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

IMPC Data Collections

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

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.

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
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom... OMIM:619462
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Pallor, Splenomegaly, Abnormal hemoglobin, Polyhydramnios, Hepatomegaly, Hydroce... ORPHA:163596
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:295
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Hydrops fetali... ORPHA:101028
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus callosum, Microph... ORPHA:139471
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Premature birth ORPHA:2123
Sialidosis Type 2
Abnormal macular morphology, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly, Hydrops fetali... ORPHA:87876
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Alg8-Cdg
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Premature skin ... ORPHA:79325
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Colpocephaly, Hydrocephalus, Iris coloboma ORPHA:2185
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... ORPHA:846
Walker-Warburg Syndrome
Optic atrophy, Iris coloboma, Cataract, Microcornea, Abnormal optic nerve morphology, Anophthalmi... ORPHA:899
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Hydrops fetalis, Prem... OMIM:269920
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy... OMIM:266200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Neuraminidase Deficiency
Facial edema, Cataract, Cherry red spot of the macula, Ascites, Splenomegaly, Hydrops fetalis, He... OMIM:256550
Mulibrey Nanism
Pigmentary retinopathy, Ascites, Astigmatism, Hepatomegaly, Hydrops fetalis, Iris coloboma, Corne... OMIM:253250
Cone-Rod Dystrophy 11
Macular degeneration, Bull's eye maculopathy, Pallor, Cone/cone-rod dystrophy, Macular atrophy OMIM:610381
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Pallor, Cone/cone-rod dystrophy, Optic disc pallor OMIM:609021
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum OMIM:164180
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Free Sialic Acid Storage Disease
Iris hypopigmentation, Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:834
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Neonatal death, ... ORPHA:85212
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Sclerocornea, Holoprose... ORPHA:77298
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Abnormality of the amniotic fluid, Splenomegaly, Nonimmune hydrops fetalis OMIM:608540
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Congenital Enterovirus Infection
Hepatic failure, Fetal ascites, Hepatitis, Fetal distress, Cholestasis, Leukopenia, Leukocytosis,... ORPHA:292
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor OMIM:613561
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy, Coloboma, Agenesis of corpus callosum OMIM:274270
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis, Developmental cataract, Corneal opacity OMIM:618815
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Cataract 21, Multiple Types
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Macular hypoplasia... OMIM:610202
Congenital Syphilis
Optic atrophy, Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplanta... ORPHA:499009
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Trisomy 13
Optic atrophy, Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular ... ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Thick eyebrow, Anophthalmia, Low anterior hairline, Synophrys ORPHA:411986
Anencephaly 2
Anophthalmia OMIM:619452
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decr... OMIM:617021
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hydrolethalus
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Polyhydramnios, Anencep... ORPHA:2189
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... ORPHA:288
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Oligohydramnios, Nonimmu... OMIM:231100
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Dermatitis, Atopic
Keratoconus, Cataract, Dry skin, Pallor, Facial erythema, Conjunctivitis OMIM:603165
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... ORPHA:231222
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Glycogen Storage Disease Iv
Hepatic failure, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased fetal movement, Cirr... OMIM:232500
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Farber Disease
Hepatic fibrosis, Hepatic failure, Macular degeneration, Elevated circulating hepatic transaminas... ORPHA:333
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatomegaly, Hydrops fetalis OMIM:619433
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Pallor, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy ORPHA:49827
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Nephronophthisis
Anemia ORPHA:655
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Chori... OMIM:619111
Fanconi Anemia, Complementation Group I
Pallor, Astigmatism, Agenesis of corpus callosum, Colpocephaly, Neutropenia, Microphthalmia, Opti... OMIM:609053
Trisomy 1Q
Increased nuchal translucency, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Polyhydr... ORPHA:261344
Klippel-Trénaunay Syndrome
Microcytic anemia, Ascites, Hepatomegaly, Hydrops fetalis, Edema ORPHA:90308
Congenital Heart Block
Oligohydramnios, Pallor, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Peric... ORPHA:60041
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Anhydramnios, Microphthalmia, Pericardial e... OMIM:613885
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... OMIM:194380
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development... ORPHA:324416
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Retinal dystrophy, Optic nerve hyp... OMIM:610125
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... ORPHA:858
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal optic nerve morphology, Lymphedema, Leukocytosis, Splenomegaly, Pallor, ... ORPHA:3226
Oculotrichoanal Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2717
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Polyhydramnios, Single umbilical artery ORPHA:3405
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly, Neonatal death OMIM:273680
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia, Spina bifida ORPHA:1104
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Hepatomegaly, Hydrops fetalis,... OMIM:608776
Solitary Median Maxillary Central Incisor
Anophthalmia, Coloboma, Microphthalmia, Cyclopia, Holoprosencephaly OMIM:147250
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Microcytic anem... OMIM:612379
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer... OMIM:600462
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Agenesis of corpus callosum, Coloboma, Retinal detachment, Corneal opacity, Hydrocephal... OMIM:613153
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula ORPHA:33445
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Cataract, Chylothorax, Abnormal optic nerve morphology, Skin ulcer, Lymphedema, Ed... ORPHA:2526
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Coloboma, Hypothalamic ... OMIM:206900
Gaucher Disease, Perinatal Lethal
Hepatic failure, Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramni... OMIM:608013
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Hydrops fetal... ORPHA:268249
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Cataract, Microspherophakia, Elevated circulating aspartate amino... OMIM:620609
Evans Syndrome
Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Meckel Syndrome
Accessory spleen, Optic atrophy, Microcornea, Cataract, Oligohydramnios, Anophthalmia, Aplasia/Hy... ORPHA:564
Srd5A3-Cdg
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Optic disc hypo... ORPHA:324737
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Pallor, Hypoplasia of the retina, Retinal degeneration, Re... OMIM:253280
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth OMIM:618835
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Abnormal retinal morphology ORPHA:2786
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, C... ORPHA:90321
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth OMIM:618839
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
Fumarase Deficiency
Optic atrophy, Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Polycythemia, Asc... OMIM:606812
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Retinal arterial to... OMIM:620371
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia ORPHA:1617
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Microcephaly, Amish Type
Hypoplasia of the fovea, Optic atrophy, Partial agenesis of the corpus callosum, Hepatomegaly OMIM:607196
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hypoplasia, Colpoceph... OMIM:615219
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Campomelia, Cumming Type
Lymphedema, Oligohydramnios, Aplasia/Hypoplasia affecting the eye, Hydrops fetalis, Hepatomegaly,... ORPHA:1318
Cockayne Syndrome Type 2
Hepatomegaly, Conjunctivitis, Anophthalmia, Developmental cataract ORPHA:90322
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Cerebrooculonasal Syndrome
Sparse eyebrow, Anophthalmia, Sparse eyelashes ORPHA:66625
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepa... ORPHA:290
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Mosaic Trisomy 9
Oligohydramnios, Polyhydramnios, Single umbilical artery, Spina bifida, Corneal opacity, Micropht... ORPHA:99776
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea OMIM:615877
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Gm1 Gangliosidosis
Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Splenomegaly, Abnormal retinal ... ORPHA:354
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Pallor OMIM:612989
Waldenström Macroglobulinemia
Normocytic anemia, Periorbital edema, Retinal hemorrhage, Splenomegaly, Pallor, Pleural effusion,... ORPHA:33226
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Dehydration, Retinal ... ORPHA:79282
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Agenesis of corpus callosum, Coloboma, Hy... OMIM:615249
Congenital Sialidosis Type 2
Optic atrophy, Cataract, Cherry red spot of the macula, Ascites, Hepatosplenomegaly, Petechiae, H... ORPHA:93400
Retinitis Pigmentosa 51
Macular degeneration, Attenuation of retinal blood vessels, Pallor, Bone spicule pigmentation of ... OMIM:613464
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Hepatic fibrosis, Periorbital edema, Conjunctivitis, Cholestasis, Elevated circulating ... OMIM:620376
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Splenomegaly, Corneal opacity, Hydrops fetalis ORPHA:584
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Caesarian ... ORPHA:90051
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Galactosialidosis
Cherry red spot of the macula, Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival telang... OMIM:256540
Frontonasal Dysplasia 1
Cataract, Cranium bifidum occultum, Anterior basal encephalocele, Agenesis of corpus callosum, Co... OMIM:136760
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Pearson Syndrome
Cataract, Pigmentary retinopathy, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:699
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Occipital encephalocele, Megalocornea, Agen... ORPHA:370959
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... ORPHA:86839
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Dysplastic corpus callosum, Oligohydramnios OMIM:620135
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Familial Benign Copper Deficiency
Anemia, Early balding, Aplasia/Hypoplasia of the fovea ORPHA:1551
Manitoba Oculotrichoanal Syndrome
Abnormality of the hairline, Anophthalmia, Microphthalmia OMIM:248450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia ORPHA:276575
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Congenital aphakia, Pallor, Agenesis of corpus callosum, Pulmonary e... ORPHA:137675
Aland Island Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus, Astigmatism OMIM:300600
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis OMIM:616897
Gm1-Gangliosidosis, Type I
Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Hydrops fetalis OMIM:230500
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276556
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma ORPHA:2611
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Pterygium, Encephalocele, Single umbilical artery, Developmental c... ORPHA:1865
Åland Islands Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus, Astigmatism ORPHA:178333
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Agenesis of corpus callosum OMIM:614583
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Vacterl With Hydrocephalus
Microcornea, Abnormal optic nerve morphology, Anophthalmia, Single umbilical artery, Hydrocephalu... ORPHA:3412
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276580
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
American Trypanosomiasis
Periorbital edema, Pallor, Splenomegaly, Hepatomegaly, Edema ORPHA:3386
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Cholestasis, Ele... OMIM:609015
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dehydration, Leukopenia, Leukocytosis, P... ORPHA:20
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Achondrogenesis, Type Ii
Abnormally large globe, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Abnormality of the spleen, Retinopathy,... ORPHA:2162
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Anophthalmia, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Abnorma... ORPHA:2556
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Iris transillumination defect OMIM:619165
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hydrocephalus, Corneal opacity, Hepatomegaly, Hydrops fetalis OMIM:253220
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... OMIM:619313
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Anophthalmia, Microphthalmia OMIM:206920
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnormal macular morphology, Cher... ORPHA:355
Incontinentia Pigmenti
Optic atrophy, Erythema, Cataract, Keratitis, Leukocytosis, Pallor, Hypoplasia of the fovea, Reti... OMIM:308300
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Chediak-Higashi Syndrome
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... OMIM:214500
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... OMIM:246450
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Non... OMIM:212065
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Rod-cone dystrophy, Macular atrophy, Pa... OMIM:616307
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Pallor, Mixed astigmatism, Bone spicule pigmentation of the... OMIM:617023
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Copper Deficiency, Familial Benign
Anemia, Early balding, Curly hair OMIM:121270
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Bull's eye maculopathy, Fetal pleural effusion, Nonimmune hydrops fetalis OMIM:620167
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Bardet-Biedl Syndrome 21
Elevated circulating hepatic transaminase concentration, Retinal thinning, Hyperautofluorescent m... OMIM:617406
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoi... ORPHA:3261
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Hepatomegaly ORPHA:2538
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Elevated circulating hepatic transaminase concentration, Hydrops fetali... ORPHA:88618
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant... OMIM:604229
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Fetal distress, Polyhydramnios, Microvesicular hepatic steatosis, B... OMIM:300868
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... OMIM:617049
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Lateral ventricle dilatation, Pancreatic fibrosis, Hydrops fetalis, Retinal dys... OMIM:263520
Beta-Ketothiolase Deficiency
Dehydration, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Edema ORPHA:134
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Splenomegaly... OMIM:616843
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Polyhydramnios, Pancreatic isl... OMIM:215140
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal optic nerve morphology, Megalocornea, Aniridia, Anophthalmia, Abnormal vitreous humor mo... ORPHA:1101
Fanconi Anemia, Complementation Group D2
Annular pancreas, Pancytopenia, Microphthalmia, Agenesis of corpus callosum, Anemia, Reticulocyto... OMIM:227646
Fibular Hemimelia
Spina bifida, Abnormal anterior chamber morphology, Anophthalmia, Thrombocytopenia ORPHA:93323
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase co... OMIM:619487
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial ... ORPHA:77261
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... ORPHA:101096
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Proboscis Lateralis
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Corneal opacity... ORPHA:141099
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr... ORPHA:294
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia, ... OMIM:611490
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea OMIM:615312
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Occipital meningocele, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anencephaly OMIM:616546
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Iris coloboma, Optic nerve hypoplasia OMIM:605627
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con... OMIM:610256
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Pallor, A... OMIM:605549
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Megalocornea OMIM:228520
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Recurren... OMIM:153400
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis, Cherry red spot of the macula ORPHA:79255
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Decreased fetal movement, Agenesis of corpus callosum ORPHA:264200
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Neonatal death, Hypoplastic spleen OMIM:601186
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea OMIM:113750
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Hepatosplen... ORPHA:3260
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Facial erythema ORPHA:284227
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Pallor, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropeni... OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Occipital encephalocele, Megalocornea, Agenesis of corpu... OMIM:236670
Jacobsen Syndrome
Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Macular hypoplasia, Hydroce... OMIM:147791
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Yunis-Varon Syndrome
Cataract, Bilateral microphthalmos, Increased nuchal translucency, Polyhydramnios, Redundant neck... ORPHA:3472
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Dravet Syndrome
Pallor ORPHA:33069
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Redundant neck skin, Microphthalmia OMIM:618652
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:94080
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Microphthalmia OMIM:615665
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops... ORPHA:79277
Fanconi Anemia, Complementation Group E
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:600901
Degcags Syndrome
Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, Polyhydramnios, Agenesis of co... OMIM:619488
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis OMIM:617022
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... OMIM:200600
Fanconi Anemia, Complementation Group A
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:227650
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of th... ORPHA:352731
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Keratoconjunctivitis, Abnormality... ORPHA:95159
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Retinopathy, Splenomegaly, Anophthalmia, Megalopapilla, E... OMIM:615636
Joubert Syndrome 15
Exencephaly, Coloboma, Retinopathy, Retinal dystrophy OMIM:614464
Vici Syndrome
Cataract, Hypopigmentation of the fundus, Ocular albinism, Lymphopenia, Leukopenia, Decreased pro... OMIM:242840
Focal Dermal Hypoplasia
Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Myelomeningocele, Aniridia, Anophthalmia, ... OMIM:305600
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Occipital encephalocel... OMIM:216360
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Nonimmune hydrops fetalis OMIM:618052
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:269250
Alg9-Cdg
Periportal fibrosis, Oligohydramnios, Hepatic cysts, Decreased fetal movement, Thickened nuchal s... ORPHA:79328
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Polyhydramnios, Decreased fetal movement, Nonimmune hydrops fetalis, B... OMIM:620369
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of the fundus, Blue irides OMIM:203200
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Anophthalmia, Coloboma, Microphthalmia, Polyhydramnios, Aq... ORPHA:138
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Polycythemia, Pallor, Hypertensive retinopathy, Papi... ORPHA:892
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Holoprosencephaly 9
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Partial agenesis of the co... OMIM:610829
Fanconi Anemia, Complementation Group C
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... OMIM:227645
Pituitary Apoplexy
Mydriasis, Pallor, Normochromic anemia ORPHA:95613
Joubert Syndrome 16
Coloboma, Encephalocele, Retinal dystrophy OMIM:614465
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin ORPHA:79329
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia OMIM:613792
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Aniridia, Hypertensive retinopathy, Pallor ORPHA:29072
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Neck pterygia, Pterygium, Decreas... OMIM:265000
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetalis ORPHA:2136
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis ORPHA:348
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Spina bifida occulta,... OMIM:235510
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Noonan Syndrome 2
Increased nuchal translucency, Polyhydramnios, Redundant neck skin, Anterior polar cataract, Noni... OMIM:605275
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... OMIM:620244
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Hepatomegaly,... OMIM:612301
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Hydrocephalus, Sonographic non-visualized fe... OMIM:617667
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect OMIM:617306
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Pallor, Splenomegaly, Hepatomegaly, Hydrocephalus, Anemia ORPHA:667
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Cataract, Hydrops fetalis, Premature birth ORPHA:50945
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... ORPHA:646
Microphthalmia, Syndromic 2
Microcornea, Anophthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Microphth... OMIM:300166
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism OMIM:614073
Hermansky-Pudlak Syndrome 5
Ocular albinism, Hypoplasia of the fovea, Absent platelet dense granules, Thrombocytopenia, Iris ... OMIM:614074
Charge Syndrome
Cataract, Retinal coloboma, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Coloboma, Micro... OMIM:214800
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Edema, Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia,... ORPHA:544482
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Knobloch Syndrome 1
Band keratopathy, Occipital encephalocele, Vitreoretinopathy, Attenuation of retinal blood vessel... OMIM:267750
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Reduced platelet dense granules, Iris transillumination defect, Ocular a... OMIM:619172
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Macular atrophy, Cone/co... ORPHA:85167
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Hermansky-Pudlak Syndrome 6
Ocular albinism, Ecchymosis, Macular hypoplasia, Single umbilical artery, Absent platelet dense g... OMIM:614075
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Pallor OMIM:617675
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... ORPHA:2399
Neuroblastoma
Anemia, Anemic pallor, Thrombocytopenia ORPHA:635
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hydrocephalus, Corneal o... OMIM:219000
Esophageal Atresia
Polyhydramnios, Coloboma, Pallor, Absence of stomach bubble on fetal sonography ORPHA:1199
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Hydrops fetalis, Congenital hepatic fibrosis, Agenesis of corpus callosum ORPHA:93271
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:276621
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Ocular albinism, Abnormality of retinal pigmentation, Optic nerve misrouti... ORPHA:79435
Microphthalmia, Syndromic 6
Microcornea, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy OMIM:607932
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism ORPHA:370091
Albinism, Ocular, Type I
Hypoplasia of the fovea, Depigmented fundus, Ocular albinism OMIM:300500
Alternating Hemiplegia Of Childhood
Mydriasis, Pallor, Dehydration ORPHA:2131
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea OMIM:618744
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pleural effusion, Nonimmune hydrops fetalis, Neonatal death, Single umbilical a... OMIM:265380
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Fetal distress, Ascites, Polyhydramnios, Angioid streaks of the fun... ORPHA:51608
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Achromatopsia 2
Myopic astigmatism, Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of th... OMIM:216900
Mend Syndrome
Cataract, Redundant neck skin, Anterior polar cataract, Macular hypoplasia, Hydrocephalus OMIM:300960
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hermansky-Pudlak Syndrome 8
Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran... OMIM:614077
Branchiooculofacial Syndrome
Cataract, Retinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma OMIM:113620
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Hydrocephalus, Microphthalmia ORPHA:1106
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of... ORPHA:79432
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Iris hypopigmentation, Abnormal opt... ORPHA:79434
Prolactinoma
Pallor ORPHA:2965
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Yunis-Varon Syndrome
Cataract, Polyhydramnios, Redundant neck skin, Agenesis of corpus callosum, Sclerocornea, Hydrops... OMIM:216340
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Prominent corneal nerve fibers ORPHA:653
Fraser Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2052
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Colobo... ORPHA:959
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Iris hypopigmentation, Abnormal optic nerve morphology, Ocular albinism ORPHA:79431
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia... OMIM:164210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Lateral ventricle dilatation, Cholestasis, Congenital hepatic fibrosis, Neonatal death, Prolonged... OMIM:619534
Dihydropyrimidine Dehydrogenase Deficiency
Macular hypoplasia, Microcornea, Astigmatism ORPHA:1675
Microphthalmia, Syndromic 1
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Mi... OMIM:309800
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Blue irides, Astigmatism, Ocular albinism OMIM:203100
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... OMIM:619539
Goodpasture Syndrome
Anemia, Pallor OMIM:233450
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Stillbirth, Biliary tract abnormality, Coloboma, Corneal opacity, Fro... 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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