| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:300946 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, EEG abnormality, Increased ... |
OMIM:617021 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment |
ORPHA:71289 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... |
OMIM:124900 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Decreased nerve conduction velocity, Acute myelomonocytic leukemia, Anemia, Neutrop... |
OMIM:159550 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:613090 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Hypsarrhythmia, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia |
OMIM:615010 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... |
ORPHA:494444 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Cupped e... |
OMIM:617052 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Increased mean corpuscular volume, Thromb... |
ORPHA:261250 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytope... |
OMIM:616738 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Spinal ... |
ORPHA:231222 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Sensorineural hearing impairment, Leukemia, Hypoplastic anemia, Thr... |
OMIM:194350 |
| Forsythe-Wakeling Syndrome |
|
Low-set ears, Macrotia, Thrombocytopenia |
OMIM:613606 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Abno... |
OMIM:598500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s... |
OMIM:613101 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia, Hearing impairment |
OMIM:616435 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia |
ORPHA:289916 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Abnormality o... |
ORPHA:101028 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Abnormally large globe, Hypochloremia, Hypoka... |
OMIM:241200 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Thrombocytopenia, Anemia, Hearing impairment |
ORPHA:858 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto... |
OMIM:616959 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutrop... |
ORPHA:79312 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1574 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Hypercalcemia, Anemia |
ORPHA:2123 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:602522 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Myelitis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Leukopenia, ... |
ORPHA:27 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... |
ORPHA:89938 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Developmental And Epileptic Encephalopathy 1 |
|
EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Dystonia, Microphthalmia, Micropenis |
OMIM:308350 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Low-set ears |
OMIM:616570 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Dystonia, Thrombocytopenia |
OMIM:610333 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Anemia, Microphth... |
ORPHA:290 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Throm... |
OMIM:614727 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
| Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Sensorineural hea... |
OMIM:249270 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia |
ORPHA:3327 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of peripheral nerve conduction, Intent... |
ORPHA:48431 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
| Cofs Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Optic atrophy, Hypogonadism |
ORPHA:1466 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Bone Marrow Failure Syndrome 4 |
|
Low-set ears, Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Thrombocytopenia |
OMIM:619151 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
| Intermediate Osteopetrosis |
|
Cranial nerve compression, Hepatosplenomegaly, Anemia, Hypocalcemia, Optic atrophy from cranial n... |
ORPHA:210110 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Anemia,... |
OMIM:617475 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Hearing impairment |
OMIM:120433 |
| Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Optic atrophy, Low-set ears, Microphthalmia, Macrotia |
OMIM:600118 |
| Pierpont Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Microphthalmia, Macrotia, Hearing imp... |
ORPHA:487825 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Optic atrop... |
OMIM:222300 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Optic atrophy, Optic disc pallor |
OMIM:616171 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:274240 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem... |
OMIM:614857 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Pierpont Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Large fleshy ears, Microphthalmia, Micropenis, Hearing ... |
OMIM:602342 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Microtia, Anemia |
OMIM:620184 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Optic disc pallor, Optic disc drusen |
OMIM:611040 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:1617 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Hearing impairment |
OMIM:610023 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:600901 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Tethered cord, Anemia |
OMIM:617244 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Propionic Acidemia |
|
Pancytopenia, Dystonia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia |
OMIM:606054 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Low-set, posteriorly rotated ears, Thrombocytopenia |
ORPHA:1237 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Transient hearing impairment, Abnormal optic disc morphology, Myelitis, Th... |
ORPHA:448237 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Tremor, Cryptorchidism, Optic atrophy, Abnorma... |
ORPHA:90321 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decr... |
OMIM:618278 |
| Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Hype... |
OMIM:617053 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
EEG abnormality, Sensorineural hearing impairment, Thrombocytopenia |
OMIM:616577 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ne... |
ORPHA:101096 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Decreased nerve conduction ve... |
OMIM:214500 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne... |
ORPHA:139578 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Low-set e... |
OMIM:608104 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Cranial nerve compression, Optic atrophy, Hepatosplen... |
OMIM:259710 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Hearing impairment, Sensorineural... |
ORPHA:494 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:227650 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia |
OMIM:600776 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Abnormal spinal cord morphology, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:99947 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Facial paralysis, ... |
OMIM:259700 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Large earlobe |
OMIM:602501 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Tremor, EEG with irregular general... |
ORPHA:1942 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia, Low-set ears |
OMIM:613885 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Facial palsy, Elevated circulating creatine kinase concentration |
OMIM:613155 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hearing impairment |
ORPHA:195 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Lissencephaly 8 |
|
Microphthalmia, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Sensorineural hearing impairment, Optic atrophy |
ORPHA:1473 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cervical myelopathy, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke... |
OMIM:619260 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Cryptorchidism, Aplasia/Hypopl... |
ORPHA:98791 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Tremor, Optic atrophy, Athetosis, Dystonia, Thrombocytopenia |
OMIM:617710 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Low-set ears, Micr... |
ORPHA:85284 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy, Low-set ears, Microcytic anemia |
OMIM:612379 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Low-set ears |
ORPHA:93267 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm |
OMIM:617883 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears, ... |
ORPHA:1438 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Spinal hemangioblastoma, Papillary cystadenoma of the epididymi... |
OMIM:193300 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le... |
ORPHA:3226 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Opisthotonus, Microphthalmia, Micropenis, Decreased te... |
ORPHA:335 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Optic disc pallor, Cryptorchidism |
OMIM:613730 |
| X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, EEG abnormality, Elevated hepatic iron concentration, Thrombocytopenia, Hearing impairment |
OMIM:614946 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
| Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Cryptorchidism, Leukopenia, Microtia, Microphallus, Conductive hearing impairme... |
OMIM:603467 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Sensorineural hearing impairment, Absent circulating B cells |
OMIM:619693 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Small scrotum, Hearing impairment |
OMIM:610756 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Microtia |
ORPHA:2547 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism |
OMIM:620365 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia... |
OMIM:277380 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen |
OMIM:602361 |
| Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Sensorineural hearing impairme... |
ORPHA:3378 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:227645 |
| Vexas Syndrome |
|
Macrocytic anemia, Chondritis of pinna, Elevated circulating C-reactive protein concentration, Se... |
OMIM:301054 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Posterio... |
OMIM:301056 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Optic disc hypoplasia, Overfolded helix, Hypogon... |
OMIM:300514 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... |
ORPHA:160 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Optic disc pallor |
OMIM:251270 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... |
ORPHA:457351 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Micropht... |
OMIM:615663 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Simple ear |
OMIM:619318 |
| Transaldolase Deficiency |
|
Pancytopenia, Clitoral hypertrophy, Splenomegaly, Hepatosplenomegaly, Anemia, Low-set ears, Throm... |
OMIM:606003 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Decreased nerve ... |
ORPHA:167 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, L... |
ORPHA:423479 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Low-set ears, Neutropenia, Microphthalmia, Lymphopenia, Hearing impairment |
OMIM:616395 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombo... |
ORPHA:85212 |
| Deafness, X-Linked 7 |
|
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... |
OMIM:301018 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia |
ORPHA:83601 |
| Alg8-Cdg |
|
Hyponatremia, Optic atrophy, Anemia, Low-set ears, Thrombocytopenia |
ORPHA:79325 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Joubert Syndrome 37 |
|
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Microphthalmia, Micropenis, Decreased tes... |
OMIM:619185 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... |
ORPHA:64743 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Posteriorly rotated ears, Optic disc pallor |
OMIM:300887 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Aplastic anemia, Congenital t... |
OMIM:605432 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Macrotia |
OMIM:619694 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Sensorineural hearing impairment, Low-set ears |
OMIM:618652 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Posteriorly rotated ears, Elevated circulating ... |
OMIM:610377 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Abnormal pinna morphology, Hearing impairment |
OMIM:614583 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Low-set ears... |
ORPHA:2470 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Tick-Borne Encephalitis |
|
Facial palsy, Elevated circulating C-reactive protein concentration, Tremor, Thrombocytopenia, Le... |
ORPHA:297 |
| Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Syringomyelia, Hypoc... |
ORPHA:31150 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention... |
OMIM:254900 |
| Temtamy Syndrome |
|
Microphthalmia, Low-set ears |
ORPHA:1777 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... |
ORPHA:381 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Fatigable weakness, Decreased c... |
ORPHA:99901 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Low-set ears, Micropht... |
OMIM:241410 |
| Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Spina bifida occulta, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia, Hearing impairment |
ORPHA:77298 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Anemia |
OMIM:127000 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Sensorineural hearing impairment, Cryptorchidism |
OMIM:214150 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Giant platelets, Anemia, Microtia, Low-set... |
OMIM:611209 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal pinna morphology, Facial diplegia, Microphthalmia, Microp... |
OMIM:157900 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Cryptorchidism, Hypsarrhythmia, Low-set ears, Microphthalmia, Hearing i... |
OMIM:618494 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... |
OMIM:259720 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, EEG abnormality |
OMIM:614833 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto... |
OMIM:618775 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Cryptorchidism, Hypogonadism, Low-set ears, Microphthalmia |
ORPHA:228390 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Clitoral hypertrophy, Thrombocytopenia |
ORPHA:96181 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchid... |
ORPHA:847 |
| Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Sensorineural hearing impairment, Overfolded helix, Low-set ears, Microphthalmia,... |
OMIM:243310 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:2117 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Microphthalmia, Dystonia |
OMIM:614105 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Low-set ears, Abnormal fallopian... |
ORPHA:2189 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, Th... |
OMIM:614576 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Microphthalmia, Low-set ears |
OMIM:136760 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Decr... |
OMIM:277900 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Micropenis, Anem... |
OMIM:227646 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia |
OMIM:606593 |
| Monosomy 18P |
|
Generalized dystonia, Protruding ear, Abnormal antihelix morphology, Microphthalmia, Macrotia |
ORPHA:1598 |
| Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Cryptorchidism, Optic atrophy, Microphthalmia, He... |
ORPHA:494344 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Abnormal circulating lipid concentration |
ORPHA:3191 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, External ear malformation, Cryptor... |
ORPHA:2505 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Isosexual precocious puberty |
ORPHA:2788 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Braddock-Carey Syndrome 1 |
|
Macrotia, Posteriorly rotated ears, Thrombocytopenia |
OMIM:619980 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Sandestig-Stefanova Syndrome |
|
EEG abnormality, Low-set ears, Angulated antihelix, Microphthalmia, Underdeveloped tragus |
OMIM:618804 |
| Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Fatigable weakness |
ORPHA:169105 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Optic atrophy, Microphthalmia, Micropenis, Macrotia, Dec... |
OMIM:614222 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Thickened helices, M... |
ORPHA:85194 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Thrombocytopenia, Hearing impairment |
OMIM:613990 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Sensorineural hearing impairment, Elevated circulating creatine kinase concentrat... |
OMIM:615249 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Cryptorchidi... |
OMIM:612541 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Asymmetry of the ears, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Mi... |
OMIM:614225 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overfolded helix, Cupped ear, Low-set ears |
OMIM:617101 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:613456 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Adams-Oliver Syndrome |
|
Microphthalmia, Thrombocytopenia, Leukopenia, EEG abnormality |
ORPHA:974 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610125 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Optic atrophy, Protr... |
ORPHA:899 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Anemia, Neutropenia, Lymphope... |
OMIM:242900 |
| Pseudo-Torch Syndrome 1 |
|
Low-set ears, Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:251290 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Hypoplastic labia majora, Atresia of the external ... |
ORPHA:2328 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Sensorineural hearing impairment, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos, Multifocal epileptiform discharges, EEG abnormality, Lo... |
ORPHA:369891 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Optic atrophy, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Low-set ears, Protruding ear |
OMIM:614219 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:170100 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia, Hearing impairment |
ORPHA:2307 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Ane... |
ORPHA:508542 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Microphthalmia, Optic nerve hypoplasia, Neutropenia |
OMIM:609053 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora,... |
ORPHA:2510 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Optic disc coloboma |
OMIM:169550 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Low-set ears, Thrombocytopenia, Hearing impairment |
OMIM:208085 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:905 |
| Noonan Syndrome 4 |
|
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Thickened helices, Thrombocytopenia |
OMIM:610733 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase conce... |
ORPHA:370959 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Sensorineu... |
OMIM:616737 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Cryptorchidism, Microtia, Microphthalmia, Hearing impairment |
ORPHA:2728 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Posteriorly rotated ears, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia, Labial hypop... |
OMIM:147791 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Reduced ... |
OMIM:301040 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)... |
ORPHA:401973 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Spina bifida, Asplenia, Cryptorchidism, Abnormality of the uterus, Low-set e... |
ORPHA:99776 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Overfolded helix, Low-set ears |
OMIM:619339 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Optic atrophy, Protruding ear |
OMIM:152950 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Cupped ear, Low-set ears |
OMIM:167730 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
| Pediatric-Onset Graves Disease |
|
Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:77259 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Thrombocytopenia, Microtia, Anemia |
OMIM:620370 |
| Atelis Syndrome 2 |
|
Protruding ear, Anemia, Low-set ears, Microphthalmia, Thrombocytopenia |
OMIM:620185 |
| Nance-Horan Syndrome |
|
Microphthalmia, Protruding ear |
ORPHA:627 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Hypogonadis... |
OMIM:610651 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Microtia, Low-set ears, Thrombocytopenia |
OMIM:608013 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Leukemia |
ORPHA:99867 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Tremor, Athetosis, Low-set ears, Limb dystonia, Thrombocytopenia |
ORPHA:572798 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
| Lathosterolosis |
|
Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Thrombocytopenia, Hearing... |
ORPHA:46059 |
| Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Low-set ears, Microphthalmia, Micropenis |
OMIM:248700 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Overlap Myositis |
|
Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... |
ORPHA:206572 |
| Refsum Disease |
|
Splenomegaly, Microphthalmia, Sensorineural hearing impairment |
ORPHA:773 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Aganglionic megacolon, Spina bifida, Abn... |
ORPHA:84 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Temtamy Syndrome |
|
Microphthalmia, Lop ear, Low-set ears |
OMIM:218340 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Atrophy of the spinal cord, Opti... |
ORPHA:79282 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Protruding ear, Anemia, Low-set ears, Thrombocytopenia |
OMIM:620072 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Kapur-Toriello Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Low-set ears, Conductive hearing impairment, Microphtha... |
OMIM:244300 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Cryptorchidism, EEG abnormality, Micropenis, Thrombocytopenia |
OMIM:619005 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:225750 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Posteriorly rotated ears, Thrombocytopenia, Cryptorchidism, Microtia, Hypocalcemia, ... |
ORPHA:163979 |
| Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Microphthalmia, Lens coloboma, Progressive senso... |
ORPHA:2791 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Low-set ears, Microphthalmia |
OMIM:206920 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Precocious puberty, Tremor, Op... |
ORPHA:845 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Protr... |
ORPHA:235 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impai... |
ORPHA:79324 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Se... |
OMIM:300972 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tet... |
ORPHA:93325 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Low-set ears, Cryptorchidism |
ORPHA:404440 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Tremor, Optic atrophy, Anemia, Dystonia, Thrombocytopenia |
OMIM:612199 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:90051 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Microtia, Microphthalmia, Vaginal atresia |
ORPHA:3301 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the uterus, Sensorineural hearing impairment, Throm... |
ORPHA:3320 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:93552 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:611961 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia |
OMIM:615758 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Cupped ear |
OMIM:618914 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Abnormal spinal cord morphology, Abnormal sensory nerve conduction velocity |
ORPHA:88628 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Penoscrotal transposition, ... |
OMIM:619148 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Anophthalmia, External ear malformation, Abnormality of the sp... |
ORPHA:2162 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| Fanconi Anemia, Complementation Group L |
|
Anotia, Microtia, Aplasia of the uterus, Low-set ears, Microphthalmia, Micropenis, Anemia |
OMIM:614083 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Low-set ears |
OMIM:300863 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Microtia, Low-set e... |
OMIM:620005 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hypospadias, External ear malformation, Cryptorchidism, Optic ... |
ORPHA:568 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Ohdo Syndrome, X-Linked |
|
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Microtia, Low-set ears, Shawl scrotum, M... |
OMIM:300895 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Uplifted earlobe, Low-set ears, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Spina bifida, Cryptorchidism, Anotia, Abnormal fallopian tu... |
ORPHA:3412 |
| Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Microphtha... |
OMIM:212720 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase... |
OMIM:253800 |
| Shigellosis |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... |
ORPHA:810 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... |
OMIM:206900 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Low-set ears, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears |
OMIM:607597 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Cohen Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Optic atrop... |
ORPHA:193 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Rodrigues Blindness |
|
Microphthalmia, Protruding ear |
OMIM:268320 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Bilateral sensorineural hearing impairment, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Heart And Brain Malformation Syndrome |
|
Attached earlobe, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:616920 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Mic... |
ORPHA:2399 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment |
OMIM:617306 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Lujo Hemorrhagic Fever |
|
Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ... |
ORPHA:319213 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Cranial nerve compression, Opti... |
ORPHA:2785 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Hype... |
OMIM:222700 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Microtia, Low-set ears, Cryptorchidism |
OMIM:612530 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia, Hearing impairment |
OMIM:147750 |
| Fibular Hemimelia |
|
Thrombocytopenia, Anophthalmia, Spina bifida |
ORPHA:93323 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Low-set ears, Microphthalmia, M... |
OMIM:614230 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Low-set ears, Microphthalmia, Hearing impairment |
ORPHA:284160 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Low-set ears, Thrombocytopenia, Microtia, Anemia |
ORPHA:261323 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Abnormal optic disc morphology, Hearing impairment |
ORPHA:891 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Low-set ears, Sensorineural hearing impairment, Thrombocytopenia |
OMIM:612394 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
EEG abnormality, Bilateral microphthalmos, Posteriorly rotated ears, Low-set ears |
OMIM:610758 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cryptorchidism, Optic... |
OMIM:236670 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Cryptorchidism, Protruding ear, Hypoplasia of the iris, Acute lymph... |
OMIM:223370 |
| Adrenomyeloneuropathy |
|
Abnormal circulating fatty-acid concentration, Atrophy of the spinal cord, Abnormal spinal cord m... |
ORPHA:139399 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Pol... |
ORPHA:2298 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Low-set ears |
ORPHA:163966 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... |
ORPHA:699 |
| Joubert Syndrome 14 |
|
Posteriorly rotated ears, Microphthalmia, Optic atrophy, Low-set ears |
OMIM:614424 |
| Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Abnormal spinal cord morphology, EEG with focal slow activity, EEG wi... |
ORPHA:83597 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Displacement of the urethral meatus, ... |
ORPHA:1775 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Macrotia, Low-set ears |
OMIM:615145 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Cryptorchidism, EEG abnormality, Low-set ears, Micropenis, Th... |
OMIM:619004 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Hearing impairment |
ORPHA:2712 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Sensorineural hearing impairment |
ORPHA:435638 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalm... |
OMIM:302960 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Abnormal incisura morphology, Cryptorchidism, Sensorineural hearing impairment, Opti... |
OMIM:122470 |
| Pseudotrisomy 13 Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Bicornuate uterus, Low-set ears, Microphthalmia, Microp... |
OMIM:264480 |
| Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Hearing impairment, Protruding ear |
ORPHA:1806 |
| Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia |
ORPHA:464329 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Spina bifida, Bilateral microphthalmos, Microtia, Ambiguous genitalia |
ORPHA:2839 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, Cryptorchid... |
OMIM:603457 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Low-set ears, Dystonia, Microphthalmia, M... |
OMIM:251300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Hypercholesterolemia, Hypoammonemia, Cryptorchid... |
ORPHA:534 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Meckel Syndrome |
|
Accessory spleen, Low-set, posteriorly rotated ears, Anophthalmia, True hermaphroditism, Asplenia... |
ORPHA:564 |
| Roberts Syndrome |
|
External ear malformation, Thrombocytopenia, Cryptorchidism, Long penis, Microphthalmia, Absent e... |
ORPHA:3103 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Macrotia, Optic atrophy |
OMIM:234050 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears |
ORPHA:35173 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia |
ORPHA:505248 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal circulating fatty-acid concentration, Myelopathy, Abnormal spinal cord morphology, Male ... |
ORPHA:139396 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... |
OMIM:309801 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Low-set ears, Hearing impairment |
ORPHA:251038 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Low-set ears, Protruding ear |
OMIM:620098 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Microphthalmia, Sensorineural hearing impairment |
OMIM:278730 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... |
ORPHA:79255 |
| Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Abnormality of thrombocytes, Spina bifida, Aganglionic megacolon, Splenomegaly, Cryp... |
ORPHA:567 |
| Cousin Syndrome |
|
Posteriorly rotated ears, Ambiguous genitalia, female, Ambiguous genitalia, male, Low-set ears, M... |
OMIM:260660 |
| Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Pr... |
ORPHA:33364 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal conus terminalis morphology, Hyperbilirubinemia |
ORPHA:464321 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:1915 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Optic disc coloboma |
OMIM:120200 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi... |
OMIM:615846 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bicornuate... |
ORPHA:2059 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Blepharospasm, Microtia, Hypoplasia of the th... |
ORPHA:861 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Abnormal vagina morphology, Anemia, Neutropenia |
ORPHA:537 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Abnormality of the peripheral nervous syst... |
ORPHA:1304 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Cryptorchidism, Optic disc coloboma, Choreoathetosis, Low-set ears, Microphthalmia |
OMIM:234100 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Low-set ears, Protruding ear |
OMIM:618571 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Low-set ears, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Optic atrophy, Anemi... |
OMIM:305000 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrotia, Hypospadias, Low-set ears |
ORPHA:65286 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Abnormality of the peripheral nervous system, Abnormal spinal... |
ORPHA:289390 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Macrotia, Hypogonadism, Protruding ear |
OMIM:601675 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Postural tremor, Thrombocytopenia, Hearing impairment |
OMIM:301072 |
| Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Low-set ears, Hypoplastic male external genitalia |
OMIM:608091 |
| Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Sensorineural hearing impairment, Mic... |
OMIM:607323 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Low-set ears, Aplasia of the uterus |
OMIM:619879 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... |
OMIM:601186 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Spina bifida, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Syringomyelia, Ap... |
OMIM:274000 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears, Ambiguous genital... |
OMIM:617666 |
| Degcags Syndrome |
|
Pancytopenia, Hypospadias, Posteriorly rotated ears, Hearing impairment, Congenital hypoplastic a... |
OMIM:619488 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Alport Syndrome 1, X-Linked |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:301050 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Papilledema, Polycythemia, Epididymal cyst |
ORPHA:892 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Spina bifida, Cryptorchidism, Pointed helix, Microphthalmia, A... |
ORPHA:3380 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:613001 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive sensorineural hearing ... |
OMIM:620186 |
| Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Low-set ears |
OMIM:613451 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Microtia, Cupped ear |
ORPHA:1352 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Overfolded helix, Posteriorly rotated ears, Low-set ears |
OMIM:156610 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Microtia, Low-set ear... |
OMIM:614643 |
| Papillorenal Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Optic disc coloboma, Elevated circulating creat... |
OMIM:120330 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Cupped ear, Hypoplastic labia majora, Bicorn... |
OMIM:263650 |
| Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Optic nerve hypoplasia, Low-set ears |
OMIM:243605 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia, Cupped ear |
OMIM:110100 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Increased mean platelet volume, Optic atrophy, Th... |
ORPHA:487796 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Microphthalmia, Male urethral meatus stenosis, Hypospadias |
ORPHA:464738 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous geni... |
ORPHA:1052 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Eosinophilia, Leukocytosis, Optic atrophy, Microphthalmia |
OMIM:308300 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Large earlobe, Low-set ears |
OMIM:257850 |
| Pallister-Hall Syndrome |
|
Posteriorly rotated ears, Precocious puberty, Cryptorchidism, Microtia, Atresia of the external a... |
OMIM:146510 |
| Focal Dermal Hypoplasia |
|
Spina bifida, Hypoplasia of the iris, Low-set ears, Microphthalmia, Hearing impairment |
ORPHA:2092 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous ge... |
ORPHA:2166 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Low-set ears, Microphthalmia, Spina bifida occul... |
OMIM:612109 |
| Nance-Horan Syndrome |
|
Microphthalmia, Macrotia |
OMIM:302350 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Microphthalmia, Congenital conductive hearing impairment |
ORPHA:391474 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... |
ORPHA:2556 |
| Gaucher Disease Type 3 |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
ORPHA:77261 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Q Fever |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:781 |
| Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
| Fryns Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bicornuate uterus, Polysplenia... |
OMIM:229850 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Low-set ears, Microphthalm... |
OMIM:273395 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Torticollis, Hypospadias, Cryptorchidism, Cupped ear, Overfolded helix, Clitoral h... |
OMIM:609945 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Gaucher Disease |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Tremor, Thrombocytopenia, Sp... |
ORPHA:355 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Hypoalbuminemia, Low-set ears |
OMIM:617729 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Macrotia, Thrombocytopenia |
OMIM:251260 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613150 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Splenomegaly, Adult onset sensorineural hearing impairment, Conductive hearing... |
ORPHA:90324 |
| Charge Syndrome |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Anophthalmia, Hypogonadotropic hypogonadism, Fa... |
ORPHA:138 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm... |
ORPHA:480520 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Asplenia, Splenomegaly, Cryptorchidism, Ambiguous ... |
OMIM:249000 |
| Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... |
ORPHA:340 |
| Ogden Syndrome |
|
Torticollis, Cryptorchidism, Protruding ear, Hydrocele testis, Iron deficiency anemia, Hyperbilir... |
OMIM:300855 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Cryptorchidism |
ORPHA:250989 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Macrotia, Thrombocytopenia |
ORPHA:647 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias,... |
ORPHA:2052 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Low-set ears, Cryptorchidism |
ORPHA:251014 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Spina bifida, Facial palsy, Abnormal optic disc morphology, ... |
ORPHA:508498 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Macrotia, Cryptorchidism |
OMIM:616300 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Abnormality of the spleen, Splenomegaly, Sensorineural hearing impairm... |
ORPHA:2072 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
| Monosomy 9P |
|
Hypospadias, Cryptorchidism, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the exte... |
ORPHA:261112 |
| Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Decreased nerve conduction ve... |
ORPHA:191 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Increased circul... |
OMIM:619991 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Cryptorchidism, Aplasia/Hypoplasia of the earlob... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Septate vagina, Uterus didelphys, Microtia, Low-set ears, Microphthalm... |
OMIM:617925 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Optic atrophy |
OMIM:618727 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617527 |
| Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Eosinophilia |
ORPHA:464 |
| Aicardi Syndrome |
|
Precocious puberty, Optic disc coloboma, Optic atrophy, Protruding ear, EEG abnormality, Micropht... |
ORPHA:50 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Low-set ears |
OMIM:251230 |
| Phace Association |
|
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
| Mycophenolate Mofetil Embryopathy |
|
Anotia, Microtia, Atresia of the external auditory canal, Microphthalmia, Hearing impairment |
ORPHA:268249 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Prominent antihelix, Microphthalmia, Microp... |
OMIM:610829 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentration, Hypoplasia of the... |
OMIM:175780 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Sensorineural h... |
OMIM:616975 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
| Charge Syndrome |
|
Mixed hearing impairment, Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasi... |
OMIM:214800 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... |
ORPHA:50918 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Microphthalmia |
ORPHA:2538 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Microtia,... |
OMIM:616734 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Underfolded helix, Cryptorchidism, Prominent antihelix, Hypogonadism, Microphthalmia, Overfolded ... |
OMIM:268400 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc colobo... |
ORPHA:959 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Sensorineural hearing impairment |
OMIM:601812 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Small earlobe, Hearing impairment |
ORPHA:364577 |
| Aicardi Syndrome |
|
Spina bifida, Precocious puberty, Optic disc coloboma, Optic atrophy, Microphthalmia |
OMIM:304050 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Tremor, Chronic lymphatic leukemia, Hepatosplenomegaly, Low... |
ORPHA:51 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Hypotriglyceridemia |
ORPHA:85167 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, EEG abnormality |
ORPHA:2612 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Small earlobe, Hypoplastic helices, Low-set ears |
OMIM:272950 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Thickened ears, Ovarian fibroma, Low-set ears |
ORPHA:77301 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Large earlobe, Hypoplasia of the ear cartilage |
ORPHA:1236 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
| Cat Eye Syndrome |
|
Microphthalmia, Low-set ears, Hearing impairment |
OMIM:115470 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Optic atrophy, Protruding ear, Microphthalmia, Leukemia |
ORPHA:2526 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Crypto... |
ORPHA:468631 |
| Chromosome 13Q14 Deletion Syndrome |
|
Anteverted ears, Cryptorchidism, Low-set ears, Microphthalmia, Micropenis, Hearing impairment |
OMIM:613884 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Orchitis, Splenom... |
ORPHA:99827 |
| Momo Syndrome |
|
Bilateral microphthalmos, Underfolded helix |
ORPHA:2563 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Optic atrophy, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Abnormality of the vestibulocochlear... |
ORPHA:247245 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Facial palsy, Increased red blood cell count |
ORPHA:68 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Precocious puberty, Crypto... |
ORPHA:438213 |
| Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Large earlobe, Microphthalmia, ... |
ORPHA:1106 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Posteriorly rotated ears, Septate vagina, Asymmetry of the ears, Antev... |
OMIM:300166 |
| Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Facial palsy, Abnormal reproductive system morphol... |
ORPHA:797 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Oculo-Palato-Cerebral Syndrome |
|
Thickened helices, Microphthalmia, Macrotia |
ORPHA:2714 |
| Steinfeld Syndrome |
|
Microphthalmia, Abnormal pinna morphology, Hearing impairment |
OMIM:184705 |
| Floating-Harbor Syndrome |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Glandular hypospadias, Low-set ears, Epidi... |
OMIM:136140 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, EEG abnormality, ... |
OMIM:253280 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Low-set ears, Thrombocytopenia |
OMIM:619525 |
| Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Cupped ear, Protruding ear, Microphthalmia, Macrotia, Decreased testicular... |
OMIM:309500 |
| Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Bilateral microphthalmos, C... |
OMIM:219000 |
| Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Mild hearing impairment, Thr... |
OMIM:301068 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Tethered cord, Hypospadias, Posteriorly rotated ears, Cryptorchidis... |
OMIM:619522 |
| Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Microphthalmia, Abnormal pinna morphology |
OMIM:164200 |
| Yunis-Varon Syndrome |
|
Hypospadias, Abnormal pinna morphology, Cryptorchidism, Bilateral microphthalmos, Hypoplastic lab... |
ORPHA:3472 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Osteogenesis Imperfecta |
|
Mixed hearing impairment, Syringomyelia, Progressive hearing impairment, Thrombocytopenia, Hearin... |
ORPHA:666 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:649 |
| Digeorge Syndrome |
|
Splenomegaly, Anemia, Ovarian cyst, Hydrocele testis, Hypoplasia of the thymus, Hypocalcemia, Low... |
OMIM:188400 |
| Myhre Syndrome |
|
Cryptorchidism, Microtia, Low-set ears, Microphthalmia, Hearing impairment |
OMIM:139210 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Cochlear malformation, Low-set ears, Epididymal ... |
ORPHA:2044 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Low-set ears, Microphthal... |
OMIM:236680 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2108 |
| Focal Dermal Hypoplasia |
|
Mixed hearing impairment, Anophthalmia, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Labia... |
OMIM:305600 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, External ear malformation... |
ORPHA:857 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Hypoplastic labia majora, Low-set ears, ... |
OMIM:612289 |
| Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Cryptorchidism, ... |
OMIM:163950 |
| Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
| Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... |
OMIM:309000 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
| Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, Auricular tag, Precocious puberty,... |
ORPHA:672 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, Optic disc coloboma, Microphth... |
ORPHA:141099 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Uplifted earlobe, Posteriorly rotated ears, Cry... |
OMIM:607932 |
| Mosaic Trisomy 20 |
|
Cryptorchidism, Abnormal spinal cord morphology, Hearing impairment |
ORPHA:1724 |
| Witteveen-Kolk Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Uplifted earlobe, Phimosis, Sensorineural hearing impairm... |
OMIM:613406 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Bifid uterus, Cryptorchidism, Low-set ears, Microphthalmia, Macrotia |
OMIM:256520 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:3186 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Facial palsy, Posteriorly rotated ears, Cryptorchidism, Sensorineural ... |
OMIM:113620 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Sensorineural hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:608670 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Thrombocytopenia |
ORPHA:79078 |
| Holoprosencephaly 7 |
|
Microphthalmia, Macrotia, Bilateral microphthalmos |
OMIM:610828 |
| Monosomy 13Q14 |
|
Thickened helices, Microphthalmia, Low-set ears, Protruding ear |
ORPHA:1587 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Sensorineural hearing impairment, Protruding ear, Low-set ears, Microphthalmia, Simple ear |
OMIM:612474 |
| Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
| Leptospirosis |
|
Papilledema, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Posteriorly rotated ears, Abnormal pinna mo... |
OMIM:268300 |
| Acute Liver Failure |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:90062 |
| Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Microtia, Atresia of the external auditory canal, Condu... |
OMIM:154500 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Microphthalmia, Low-set, posteriorly rotated ears |
ORPHA:306542 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Webbed penis, Septate vagina, Asplenia, Crypto... |
ORPHA:2152 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Unilateral deafness, Lens coloboma, Cupped ear, Anterior creases of earl... |
OMIM:619539 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Uplifted earlobe, Cryptorchidism, Cupped ear, ... |
OMIM:235730 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Webbed penis, Septate vagina, Asplenia, Crypto... |
ORPHA:261537 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia, Imperforate hymen |
OMIM:100300 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Webbed penis, Septate vagina, Asplenia, Crypto... |
ORPHA:261552 |
| Tetrasomy 9P |
|
Cryptorchidism, Abnormal spinal cord morphology, Abnormal earlobe morphology, Oligozoospermia, Mi... |
ORPHA:3310 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
| Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
| 8Q24.3 Microdeletion Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ears, Bilateral microphthalmos... |
ORPHA:508488 |
| Limb Body Wall Complex |
|
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Abnormal pinna morphology, Aganglionic megacolon, Cryptorchidism, Opti... |
OMIM:309800 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditor... |
OMIM:164210 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
