| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
| Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... |
OMIM:615517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... |
ORPHA:254704 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
| Gracile Syndrome |
|
Cholestasis, Decreased transferrin saturation, Cirrhosis, Hepatic steatosis, Increased circulatin... |
ORPHA:53693 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Increased serum iron, Increased serum ... |
OMIM:603358 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochr... |
OMIM:615234 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, I... |
OMIM:231100 |
| Idiopathic Copper-Associated Cirrhosis |
|
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... |
ORPHA:209919 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transam... |
OMIM:613313 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... |
OMIM:237800 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Congenital hepatic fibrosis, Elevated hepatic transaminase, Incr... |
ORPHA:79230 |
| Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... |
ORPHA:139507 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... |
ORPHA:300298 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Incr... |
OMIM:616278 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Atransferrinemia |
|
Hypochromic anemia, Atransferrinemia, Abnormality of the liver |
OMIM:209300 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Abnorm... |
ORPHA:848 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... |
ORPHA:231222 |
| Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... |
ORPHA:232 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
| Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Microcytic anemia, Cirrhosis, Decreased liver funct... |
ORPHA:79278 |
| Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Elevated circulating phytanic acid concentration, Very long chain fatty acid a... |
OMIM:614877 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Distal sensory impairment, Cerebral atrophy, Ataxia, Steppage gait, Peripheral axonal neuropathy,... |
OMIM:607250 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
ORPHA:171851 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, I... |
OMIM:604250 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly, Microcytic anemia |
OMIM:618852 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Aceruloplasminemia |
|
Limb ataxia, Ataxia, Macular degeneration, Decreased circulating copper concentration, Hepatic fi... |
ORPHA:48818 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Dif... |
OMIM:614946 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin conce... |
ORPHA:101330 |
| Spinocerebellar Ataxia Type 43 |
|
Distal sensory impairment, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Peripheral ... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Basal lamina onion bulb formation, Distal sensory impairment, Difficulty walking, Broad-based gai... |
OMIM:614895 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt... |
OMIM:618805 |
| Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis, Increased ci... |
OMIM:606069 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Sple... |
OMIM:602390 |
| Null Syndrome |
|
CNS hypomyelination, Inability to walk, Ataxia, Difficulty walking, Demyelinating peripheral neur... |
ORPHA:280234 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Eleva... |
OMIM:300752 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Sterile abscess, Microcytic anemia, Pancytopenia, Elevated circulating C-reac... |
OMIM:604416 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Inability to walk, Cerebral atrophy, Ataxia, Chorea, Peripheral demyelination, Axonal loss, Neuro... |
OMIM:617672 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Distal sensory impairment, Gait disturbance, Decreased number of peripheral myelinated nerve fibe... |
OMIM:604484 |
| Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, El... |
ORPHA:398063 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Paresthesia, Somatic sensory dysfunction, Unsteady gait, Falls, Difficulty walking, Spontaneous p... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired pain sensation, Distal sensory impairment, Steppage gait, Axonal regeneration, Periphera... |
OMIM:615185 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Distal sensory impairment, Difficulty walking, Steppage gait, Segmental peripheral demyelination,... |
OMIM:606483 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Distal sensory impairment, Paresthesia, Hypoesthesia, Ataxia, Hypertrophic nerve changes, Positiv... |
OMIM:601098 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Anemia, Decreased serum iron, Aceruloplasminemia |
OMIM:604290 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane... |
OMIM:235700 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Intermittent jaundice... |
ORPHA:3202 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Progressive gait ataxia, Symmetrical progressive peripheral dem... |
ORPHA:208981 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Cerebral atrophy, Abnormal upper motor neuron morphology, Lateral ventricle dil... |
OMIM:221770 |
| Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Distal sensory impairment, Progressive cerebellar ataxia, Abnormal cereb... |
ORPHA:101111 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired pain sensation, Hypertrophic nerve changes, Impaired proprioception, Impaired vibratory ... |
DECIPHER:29 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired pain sensation, Distal sensory impairment, Unsteady gait, Impaired tandem gait, Clusters... |
ORPHA:101097 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Distal sensory impairment, Impaired distal vibration sensation, Hypertrophic nerve changes, Myeli... |
OMIM:145900 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, El... |
OMIM:617395 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal sensory impairment, Segmental peripheral demyelination, Decreased number of peripheral mye... |
OMIM:606482 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal sensory impairment, Gait disturbance, Optic atrophy, Rod-cone dystrophy, Onion bulb format... |
OMIM:311070 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Basal lamina onion bulb formation, Distal sensory impairment, Inability to walk by childhood/adol... |
OMIM:214400 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Ataxia, Pigmentary retinopathy, Impaired prop... |
OMIM:609033 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Distal sensory impairment, Difficulty walking, Impaired distal vibration... |
OMIM:618279 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Elevated hepatic transaminase, Microcytic anemia, Hypertriglyceridemia, Hepat... |
OMIM:619013 |
| Irida Syndrome |
|
Decreased circulating copper concentration, Intrahepatic cholestasis |
ORPHA:209981 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal sensory impairment, Hypertrophic nerve changes, Steppage gait, Decreased number of periphe... |
OMIM:118200 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Distal sensory impairment, Somatic sensory dysfunction, Gait disturbance, Difficulty walking, Ste... |
ORPHA:206594 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Hepatomegaly, Elevated hepatic transaminase, Hypermanganesemia, Cirrhosis, Unconjug... |
OMIM:613280 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal sensory impairment, Steppage gait, Peripheral axonal atrophy, Peripheral axonal neuropathy... |
OMIM:118210 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... |
OMIM:261000 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Impaired pain sensation, Distal sensory impairment, Difficulty walking, Loss of ambulation, Perip... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Distal sensory impairment, Onion bulb formation |
OMIM:616039 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal sensory impairment, Clusters of axonal regeneration, Decreased number of peripheral myelin... |
OMIM:607734 |
| Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Optic neuritis, Peripheral demyelination, Neuronal loss in central n... |
ORPHA:71211 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... |
OMIM:224120 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal sensory impairment, Hypertrophic nerve changes, Decreased number of peripheral myelinated ... |
OMIM:180800 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Unsteady gait, Dysesthesia, Gait ataxia, Onion bulb formation |
ORPHA:98916 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Distal sensory impairment, Hypoesthesia, Unsteady gait, Decreased number of peripheral myelinated... |
OMIM:609311 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Elevated hepatic transaminase, Hyperbiliru... |
ORPHA:98870 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia |
OMIM:312500 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal sensory impairment, Somatic sensory dysfunction, Steppage gait, Decreased number of large ... |
OMIM:615376 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal sensory impairment, Hypertrophic nerve changes, Steppage gait, Decreased number of periphe... |
OMIM:118220 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Unsteady gait, Abnormal ... |
ORPHA:95434 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Distal sensory impairment, Axonal regeneration, Decreased number of peripheral mye... |
OMIM:607731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Distal sensory impairment, Axonal degeneration/regeneration, Decreased number of p... |
OMIM:607677 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal sensory impairment, Limb ataxia, Ataxia, Impaired distal vibration sensation, Loss of ambu... |
OMIM:208920 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Cerebellar... |
OMIM:619054 |
| Niemann-Pick Disease, Type A |
|
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Elevated c... |
OMIM:257200 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Distal sensory impairment, Difficulty walking, Impaired distal vibration sensation, Steppage gait... |
OMIM:615035 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Ataxia, Pigmentary retinopathy, Neurodegeneration, Retinopathy, Optic atrophy, ... |
OMIM:610951 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Hypermethioninemia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia |
OMIM:608898 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal sensory impairment, Steppage gait, Decreased number of large peripheral myelinated nerve f... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Basal lamina onion bulb formation, Distal sensory impairment, Abnormal cranial nerve morphology, ... |
OMIM:601596 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Truncal ataxia |
ORPHA:98764 |
| Tangier Disease |
|
Impaired pain sensation, Decreased circulating apolipoprotein A-I concentration, Impaired tempera... |
OMIM:205400 |
| Abetalipoproteinemia |
|
Ataxia, CNS demyelination, Abetalipoproteinemia, Retinal degeneration, Peripheral demyelination, ... |
OMIM:200100 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal vibration sensation, Steppage gait, Peripheral axonal neuropathy, Onion bulb form... |
OMIM:610100 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Unsteady gait, Ataxia, Gait ataxia, Gliosis, Cerebellar vermis atrophy, Cerebellar h... |
OMIM:213200 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythroid hyper... |
OMIM:600462 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired pain sensation, Impaired distal vibration sensation, Decreased number of peripheral myel... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Distal sensory impairment, Axonal degeneration/regeneration |
OMIM:607736 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Reduced haptoglobin level, Anemia of inadequate production, Macrocytic anemia, Congenit... |
OMIM:105600 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal sensory impairment, Difficulty walking, Steppage gait, Decreased number of peripheral myel... |
OMIM:604563 |
| Multiple Sulfatase Deficiency |
|
Cerebral atrophy, Ataxia, Hydrocephalus, CNS demyelination, Hepatomegaly, Retinal degeneration, V... |
OMIM:272200 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Distal sensory impairment, Difficulty walking, Optic disc pallor, Peripheral axonal neuropathy, D... |
OMIM:617087 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Distal sensory impairment, Steppage gait, Peripheral axonal atrophy, Decreased number of peripher... |
OMIM:609260 |
| Krabbe Disease |
|
Hydrocephalus, Diffuse cerebral atrophy, CNS demyelination, Peripheral demyelination, Neurodegene... |
OMIM:245200 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Ataxia, Chorea, Peripheral demyelination, Peripheral axonal degeneration, Perip... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Difficulty walking, Axonal loss, Ataxia |
OMIM:616684 |
| Dandy-Walker Syndrome |
|
Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourt... |
OMIM:220200 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Increased serum... |
OMIM:235200 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Freezing ... |
ORPHA:240094 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Elevated transferrin saturation, Hepatomegaly, Chronic hepatic failure,... |
ORPHA:465508 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral demyelination, Peripheral axonal neuropathy |
ORPHA:231445 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Microcytic anemia, Ele... |
OMIM:619750 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... |
OMIM:607791 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Distal sensory impairment, Gait disturbance |
ORPHA:99944 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Senso... |
OMIM:618184 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Elevated circulating aspartate aminotransferase concentration, Sensory axonal neuropathy, Ataxia,... |
OMIM:271245 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Ataxia, Retinal atrophy, Cerebellar ... |
ORPHA:370022 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal sensory impairment, Steppage gait, Peripheral axonal atrophy, Decreased number of peripher... |
OMIM:605588 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Somatic sensory dysfunction, Ataxia, Broad-based gait, Gait disturbance... |
ORPHA:206448 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Pontine T2 hypointensity, Loss of Purkinje cells in the cerebellar ve... |
OMIM:270550 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, Loss of ambulation, CNS demyelination, Gait ataxia |
OMIM:249900 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Abnormal cerebellum morphology, Gliosis, Corpus callo... |
OMIM:169500 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal sensory impairment, Gait disturbance, Difficulty walking, Tip-toe gait, Decreased number o... |
OMIM:302800 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Decreased serum iron, Chronic hepatitis |
OMIM:614602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired pain sensation, Distal sensory impairment, Gait disturbance, Impaired distal vibration s... |
OMIM:607684 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia |
ORPHA:51208 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Normochromic microcytic anemia, Micr... |
OMIM:610198 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Unsteady gait, Tip-toe gait, Chorea, Spastic ataxia, Peripheral demyelination, ... |
ORPHA:397946 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Anemia, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, He... |
OMIM:615438 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... |
OMIM:608673 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Extramedullary hemat... |
ORPHA:231214 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Hypoesthesia, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Delayed myelination, Hepatomegaly, Cirrhosis, Lateral ventricle dilatat... |
OMIM:300868 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisocytosis, Chronic hepatitis, Extramed... |
ORPHA:231226 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... |
OMIM:603471 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Copper ... |
ORPHA:309854 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal sensory impairment, Steppage gait, Elevated circulating creatine kinase concentration, Axo... |
OMIM:614455 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Impaired distal vibration sensation, Macular degeneration, Impaired vibration sensation i... |
OMIM:604360 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Inability to walk, Retrocerebellar cyst, Ataxia, Dilated f... |
OMIM:614831 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Distal sensory impairment, Gait disturbance, Peripheral hypomyelination, Axonal loss, Onion bulb ... |
OMIM:611228 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Persistence of hemoglobin F... |
OMIM:612561 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal sensory impairment, Difficulty walking, Axonal regeneration, Decreased number of large per... |
OMIM:605285 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Gait disturbance, Unsteady gait, Impaired distal vibration sensation, ... |
OMIM:601455 |
| Boucher-Neuhauser Syndrome |
|
Chorioretinal dystrophy, Ataxia, Abnormal upper motor neuron morphology, Spinocerebellar atrophy,... |
OMIM:215470 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Motor axonal neuropathy, Distal sensory impairment, Inability to walk, Sensory axonal neuropathy,... |
ORPHA:98856 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait |
ORPHA:391411 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| East Syndrome |
|
Hyperaldosteronism, Inability to walk, Increased circulating renin level, Ataxia, Difficulty walk... |
ORPHA:199343 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, Unsteady gait, Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysdiadochokinesis, Spastic ataxia, Increased intramyocellular lipid droplets, Cerebellar... |
OMIM:614487 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Steppage gait, Peripheral axonal atrophy, Decreased number of periph... |
OMIM:600882 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Elevated hepatic transaminase, Cirrhosis, Increased s... |
OMIM:242150 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:163596 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubi... |
OMIM:185000 |
| Spinocerebellar Ataxia 25 |
|
Impaired pain sensation, Ataxia, Decreased number of peripheral myelinated nerve fibers, Abolishe... |
OMIM:608703 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Distal sensory impairment, Gait disturbance, Loss of ambulation, Brain atrophy, Myelin outfolding... |
OMIM:615284 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Microcytic anemia, Elevated circulating creatine kinase concentration, Highly eleva... |
OMIM:251900 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia |
OMIM:612379 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia |
OMIM:615771 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia |
ORPHA:90308 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Reduced haptoglobin level, Reticulocytosis, Hemolytic... |
ORPHA:71275 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal vibration sensation, Impaired distal tactile sensation, Decreased number of perip... |
OMIM:607080 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination, Elevated circulating creatinine concentration |
OMIM:616733 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... |
OMIM:616959 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation |
OMIM:605253 |
| Spinocerebellar Ataxia 1 |
|
Impaired pain sensation, Paresthesia, Olivopontocerebellar atrophy, Limb ataxia, Progressive cere... |
OMIM:164400 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... |
OMIM:612714 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Methylmalonic acidemia |
OMIM:612073 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Somatic sensory... |
ORPHA:101082 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... |
OMIM:619991 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Trichohepatoenteric Syndrome 1 |
|
Jaundice, Cholestasis, Hepatic fibrosis, Hypermethioninemia, Hepatomegaly, Cirrhosis, Thrombocyto... |
OMIM:222470 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Ventricular septal defect, Increased mean corpuscular volum... |
OMIM:617021 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hyperammonemia, Cerebral atrophy, Methylmalonic acidemia, Ataxia, Hydrocephalus, Elevat... |
ORPHA:79282 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Intrahep... |
OMIM:617093 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Anemia, Cholestasis, Hepatitis, Portal hypertension, Hypochromic micro... |
ORPHA:440713 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Normochromic mic... |
ORPHA:66634 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Distal sensory impairment, Myelin outfoldings, Irregular myelin loops |
OMIM:601382 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal sensory impairment, Peripheral hypomyelination, Facial diplegia |
OMIM:616287 |
| Glycogen Storage Disease Xii |
|
Jaundice, Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating alanine amin... |
OMIM:611881 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Agenesis of cerebellar vermis, Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebe... |
OMIM:220220 |
| Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Decreased circulating ferritin concentration, Iron deficiency anemia |
ORPHA:54028 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethion... |
OMIM:236270 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Pontocerebellar atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdia... |
ORPHA:171629 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Impaired pain sensation, Distal sensory impairment, Inability to walk, Unsteady gait, Impaired di... |
ORPHA:99948 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Motor axonal neuropathy, Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Elevated circu... |
ORPHA:52430 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar dysplasia, Retinal atrophy, Cerebellar cyst, Retinal thinning, Dilated fourth ventricl... |
OMIM:615960 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Inability to walk, Cerebral atrophy, Facial diplegia, Pau... |
OMIM:611890 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysmyelinating leukodystrophy, Ataxia, Difficulty walking, Atrophy/Degeneration affecting the bra... |
OMIM:612319 |
| Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Gait disturbance, Ataxia, Chorea, Peripheral demyelination, Cholecystiti... |
OMIM:250100 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase |
OMIM:613561 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of the striatum, Progressive cerebellar ataxia, Abnormal lower motor neuron morpholo... |
ORPHA:276244 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
OMIM:611067 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, T ... |
ORPHA:2959 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Diffuse cerebral atrophy, Dilated fourth ventricle, Gait ataxia, Cerebellar vermis atroph... |
ORPHA:1170 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia, Pancytop... |
OMIM:613839 |
| Spinocerebellar Ataxia 2 |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Unsteady gait, Spinocerebellar tract degenera... |
OMIM:183090 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dilated fourth ventricle, Dysdiadochokinesis, Chorea, Gait ataxia, Cerebellar atrophy, Ce... |
ORPHA:251347 |
| Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Distal sensory impairment, Sensory axonal neuropathy, Steppage gait, Lat... |
OMIM:256850 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Hyperbiliru... |
OMIM:259720 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
| Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Cerebral atrophy, Hypouricemia, Diffuse cerebral atrophy, Ventriculomegaly, Peripheral demyelinat... |
OMIM:252160 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612528 |
| Spherocytosis, Type 5 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Glutaric Acidemia I |
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Hydrocephalus, Delayed myelination, Hepatomegaly, Elevated circulating glutaric acid concentratio... |
OMIM:231670 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
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Hydrocephalus, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cerebellar cyst, Retinal ... |
ORPHA:370959 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Increased circulating renin level, Ataxia, Chronic axonal neuropathy, Hypokal... |
OMIM:612780 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired pain sensation, Demyelinating sensory neuropathy, Limb ataxia, Paresthesia, Somatic sens... |
ORPHA:101085 |
| Spherocytosis, Type 2 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... |
OMIM:616649 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Abno... |
ORPHA:275872 |
| Spherocytosis, Type 4 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Motor axonal neuropathy, Somatic sensory dysfunction, Inability to walk, Gait disturbance, Sensor... |
ORPHA:466768 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hyperhomocystinemia, Hypomethioninemia, Megaloblastic anemia |
OMIM:250940 |
| Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... |
OMIM:182900 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
| Syndromic Diarrhea |
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Hypoplasia of the thymus, Abnormality of the liver, Hepatic fibrosis, Hepatomegaly, Lymphopenia, ... |
ORPHA:84064 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Leukopenia, ... |
OMIM:300972 |
| Spinocerebellar Ataxia 21 |
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Limb ataxia, Progressive cerebellar ataxia, Ataxia, Gait ataxia, Akinesia |
OMIM:607454 |
| Refractory Anemia With Excess Blasts |
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Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... |
ORPHA:86839 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal lower motor neu... |
OMIM:602433 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Ataxia, Bile duct proliferation, Elongated superior cereb... |
OMIM:610688 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Paresthesia, Distal sensory impairment, Gait disturbance, Abnormal upper motor neuron morphology,... |
OMIM:263570 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Hypouricemia, Ventriculomegaly, Peripheral demyelination, Gliosis, Axonal loss |
OMIM:252150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Splenomegaly |
OMIM:619046 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Microcytic anemia, Portal hypertension, Cholecystitis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hepatosplenomegaly, Distal sensory impairment, Dysmyelinating leukodystrophy, Cerebral atrophy, A... |
OMIM:609136 |
| Machado-Joseph Disease |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Spinocerebellar tract degeneration, Dilated f... |
OMIM:109150 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Hyperalaninemia, Increased serum pyruvate, Anemia |
OMIM:619147 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis,... |
OMIM:105550 |
| Leukodystrophy, Hypomyelinating, 5 |
|
CNS hypomyelination, Loss of ambulation, Abnormal cerebellum morphology, Leukodystrophy, Onion bu... |
OMIM:610532 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Cholestasis, Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:541423 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Dilated fourth ventricle, Truncal ataxia |
OMIM:620208 |
| Peho Syndrome |
|
Neuronal loss in central nervous system, Optic atrophy, Cerebellar atrophy, Peripheral dysmyelina... |
OMIM:260565 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss o... |
OMIM:614298 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevat... |
OMIM:613954 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Unsteady gait, Cerebral atrophy, Ataxia, Difficulty walking, Waddling gait, Delayed peripheral my... |
ORPHA:464282 |
| Corticobasal Syndrome |
|
Akinesia, Gait disturbance |
ORPHA:454887 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Jaundice, Hyperammonemia, Abnormality of the liver, Neutropenia, Hepatomeg... |
ORPHA:1667 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Loss of ambulation, Abnormal upper motor neuron morphology, Cerebral cortical atrophy |
OMIM:606353 |
| H Syndrome |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Histiocytosis |
ORPHA:168569 |
| Primary Lateral Sclerosis |
|
Motor axonal neuropathy, Somatic sensory dysfunction, Atrophy of the spinal cord, Abnormal lower ... |
ORPHA:35689 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... |
ORPHA:79096 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal sensory impairment, Axonal regeneration, Decreased number of peripheral myelinated nerve f... |
OMIM:607831 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Hepatosplenomegaly, Inability to walk, Difficulty walking, Abnormal lower motor neuron morphology... |
ORPHA:2590 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Jaundice, Hemolytic anemia |
OMIM:268150 |
| Trigeminal Neuralgia |
|
Paresthesia, Somatic sensory dysfunction, CNS demyelination, Cranial nerve compression, Periphera... |
ORPHA:221091 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Inability to walk, Facial diplegia, Peripheral axonal neuropathy, Demyelinating peripheral neurop... |
OMIM:218000 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Anemia, Abnormal circulating selenium concentration, Decreased plasma carni... |
ORPHA:89842 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Hyperalaninemia, Pigmentary retinopathy, Hepatomegaly, Hepatic failure, Demyelinating per... |
ORPHA:255210 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular volume, Hyperhomocystine... |
OMIM:277410 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Cerebral atrophy, Ataxia, Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve ... |
OMIM:615490 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Decreased serum zinc, Splenomegaly |
OMIM:201100 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia |
OMIM:275350 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Anemia, Hepatomegaly, Microcytic anemia, Neutrophilia |
|
