| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Intention tremor, Spastic tetraparesis, Ataxia, Pigmentary retinopathy, Hemolytic an... |
OMIM:266130 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Optic Atrophy 2 |
|
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Phosphoserine Phosphatase Deficiency |
|
Seizure, Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
| Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia,... |
OMIM:159550 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Abnormal pyramidal sign, Neutropenia, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616271 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis |
OMIM:610181 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... |
OMIM:617831 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Clumsiness, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Short stature, Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk, Attentio... |
OMIM:619639 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... |
OMIM:618425 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Neutropenia, Choreoathetosis, Chorea, Anemia, Thrombocytopenia, Hemiplegia/hemipar... |
ORPHA:289916 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Seizure, Ataxia, Postnatal growth retardation, Spasticity |
OMIM:300067 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia |
OMIM:619302 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Short stature, Focal impaired awareness seizure, Speech apraxia, ... |
OMIM:245570 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
| Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Tremor, Ataxia, ... |
OMIM:617836 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... |
OMIM:104290 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ... |
OMIM:301310 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis |
OMIM:616871 |
| Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Bilateral tonic-clonic seizure, Stereotypy, Seizure, Generalized myoclonic seizure |
OMIM:616341 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Hypertonia, Spastic tetraplegia |
OMIM:619301 |
| Continuous Spikes And Waves During Sleep |
|
Clumsiness, Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic s... |
ORPHA:725 |
| Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... |
OMIM:619191 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... |
ORPHA:53583 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia |
OMIM:613721 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Hypertonia, Neutropenia |
OMIM:617248 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Rigidity, Bilateral tonic-clonic seizure, Falls, Bradykinesia, I... |
OMIM:300423 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Hemolytic anemia, Rigidity |
OMIM:615010 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Microcytic anemia, Neutropenia, Spasticity |
OMIM:251900 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Falls, Chin myoclonus, Generalized myoclonic seizure, Generalized... |
ORPHA:139426 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
| Lichtenstein-Knorr Syndrome |
|
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorrhage |
ORPHA:88 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
| Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Hypertonia, Bilateral tonic-clonic seizure |
OMIM:269720 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Tremor, Ataxia, Choreoathetosis |
OMIM:612126 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Neutropenia, Choreoathetosis, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... |
OMIM:150550 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
| Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Babinski sign, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Ataxia, Spasti... |
OMIM:619065 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Death in infancy, Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Bilateral tonic-clonic s... |
ORPHA:98818 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Pigmentary retinopathy |
OMIM:614307 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... |
ORPHA:86909 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor, Seizure, Inab... |
ORPHA:330050 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
| Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... |
ORPHA:2382 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
| Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Focal-onset seizure, Difficulty walking |
OMIM:613608 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anemia, Retinal pigment epithelial atrophy, Anisocytosis, Poikilocytosis, Decr... |
OMIM:616959 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... |
ORPHA:382 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... |
OMIM:164500 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure |
OMIM:608278 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Broad-based gait, Focal-ons... |
OMIM:619157 |
| Retinal Venous Beading |
|
Retinal neovascularization, Neutropenia |
OMIM:180080 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxi... |
OMIM:614487 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to walk, Atonic s... |
OMIM:617810 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Short statur... |
ORPHA:208447 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Chorea, Focal e... |
ORPHA:178469 |
| Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ataxia, Parki... |
OMIM:618093 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, General... |
ORPHA:79137 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Splenomegaly, Hypertonia, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... |
ORPHA:101071 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia, Gait ataxia |
OMIM:254900 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
| Behr Syndrome |
|
Progressive spasticity, Optic atrophy, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Dystonia, Growth delay, Dysmetria, Focal impaired awareness seizure, Hemiparesis, Seizure, Postna... |
OMIM:251950 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... |
OMIM:619220 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
| Foxg1 Syndrome |
|
Dystonia, Severe postnatal growth retardation, Bilateral tonic-clonic seizure, Choreoathetosis, I... |
ORPHA:561854 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extra... |
ORPHA:93952 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Pseudobulbar paralysis |
OMIM:300388 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Specific Granule Deficiency 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules |
OMIM:617475 |
| Barth Syndrome |
|
Granulocytopenia, Neutropenia |
OMIM:302060 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
| Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Short stature, Lower limb spasticity, Seizure, Ataxia, ... |
ORPHA:464282 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Optic atrophy, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... |
ORPHA:216873 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, Myoclon... |
ORPHA:445038 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
| Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Seizure, Spasticity, Difficulty walking |
ORPHA:101685 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... |
ORPHA:572 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor ap... |
ORPHA:313772 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
| Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Gait disturbance, Simple febrile seizure, Limb myoclonus, Bilateral tonic-clonic seiz... |
ORPHA:352582 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
| Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Brain Small Vessel Disease 2 |
|
Growth delay, Bilateral tonic-clonic seizure, Spastic tetraplegia, Focal-onset seizure, Hemiplegia |
OMIM:614483 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Myoclonic seizur... |
OMIM:619616 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... |
OMIM:612541 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Focal impaired awareness seizure, Seizure... |
ORPHA:208441 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign |
OMIM:614947 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
| Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia |
OMIM:251100 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:600116 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia |
OMIM:600351 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Macrocytic anemia, Tremor |
OMIM:615578 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Spasticity |
OMIM:616281 |
| Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Paresthesia |
OMIM:615361 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Gait imbalance, Bilateral tonic-clonic seizure, Growth delay, Se... |
ORPHA:488635 |
| Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:609056 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... |
ORPHA:289266 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
| Severe Canavan Disease |
|
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Inability to walk, ... |
ORPHA:314911 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Ataxia, Hyperactivity, Status epilepticus, Hyperkinetic ... |
OMIM:271980 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Tremor, Oculomotor apraxia, Seizure, Status epilepticu... |
ORPHA:529665 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... |
ORPHA:158048 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
OMIM:617013 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seiz... |
ORPHA:485350 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
| Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... |
ORPHA:101 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia |
ORPHA:292 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tetraplegia, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased m... |
OMIM:618278 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
ORPHA:521406 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Tremor... |
OMIM:613179 |
| Corticobasal Syndrome |
|
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... |
ORPHA:454887 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Optic atrophy, Ataxia, Spasticity |
OMIM:300983 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... |
ORPHA:3006 |
| Propionic Acidemia |
|
Neutropenia, Limb hypertonia, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:606054 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Optic atrophy, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
| Hypermanganesemia With Dystonia 1 |
|
Rigidity, Polycythemia, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Poor ... |
OMIM:613280 |
| Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Pancytopenia, Lower limb hyper... |
ORPHA:2169 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Babinski sign, Tremor, Hypertonia, Spasticity |
OMIM:609260 |
| Immunodeficiency 23 |
|
Neutropenia, Abscess, Myoclonus, Cortical myoclonus, Ataxia, Lymphopenia, Eosinophilia, Hemolytic... |
OMIM:615816 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Neutropenia, Megaloblastic anemia, Incoordination, Pancytopenia, Thrombocytopenia |
OMIM:277380 |
| Cohen Syndrome |
|
Optic atrophy, Bone spicule pigmentation of the retina, Neutropenia, Leukopenia |
OMIM:216550 |
| Hsd10 Disease |
|
Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis |
ORPHA:391417 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Focal motor seizure, Spastic paraparesis, Generalized non-motor (... |
OMIM:619338 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Tremor, Ataxia, Reticulocytosis, Hemolytic anemia |
ORPHA:713 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia |
OMIM:619028 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... |
ORPHA:391411 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism |
OMIM:261640 |
| Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Tremor, Status epilepticus, Spastic parapleg... |
OMIM:612164 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Spastic tetraparesis, Neutropenia |
OMIM:608809 |
| Felty Syndrome |
|
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
| Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Neutropenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... |
OMIM:300894 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
| Chédiak-Higashi Syndrome |
|
Parkinsonism, Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Neutr... |
ORPHA:167 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, M... |
ORPHA:168491 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus |
OMIM:608105 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure, Chorea, Waddling gait, Truncal ataxia, Difficulty walking |
ORPHA:369840 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, Focal impaired awareness seizure, Spa... |
ORPHA:1947 |
| Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... |
ORPHA:99 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... |
OMIM:213600 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations |
OMIM:159950 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Ataxia, Gait ataxia, Tremor |
OMIM:618387 |
