Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... |
OMIM:615631 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... |
ORPHA:98870 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Grow... |
OMIM:615234 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Atransferrinemia |
|
Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc... |
OMIM:224120 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
OMIM:613313 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract |
OMIM:300719 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Optic atrophy |
OMIM:165199 |
Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Megaloblastic anemia |
OMIM:243320 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblasti... |
OMIM:229100 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Hypertrophic Neuropathy And Cataract |
|
Cataract, Distal sensory impairment |
OMIM:239900 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Impaired pain sensation, Impaired distal vibration sensation, Optic atrophy, P... |
OMIM:618511 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Gait disturbance, Distal sensory impairment |
OMIM:615043 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia |
OMIM:609055 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Short stature, Anemia |
ORPHA:1551 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,... |
ORPHA:170 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... |
OMIM:600462 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia |
OMIM:604290 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia |
OMIM:606069 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Somatic sensory dysfunction, Optic atrophy |
OMIM:615658 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Optic atrophy, Premature... |
ORPHA:33445 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Cataract, Optic atrophy |
OMIM:620312 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m... |
OMIM:609628 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia |
OMIM:238700 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Gait ataxia, Fair hair, Developmental cataract |
OMIM:618808 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... |
OMIM:221900 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Retinal pigment ep... |
OMIM:619389 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay |
ORPHA:251066 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy |
OMIM:618572 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Dysequilibrium Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:1766 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:209919 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:54028 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:2815 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Sensory a... |
OMIM:620221 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Growth delay, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Distal sensory impairment |
OMIM:616451 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Gait disturbance |
OMIM:616859 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis |
OMIM:200150 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils |
ORPHA:2760 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Optic atrophy, Dystonia |
OMIM:271930 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst... |
OMIM:236270 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Postural tremor, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Cataract |
OMIM:615995 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Hyperhomocystinemia, Megaloblastic anemia |
OMIM:250940 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy, Ataxia |
OMIM:608611 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia |
OMIM:618852 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia |
OMIM:616457 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Elevated circulating C-reactive protein concentration, Short stature, Hypochromic microcytic anemia |
OMIM:619423 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short stature |
ORPHA:2522 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Growt... |
OMIM:608885 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Microcytic anemia |
ORPHA:79278 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory i... |
OMIM:612674 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hypochromic microcytic anemia, Growth delay, Hyperalaninemia, Anemia |
OMIM:619147 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal de... |
OMIM:204200 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Short stature, Hyperammonemia, Growth delay, Iron deficiency anemia, Hypoalbuminemi... |
ORPHA:1667 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thromb... |
ORPHA:3240 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy, Ataxia, Cataract |
ORPHA:329314 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ... |
ORPHA:3437 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Chylomicron Retention Disease |
|
Growth delay, Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressi... |
OMIM:164500 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Short stature |
OMIM:607906 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Iron deficiency anemia, Decreased serum c... |
OMIM:618885 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla... |
OMIM:105600 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor |
OMIM:614307 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Ataxia, Dystonia |
ORPHA:1171 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... |
ORPHA:280921 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey... |
ORPHA:2885 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Intrauterine growth retardation |
ORPHA:295 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthoc... |
ORPHA:96180 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Alpha-Heavy Chain Disease |
|
Growth delay, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Postnatal growth retardation, Iron deficiency anemia, Hypocalce... |
OMIM:212750 |
Camos Syndrome |
|
Optic atrophy, Ataxia |
ORPHA:83472 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ... |
OMIM:615035 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Impaired distal proprioception, Impaired vibration sensation in the lo... |
OMIM:270800 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... |
OMIM:609033 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat... |
OMIM:618372 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Impaired vibration sensation in the lower limbs, Peripheral axonal neuropathy, Optic atrophy, Dif... |
ORPHA:320360 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Mcleod Syndrome |
|
Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Acan... |
OMIM:300842 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... |
OMIM:311070 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Frontal upsweep of hair, Optic atrophy, Ataxia |
OMIM:300983 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay |
OMIM:612561 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Spastic gait, Hemidystonia |
OMIM:619052 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619046 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Spastic gait |
ORPHA:320396 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:619013 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Nescav Syndrome |
|
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:614255 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Isolated Sedoheptulokinase Deficiency |
|
Severe postnatal growth retardation, Hypochromic microcytic anemia, Short stature, Anemia |
ORPHA:440713 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Small nail |
OMIM:619470 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia |
OMIM:613561 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Conjugated hyperbiliru... |
ORPHA:168577 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia |
ORPHA:3156 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytosis, Hypochromi... |
OMIM:259720 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Gait ataxia |
OMIM:619323 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Blue irides, Hypopigmented skin pa... |
OMIM:277580 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature, Thrombocytopenia |
OMIM:249270 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Optic atrophy, Focal dystonia, Gait disturbance, Limb dystonia, Oromandibular dys... |
ORPHA:216873 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hyperhomocystin... |
ORPHA:2169 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropeni... |
OMIM:617243 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Ataxia, Rod-cone dystrophy, Alopecia of scalp |
OMIM:136300 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking |
ORPHA:468661 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Macular degeneration, Progr... |
ORPHA:284289 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea, Cataract |
OMIM:601372 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating glutaric acid concentration, Hypochromic microcytic anemia, Normochromic mic... |
ORPHA:66634 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Growth delay, Normochromic anemia... |
OMIM:614857 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy |
OMIM:617830 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conducti... |
ORPHA:99014 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosp... |
OMIM:619750 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
3-Methylglutaconic Aciduria, Type Iii |
|
Chorea, Optic atrophy, Ataxia |
OMIM:258501 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatosplenomegaly |
ORPHA:99931 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
Amme Complex |
|
Intrauterine growth retardation, Elliptocytosis |
OMIM:300194 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... |
ORPHA:79432 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Ataxia, Abnormal hair morphology, Optic atrophy, Coloboma, Spott... |
ORPHA:324737 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Impaired distal vibration sensation, Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, S... |
OMIM:616680 |
Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:605259 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Pancreatic Colipase Deficiency |
|
Growth delay, Megaloblastic anemia |
ORPHA:309108 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Tremor, Abnormality of macular pi... |
ORPHA:97229 |
Cataract 11, Multiple Types |
|
Chorea, Cataract, Developmental cataract |
OMIM:610623 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Limb tremor, Dysm... |
OMIM:614877 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Truncal titubation, Axonal degeneratio... |
ORPHA:88628 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:224050 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short stature, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:611881 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels |
OMIM:617082 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia of inadequate production |
OMIM:612714 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Hypermelanotic macule |
OMIM:609056 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract, Ataxia |
OMIM:278780 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:613672 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut... |
OMIM:617056 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Impaired temperature sen... |
OMIM:619686 |
4H Leukodystrophy |
|
Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia |
OMIM:616435 |
Triple A Syndrome |
|
Generalized hyperpigmentation, Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia |
OMIM:302060 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait |
OMIM:613162 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Optic atrophy, Ataxia, Dystonia |
OMIM:619310 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Short stature, Microcytic anemia |
ORPHA:98791 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy, Low posterior hairline |
ORPHA:3456 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Short Stature With Microcephaly And Distinctive Facies |
|
Severe short stature, Anisopoikilocytosis, Anemia |
OMIM:615789 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Agang... |
ORPHA:897 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Ataxia, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia |
OMIM:617954 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
Majeed Syndrome |
|
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia |
ORPHA:77297 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developm... |
OMIM:617183 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... |
OMIM:194380 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Dysmetria, Titubation, Astigmatism, Temporal optic disc pallor |
ORPHA:459056 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Growth delay, Anemia, Decreased serum zinc, Decreased circulating carnitine... |
ORPHA:89842 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Optic atrophy, Leber optic atrophy, Dystonia |
OMIM:500001 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Dystonia |
OMIM:615338 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Synophry... |
ORPHA:2884 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Intrauterine growth retardation, Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:606176 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Immunodeficiency 96 |
|
Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair |
ORPHA:1264 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Gait disturban... |
OMIM:210000 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine growth retardation |
OMIM:618947 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr... |
OMIM:301074 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy |
ORPHA:411590 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... |
ORPHA:101330 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Paresthes... |
ORPHA:466794 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia |
OMIM:255125 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:610198 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Normochromic anemia, Elevated circulating creatine kinase concen... |
OMIM:618775 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Dysmetria, Microcornea, Long eyelashes, Abnormality of peripheral nerve conduct... |
ORPHA:48431 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Ataxia, Macular dystrophy, Retinopathy |
ORPHA:225 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:1466 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Tremor, Inability to ... |
OMIM:617988 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Dystonia, Abnormal periphe... |
ORPHA:457205 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemi... |
OMIM:222470 |
Wolfram Syndrome 1 |
|
Growth delay, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Short stature, Granulocytopenia |
OMIM:606164 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy |
OMIM:617086 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Woods Syndrome |
|
Supernumerary nipple, Optic atrophy, Broad nail, Hypoplastic fifth toenail, Lingual dystonia, Fro... |
OMIM:615236 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614559 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Shuffling gait, ... |
ORPHA:228346 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Athetosis, Hypopigmentation of the skin |
OMIM:257800 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ... |
ORPHA:414 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:618858 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma |
ORPHA:163937 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Cataract |
OMIM:601794 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia |
OMIM:264470 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
2Q24 Microdeletion Syndrome |
|
Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Astigmatism |
OMIM:619328 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Microc... |
OMIM:612073 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Optic atrophy, Retinal dysplasia, Gait disturbance |
ORPHA:272 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Abno... |
ORPHA:465508 |
Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Niemann-Pick Disease, Type A |
|
Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histiocytosis |
OMIM:257200 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Distal sensory impairment, Opti... |
ORPHA:254886 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... |
OMIM:301040 |
Baralle-Macken Syndrome |
|
Cataract, Inability to walk, Dystonia, Cafe-au-lait spot, Hirsutism |
OMIM:619255 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:411515 |
Hsd10 Disease |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance |
ORPHA:391417 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... |
OMIM:619260 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Chorea, Optic atrophy, Difficulty walking, ... |
ORPHA:401768 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro... |
OMIM:612562 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract |
ORPHA:250984 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:610582 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Short stature, Megaloblastic anemia, Hyperhomocystinemia, A... |
OMIM:277380 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Optic atrophy, Microco... |
OMIM:234050 |
Syndromic Diarrhea |
|
Short stature, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormalit... |
ORPHA:84064 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Growth delay, Elevated circulating ... |
ORPHA:79284 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... |
ORPHA:216866 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microcornea, Facial hypertrichosis, Hypertrichosis |
OMIM:600118 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Cataract, Choreoathetosis, Dystonia |
OMIM:614932 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Ataxia |
OMIM:236792 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Cataract, Impaired distal proprioception, Decreased nu... |
OMIM:162400 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration |
OMIM:235200 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth retardation |
ORPHA:46059 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia |
OMIM:612319 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia |
OMIM:611489 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
Infantile Refsum Disease |
|
Cataract, Ataxia, Facial palsy, Optic atrophy, Rod-cone dystrophy |
ORPHA:772 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Progressive cerebella... |
ORPHA:98755 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy |
ORPHA:254343 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia |
OMIM:269200 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Retinopathy |
OMIM:619422 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Inability to walk, Cataract, Optic atrophy |
OMIM:617481 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait ataxia, Arm ... |
OMIM:601338 |
Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance |
OMIM:618012 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Lissencephaly 5 |
|
Cataract, Optic atrophy |
OMIM:615191 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypo... |
ORPHA:2611 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Attenuation of retin... |
OMIM:617166 |
Prune1-Related Neurological Syndrome |
|
Retinopathy, Inability to walk, Cataract, Optic atrophy |
ORPHA:544469 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract, Dysmetria |
OMIM:619780 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Iron deficiency anemia |
ORPHA:309031 |
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 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Intrauterine growth retardation, HbH hemoglobin, Short... |
ORPHA:423479 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Cataract, Impaired vibration sensation in the lower limbs, Hand tre... |
OMIM:614409 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia |
ORPHA:2038 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Unsteady gait, Optic atrophy, Ataxia, Dystonia |
OMIM:245349 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased nerve conduction velocity, A... |
ORPHA:101082 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Optic atrophy, Dystonia |
OMIM:618238 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Anemia, Leukopen... |
ORPHA:2785 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Aplasia/Hypopl... |
ORPHA:2714 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:329284 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait disturbance, Limb dys... |
ORPHA:508093 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Generalized hypertrichosis, Loss of ... |
ORPHA:93399 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Chorea, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopath... |
OMIM:617282 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... |
ORPHA:496790 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:616329 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis |
OMIM:617235 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
3-Methylglutaconic Aciduria, Type I |
|
Athetosis, Optic atrophy, Ataxia, Dystonia |
OMIM:250950 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Tremor, Inability to walk, Development... |
ORPHA:99956 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Dystonia |
OMIM:300475 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dystonia |
OMIM:618230 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Postural tremor, Ataxia, Head titubation, Optic atrophy, Opto-chias... |
OMIM:615491 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran... |
ORPHA:91500 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Short stature |
OMIM:617101 |
Peutz-Jeghers Syndrome |
|
Iron deficiency anemia |
OMIM:175200 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia |
OMIM:252011 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Impaired vibration sensation at ankles, Cataract, Gait disturbance, Dystonia |
ORPHA:101006 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy, Gait ataxia |
OMIM:618800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Growth delay, Iron deficiency anemia, Decreased seru... |
ORPHA:79408 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Optic atrophy, Impaired pro... |
ORPHA:95 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Persisten... |
OMIM:617052 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... |
ORPHA:894 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Ataxia, Tremor, Optic atrophy, Dysmetria, Dystonia, Loss of ambulation |
OMIM:607694 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves... |
ORPHA:637 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Short stature |
OMIM:530000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia |
ORPHA:100075 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Cataract, Ataxia, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma |
OMIM:613153 |
Sarcosinemia |
|
Optic atrophy, Ataxia |
ORPHA:3129 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Short stature, Elevated circulating creatine kinase concentration,... |
OMIM:610377 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Torticollis, Ataxia, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy |
OMIM:618547 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Impaired distal proprioception, Tremor, Unsteady ga... |
ORPHA:137898 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract |
OMIM:613730 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Somatic sensory dysfunction, Optic atrophy, Impaired vibration sensation in th... |
ORPHA:99013 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
Sclerosteosis |
|
Fingernail dysplasia, Optic atrophy, Facial palsy |
ORPHA:3152 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Microcytic anemia, Severe postnatal growth retardation, Delayed puberty, Moderate ... |
ORPHA:293967 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... |
ORPHA:90354 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dystonia, Loss of ambulation |
ORPHA:225154 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Somatic sensory dysfunction |
ORPHA:1177 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Optic atrophy |
OMIM:617933 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Filippi Syndrome |
|
Optic atrophy, Dystonia, Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, L... |
OMIM:271245 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Gait disturbance |
ORPHA:588 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Development... |
ORPHA:93400 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Lissencephaly 8 |
|
Cataract, Optic atrophy |
OMIM:617255 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patch... |
OMIM:308300 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Ataxia, Impaired distal proprioception, Optic atrophy, Impaired vibration sensat... |
ORPHA:447896 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Classic Phenylketonuria |
|
Tremor, Hypopigmentation of hair, Cataract, Hypopigmentation of the skin |
ORPHA:79254 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Chorea, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:79097 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation |
OMIM:620089 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
ORPHA:139507 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Loss of ambulation, Intention tremor |
OMIM:617951 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Hypertrichosis |
OMIM:256000 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... |
OMIM:250250 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Waddling gait, Impaired vibration sensation in the lower limbs, Optic atrophy, Dy... |
OMIM:607259 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Dist... |
ORPHA:101076 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
Glucagonoma |
|
Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Ataxia, Impaired pain sensation, Rod-cone dystrophy |
ORPHA:2047 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia |
ORPHA:90308 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Ataxia, Optic disc pallor |
OMIM:615281 |
Lesch-Nyhan Syndrome |
|
Short stature, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... |
ORPHA:1215 |
Achondrogenesis Type 2 |
|
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract |
ORPHA:93296 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Short stature, Elevated hemoglobin A1c |
OMIM:616113 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long... |
OMIM:617523 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait... |
ORPHA:95433 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Short stature, Disproportionate short-trunk short stature |
ORPHA:93315 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Optic atrophy, Supernumerary nipple |
ORPHA:1173 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Nail dysplasia, I... |
ORPHA:139471 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni... |
OMIM:615512 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Distal senso... |
OMIM:616505 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po... |
ORPHA:85194 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Fre... |
OMIM:610651 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy, Cataract, Ataxia |
ORPHA:79095 |
3-Methylglutaconic Aciduria, Type Ix |
|
Choreoathetosis, Long eyelashes, Optic atrophy |
OMIM:617698 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Hyperpigmentation of the skin, Ataxia, Optic atrophy, Anisocoria, Abnorm... |
OMIM:231550 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula... |
OMIM:614077 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Optic atrophy, Coa... |
ORPHA:585 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Elliptocytosis, Anemia |
OMIM:300990 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy |
OMIM:619527 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Delayed puberty |
ORPHA:358 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... |
OMIM:164400 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia |
ORPHA:100078 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Short stature, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Isolated Atp Synthase Deficiency |
|
Cataract, Ataxia, Optic atrophy, Dystonia, Rod-cone dystrophy |
ORPHA:254913 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Optic atrop... |
ORPHA:52368 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Ataxia, Cataract |
OMIM:614879 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, Ataxia |
ORPHA:2289 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Low anterior hairlin... |
OMIM:615663 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Hand tremor, Gait disturbance, Shuffling gait, Dystonia, Motor axonal neuropathy |
ORPHA:289560 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia |
ORPHA:1947 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Alopecia of scalp... |
OMIM:615280 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance,... |
ORPHA:812 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c... |
ORPHA:100 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Persistence of hemoglobin F, Anemia, Neutrop... |
OMIM:260400 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Hypocalcemic seizures, Hyperphosphatem... |
ORPHA:93325 |
Warburg Micro Syndrome 3 |
|
Cataract, Inability to walk, Optic atrophy, Low anterior hairline, Developmental cataract, Microc... |
OMIM:614222 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Chorea, Optic atrophy, Dystonia |
ORPHA:289916 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Revesz Syndrome |
|
Ataxia, Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Exudative retinopat... |
OMIM:268130 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy |
ORPHA:263516 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Cach Syndrome |
|
Cataract, Optic atrophy, Dysmetria, Limb ataxia, Optic neuritis, Truncal ataxia |
ORPHA:135 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia |
ORPHA:261584 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration |
ORPHA:247691 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:617664 |
Arts Syndrome |
|
Optic atrophy, Ataxia |
OMIM:301835 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... |
OMIM:105650 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Ataxia |
ORPHA:401866 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma |
ORPHA:207 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray hair, Tremor, ... |
OMIM:214500 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Optic atrophy, Low anterior hairline, Developmental cataract, Small nail |
OMIM:614219 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea |
ORPHA:70472 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Difficulty walking, Retinal degeneration |
ORPHA:442835 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroide... |
ORPHA:2719 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... |
OMIM:612843 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Loss of ambulation |
OMIM:607371 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... |
ORPHA:1867 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Blepharonasofacial Malformation Syndrome |
|
Abnormal eyelash morphology, Optic atrophy, Torsion dystonia, Low posterior hairline, Sparse late... |
ORPHA:1252 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Intrauterine growth retardation |
ORPHA:79351 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy, Long eyelashes |
OMIM:617276 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ogden Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Iron deficiency anemia, Hyperbilirubin... |
OMIM:300855 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Facial palsy, Impaired distal proprioception, Impaired distal vibration sensation, Optic atrophy,... |
OMIM:258450 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Severe short stature, Short stature, Hyperphosphatemia, Hypocalcemia,... |
OMIM:127000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Intention tr... |
OMIM:614381 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:411511 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Ataxia, Impaired pain sensation, Abnormal pupil morphol... |
ORPHA:1764 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria |
OMIM:618233 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Short stature, Growth delay, Polysplenia, Intrauterine growth retardation |
OMIM:614294 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi... |
OMIM:617302 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Athetosis, Dystonia, Rod-cone dystrophy |
OMIM:617710 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Cataract, Ataxia, Optic atrophy, Long eyelashe... |
OMIM:619833 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... |
ORPHA:899 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased serum zinc, Short stature |
OMIM:201100 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... |
ORPHA:1493 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Delayed puberty, Hist... |
ORPHA:168569 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy |
ORPHA:1914 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Short stature, Delayed puberty, Microcytic anemia |
ORPHA:2959 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... |
ORPHA:508542 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor, Thick eyebrow, Dystonia |
OMIM:617762 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Optic atrophy, Dystonia |
OMIM:618868 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Optic atrophy, Dystonia |
OMIM:614739 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... |
OMIM:267750 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... |
OMIM:619488 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Inability to walk, Astigmatism, Retinal coloboma, Horizontal eyebrow, Gait disturbance,... |
OMIM:618571 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Thick hair, Tremor, Dysmetria, Pigmentary retinop... |
ORPHA:502423 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Dystonia, P... |
OMIM:250100 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... |
OMIM:277900 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Astigmatism, Optic atrophy, Low anterior hairline, Dystonia |
OMIM:616875 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Marinesco-Sjögren Syndrome |
|
Cataract, Optic atrophy, Ataxia |
ORPHA:559 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Nail dysplasia, Retinopathy |
ORPHA:773 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atroph... |
ORPHA:72 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Tremor, Optic atrophy, Gait... |
OMIM:614298 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Gait imbalance, Hypopigmentation of t... |
ORPHA:98794 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Ataxia, Optic atrophy, Head tremor |
ORPHA:314404 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Optic atrophy, Dystonia |
ORPHA:79312 |
Charcot-Marie-Tooth Disease Type 1E |
|
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Abnormal ... |
ORPHA:90658 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... |
OMIM:216900 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Thick eyebrow, Fundus atrophy, Synophrys, Optic atrophy, Broad nail, Hirsutism |
ORPHA:1970 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat... |
ORPHA:2969 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia |
ORPHA:702 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Dystonic gait, Optic atrophy, Low anterior hairline, Astigmatism, Vitiligo |
ORPHA:480898 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Growth delay, Intrauterine growth retardation, Decreased serum zinc, Hepatosplenomegaly |
ORPHA:541423 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Optic atrophy, Distal sensory impairment, Facial diplegia, Facial paralysis |
OMIM:613559 |
Incontinentia Pigmenti |
|
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, ... |
ORPHA:464 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Vestibular areflexia, Astigmatism |
ORPHA:886 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Ataxia, Unsteady gait, Optic atrophy, Gait disturbance, Diffuse axo... |
ORPHA:35069 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Tr... |
OMIM:619259 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy |
OMIM:616811 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Impaired distal vibration sensation, Cataract, Gait disturbance |
OMIM:616586 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Gene... |
ORPHA:2510 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Ataxia, Abnormal retinal vascular morphology, Tremor, Unst... |
ORPHA:354 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... |
ORPHA:3440 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat... |
OMIM:227645 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism |
OMIM:618727 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia |
OMIM:256600 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea |
OMIM:614225 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphol... |
ORPHA:2707 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Splenomegaly, Leukemia, Abnormality of neutrophils |
ORPHA:33226 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Distal Deletion 13Q |
|
Optic atrophy, Iris coloboma |
ORPHA:1590 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Ataxia, Hypermelanotic macule, Tremor, Optic atrop... |
ORPHA:90321 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract |
OMIM:620185 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Astigmatism |
OMIM:619576 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Ataxia |
OMIM:172850 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Intrauterine growth retardation |
OMIM:615190 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cataract, Optic atrophy, Ataxia, Gait ataxia |
ORPHA:543470 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Generalized hypopigmentation |
OMIM:617306 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:612291 |
Oculodentodigital Dysplasia |
|
Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Ataxia, Op... |
ORPHA:2710 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Short stature, Microcytic anemia, Leukocytosis, Intrauterine growth retardation, An... |
ORPHA:99843 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... |
OMIM:193500 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, I... |
ORPHA:466768 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy |
ORPHA:496756 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor |
OMIM:609053 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma |
ORPHA:3301 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Abnormality of hair pigmentation |
OMIM:618156 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Short stature, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Ataxia, Difficulty walking, Abnormality of central somatosensory evo... |
OMIM:213700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... |
ORPHA:79430 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Hyperhomocystine... |
ORPHA:79282 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Cataract, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence... |
OMIM:240300 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Dystonia, Optic atrophy, Opisthotonus |
OMIM:277470 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... |
ORPHA:233 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Fine hair, Premature graying of hair, Exud... |
OMIM:612199 |
Vipoma |
|
Normochromic anemia, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Limb ataxia, Choreoathetosis, Long eyelashes, Difficulty walking, Dystonia |
OMIM:617595 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m... |
ORPHA:1571 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Tremor, Optic disc pallor, Ataxia, Dysmetria |
OMIM:618527 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227990 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Hypermelanotic macule, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Chore... |
OMIM:278800 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Dr... |
ORPHA:90324 |
Short Syndrome |
|
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... |
ORPHA:3163 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacolon, Atax... |
OMIM:209900 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ... |
OMIM:619539 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Postnatal growth retardation, Splenomegaly, Hypomagnesemia, Hypoph... |
ORPHA:699 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Optic atrophy, Progressive gait ataxia, Falls, Loss of ambulation |
ORPHA:329308 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227982 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... |
OMIM:236670 |
Werner Syndrome |
|
Alopecia of scalp, Cataract, Retinal degeneration |
OMIM:277700 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... |
OMIM:614863 |
Congenital Tufting Enteropathy |
|
Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract |
ORPHA:92050 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Facial palsy, Retinal arteriolar tortuosity, Sparse eyeb... |
OMIM:230740 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Elevated circulating creatine kinase concentrati... |
ORPHA:2388 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensory dysfunction, Ataxi... |
ORPHA:167 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Intention tremor |
OMIM:610217 |
Cockayne Syndrome |
|
Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Lentiglobus, Retinal degenera... |
ORPHA:191 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Chops Syndrome |
|
Curly hair, Cataract, Thick hair, Synophrys, Optic atrophy, Coarse hair, Long eyelashes, Thick ey... |
OMIM:616368 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Optic atrophy, Ataxia |
OMIM:253260 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Agel Amyloidosis |
|
Cataract, Ataxia, Facial palsy, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Lattice ... |
ORPHA:85448 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Dystonia, Ataxia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal s... |
OMIM:251300 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal... |
OMIM:278730 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Short stature, Anemia |
ORPHA:438213 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma |
OMIM:615219 |
Halperin-Birk Syndrome |
|
Inability to walk, Long eyelashes, Optic atrophy, Developmental cataract |
OMIM:618651 |
Hereditary Hemorrhagic Telangiectasia |
|
Microcytic anemia |
ORPHA:774 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, Small nail |
OMIM:201180 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Ataxia, Highly arched eyebrow, Optic disc coloboma, Retinal... |
OMIM:213300 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Cockayne Syndrome B |
|
Dry hair, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased... |
OMIM:133540 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Cockayne Syndrome A |
|
Dry hair, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoked po... |
OMIM:216400 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Ataxia, Hypermelanotic macule, Keratitis, Optic ... |
ORPHA:910 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Dystonia |
OMIM:619167 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm... |
OMIM:175780 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Sparse scalp hair, Ectopia len... |
ORPHA:394 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... |
OMIM:617827 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Developmental cat... |
OMIM:242840 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Dystonia, Intention ... |
ORPHA:309263 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormal blood zinc concentration, Short stature, Disproportionate short-limb s... |
ORPHA:468699 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph... |
ORPHA:2526 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigment... |
ORPHA:163746 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Ataxia, Abnormality of somatosensory ev... |
ORPHA:1187 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Punctate cataract, Optic atrophy, Coarse hair, Forehead hyperpigmentation, Posterio... |
OMIM:607812 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes |
OMIM:615877 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Difficulty w... |
ORPHA:309271 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Optic neuropathy, Optic atrophy, Conjunctivitis |
ORPHA:79241 |
Carney Complex, Type 1 |
|
Schwannoma, Pheochromocytoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin le... |
OMIM:160980 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Hypertrichosis |
OMIM:266270 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin... |
OMIM:256040 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked ... |
ORPHA:909 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... |
ORPHA:3322 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Optic atrophy, Distal sensory impairment, Decreased sensory nerve conduction ve... |
ORPHA:320375 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Ataxia, Tremor, Unsteady gait, Optic atrophy |
OMIM:614947 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Ataxia, Reticulated skin pigmentat... |
OMIM:305000 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... |
ORPHA:42775 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Developmental cataract, Astigmatism, ... |
ORPHA:86309 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Onychogryposis |
OMIM:603671 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Ataxia, Tremor, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Astigmatism |
OMIM:619471 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Dystonia, Intention tremor |
OMIM:619708 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn... |
OMIM:186580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Numerous pigmented freckles, Optic atrophy, Ataxia |
ORPHA:220295 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia |
ORPHA:562 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... |
ORPHA:289390 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Ataxia |
OMIM:604121 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology, Small nail |
ORPHA:250999 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia |
OMIM:619525 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Sparse hair |
OMIM:619869 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Optic atrophy |
OMIM:609037 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Periphera... |
ORPHA:171629 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Pig... |
ORPHA:255210 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... |
OMIM:219800 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology |
OMIM:617516 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi... |
ORPHA:534 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Thrombocytopenia, Growth delay, Leukop... |
ORPHA:84 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Cataract, Optic atrophy |
OMIM:617913 |
7Q11.23 Microduplication Syndrome |
|
Sparse anterior scalp hair, Unsteady gait, Dysmetria, Abnormal optic disc morphology, Astigmatism... |
ORPHA:96121 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired ... |
ORPHA:398079 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnormal location... |
ORPHA:141099 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... |
ORPHA:508498 |
Hyperoxaluria, Primary, Type I |
|
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Tip-toe gait, Astigmatism, Hyperpigmentation of the skin |
OMIM:619268 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Impaired pain sensation, Frontal upsweep of hair, Generalized hypopigme... |
OMIM:176270 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy |
OMIM:604928 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Congenital posterior occipital alopecia |
OMIM:115250 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired ... |
ORPHA:398069 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo... |
ORPHA:98754 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphol... |
ORPHA:818 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy... |
ORPHA:564 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo... |
ORPHA:177901 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
African Trypanosomiasis |
|
Papilledema, Alopecia, Somatic sensory dysfunction, Akinesia, Keratitis, Tremor, Impaired proprio... |
ORPHA:3385 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Idiopathic Hypereosinophilic Syndrome |
|
Pallor |
ORPHA:3260 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple |
ORPHA:397715 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Wrinkly Skin Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, High nonceruloplasm... |
ORPHA:2834 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Impaired temperature sensation |
ORPHA:739 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Chorea |
ORPHA:565 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |