Not currently registered for phenotyping at IMPC

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

Gene Summary

LIM homeobox protein 2
Lh-2,  LH2A,  apterous,  ap

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Preeclampsia, Hepatomegaly, Anemia, Splenomegal... ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate produ... OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Cerebral atrophy, Hepatomegaly, Nonimmune hydrops fetalis, Spl... OMIM:608540
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly, Microcephaly ORPHA:2204
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Hydrops fetalis, Fetal akinesia sequence, Abnormal cerebral white matter ... OMIM:618815
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Cerebral atrophy, Hepatomegaly, Premature birth, Ascites... OMIM:269920
Congenital Hydrocephalus
Hydrocephalus, Iris coloboma, Small cerebral cortex, Macular hypoplasia, Abnormal cortical gyrati... ORPHA:2185
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Cerebral atrophy, Thrombocytopenia, Pancytopenia, Jaundice, Hepatomegaly, S... OMIM:613839
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Microphthalmia, ... ORPHA:139471
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia ORPHA:295
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Anophthalmia, Hydrocephalus, Pachygyria,... ORPHA:899
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Premature skin wrinkling, Thrombocytopenia, Edema, Anemia, Hepatosple... ORPHA:101028
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Sp... ORPHA:846
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Thrombocytopenia, Hepatomegaly, Premature birth, Ascites, Anemia ORPHA:2123
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Sialidosis Type 2
Abnormal macular morphology, Hydrops fetalis, Pedal edema, Corneal opacity, Hepatomegaly, Ascites... ORPHA:87876
Neuroectodermal Melanolysosomal Disease
Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormality of the optic nerve, Optic at... ORPHA:33445
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Combined Oxidative Phosphorylation Defect Type 27
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Hypoplastic hippoca... ORPHA:477774
Developmental And Epileptic Encephalopathy 96
Primary microcephaly, Hydrops fetalis OMIM:619340
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, H... ORPHA:858
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Oculocerebrocutaneous Syndrome
Microphthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Anophthalmia OMIM:164180
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:274270
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Microphthalmia, Syndromic 5
Coloboma, Ectopic posterior pituitary, Retinal dystrophy, Cataract, Optic nerve hypoplasia, Micro... OMIM:610125
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor, Cone dystrophy, Optic disc pallor OMIM:268040
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Pappenheimer bodies, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Type II lissencephaly, Retinal dysplasia, Ocular anterior segme... ORPHA:324416
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Klippel-Trénaunay Syndrome
Hydrops fetalis, Microcytic anemia, Hepatomegaly, Edema, Ascites, Microcephaly ORPHA:90308
Neuraminidase Deficiency
Bone-marrow foam cells, Hydrops fetalis, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Cata... OMIM:256550
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Abnormal hair morphology, Anophthalmia OMIM:248450
Mulibrey Nanism
Hydrops fetalis, Pigmentary retinopathy, Iris coloboma, Hepatomegaly, Ascites, Astigmatism, Corne... OMIM:253250
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly, Microphthalmia, Anophthalmia, Microcephaly, Anterior hypop... OMIM:147250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia, Agen... ORPHA:77298
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Pallor, Optic disc pallor OMIM:609021
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration, Pallor OMIM:610381
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Colobo... OMIM:253280
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Pancytopenia, Thrombocytopenia, Neonatal de... ORPHA:85212
Polyhydramnios, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Premature ... ORPHA:2189
Apolipoprotein A-I Deficiency
Abnormality of the liver, Corneal opacity, Anemia, Splenomegaly ORPHA:425
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Pallo... OMIM:613750
Meckel Syndrome, Type 8
Microcephaly, Microphthalmia, Anophthalmia OMIM:613885
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Neutropenia, Optic nerve hypoplasia, Microphthalmia, Micr... OMIM:609053
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Coloboma, Abnormal cerebral white matter morphology, Corneal o... OMIM:613153
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Fumarase Deficiency
Open operculum, Polycythemia, Cerebral atrophy, Cholestasis, Polymicrogyria, Hepatic failure, Mic... OMIM:606812
Retinitis Pigmentosa 42
Pallor, Rod-cone dystrophy OMIM:612943
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract, Coloboma OMIM:607906
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Leukemia OMIM:614082
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Trisomy 13
Hydrops fetalis, Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Abnorma... ORPHA:3378
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Abnormal cerebral white matter morphology, Hepatomegaly, Anemia, Microcephaly, Pallor OMIM:246450
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Coloboma, Hypoplasia of the corpus callosum, Anterior pituitary hypoplasi... OMIM:206900
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis, Decreased response to growth hormone stimuation test ORPHA:1263
Meckel Syndrome
Abnormal chorioretinal morphology, Accessory spleen, Aplasia/Hypoplasia of the corpus callosum, O... ORPHA:564
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Anophthalmia ORPHA:411986
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Coloboma, Elevated hepatic transaminase, Microcytic anemia, Optic disc hypoplasia, Cataract, Opti... ORPHA:324737
Retinitis Pigmentosa 60
Pallor, Rod-cone dystrophy OMIM:613983
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Pigmentary retinopathy, Megaloblastic anemia, Cerebral atrophy, Neutropenia, Ret... ORPHA:79282
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Decreased fetal movement, Edema, Ascites, Hepatic fai... OMIM:232500
Free Sialic Acid Storage Disease
Iris hypopigmentation, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Skin ulcer ORPHA:834
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Vacuolated lymphocytes, Hepatomegaly, Cerebral degeneration, Splenomegaly, Cherr... OMIM:230500
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Cockayne Syndrome Type 2
Developmental cataract, Subcortical white matter calcifications, Conjunctivitis, Hepatomegaly, An... ORPHA:90322
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocyto... ORPHA:290
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Increased nuchal translucency, Anophthalmia, Agen... ORPHA:261344
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Catara... ORPHA:2611
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Coach Syndrome 2
Chorioretinal coloboma, Coloboma, Elevated hepatic transaminase, Hydrocephalus, Hepatic fibrosis,... OMIM:619111
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Iris coloboma, Macular hypoplasia, Simplified gyral pattern, Optic a... OMIM:615219
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Pigmentary retinopathy, Hepatomegaly, Cataract, Basal ganglia calc... ORPHA:90321
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Lymphedema, Pleural effusion, Scali... ORPHA:2526
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Oligohydramnios, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Dermatitis, Atopic
Keratoconus, Facial erythema, Cataract, Conjunctivitis, Pallor, Dry skin OMIM:603165
Farber Disease
Hydrops fetalis, Cherry red spot of the macula, Elevated hepatic transaminase, Joint swelling, In... ORPHA:333
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231214
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema, Breech presentation OMIM:600972
Optic Atrophy 9
Optic atrophy, Pallor OMIM:616289
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Purpura, Thrombocytopenia, Hepatomegaly, Decreased fetal movement, Petechiae, Pre... OMIM:608013
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231226
Gm1 Gangliosidosis
Hydrops fetalis, Abnormal cerebral white matter morphology, Corneal opacity, Encephalomalacia, Re... ORPHA:354
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Anemia, Simplified gyral pattern, Agenesis ... OMIM:619302
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Microphthalmia, Syndromic 13
Microcephaly, Microcornea, Microphthalmia, Coloboma OMIM:300915
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth, Stillbirth OMIM:215045
Anemia ORPHA:655
Retinitis Pigmentosa 70
Optic disc pallor, Pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Retinal dystrophy, Thrombocytopenia, Optic atrophy, Pallor ORPHA:49827
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Hepatomegaly, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Coloboma, Retinal degeneration, Cataract, Agy... OMIM:615249
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Oligohydramnios, Corneal opacity, Abnormal liver l... ORPHA:99776
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Hydrops fetalis, Hydrocephalus, Iris coloboma, Microphthalmia, Agenesis o... ORPHA:268249
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Lymphedema, Thrombocytopenia, Hepatomegaly, Abnormality of the optic nerve, Abnorma... ORPHA:3226
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Oculotrichoanal Syndrome
Abnormal hair pattern, Microphthalmia, Anophthalmia ORPHA:2717
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Biliary tract abnormal... OMIM:156810
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Coloboma, Microcytic anemia, Cutis laxa, Polymicrogyria OMIM:612379
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Single umbilical artery, Hydrops fetalis, Anemia ORPHA:3405
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Indomethacin Embryofetopathy
Hydrops fetalis, Premature birth, Oligohydramnios ORPHA:1909
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Hypoplasia of the corpus callosum, Cor... OMIM:106210
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Hepatocellular... ORPHA:88618
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Pallor, Rod-cone dystrophy OMIM:617717
Pearson Syndrome
Hydrops fetalis, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Dehydration, An... ORPHA:699
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Anophthalmia ORPHA:1104
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Cerebral calcification, Pallor, Eosinophilia ORPHA:90045
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Acute pancreatitis, Hepatomegaly, Ja... ORPHA:20
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Retinal coloboma, Anencephaly, Polymicrogyria, Hydrocephalus OMIM:616546
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Abnormality of the optic nerv... ORPHA:3412
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Abnormality of the amniotic fluid, Reticulocytosis, Cholecystitis, Chol... OMIM:266200
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Retinitis Pigmentosa 81
Pallor OMIM:617871
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Blue irides, Hypopigmentation of the fundus OMIM:606574
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Leber Congenital Amaurosis 14
Pallor, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal cerebral white matter morphology, Neutropenia, Pancytopen... OMIM:159550
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Joubert Syndrome 22
Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus callosum, Retinal dysplasia, Microp... OMIM:615665
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Cerebral atrophy, Pancytopenia, Thrombocytopenia, Hepat... OMIM:259720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Single umbilical artery, Ascites, Microcephaly OMIM:616897
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegaly, Edema, A... OMIM:603552
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Campomelia, Cumming Type
Hydrops fetalis, Oligohydramnios, Lymphedema, Pancreatic cysts, Hepatomegaly, Abnormality of the ... ORPHA:1318
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased liver function, Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618835
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Abnormal retinal morphology, Pallor ORPHA:2786
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased liver function, Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618839
Dyssegmental Dysplasia, Silverman-Handmaker Type
Developmental cataract, Hydrops fetalis, Increased placental thickness, Single umbilical artery, ... ORPHA:1865
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Cataract, Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb ORPHA:2250
Incontinentia Pigmenti
Leukocytosis, Retinal vascular proliferation, Erythema, Cataract, Keratitis, Retinal hemorrhage, ... OMIM:308300
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Pituitary... ORPHA:95613
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Anemia, Splenomegaly, Microcephaly ORPHA:1046
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Gm1 Gangliosidosis Type 1
Diffuse white matter abnormalities, Hydrops fetalis, T2 hypointense basal ganglia, Abnormal place... ORPHA:79255
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Mi... OMIM:615438
Baraitser-Winter Syndrome 2
Pachygyria, Coloboma, Microphthalmia, Secondary microcephaly, Agenesis of corpus callosum, Lissen... OMIM:614583
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Coloboma,... ORPHA:370959
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Abnormality of the amniotic fluid, Hepatic steatos... OMIM:212065
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Panhypopituitarism, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Cyclopia, ... ORPHA:2162
Myoclonus, Intractable, Neonatal
Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Microphthalmia With Limb Anomalies
Microphthalmia, Abnormal hair morphology, Anophthalmia OMIM:206920
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Corneal opacity, Hepatomegaly, Splenomegaly, Hydrocephalus OMIM:253220
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Microcephaly ORPHA:169079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Retinitis Pigmentosa 73
Retinal atrophy, Pallor, Rod-cone dystrophy OMIM:616544
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Cerebrooculonasal Syndrome
Anophthalmia, Sparse and thin eyebrow, Sparse eyelashes ORPHA:66625
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased m... ORPHA:98870
Frontonasal Dysplasia 1
Coloboma, Lipoma of corpus callosum, Cataract, Microphthalmia, Agenesis of corpus callosum OMIM:136760
Congenital Sialidosis Type 2
Developmental cataract, Yellow/white lesions of the retina, Corneal opacity, Hepatomegaly, Catara... ORPHA:93400
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Corneal opacity, Hepatitis, Ascites, Splenomegaly ORPHA:584
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia OMIM:610023
Cyclic Vomiting Syndrome
Microcephaly, Pallor OMIM:500007
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Sepsis In Premature Infants
Prenatal maternal abnormality, Purpura, Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, He... ORPHA:90051
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress, Maternal diabetes ORPHA:45452
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Cirrhosis, Elevated hepatic transaminase, Fetal akinesia sequence, Hepatomegaly, ... ORPHA:367
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia, Coloboma OMIM:120433
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Abnormal cerebral white matter morphology, Neutr... ORPHA:398124
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276580
Gaucher Disease, Type Ii
Cerebral atrophy, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Cirrhosis, Hydrops fetalis, Absent septum pellucidum, Hypoplasia of the corpus ca... OMIM:300868
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hydrops fetalis, Lymphedema, Pleural effusion, Lymphopenia, Pericardial e... ORPHA:90362
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Decreased fetal movement, Hydrops fetalis OMIM:255320
Waldenström Macroglobulinemia
Purpura, Abnormality of neutrophils, Pleural effusion, Pedal edema, Normocytic anemia, Hepatomega... ORPHA:33226
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Hydrops fetalis, Elevated hepatic transaminase, Abnormality of the... OMIM:609015
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Cerebral calcification, Anemia, Splenomegaly, Optic atrophy ORPHA:2785
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Conjunctival telangiectasia, Opacification of the corneal stroma, Nonimmune hydrops fetalis, Hepa... OMIM:256540
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Pallor ORPHA:324575
Histiocytoid Cardiomyopathy
Congenital aphakia, Hydrocephalus, Corneal opacity, Hepatomegaly, Megalocornea, Microphthalmia, P... ORPHA:137675
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Hydrocephalus, Absent septum pelluc... ORPHA:2556
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:98375
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Elevated hepatic transaminase, Leukocyto... OMIM:610377
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... ORPHA:331206
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria, Retinal dystrophy OMIM:263100
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Pallor, Optic disc pallor OMIM:612989
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Microcephaly, Dry skin OMIM:618116
Gaucher Disease
Cirrhosis, Hydrops fetalis, Cherry red spot of the macula, Abnormal macular morphology, Corneal o... ORPHA:355
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276575
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Coloboma, Unilateral microphthalmos OMIM:619318
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Pachygyria, Pancreatic fibrosis, Retinal dystrophy, Hepatic fibrosis, Dilation o... OMIM:263520
Familial Benign Copper Deficiency
Aplasia/Hypoplasia of the fovea, Early balding, Anemia ORPHA:1551
Bone Marrow Failure Syndrome 5
Microcephaly, Pure red cell aplasia, Anemia OMIM:618165
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276556
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Microgastria-Limb Reduction Defect Syndrome
Absent septum pellucidum, Arrhinencephaly, Hepatomegaly, Abnormal cortical gyration, Microphthalm... ORPHA:2538
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Iris transillumination defect OMIM:619165
American Trypanosomiasis
Hepatomegaly, Edema, Splenomegaly, Periorbital edema, Pallor ORPHA:3386
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:615838
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Chediak-Higashi Syndrome
Iris hypopigmentation, Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericida... OMIM:214500
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Pedal edema, Thrombocytopenia, Acute myeloid leukemia, Anemia of ina... ORPHA:86839
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Matthew-Wood Syndrome
Abnormal spleen morphology, Microphthalmia, Anophthalmia ORPHA:2470
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Jacobsen Syndrome
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Macular hypoplasia, Thrombocytopenia, M... OMIM:147791
Fanconi Anemia, Complementation Group E
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microphthalmia, An... OMIM:600901
Hydrops Fetalis
Polyhydramnios, Increased placental thickness, Lymphedema, Pleural effusion, Pericardial effusion... ORPHA:1041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Dravet Syndrome
Dysgenesis of the hippocampus, Pallor ORPHA:33069
Hyperlysinemia, Type I
Ectopia lentis, Anemia OMIM:238700
Fanconi Anemia, Complementation Group D2
Anemic pallor, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Neutropenia, Retic... OMIM:227646
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Fanconi Anemia, Complementation Group A
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microphthalmia, An... OMIM:227650
Curry-Jones Syndrome
Coloboma, Megalencephaly, Polymicrogyria, Microphthalmia, Hemimegalencephaly, Agenesis of corpus ... OMIM:601707
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Coloboma ORPHA:141333
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Redundant neck skin, Microphthalmia, Secondary microcephaly OMIM:618652
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Optic atrophy, ... OMIM:611490
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Holoprosencephaly 9
Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ... OMIM:610829
Niemann-Pick Disease Type C
Bone-marrow foam cells, Hydrops fetalis, Frontal cortical atrophy, Hypoplasia of the corpus callo... ORPHA:646
Gaucher Disease Type 3
Hydrops fetalis, Pericardial effusion, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Sple... ORPHA:77261
Åland Islands Eye Disease
Astigmatism, Hypoplasia of the fovea, Hypopigmentation of the fundus ORPHA:178333
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Corneal opacity, Bilateral microphthalmos, Cataract, Microphthalmia, Microcephaly, Conj... ORPHA:2399
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Sheehan Syndrome
Panhypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone deficiency, Normochromi... ORPHA:91355
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly, Pallor ORPHA:90033
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu... ORPHA:905
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Pachygyria, Hydrocephalus, Arrhinencephaly, Bilateral microphtha... ORPHA:3472
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Pachygyria, Arrhinencephaly, Cataract, Premature birth, Scleroco... OMIM:216340
Bardet-Biedl Syndrome 21
Retinal atrophy, Elevated hepatic transaminase, Retinal thinning, Cone/cone-rod dystrophy, Hypera... OMIM:617406
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Microcephaly OMIM:613792
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Chylothorax, Edema, Ascites, Nonimmun... OMIM:616843
Fibular Hemimelia
Thrombocytopenia, Abnormal anterior chamber morphology, Spina bifida, Anophthalmia ORPHA:93323
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites ORPHA:69735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Coloboma, Retinal at... OMIM:236670
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Decreased fetal movement, Anophthalmia, Optic nerve aplasia, Agene... ORPHA:264200
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Hydrops fetalis, Ascites OMIM:614091
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Purpura, Abnormal cerebral white matter morpholo... ORPHA:540
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microphthalmia, An... OMIM:227645
Knobloch Syndrome 1
Developmental cataract, Cerebral atrophy, Macular hypoplasia, Polymicrogyria, Vitreoretinopathy, ... OMIM:267750
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Aland Island Eye Disease
Astigmatism, Hypoplasia of the fovea OMIM:300600
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Hemifacial Microsomia
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Anophthalmia, Limbal dermoid OMIM:164210
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Leukopenia, Pancreatitis, Optic atrophy, Mac... ORPHA:27
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Fibrochondrogenesis 1
Megalocornea, Hydrops fetalis, Stillbirth OMIM:228520
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Hennekam Syndrome
Hydrops fetalis, Pachygyria, Lymphedema, Lymphopenia, Pericardial effusion, Chylothorax, Ascites,... ORPHA:2136
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Coloboma, Absent septum pellucidum OMIM:601357
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Abnormal vitreous humor morphology, Abnormality of the optic nerve, Megalocornea, Anoph... ORPHA:1101
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Anophthalmia OMIM:605627
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly, Dehydration, Edema, Pallor ORPHA:134
Developmental And Epileptic Encephalopathy 83
Cerebral cortical atrophy, Hypoplasia of the fovea, Hypoplasia of the corpus callosum, Microcephaly OMIM:618744
Pseudo-Torch Syndrome 3
Leukocytosis, Abnormal cerebral white matter morphology, Congenital thrombocytopenia, Premature b... OMIM:618886
Greenberg Dysplasia
Polyhydramnios, Stillbirth, Pleural effusion, Extramedullary hematopoiesis, Hepatomegaly, Hepatic... OMIM:215140
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Increased hepatocellular lipid droplets, Hepatomegaly, Decreased liver fu... OMIM:220110
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea OMIM:615312
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Rheumatic Fever
Hemiballismus, Pallor, Erythema ORPHA:3099
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Retinopathy, Anophthalmia OMIM:615636
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, C... OMIM:613610
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Propionic Acidemia
Cerebral atrophy, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia,... OMIM:606054
Senior-Loken Syndrome 8
Macular atrophy, Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hepatomegaly, Progressive leukoencephalopathy, Decreased liver function, ... ORPHA:436271
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Cholestasis, Subcortical cerebral atrophy, Hepatitis, Cholestatic ... ORPHA:440713
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Primary congenital glaucoma, Congeni... OMIM:105650
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Hermansky-Pudlak Syndrome 6
Macular hypoplasia, Abnormal platelet granules, Ocular albinism, Absent foveal reflex OMIM:614075
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea OMIM:113750
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:200600
Congenital Erythropoietic Porphyria
Hemolytic anemia, Abnormality of the amniotic fluid, Reticulocytosis, Erythroid hyperplasia, Thro... ORPHA:79277
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Ascites, Transudative pleural effusion ORPHA:284227
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Macular degeneration, Cone/cone-rod dystrophy, Abnormality o... OMIM:605549
Charge Syndrome
Polyhydramnios, Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Aqueductal stenosis, Mi... ORPHA:138
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Focal Dermal Hypoplasia
Aniridia, Chorioretinal coloboma, Hydrocephalus, Ectopia lentis, Iris coloboma, Microphthalmia, S... OMIM:305600
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Pigmentary retinopathy, Pallor OMIM:617675
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Increased hepatic glycogen content, Pancreat... ORPHA:263455
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Elevated hepatic transaminase, Joint swelling, Leukocytosis, Pleural effusion, An... ORPHA:3260
Charge Syndrome
Gonadotropin deficiency, Coloboma, Retinal coloboma, Holoprosencephaly, Arrhinencephaly, Lymphope... OMIM:214800
Hepatoerythropoietic Porphyria
Hemolytic anemia, Abnormality of the amniotic fluid, Corneal ulceration, Erythroid hyperplasia, E... ORPHA:95159
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Coloboma OMIM:611961
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Microphthalmia, Syndromic 6
Aplasia/Hypoplasia of the corpus callosum, Coloboma, Abnormal cerebral white matter morphology, R... OMIM:607932
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Abnormal morphology of the choroidal vasculature, Depigmented fundus, Opti... ORPHA:352731
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepato... OMIM:612840
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Abnormal retinal artery morphology, Hydrops fetalis, Pericardial effusion, Fetal ... ORPHA:51608
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia OMIM:601186
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Microphthalmia, Syndromic 2
Developmental cataract, Remnants of the hyaloid vascular system, Hypoplasia of the corpus callosu... OMIM:300166
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:94080
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplastic anemia, Pallor ORPHA:447
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, Cataract, B lymphocytopenia, Anemi... ORPHA:508542
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Decreased proportion ... OMIM:613011
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Retinal calcification, Papilledema, Basal ganglia calcification, Micropht... OMIM:127000
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Cerebral cortical atrophy, Cerebral calcification, Anemia, Microcephaly, Abnorm... ORPHA:3322
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Ocular albinism, Cataract, Anemia, Choroideremia, Microce... ORPHA:2719
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Elevated circulating growth hormone concentration, ... ORPHA:100076
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Anterior h... ORPHA:2965
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic cysts, Polycythemia, Hypertensive retinopathy, Papillede... ORPHA:892
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Optic nerve compression, Anemia, Splenomegaly, Optic atrophy, Hydrocephalus, Dilati... OMIM:612301
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Microcephaly, Neutropenia, Anemia OMIM:617243
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Cataract, Hydrops fetalis, Premature birth ORPHA:50945
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Hypoplasia of the fovea, Blue irides OMIM:203200
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Abnormal platelet granules, Ocular albinism OMIM:614073
Fraser Syndrome 1
Bilateral microphthalmos, Corneal opacity, Abnormal cortical gyration, Anophthalmia, Microcephaly... OMIM:219000
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Severe hydrops fetalis OMIM:601927
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Anemia ORPHA:329971
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Fanconi Anemia, Complementation Group F
Polyhydramnios, Thrombocytopenia, Single umbilical artery, Microphthalmia, Anemia, Leukopenia, Pl... OMIM:603467
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypertensive retinopathy, Pallor, Retinal capillary hemangioma ORPHA:29072
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Premature birth, Edema OMIM:602522
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Pallor, Elevated hepatic transaminase ORPHA:348
Familial Multiple Lipomatosis
Hypoplasia of the corpus callosum, Cerebral calcification, Coloboma, Chorioretinitis ORPHA:199276
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Macular hypoplasia, Microcornea, Hyperintensity of cerebral white matter on MRI... ORPHA:1675
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Reduced platelet dense granules, Ocular albinism, Iris transillumination... OMIM:619172
Retinitis Pigmentosa 75
Mixed astigmatism, Pallor OMIM:617023
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Basal ganglia calcification, Optic nerve compression, Anemia, Hepat... OMIM:259730
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis, Cerebral atrophy, C... OMIM:613658
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Hypoplasia of the fovea, Ocular albinism OMIM:614074
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Hydrops fetalis, Congenital hepatic fibrosis, Agenesis of corpus callosum ORPHA:93271
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pleural empyema, Thrombocytopenia, Edema, Pancreatitis, Generaliz... ORPHA:544482
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Retinal calcification, Papilledema, Bilateral microphthalmos, Basal gangl... ORPHA:93325
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Anemia, Splenomegaly, Pallor, Hydrocephalus ORPHA:667
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Increased circulating gonadotropin level, Elevated circulatin... ORPHA:91347
Cardiac Valvular Defect, Developmental
Hydrops fetalis, Edema OMIM:212093
Branchiooculofacial Syndrome
Retinal coloboma, Iris coloboma, Cataract, Microphthalmia, Anophthalmia, Microcephaly OMIM:113620
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Coloboma OMIM:615113
Microphthalmia With Limb Anomalies
Arrhinencephaly, Microphthalmia, Optic atrophy, True anophthalmia, Hydrocephalus ORPHA:1106
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Ocular albinism, Optic nerve misrouti... ORPHA:79435
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Pallor ORPHA:276621
Nephronophthisis 11
Hepatic fibrosis, Anisocoria, Anemia, Retinal degeneration OMIM:613550
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Esophageal Atresia
Polyhydramnios, Maternal diabetes, Coloboma, Absence of stomach bubble on fetal sonography, Pallor ORPHA:1199
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypoplasia of the corpus callosum, Papilledema, Corneal opacity, Cholelithiasis, Pancytopenia, Th... ORPHA:2072
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Fraser Syndrome
Microcephaly, Myelomeningocele, Microphthalmia, Anophthalmia ORPHA:2052
Anemia, Congenital Dyserythropoietic, Type Iii
Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Nonimmune hydrops fetalis, Hydrocephalus, Chylothorax ORPHA:137667
Alternating Hemiplegia Of Childhood
Dehydration, Mydriasis, Pallor ORPHA:2131
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Blau Syndrome
Joint swelling, Retrobulbar optic neuritis, Erythema, Abnormality of the optic nerve, Cataract, X... ORPHA:90340
Microphthalmia, Syndromic 1
Chorioretinal coloboma, Iris coloboma, Ciliary body coloboma, Microcornea, Microphthalmia, Anopht... OMIM:309800
Hermansky-Pudlak Syndrome 8
Astigmatism, Hypoplasia of the fovea, Ocular albinism, Optic disc pallor OMIM:614077
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Heterochromia iridis, Macular hypopig... ORPHA:79432
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Neoplasm of the liver, Pallor ORPHA:653
Oculocutaneous Albinism
Iris hypopigmentation, Iris coloboma, Ocular albinism, Hypopigmentation of the fundus, Hypoplasia... ORPHA:55
Rare Circulatory System Disease
Pallor ORPHA:98028
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Iris hypopigmentation, Hypoplasia of the fovea, Abnormality of re... ORPHA:79434
Childhood Absence Epilepsy
Pallor ORPHA:64280
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Iris hypopigmentation, Hypoplasia of the fovea, Ocular albinism ORPHA:79431
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Thickened nuchal skin fold, Pleural effusion, Neonatal death, Asplenia, Single um... OMIM:265380
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypoplasia of the fovea, Ocular albinism, Blue irides OMIM:203100
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Accessory spleen, Coloboma, Stillbirth, Biliary tract abnormality, Cataract, Opac... OMIM:268300
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Hypertrichosis... ORPHA:2330
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Low 5-minute APGAR score, Pallor, Low 1-minute APGAR score ORPHA:99125


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.

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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) Targeting vectors, ES Cells

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