal akinesia sequence, Developmental cataract OMIM:618815
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Hydrops fetalis, Apl... ORPHA:3378
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Synophrys, Low anterior hairline, Long eyelashes, Thick eyebrow ORPHA:411986
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Fetal pericardial ... OMIM:617021
Glycogen Storage Disease Iv
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... OMIM:232500
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Anencephaly 2
Anophthalmia OMIM:619452
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Hydrolethalus
Anophthalmia, Premature birth, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia, Agenes... ORPHA:2189
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... ORPHA:288
Dermatitis, Atopic
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin OMIM:603165
Farber Disease
Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ... ORPHA:333
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Nephronophthisis
Anemia ORPHA:655
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Coloboma, Portal fibro... OMIM:619111
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Colpocephaly, Astigmatism, Pallor, Neutropenia, Microphthalmia, Agenesis ... OMIM:609053
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Pallor, Thrombocytopenia ORPHA:49827
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... OMIM:231100
Trisomy 1Q
Anophthalmia, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Hydrops fetalis, Agen... ORPHA:261344
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Ascites ORPHA:90308
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Anhydramnios, Microph... OMIM:613885
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu... OMIM:194380
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Congenital Toxoplasmosis
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Premature birth... ORPHA:858
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Microph... OMIM:610125
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites OMIM:619433
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern ORPHA:2717
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Indomethacin Embryofetopathy
Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Hydrops fetalis, Anemia ORPHA:3405
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy, Pallor OMIM:613341
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma, Spina bifida ORPHA:1104
Solitary Median Maxillary Central Incisor
Anophthalmia, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia OMIM:147250
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Cutis laxa, Coloboma, ... OMIM:612379
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Microphthalmia, Agenesis ... OMIM:613153
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callos... ORPHA:268249
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Petechiae, Premature birth, Polyhydramnios, Nonimmune hyd... OMIM:608013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Pallor, Hyp... OMIM:600462
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... ORPHA:2526
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Hypo... OMIM:206900
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Meckel Syndrome
Accessory spleen, Encephalocele, Cataract, Anophthalmia, Abnormal chorioretinal morphology, Scler... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the... OMIM:253280
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Anemia OMIM:618839
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Blue irides, Hypopigmentation of the fundus OMIM:606574
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Cataract, Optic atrophy, Pigmentary re... ORPHA:90321
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Abnormal retinal morphology ORPHA:2786
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Fumarase Deficiency
Bilateral fetal pyelectasis, Polyhydramnios, Conjunctival icterus, Intrahepatic cholestasis, Opti... OMIM:606812
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy,... ORPHA:324737
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... ORPHA:367
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Partial agenesis of the corpus callosum, Optic atrophy OMIM:607196
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Aplasia... ORPHA:1318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Mosaic Trisomy 9
Corneal opacity, Spina bifida, Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery... ORPHA:99776
Cerebrooculonasal Syndrome
Sparse eyebrow, Anophthalmia, Sparse eyelashes ORPHA:66625
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Conjunctivitis, Developmental cataract ORPHA:90322
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Hydrocephalus, Jaundice, Optic atrophy,... ORPHA:79282
Gm1 Gangliosidosis
Corneal opacity, Premature birth, Abnormal retinal vascular morphology, Splenomegaly, Optic atrop... ORPHA:354
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia OMIM:615877
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... OMIM:615219
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy, Pallor OMIM:612989
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Abnormal retinal vascular morphology... ORPHA:33226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Agenesis of corpus cal... OMIM:615249
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Premature birth, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pa... ORPHA:90051
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Edema, Hydrocephalus, Optic atr... ORPHA:93400
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Opacification of the ... OMIM:256540
Frontonasal Dysplasia 1
Cataract, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphthalmia, Agene... OMIM:136760
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Pallor, Rod-cone dystrophy, Attenu... OMIM:613464
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Cataract, Hepatomegaly, Pancreatic ... ORPHA:699
Mucopolysaccharidosis Type 7
Corneal opacity, Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormality of the hairline OMIM:248450
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt... ORPHA:370959
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Familial Benign Copper Deficiency
Anemia, Early balding, Aplasia/Hypoplasia of the fovea ORPHA:1551
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Cherry red spot of the macula OMIM:230500
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... ORPHA:86839
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly ORPHA:99931
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276575
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Hydrocephalus, Optic atrophy, Pallor, Microphthalmia, Megalocornea... ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Anemia, Oligohydramnios OMIM:620135
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Pleural effusion, Ascites OMIM:616897
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Hydrops fetalis, Developmental cataract, Single umbilical artery, I... ORPHA:1865
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites, Increased p... ORPHA:1041
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Agenesis of corpus callosum OMIM:614583
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Hyd... OMIM:609015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microcornea, Sing... ORPHA:3412
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Joubert Syndrome 23
Coloboma, Dysplastic corpus callosum OMIM:616490
Achondrogenesis, Type Ii
Polyhydramnios, Edema, Abnormally large globe, Hydrops fetalis, Stillbirth OMIM:200610
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Diamond-Blackfan Anemia
Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, D... ORPHA:124
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Holoprosencephaly
Encephalocele, Anophthalmia, Abnormality of the spleen, Hydrocephalus, Optic atrophy, Spinal dysr... ORPHA:2162
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Åland Islands Eye Disease
Hypoplasia of the fovea, Astigmatism, Hypopigmentation of the fundus ORPHA:178333
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Pallor ORPHA:3386
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Jaundice, L... ORPHA:20
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Corneal opacity, Splenomegaly, Hydrocephalus, Hydrops fetalis OMIM:253220
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal... ORPHA:91495
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Abnormal spleen morphology ORPHA:2470
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Gaucher Disease
Hepatomegaly, Pancytopenia, Corneal opacity, Splenomegaly, Hydrocephalus, Abnormal macular morpho... ORPHA:355
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Chorioretinal hypopigmentation OMIM:619165
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Microphthalmia, Anophthalmia OMIM:206920
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Keratitis, Retinal vascular ... OMIM:308300
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... ORPHA:2556
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Edema, Pericardial effusi... OMIM:212065
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Aland Island Eye Disease
Hypoplasia of the fovea, Astigmatism OMIM:300600
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Hepatic cysts, Pancreatic cysts, Pallor, Rod-cone dystrophy, ... OMIM:616307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepatic steatosis, Bree... OMIM:300868
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Pallor, Rod-cone dystrophy, Mixed astigmatism, Attenuati... OMIM:617023
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Nonimmune hydrops fetalis, Bull's eye maculopathy, Fetal pleural effusion OMIM:620167
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Abnormality of the liver, Hydrops fetalis, Hepatocellular carcinoma ORPHA:88618
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Retinal dystrophy, Hydrops fetalis, Lateral ventricle dilatation, Hepatic fi... OMIM:263520
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... OMIM:616843
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... OMIM:619487
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... OMIM:617406
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Thromboc... ORPHA:77261
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology, Spina bifida, Thrombocytopenia ORPHA:93323
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Hydrocephalus, Annular pancreas, Reticulocytopenia, Anemia, Neutrope... OMIM:227646
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Microphthalmia, Agenesis of corpus callosum ORPHA:2538
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis ORPHA:134
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Abnormal vitreous humor morphology, Abnormal optic nerve morphol... ORPHA:1101
Proboscis Lateralis
Cataract, Corneal opacity, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Microcornea... ORPHA:141099
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Optic disc pallor, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Opti... OMIM:611490
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Retinal coloboma, Occipital meningocele OMIM:616546
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Conjunctivitis, Chylo... OMIM:153400
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Iris coloboma OMIM:605627
Fibrochondrogenesis 1
Megalocornea, Stillbirth, Hydrops fetalis OMIM:228520
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea OMIM:615312
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Decreased fetal movement ORPHA:264200
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hydrops fetalis, Abnormal placenta morphology, Hepatosplenomegaly ORPHA:79255
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hypoplastic spleen OMIM:601186
Hermansky-Pudlak Syndrome 6
Ocular albinism, Absent foveal reflex, Macular hypoplasia, Ecchymosis, Abnormal platelet granules OMIM:614075
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma ORPHA:2250
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Retinal atrophy, Optic ne... OMIM:236670
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea OMIM:113750
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... ORPHA:3260
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Jacobsen Syndrome
Hydrocephalus, Optic atrophy, Microcornea, Macular hypoplasia, Holoprosencephaly, Chorioretinal c... OMIM:147791
Yunis-Varon Syndrome
Cataract, Redundant neck skin, Sclerocornea, Polyhydramnios, Hydrocephalus, Bilateral microphthal... ORPHA:3472
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Splenomegaly, ... ORPHA:79277
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Biliary c... OMIM:613610
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:94080
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Th... OMIM:600901
Joubert Syndrome 22
Microphthalmia, Coloboma, Retinal dysplasia OMIM:615665
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Coloboma, Redundant neck skin, Peters anomaly OMIM:618652
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Hydrocephalus, Hol... OMIM:610829
Dravet Syndrome
Pallor ORPHA:33069
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Degcags Syndrome
Hepatomegaly, Pancytopenia, Premature birth, Polyhydramnios, Congenital hypoplastic anemia, Echog... OMIM:619488
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Th... OMIM:227650
Hepatoerythropoietic Porphyria
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Keratoconjunctivitis, Abnormali... ORPHA:95159
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Blue irides, Depigmented fundus, Iris transillumination defect, Abnormal... ORPHA:352731
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy, Exencephaly OMIM:614464
Diamond-Blackfan Anemia 1
Macrocytic anemia, Premature birth, Congenital hypoplastic anemia, Reticulocytopenia, Primary con... OMIM:105650
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla,... OMIM:615636
Focal Dermal Hypoplasia
Anophthalmia, Ectopia lentis, Hydrocephalus, Myelomeningocele, Optic atrophy, Chorioretinal colob... OMIM:305600
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Hepatomegaly, Elevated hepatic transam... OMIM:216360
Vici Syndrome
Cataract, Macular atrophy, Ocular albinism, Developmental cataract, Leukopenia, T lymphocytopenia... OMIM:242840
Alg9-Cdg
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Pericardial effusion, Hydrops... ORPHA:79328
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Nonimmune hydrops fetalis OMIM:618052
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... OMIM:620369
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Dermal translucency OMIM:137940
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Pituitary Apoplexy
Normochromic anemia, Pallor, Mydriasis ORPHA:95613
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Blue irides, Hypopigmentation of the fundus OMIM:203200
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Th... OMIM:227645
Joubert Syndrome 16
Encephalocele, Coloboma, Retinal dystrophy OMIM:614465
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Neck pterygia, Antecubital pterygium, Hydrops fetalis, Popliteal pteryg... OMIM:265000
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis ORPHA:79329
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Ascites, Chylothorax, Lymphopenia ORPHA:2136
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia, Edema ORPHA:329971
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Charge Syndrome
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Optic atrophy, Holoprosencephaly, Chorioretina... ORPHA:138
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Retinal capillary hemangioma, Hypertensive retinopathy, Pallor ORPHA:29072
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia OMIM:613792
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Pleural effusion,... OMIM:235510
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, A... OMIM:617667
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Retinopathy of prematurity, Fetal pericardial effusion, Si... OMIM:620244
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Optic ner... OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Hydrocephalus, Pallor, Optic nerve compression, Anemia ORPHA:667
Blomstrand Lethal Chondrodysplasia
Cataract, Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Iris transillumination defect, Microphthalmia OMIM:617306
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hep... ORPHA:646
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Charge Syndrome
Cataract, Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Coloboma, Retinal coloboma, Ho... OMIM:214800
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Developmental cataract... OMIM:300166
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism OMIM:614073
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism, Iris transillumination ... OMIM:614074
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Edema, Leukocytosis, Pleural empyema, Pallor, Pancreatitis, Thrombocytopenia, G... ORPHA:544482
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Iris transillumination defect, Hypoplasia of the fovea, Ocular a... OMIM:619172
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Occipital encephaloc... OMIM:267750
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Pallor OMIM:617675
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... ORPHA:2399
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Fraser Syndrome 1
Encephalocele, Anophthalmia, Corneal opacity, Myelomeningocele, Bilateral microphthalmos, Hydroce... OMIM:219000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Cataract, Agenesis of corpus callosum, Hydrops fetalis ORPHA:93271
Esophageal Atresia
Coloboma, Pallor, Polyhydramnios, Absence of stomach bubble on fetal sonography ORPHA:1199
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:276621
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Optic nerve misrou... ORPHA:79435
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Coloboma, Microphthalmia OMIM:607932
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Alternating Hemiplegia Of Childhood
Pallor, Dehydration, Mydriasis ORPHA:2131
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Depigmented fundus OMIM:300500
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea OMIM:618744
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pleural effusion... OMIM:265380
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Edema, Polyhydramnios, Fetal distress, Pericardial effusion, Abnorm... ORPHA:51608
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... OMIM:216900
Childhood Absence Epilepsy
Pallor ORPHA:64280
Mend Syndrome
Redundant neck skin, Cataract, Hydrocephalus, Macular hypoplasia, Anterior polar cataract OMIM:300960
Branchiooculofacial Syndrome
Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:113620
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Blue irides, Ocular albinism, Iri... OMIM:614077
Microphthalmia With Limb Anomalies
Microphthalmia, Hydrocephalus, Optic atrophy, True anophthalmia ORPHA:1106
Fraser Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern ORPHA:2052
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Blue irides, Iris transillumination... ORPHA:79432
Prolactinoma
Pallor ORPHA:2965
Yunis-Varon Syndrome
Redundant neck skin, Cataract, Premature birth, Sclerocornea, Polyhydramnios, Hydrops fetalis, Ag... OMIM:216340
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Prominent corneal nerve fibers ORPHA:653
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... ORPHA:959
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Abnormal optic nerve morphology, Ir... ORPHA:79434
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Iris hypopigmentation ORPHA:79431
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Hydrocephalus, Limbal dermoid, Microphthalmia, Agenesis of... OMIM:164210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Coloboma, Hepatic fibrosis, Neonatal death, Intrahepa... OMIM:619534
Microphthalmia, Syndromic 1
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... OMIM:309800
Dihydropyrimidine Dehydrogenase Deficiency
Microcornea, Astigmatism, Macular hypoplasia ORPHA:1675
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Astigmatism, Blue irides, Ocular albinism OMIM:203100
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Polyhydramnios, Hydrocephalus, Frontal encephalocele... OMIM:268300
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Low 5-minute APGAR score, Pallor, Low 1-minute APGAR score ORPHA:99125

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 Lhx2

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 Lhx2.

No publications found that use IMPC mice or data for Lhx2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Lhx2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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