| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Failure to thrive, Monocytosis |
OMIM:615592 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Immunodeficiency 32B |
|
Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocy... |
OMIM:226990 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... |
OMIM:615285 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microphthalmia |
ORPHA:2432 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:169154 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... |
OMIM:620565 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi... |
OMIM:612541 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Microphthalmia |
OMIM:278780 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Congenital Toxoplasmosis |
|
Anemia, Failure to thrive in infancy, Thrombocytopenia, Microphthalmia |
ORPHA:858 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia |
ORPHA:514 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microphthalmia |
OMIM:274270 |
| 2Q24 Microdeletion Syndrome |
|
Small for gestational age, Failure to thrive, Microphthalmia |
ORPHA:1617 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia, Microphthalmia |
OMIM:619981 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Failure to thrive in infancy, Microphthalmia |
OMIM:618805 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Biemond Syndrome Type 2 |
|
Obesity, Microphthalmia |
ORPHA:141333 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... |
ORPHA:3226 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Microphthalmia |
OMIM:602501 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:290 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Neutropenia, Microphthalmia |
OMIM:616395 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... |
ORPHA:911 |
| Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
| Pierpont Syndrome |
|
Small for gestational age, Microphthalmia |
ORPHA:487825 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Pierpont Syndrome |
|
Microphthalmia, Failure to thrive, Decreased body weight |
OMIM:602342 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Warburg Micro Syndrome 1 |
|
Failure to thrive, Microphthalmia |
OMIM:600118 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Failure to thrive, Microphthalmia |
OMIM:612379 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia |
OMIM:612840 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Neutropenia, Decreased body weight |
OMIM:609053 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Aniridia, Microphthalmia, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Obesity, Microphthalmia |
OMIM:601794 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Fanconi Anemia, Complementation Group S |
|
Anemia, Failure to thrive, Microphthalmia |
OMIM:617883 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Failure to thrive in infancy, Leukocytosis, Neutrop... |
OMIM:617099 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Microphthalmia |
ORPHA:363741 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Weight loss, Leukocytosis |
ORPHA:2070 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Failure to thrive, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Microphthalmia |
OMIM:617244 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Iron deficiency anemia, Neutropenia, Decreased body weight |
ORPHA:1667 |
| Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Failure to thrive, Microphthalmia |
OMIM:214150 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Leukopenia, Thrombocytopenia, Microphthalmia, Anemia |
OMIM:603467 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Seckel Syndrome 2 |
|
Small for gestational age, Microphthalmia |
OMIM:606744 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Microphthalmia |
ORPHA:1438 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
| Adams-Oliver Syndrome |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Microphthalmia |
ORPHA:974 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Microphthalmia |
OMIM:610756 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Microphthalmia |
ORPHA:3191 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
| Pyomyositis |
|
Weight loss, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Microphthalmia |
ORPHA:335 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Failure to thrive, Microphthalmia |
OMIM:301108 |
| Joubert Syndrome 37 |
|
Obesity, Microphthalmia |
OMIM:619185 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Fanconi Anemia, Complementation Group N |
|
Acute myeloid leukemia, Aplastic anemia, Small for gestational age, Microphthalmia |
OMIM:610832 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:3378 |
| Sandestig-Stefanova Syndrome |
|
Small for gestational age, Microphthalmia |
OMIM:618804 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Failure to thrive, Thrombocytopenia |
OMIM:617718 |
| Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Microphthalmia |
OMIM:243310 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Neutropenia, Microphthalmia |
ORPHA:193 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227646 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Eosinophilia, Leukocytosis, Microphthalmia |
OMIM:308300 |
| Adult-Onset Still Disease |
|
Leukocytosis, Splenomegaly, Weight loss, Neutrophilia, Anemia |
ORPHA:829 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Decreased body weight |
OMIM:617306 |
| Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Anophthalmia, Microphthalmia |
OMIM:206920 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Small for gestational age, Microphthalmia |
OMIM:127000 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
| Kapur-Toriello Syndrome |
|
Failure to thrive, Microphthalmia |
ORPHA:2328 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Bilateral microphthalmos, Decreased body weight |
OMIM:610758 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Obesity, Microphthalmia |
ORPHA:251038 |
| Garg-Mishra Progeroid Syndrome |
|
Microphthalmia |
OMIM:620601 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Microphthalmia, Anemia |
OMIM:620005 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia, Microphthalmia |
OMIM:620185 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:899 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Microphthalmia |
OMIM:243605 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Lymphocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Jacobsen Syndrome |
|
Macular hypoplasia, Failure to thrive, Thrombocytopenia, Microphthalmia |
OMIM:147791 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Incontinentia Pigmenti |
|
Eosinophilia, Microphthalmia |
ORPHA:464 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Microphthalmia |
OMIM:619148 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Microphthalmia |
OMIM:257850 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia |
ORPHA:99776 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Acute lymphoblastic leukemia, Aplastic anemia, Microphthalmia |
OMIM:223370 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Microphthalmia |
OMIM:601675 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Microphthalmia |
OMIM:302960 |
| Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
| 3Q29 Microdeletion Syndrome |
|
Failure to thrive, Microphthalmia |
ORPHA:65286 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:249100 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| Joubert Syndrome 2 |
|
Failure to thrive, Microphthalmia |
OMIM:608091 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Microphthalmia |
OMIM:300952 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Failure to thrive, Anophthalmia, Microphthalmia |
ORPHA:2538 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Microphthalmia |
OMIM:617729 |
| Momo Syndrome |
|
Obesity, Large for gestational age, Bilateral microphthalmos |
ORPHA:2563 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Small for gestational age, Microphthalmia |
OMIM:251300 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Microphthalmia |
OMIM:614083 |
| Trichothiodystrophy |
|
Anemia, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Neutropenia |
ORPHA:33364 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Holoprosencephaly |
|
Failure to thrive in infancy, Abnormality of the spleen, Anophthalmia, Microphthalmia |
ORPHA:2162 |
| Fanconi Anemia |
|
Leukopenia, Aplasia/Hypoplasia of the iris, Weight loss, Thrombocytopenia, Microphthalmia, Anemia... |
ORPHA:84 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Decreased body weight |
OMIM:300895 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Microphthalmia |
OMIM:601812 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
| Cockayne Syndrome B |
|
Failure to thrive, Hypoplasia of the iris, Splenomegaly, Severe failure to thrive, Microphthalmia... |
OMIM:133540 |
| 1Q21.1 Microdeletion Syndrome |
|
Failure to thrive, Microphthalmia |
ORPHA:250989 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Microphthalmia |
ORPHA:1052 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Microphthalmia |
OMIM:617666 |
| Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Failure to thrive |
OMIM:618874 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
| Degcags Syndrome |
|
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukopenia, Abnormal spleen morphology, Iron... |
OMIM:619488 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Microphthalmia |
ORPHA:364577 |
| Hallermann-Streiff Syndrome |
|
Small for gestational age, Microphthalmia |
OMIM:234100 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Asplenia |
ORPHA:564 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614643 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia |
OMIM:612109 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
| Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Failure to thrive, Microphthalmia |
ORPHA:861 |
| Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
| Trisomy 18 |
|
Cachexia, Microphthalmia |
ORPHA:3380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Optic nerve hypoplasia, Microphthalmia |
OMIM:236670 |
| Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
| Monosomy 9Q22.3 |
|
Large for gestational age, Microphthalmia |
ORPHA:77301 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Microphthalmia |
ORPHA:3412 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:606519 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... |
OMIM:609049 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Failure to thrive, Thrombocytopenia, Microphthalmia, Anemia, Buphthalmos |
ORPHA:534 |
| Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
| Roberts Syndrome |
|
Thrombocytopenia, Microphthalmia |
ORPHA:3103 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Failure to thrive, Microphthalmia |
ORPHA:137675 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Microphthalmia |
OMIM:608940 |
| Fryns Syndrome |
|
Large for gestational age, Polysplenia, Microphthalmia |
OMIM:229850 |
| 22Q11.2 Deletion Syndrome |
|
Failure to thrive, Obesity, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Microphthalmia |
ORPHA:567 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
| Cockayne Syndrome Type 3 |
|
Splenomegaly, Microphthalmia |
ORPHA:90324 |
| Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Microphthalmia |
OMIM:268400 |
| Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
| Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:508498 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
| Cockayne Syndrome |
|
Cachexia, Splenomegaly, Microphthalmia |
ORPHA:191 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Bilateral microphthalmos |
ORPHA:93325 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Failure to thrive, Microphthalmia |
ORPHA:1106 |
| Acrofrontofacionasal Dysostosis 1 |
|
