Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Trigeminal Neuralgia |
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Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia |
ORPHA:221091 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Parkinson Disease 17 |
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Tremor, Resting tremor, Akinesia |
OMIM:614203 |
Complex Regional Pain Syndrome |
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Limb pain, Allodynia |
ORPHA:83452 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Back pain, Allodynia, Abdominal pain |
ORPHA:51890 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Spastic ataxia, Dystonia, Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Spinocerebellar Ataxia Type 21 |
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Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Atypical Juvenile Parkinsonism |
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Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Majeed Syndrome |
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Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Corticobasal Syndrome |
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Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
Spinocerebellar Ataxia 21 |
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Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Methylcobalamin Deficiency Type Cble |
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Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Abdominal cramps, Allodynia, Abdominal pain |
OMIM:603041 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Lymphop... |
OMIM:127550 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Benign Schwannoma |
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Pain, Allodynia |
ORPHA:252164 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... |
ORPHA:247234 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Tremor, Akinesia, Dystonia |
OMIM:300894 |
Classic Progressive Supranuclear Palsy Syndrome |
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Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia |
ORPHA:240071 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Aceruloplasminemia |
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Refractory anemia, Torticollis, Ataxia, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hypochromic m... |
ORPHA:48818 |
Perry Syndrome |
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Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Kufor-Rakeb Syndrome |
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Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia |
OMIM:606693 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Manganese Poisoning |
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Postural tremor, Gait disturbance, Akinesia, Dystonia |
ORPHA:306682 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Congenital Myopathy 9A |
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Akinesia |
OMIM:618822 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Postencephalitic Parkinsonism |
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Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia |
ORPHA:97349 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Arthrogryposis Multiplex Congenita 6 |
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Akinesia |
OMIM:619334 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Anemia, Hypochromic microcytic anemia, Akinesia |
OMIM:619147 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Lethal Congenital Contracture Syndrome 2 |
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Akinesia |
OMIM:607598 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Gaucher Disease, Perinatal Lethal |
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Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Anemia |
OMIM:608013 |
Arthrogryposis Multiplex Congenita 5 |
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Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Poikilocytosis, Dystonia |
OMIM:618947 |
Stiff-Person Syndrome |
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Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Supranuclear Palsy, Progressive, 2 |
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Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Ataxia |
OMIM:618598 |
Supranuclear Palsy, Progressive, 1 |
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Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Inability to walk, Exaggerated startle response |
OMIM:620114 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia |
OMIM:234200 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Fetal Akinesia Deformation Sequence |
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Akinesia |
ORPHA:994 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist... |
ORPHA:845 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Anemia |
ORPHA:86309 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
African Trypanosomiasis |
|
Akinesia, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Gait disturbance, Difficulty... |
ORPHA:3385 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Anemia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |