| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Ataxia, Tremor, Cerebellar vermis atrophy, Limb ataxia, Gait... |
OMIM:617018 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Ataxia, Anemia |
ORPHA:2802 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Anisocy... |
OMIM:224120 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... |
OMIM:616860 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Abnormal lactate dehydrogenase level, Macrothro... |
ORPHA:67044 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Cerebellar atrophy, Hepatic fibrosis, Frequent falls, Splenomegaly, Distal sensory ... |
OMIM:616719 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
| Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Hypoplastic anemia, Neutropenia, Cerebellar atrophy, Dysmetria, Acute myelomonocyt... |
OMIM:159550 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Incr... |
ORPHA:86841 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Increased circulating lactate deh... |
ORPHA:3203 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetrapare... |
OMIM:615924 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... |
OMIM:610245 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... |
OMIM:611302 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... |
ORPHA:276193 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... |
ORPHA:79262 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:98763 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebellar atrophy, Stereotypy |
OMIM:617862 |
| Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Rigidity, Tremor, Loss of ability to walk, Hemolytic anemia |
OMIM:615010 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... |
OMIM:213200 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Reduced glutathione synthetase level, Intention tremor, Spastic tetraparesis, Ataxia... |
OMIM:266130 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ... |
OMIM:301310 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... |
ORPHA:98870 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
| Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenome... |
ORPHA:2585 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Myoclonus, Anemia, Hypertonia, Unsteady gait |
OMIM:610090 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Reticulocytosis |
OMIM:612126 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Paresthesia, Hepatic fibrosis, Frequent falls, Intention tremor, Progressive cerebellar ataxia, A... |
ORPHA:466794 |
| Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Decreased liver function, Cerebellar vermis... |
ORPHA:512260 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia... |
OMIM:254900 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... |
OMIM:610185 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Increased circulating lactate d... |
ORPHA:71275 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Myoclonus, Anemia, Splenomegaly, Intention tremor, Hyperspleni... |
OMIM:610539 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Aceruloplasminemia |
|
Involuntary movements, Dystonia, Hypochromic microcytic anemia, Rigidity, Elevated hepatic iron c... |
ORPHA:48818 |
| Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Reduced orotidine 5-prime phosphate decarboxylase leve... |
OMIM:258900 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Dystonia, Hepatocellular necrosis, Tetraplegia, Anisocytosis, Poikilocytosis, Chron... |
OMIM:618278 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Rigidity, Polycythemia, Steppage gait, Abnormality of extrapyramidal moto... |
OMIM:613280 |
| Spinal Muscular Atrophy, Jokela Type |
|
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor |
OMIM:615048 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... |
ORPHA:79263 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Persiste... |
ORPHA:231226 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... |
OMIM:618093 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Increased circulating lactate dehydrogenase concen... |
OMIM:619405 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... |
OMIM:300423 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Distal sensory impairment, Ataxia, Hypercholestero... |
OMIM:208920 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Poor motor coordination, Insulin resistance, Myoclonus, Tremor, Ataxia, Cirrhosis, ... |
ORPHA:363400 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Ataxia, Eyelid myoclonus, Cerebellar hypoplasia, Pancytopenia... |
OMIM:613839 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Torticollis, Spasti... |
ORPHA:397946 |
| Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypoplasia, Abnormal cerebellar verm... |
ORPHA:33445 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Dysmetria, Decreased liver function, Ataxia, Oculomotor apraxia, Tremor, Unst... |
OMIM:614867 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Gait disturbance, Anemia, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Type I diabet... |
ORPHA:1192 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... |
OMIM:615157 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophag... |
OMIM:603552 |
| Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Dystonia, Anemia, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Th... |
OMIM:619302 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... |
ORPHA:216873 |
| Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
ORPHA:33574 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lys... |
OMIM:278000 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... |
ORPHA:1170 |
| Classic Galactosemia |
|
Clumsiness, Postural tremor, Hepatomegaly, Lethargy, Hypoglycemia, Gait imbalance, Gait disturban... |
ORPHA:79239 |
| Aceruloplasminemia |
|
Torticollis, Chorea, Anemia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Ata... |
OMIM:604290 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... |
ORPHA:137898 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cerebellar hypopla... |
OMIM:617810 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholecystitis, Cholelithiasis, Pigment gallstones, Splenomegaly, Ataxia, Impaired neutrophil bact... |
OMIM:613470 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... |
ORPHA:71517 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
| Hereditary Methemoglobinemia |
|
Athetosis, Cerebellar atrophy, Methemoglobinemia, Spastic tetraplegia, Hypertonia, Spasticity, Li... |
ORPHA:621 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Galactosemia |
|
Postural tremor, Hepatomegaly, Lethargy, Gait disturbance, Gait imbalance, Dystonia, Abnormality ... |
ORPHA:352 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... |
OMIM:302800 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hepatomegaly, Leukopenia, Choreoathetosis, Anemia, Pancreatitis, Paraparesis, ... |
ORPHA:27 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Leukocytosis, Clonus, Hepatomegaly, Dystonia, Choreoathetosis, Frequent falls, Chorea... |
OMIM:615673 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Macrocytic anemia, Tremor |
OMIM:615578 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... |
OMIM:609307 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy, Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Chorea, Anemia, Pancreatitis, Thr... |
ORPHA:289916 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in the l... |
OMIM:600363 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Dilated fourth ventricle, Myoclonus, Bradykinesia, Fascicul... |
OMIM:183090 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Loss of ... |
ORPHA:276198 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... |
ORPHA:98773 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... |
OMIM:617435 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... |
ORPHA:93952 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:616531 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Jaundice, Reti... |
OMIM:224100 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... |
ORPHA:228360 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia |
OMIM:261630 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... |
ORPHA:370022 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Abnormal glucose homeostasis, Distal sensory impairment, Tremor, Inability t... |
ORPHA:90117 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Thrombocytopenia, Cryptorchidism, Increased mean platelet volume |
OMIM:616737 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Cerebellar atrophy, Myoclonus, Anemia |
OMIM:614946 |
| Coach Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Anemia, Portal fibrosis |
OMIM:619113 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia |
OMIM:603278 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
| Rosaï-Dorfman Disease |
|
Paraplegia, Anemia, Paresthesia |
ORPHA:158014 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia, Opisthotonus, Hypertonia |
OMIM:250800 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
| Ataxia-Telangiectasia |
|
Gait disturbance, Type II diabetes mellitus, Tremor, Ataxia, Lymphopenia, Diabetes mellitus, Spas... |
ORPHA:100 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Hypercholesterolemia, ... |
ORPHA:64753 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... |
OMIM:616505 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spa... |
ORPHA:206443 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Cerebellar hypoplasia, Gai... |
ORPHA:529665 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... |
ORPHA:3095 |
| 4H Leukodystrophy |
|
Dystonia, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:289494 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cirrhosis, Hepatic steatos... |
OMIM:606069 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... |
OMIM:608768 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity |
ORPHA:51208 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy |
OMIM:617718 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive h... |
ORPHA:276608 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... |
ORPHA:101077 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... |
ORPHA:158057 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism |
OMIM:261640 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Tremor, Ataxia, Reticulocytosis, Hemolytic anemia |
ORPHA:713 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Biliary tract abnormality, Abnormality of the liver, Tremor |
ORPHA:79234 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Writer's cramp, Tremor |
OMIM:159900 |
| Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Ambiguous ge... |
OMIM:607330 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Triosephosphate Isomerase Deficiency |
|
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Tremor, Chronic h... |
OMIM:615512 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem g... |
OMIM:300623 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Anemia, Ataxia, Hepatic failure, Pancytopenia |
OMIM:607426 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Gait disturbance, Choreoathetosis, Frequent falls, Steppage gait, Positive Romberg ... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity |
OMIM:609260 |
| Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnor... |
ORPHA:101070 |
| Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:604213 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Low alkaline phosphatase, Lethargy |
OMIM:201100 |
| Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Diabetes m... |
ORPHA:96 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking |
ORPHA:330050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Anemia, Pancreatitis, Splenomegaly, Thrombo... |
ORPHA:79312 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity |
OMIM:612716 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia |
OMIM:273680 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Elevated ci... |
ORPHA:158061 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce... |
OMIM:618060 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, ... |
OMIM:617988 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis |
ORPHA:391417 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
| Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... |
ORPHA:101 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal sensory impairment, Tremor |
OMIM:616668 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... |
OMIM:606693 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Cerebellar atrophy, Limb hypertonia, Dysmetria, Dilated fourth ventricle, Spastic tetr... |
ORPHA:572798 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Tremor, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:619556 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... |
OMIM:137440 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Rigidity, Anemia, Splenomegaly, Oculomotor apraxia, Spasticity, Thrombocytopenia |
OMIM:230900 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedullary hematopoiesis, Increas... |
ORPHA:822 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Wilson Disease |
|
Clumsiness, Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic st... |
ORPHA:905 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| D-Glyceric Aciduria |
|
Chorea, Myoclonus, Increased circulating free fatty acid level, Spasticity, Abnormal enzyme/coenz... |
ORPHA:941 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Gait disturbance, Anemia, Spastic tetraparesis, Ataxia, Lethargy |
OMIM:615838 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:619422 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Decreased circulating cortisol level |
OMIM:618838 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
| Spinocerebellar Ataxia Type 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Cerebell... |
ORPHA:458803 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... |
OMIM:612714 |
| Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
| Lesch-Nyhan Syndrome |
|
Anemia, Spasticity, Hemiplegia/hemiparesis |
ORPHA:510 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Dystonia, Hypochromic microcytic anemia, Lower limb spasticity,... |
ORPHA:66634 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Tremor, Ataxia, Diabetes mellitus, Thrombocytopenia |
OMIM:222300 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... |
OMIM:606159 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Impaired proprioception, Dystonia, Pontocerebellar atrophy, Cerebellar atrophy, Impaired distal t... |
OMIM:606002 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia |
OMIM:619092 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Anemia, Hepatocel... |
ORPHA:79240 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase |
OMIM:604250 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Ataxia, Hypertriglyceridemia, Abno... |
ORPHA:158048 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Pontocerebellar atrophy, Splenomegaly, Tremor, Ataxia, Elevated hepatic transaminase |
OMIM:608799 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Lethargy |
ORPHA:28 |
| Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Rigidity, Tremor, Ataxia, Somatic sensory dysfunction |
OMIM:603472 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking |
OMIM:159950 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume |
ORPHA:487796 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... |
ORPHA:247234 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Anemia, Hepa... |
ORPHA:264580 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Cerebellar atrophy, Normocytic hypoplastic anemia, Agenes... |
OMIM:610377 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Aplasia/Hypoplasia of the cerebellum, Abnormal pyramidal sign, Abnormal ... |
ORPHA:99027 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Gait disturbance, Dystonia, Shuffling gait, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnor... |
ORPHA:352649 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Jaundice, Somatic sensory dysfunctio... |
ORPHA:167 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Leukopenia, Anemia, Splenomegaly, Tetraplegia, Ataxia, Hepatosplenome... |
OMIM:603553 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... |
OMIM:618056 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Anemia, Decreased circulating cortisol level |
OMIM:618835 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Hypoglycemia, Anemia, Decreased circulating cortisol level |
OMIM:618839 |
| Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... |
ORPHA:255 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... |
OMIM:300055 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Tremo... |
ORPHA:79095 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Tetraplegia, Ataxia, Hypertonia, Hypertriglycerid... |
OMIM:267700 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Gait disturbance, Dystonia, Rigidity, Polycythemia, Micronodular cirrhosis, Bradyki... |
ORPHA:309854 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea, Hepatic failure |
ORPHA:75233 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... |
ORPHA:99750 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... |
ORPHA:231214 |
| Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... |
OMIM:617751 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Oculomotor apraxia, Cerebellar v... |
OMIM:615960 |
| Insulinoma |
|
Paresthesia, Hyperinsulinemic hypoglycemia, Abnormality of pain sensation, Fasting hyperinsulinem... |
ORPHA:97279 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Propionic Acidemia |
|
Hepatomegaly, Dystonia, Propionyl-CoA carboxylase deficiency, Neutropenia, Hypoglycemia, Limb hyp... |
OMIM:606054 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Hypertonia, Neutropenia |
OMIM:617248 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Sialidosis Type 2 |
|
Tremor, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
| Pancreatic And Cerebellar Agenesis |
|
Cerebellar agenesis, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Anemia, Diabetes mellitu... |
OMIM:609069 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... |
OMIM:250790 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
| Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Anemia, Splenomegaly, Increased circulating lactate d... |
ORPHA:824 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophi... |
OMIM:214500 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... |
ORPHA:544254 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Gait disturbance, Anemia, Glycosuria, Decreased liver function, Ataxia, Spastic tet... |
ORPHA:436271 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Congenital Erythropoietic Porphyria |
|
Paresthesia, Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Retic... |
ORPHA:79277 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy |
OMIM:233910 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Neutropenia, Anemia, Decreased methylmalonyl-CoA mutase activity, Tremor, Pancytope... |
OMIM:251100 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Persistence of hemoglobin F, Acute myeloid leuke... |
OMIM:260400 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Gait disturbance, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neopla... |
ORPHA:1454 |
| Abetalipoproteinemia |
|
Impaired proprioception, Steatorrhea, Hepatic fibrosis, Dysmetria, Cirrhosis, Hepatic steatosis, ... |
ORPHA:14 |
| Typhoid |
|
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Hypertonia, Lethargy |
ORPHA:99745 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Athetosis, Hepatomegaly, Dystonia, Cerebellar atrophy, Chorea, Speech apraxia, Tremor, Ataxia, He... |
OMIM:615356 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... |
ORPHA:64743 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia |
OMIM:613155 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Tremor, Reticulocytosis, Prolonged neonatal ja... |
OMIM:274150 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Tremor... |
OMIM:613179 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Wilson Disease |
|
Hepatomegaly, Dystonia, Poor motor coordination, Hepatocellular carcinoma, Glycosuria, Tremor, Ci... |
OMIM:277900 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia |
OMIM:618049 |
| Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia, Hypopl... |
OMIM:619151 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Ataxia, Hypertonia, Cerebellar hypoplasia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Stereotypy, Tremor, Hyperkinetic m... |
ORPHA:457240 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... |
ORPHA:300298 |
| Pyruvate Dehydrogenase Deficiency |
|
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... |
ORPHA:765 |
| Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
| Stiff-Person Syndrome |
|
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Anemia, Exaggerated startle response, D... |
OMIM:184850 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Abnormalit... |
OMIM:614298 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... |
ORPHA:398124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
| Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Steatorrhea, Cholest... |
ORPHA:440713 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Ataxia, Abnormality of coord... |
ORPHA:442835 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Gait disturbance, Insulin resistance, Dysmetria, Anemia, Ataxia, Cerebellar vermis atrophy, Dysdi... |
OMIM:616541 |
| Tay-Sachs Disease |
|
Clumsiness, Progressive spasticity, Gait disturbance, Cerebellar atrophy, Dystonia, Frequent fall... |
ORPHA:845 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Eyelid apraxia, Acanthocytosis, Choreoathetos... |
OMIM:234200 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-based gait, P... |
ORPHA:3077 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Anemia, Cirrhosis, Ataxia, Lymphopenia, Cerebellar hypoplasia, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
| Saccharopinuria |
|
Distal sensory impairment, Spastic diplegia, Gait ataxia, Tremor |
ORPHA:3124 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocyt... |
ORPHA:20 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperinsulinemic hypog... |
ORPHA:71212 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Hyperkinetic movements, Spasticity, Abnor... |
OMIM:300957 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Vocal cord paresis, Trem... |
OMIM:619574 |
| Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Bone-marrow foam cells, Progressive gait ataxia, Splenomegaly, Hepatosplen... |
ORPHA:646 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Paraplegia, T lymphocytopenia, Anemia, Abnormal lymphocyte count, Par... |
ORPHA:79124 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor, Abnormal cerebellum morphology |
OMIM:190310 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:109270 |
| Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Ataxia, Hypertonia, Tremor |
OMIM:617106 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anemia, Increased hepatocellular lipid droplets, Glycosuria, Decreased liver functi... |
OMIM:220110 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Babinski sign, Abnormality of pain sensation, Spastic gait, Spastic dysarthria, Falls, Impaired v... |
ORPHA:447753 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abn... |
OMIM:312080 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Abnormal superior cerebellar peduncle morphology, Anemia, Neoplasm of the pancreas, ... |
ORPHA:370348 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperchol... |
ORPHA:247585 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tremor, Ataxia, Cerebellar edema, Tetraparesis |
OMIM:617186 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Fasting hypoglycemia, Rigidity, Poor motor coordination, Chorea, Tremor, Ata... |
ORPHA:25 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:240071 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cerebel... |
OMIM:613153 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Elevated hepatic transamin... |
OMIM:617591 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Autoimmune thrombocytopenia, Ty... |
OMIM:304790 |
