| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Gait disturbance, Ataxia, Dementia |
ORPHA:2274 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... |
OMIM:616860 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Pappenheimer bodies, Cryptorchidism, Clonus, Cognitive impairment, Ataxia, ... |
OMIM:301310 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired pain sensation, Impaired temperature sensation, Abnormal m... |
DECIPHER:29 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Irritability, Tremor, Ataxia, Dystonia,... |
OMIM:612126 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy |
OMIM:617892 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:614561 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem... |
ORPHA:94090 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Chvostek sign, Hypocalcemic se... |
OMIM:146200 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuron morphology, Atrop... |
OMIM:602433 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Tremor, Irritability, Loss of ambulation, Rigidity, Thrombocytopenia, Hepatomegaly,... |
OMIM:615010 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... |
ORPHA:401901 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia |
OMIM:611105 |
| Sandhoff Disease, Adult Form |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... |
ORPHA:309169 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Neuronal loss in central nervous system, Cerebral atrophy... |
OMIM:105550 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells |
ORPHA:65684 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcemic tetany, Autoimmune hyp... |
ORPHA:36913 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Mental deterioration, Memory impairment, Depression, Athetosis, Chorea, Limb dysmetria, Tremor, R... |
OMIM:213600 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment,... |
OMIM:615768 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Chorea, Upper motor neuron dysfunction, Limb dystonia, Emotional lability... |
ORPHA:216873 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Hy... |
ORPHA:848 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:610951 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca... |
OMIM:618883 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... |
OMIM:613280 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... |
ORPHA:94086 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:94089 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... |
ORPHA:98762 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Abnormal lo... |
ORPHA:95434 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal... |
OMIM:615924 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Depression, Confusion, Gait ataxia, Emotional lability, Myoclonus, Tremor, ... |
OMIM:615362 |
| Trimethylaminuria |
|
Anemia, Depression, Splenomegaly, Neutropenia |
OMIM:602079 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Distal sensory impairment, Axonal degeneration |
OMIM:604484 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Classic Galactosemia |
|
Mental deterioration, Incoordination, Speech apraxia, Cryptorchidism, Action tremor, Decreased fe... |
ORPHA:79239 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... |
ORPHA:314632 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro... |
OMIM:159550 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unstea... |
OMIM:128235 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Intention tremor |
OMIM:266130 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... |
ORPHA:101109 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, L... |
ORPHA:94093 |
| Corticobasal Syndrome |
|
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... |
ORPHA:454887 |
| Migraine, Familial Hemiplegic, 1 |
|
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Aceruloplasminemia |
|
Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc... |
ORPHA:48818 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Type I diabetes mellitus, Cryptorchidism, Tremor, Gait dist... |
ORPHA:1192 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... |
ORPHA:2585 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:603233 |
| Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Motor deterioration, Ataxia, V... |
OMIM:256731 |
| Gaucher Disease, Type Iii |
|
Progressive neurologic deterioration, Depression, Spastic paraparesis, Pancytopenia, Myoclonus, S... |
OMIM:231000 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Lymphadenopathy, ... |
ORPHA:444463 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyr... |
OMIM:617145 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Memory impairment, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Sp... |
ORPHA:251282 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Niemann-Pick Disease, Type B |
|
Mental deterioration, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased ... |
OMIM:607616 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Hypermanganese... |
ORPHA:521406 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... |
OMIM:604326 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... |
OMIM:128230 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... |
OMIM:261630 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... |
OMIM:613313 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypogonadism, Hypocalcemic tet... |
OMIM:103580 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... |
OMIM:615234 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... |
OMIM:260300 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Limb ataxia, Degeneration of anterior horn cells, Ataxia |
OMIM:607596 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... |
ORPHA:101110 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytopenia, Neutr... |
OMIM:229050 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Tremor |
OMIM:312910 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Elevated circulating phytanic acid concentration, Abnormality of the live... |
OMIM:614307 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anem... |
OMIM:610539 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Mental deterioration, Memory impairment, Depression, Falls, Tremor, Rigidity, Dystonia, Parkinson... |
ORPHA:240085 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia |
OMIM:618618 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Transient hypophosphatemia, Anemia |
OMIM:127000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Hepatomegaly, Lethargy, Pancreatitis, Thrombocyto... |
ORPHA:289916 |
| Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to d... |
OMIM:616710 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Memory impairment, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase co... |
OMIM:614018 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... |
OMIM:611302 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Spinocerebellar Ataxia 48 |
|
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... |
OMIM:618093 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Huntington Disease-Like 2 |
|
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Dementia,... |
OMIM:606438 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypertonia, Anisocytosis |
OMIM:604273 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608627 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79443 |
| Ataxia-Telangiectasia |
|
Ataxia, Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Tre... |
ORPHA:100 |
| Pontocerebellar Hypoplasia Type 1 |
|
Cerebral cortical atrophy, Degeneration of anterior horn cells, Ataxia |
ORPHA:2254 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79444 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Gait ataxia, Emotional lability, Limb dystonia, Parkinsonism, Craniof... |
ORPHA:71517 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Decreased circulating ... |
OMIM:606159 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypocal... |
OMIM:241410 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ... |
OMIM:616719 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells |
OMIM:159950 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
OMIM:605909 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia... |
ORPHA:79312 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
| Phenylketonuria |
|
Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia, D... |
ORPHA:716 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... |
ORPHA:240103 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Brain atrophy, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells |
OMIM:301830 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Decreased testicular size, Hypocalcemic tetany, Abnormal circulating follicle-... |
ORPHA:93325 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... |
ORPHA:98763 |
| Hereditary Methemoglobinemia |
|
Spasticity, Limb dystonia, Methemoglobinemia, Hypertonia, Athetosis, Spastic tetraplegia |
ORPHA:621 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Gait ataxia... |
OMIM:600116 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Gait di... |
ORPHA:481 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Tremor, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Ataxia, Tes... |
OMIM:222300 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... |
OMIM:617013 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia |
OMIM:264070 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Progressive cerebellar a... |
ORPHA:276183 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, T... |
ORPHA:363400 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, L... |
ORPHA:466650 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Amyotrophic Lateral Sclerosis |
|
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... |
ORPHA:276435 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Emotional lability, Tremor, Waddling gait |
OMIM:616269 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Falls, Focal dystonia, Bradykinesia, Extrapyramidal muscular... |
ORPHA:99750 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia |
OMIM:250800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Cognitive impairment, Mot... |
ORPHA:79263 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... |
ORPHA:3077 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, Abnormal exteroceptive sen... |
OMIM:205100 |
| Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Neonatal death |
OMIM:300076 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Gait ataxia, Cerebellar atrophy |
ORPHA:438134 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... |
OMIM:235200 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau... |
OMIM:267700 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, H... |
OMIM:261640 |
| Saccharopinuria |
|
Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnor... |
ORPHA:3124 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, C... |
ORPHA:2590 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Idiopathic Camptocormia |
|
Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis, Lewy bodies, Syringomyelia |
ORPHA:1320 |
| Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia, Writer's cramp, ... |
ORPHA:428 |
| Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... |
ORPHA:98764 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia |
ORPHA:306669 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Emotional la... |
OMIM:201100 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Spinocerebellar Ataxia 7 |
|
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Abnormal lo... |
ORPHA:276244 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Memory impairment, Abnormality of the liver, Tremor, Biliary tract a... |
ORPHA:79234 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Short attention span, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, ... |
OMIM:619028 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Cryptorchidism, Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidis... |
ORPHA:2323 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Dysmetria, Atrophy/Degeneration affecting the brainstem, A... |
OMIM:612319 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... |
OMIM:616113 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Ataxia |
OMIM:617672 |
| Fragile X Tremor/Ataxia Syndrome |
|
Mental deterioration, Memory impairment, Depression, Resting tremor, Postural tremor, Gait ataxia... |
OMIM:300623 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... |
OMIM:602390 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... |
OMIM:208920 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls |
OMIM:619647 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Elevated circulating parathyroid hormone level, Difficulty walking, Leukocyto... |
ORPHA:289157 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce... |
ORPHA:713 |
| Parkinson Disease 14, Autosomal Recessive |
|
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... |
OMIM:612953 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy, Ataxia |
OMIM:615889 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremo... |
OMIM:615673 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Progressive neurologic de... |
ORPHA:254881 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Splenomegaly, Hepatomegaly, Hypophosphatemia, Cal... |
OMIM:239200 |
| Inherited Creutzfeldt-Jakob Disease |
|
Depression, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Short attention span... |
ORPHA:282166 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Male hypogonadism, Shuffling gait, Spastic tetraplegia, Resting tremor, Brady... |
OMIM:300055 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Distal sensory impairment |
ORPHA:600 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... |
OMIM:617916 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Mental deterioration, Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramida... |
ORPHA:542310 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Cystinosis |
|
Type I diabetes mellitus, Portal hypertension, Hypokalemia, Hypophosphatemia, Hypothyroidism, Del... |
ORPHA:213 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Primary am... |
OMIM:612526 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb f... |
OMIM:615157 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Steppage gait... |
OMIM:618387 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, ... |
ORPHA:309854 |
| Ataxia With Vitamin E Deficiency |
|
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyram... |
ORPHA:96 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Infertility, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Amenorrhea, H... |
ORPHA:465508 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... |
ORPHA:391411 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| 4H Leukodystrophy |
|
Mental deterioration, Decreased response to growth hormone stimulation test, Abnormality of thyro... |
ORPHA:289494 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... |
OMIM:101800 |
| Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... |
OMIM:616795 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Amyotrophic lateral sclerosis, Ataxia |
ORPHA:300605 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Delayed menarche, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
| Spinocerebellar Ataxia 50 |
|
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... |
OMIM:609812 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spinocerebellar ... |
OMIM:215470 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ... |
OMIM:313200 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Irritability, Rigidity, Hyperkinetic movements, Lethargy, Hyperphenylalaninemia, Limb hyp... |
OMIM:233910 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ... |
OMIM:603553 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... |
ORPHA:397946 |
| Hsd10 Disease |
|
Spastic paraparesis, Short attention span, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia,... |
ORPHA:391417 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hepat... |
ORPHA:699 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Leukocytosis, Thromb... |
ORPHA:340 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... |
OMIM:606693 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... |
ORPHA:300298 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... |
OMIM:612736 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... |
ORPHA:157846 |
| Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulatin... |
ORPHA:90117 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... |
OMIM:226990 |
| Gerstmann-Straussler Disease |
|
Spasticity, Memory impairment, Depression, Limb ataxia, Gait ataxia, Emotional lability, Myoclonu... |
OMIM:137440 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604320 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Sple... |
OMIM:613179 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atrophy |
OMIM:618165 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Failure to thrive, Death in infancy, Neonatal death |
OMIM:242500 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... |
ORPHA:562 |
| Lesch-Nyhan Syndrome |
|
Spasticity, Hyperuricemia, Abnormality of extrapyramidal motor function, Opisthotonus, Megaloblas... |
OMIM:300322 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... |
OMIM:619738 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Irritability, Erythroid hypoplasia, Hepatomegaly, Lethargy, Reti... |
OMIM:275350 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Mental deterioration, Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Emot... |
ORPHA:206443 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance |
OMIM:618090 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia |
ORPHA:329284 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Gait disturbance, Cognitive impairment, Ataxia, Dementia |
OMIM:603472 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia |
OMIM:619073 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Mental deterioration, Cholelithiasis, Memory impairment, Depression, G... |
ORPHA:79095 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... |
ORPHA:210128 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Dysmetria, Tremor, Limb hypertonia, Thrombocytopenia, Ataxia, Hypertonia, Dystonia,... |
OMIM:617710 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia |
OMIM:618587 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Confusion, Chorea, Gait ataxia, Action tremo... |
OMIM:607483 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia, Elevated circulating parathyroid hormo... |
OMIM:617994 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... |
OMIM:208900 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Falls, Progressive extrapyramidal muscular rigidity, Akinesi... |
ORPHA:240071 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Hepatosplenomegaly, Hypophosphatemic rickets, Hyp... |
OMIM:307800 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... |
ORPHA:1170 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe... |
ORPHA:101096 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Depression, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dy... |
ORPHA:227510 |
| Pelizaeus-Merzbacher Disease |
|
Mental deterioration, Broad-based gait, Depression, Spastic paraplegia, Generalized dystonia, Ina... |
OMIM:312080 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Mental deterioration, Postural tremor, Gait ataxia, Action tremor, Myoclonus, Th... |
OMIM:254900 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:263400 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at... |
ORPHA:101 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, E... |
OMIM:614298 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, De... |
OMIM:300894 |
| Lead Poisoning |
|
Depression, Memory impairment, Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sp... |
ORPHA:330015 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Multiple System Atrophy, Parkinsonian Type |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... |
ORPHA:98933 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... |
ORPHA:70594 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Cognitive ... |
ORPHA:98773 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Hypogonadotropic hypogonadism... |
OMIM:607694 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... |
ORPHA:263455 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Depression, Falls, Bradykinesia, Emotional lability, Tremor, Ir... |
ORPHA:683 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... |
ORPHA:2088 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... |
OMIM:301078 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Tremor, Ataxia, Hepatomegaly |
ORPHA:87876 |
| Insulinoma |
|
Transient global amnesia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pit... |
ORPHA:97279 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... |
OMIM:619911 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria,... |
OMIM:615491 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Hepatomega... |
OMIM:214500 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Bradykinesia, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor,... |
OMIM:183090 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Mental deterioration, Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic atax... |
ORPHA:137898 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti... |
OMIM:274150 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Chorea, Gait at... |
OMIM:610217 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Un... |
OMIM:617435 |
| Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Shuffling gait, Focal dystonia, Generalized dystonia, Inability to walk, Tr... |
ORPHA:52368 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Dent Disease 2 |
|
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F |
OMIM:617101 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating glutaric acid concentration, Bilateral cryptorchidism, Normochromic microcyt... |
ORPHA:66634 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume |
OMIM:616943 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... |
OMIM:618877 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Spasticity, Splenomegaly, Macrocytic anemia, Tremor, Dystonia,... |
OMIM:615512 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of ambu... |
OMIM:607426 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Mental deterioration, Spasticity, Depression, Akinesia, Acanthocytosis, Tremor, Ri... |
OMIM:234200 |
| Typhoid |
|
Splenomegaly, Tremor, Lethargy, Hypertonia, Ataxia, Hepatomegaly |
ORPHA:99745 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa... |
ORPHA:157215 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Spasticity, Stomatocytosis, Inability to walk, Splenomegaly, Hepatomegaly, Conjugated hyperbiliru... |
OMIM:608885 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Niemann-Pick Disease, Type C1 |
|
Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Prolonge... |
OMIM:257220 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Hypocalcemia, Irritability, H... |
OMIM:264700 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... |
OMIM:619405 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Difficulty walking, Leukocytosis, Tremor, Gait disturbance, Steppage gait, Frequent falls, Choreo... |
ORPHA:206594 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Tortic... |
OMIM:128100 |
| Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypog... |
OMIM:308750 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Hepatomegaly, Lethargy, Thrombocytopenia, ... |
OMIM:251100 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t... |
ORPHA:3095 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Babinski sign, ... |
OMIM:302800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus |
OMIM:616026 |
| Sneddon Syndrome |
|
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia |
ORPHA:820 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Cognitive impairment, Ataxia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Spasticity, Leukopenia, Myoclonus, Hepatic steatosis, Tremor, Hyperkinetic movements, Opi... |
OMIM:616271 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Mental deterioration, Spasticity, Involuntary movements, Difficulty walking, Abnormality of coord... |
ORPHA:442835 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphol... |
ORPHA:275872 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Depression, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with f... |
OMIM:157640 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... |
ORPHA:209335 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Young-Onset Parkinson Disease |
|
Spasticity, Depression, Male sexual dysfunction, Female sexual dysfunction, Frontal lobe dementia... |
ORPHA:2828 |
| Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia |
ORPHA:2611 |
| Classic Phenylketonuria |
|
Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, Attention de... |
ORPHA:79254 |
| Parkinson Disease 1, Autosomal Dominant |
|
Mental deterioration, Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Loss of am... |
OMIM:168601 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
| Citrullinemia Type Ii |
|
Hepatic steatosis, Hepatomegaly, Delirium, Mania, Hypoproteinemia, Memory impairment, Irritabilit... |
ORPHA:247585 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Perry Syndrome |
|
Short stepped shuffling gait, Depression, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Fro... |
OMIM:168605 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par... |
ORPHA:329478 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Tre... |
ORPHA:457240 |
| Sneddon Syndrome |
|
Lymphopenia, Tremor, Hemiplegia, Mental deterioration |
OMIM:182410 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Depression, Microphallus, Cryptorchidism, Tremor, Hyperkinetic movements, Gait distur... |
OMIM:300957 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Cognitive impairment, Neutropen... |
ORPHA:167 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Irritability, Hypophosphatemi... |
OMIM:277440 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Cerebral cortical atrophy |
OMIM:606353 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cerebral atrophy |
OMIM:611890 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Periodic hypokalemic paresis, H... |
ORPHA:79102 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... |
ORPHA:158048 |
| Parkinson Disease 20, Early-Onset |
|
Mental deterioration, Shuffling gait, Short stepped shuffling gait, Involuntary movements, Tremor... |
OMIM:615530 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Splenomegaly, Irritabi... |
ORPHA:525731 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous system,... |
OMIM:256600 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia |
OMIM:607876 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... |
OMIM:168600 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... |
OMIM:614867 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Abnormal circulating bio... |
ORPHA:1578 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemi... |
OMIM:227810 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Difficulty walking, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium conc... |
OMIM:241530 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Hypospadias, HbH hemoglobin, Cryptorchidism |
ORPHA:98791 |
| Tay-Sachs Disease |
|
Incoordination, Mania, Poor fine motor coordination, Precocious puberty, Memory impairment, Depre... |
ORPHA:845 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria |
OMIM:618913 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hypophosphatemia, H... |
OMIM:605911 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea... |
ORPHA:457077 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... |
ORPHA:288 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Cryptorchidism, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyel... |
OMIM:618060 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Memory impairment, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention t... |
ORPHA:247234 |
| Niemann-Pick Disease Type C |
|
Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... |
ORPHA:646 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Chorea, Cerebral atrophy |
ORPHA:309246 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Difficulty walking, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Myoclonus, Irritability, Ankle clonus, Lethargy, Th... |
OMIM:620423 |
| Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... |
ORPHA:99879 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:93160 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia, Hepatomegaly, ... |
ORPHA:469 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Depression, Increased circulating prolactin concentration, Difficulty walking, Inability ... |
OMIM:617675 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Elevated circ... |
OMIM:248250 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment |
OMIM:263570 |
| Necrotizing Enterocolitis |
|
Ascites, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Lethargy, Perit... |
ORPHA:391673 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Difficulty walking, Hypercal... |
ORPHA:249 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Tremor, Fasciculations |
ORPHA:99965 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Tremor, Hypocalcemia, Hepatomegaly, Hypophosphatemia, Lymphadenopathy, Anemia |
ORPHA:667 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... |
OMIM:262190 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... |
OMIM:616840 |
| Acquired Methemoglobinemia |
|
Confusion, Methemoglobinemia |
ORPHA:464453 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Cardiom... |
OMIM:105210 |
| Perry Syndrome |
|
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Dementia |
ORPHA:178509 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Abno... |
OMIM:614381 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Exo... |
OMIM:219800 |
| Beta-Ketothiolase Deficiency |
|
Spasticity, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperurice... |
ORPHA:134 |
| Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Depression, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparathyr... |
OMIM:600740 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, C... |
ORPHA:391428 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Abnormal circulating creati... |
ORPHA:199351 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria |
OMIM:618857 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Adrenoleukodystrophy |
|
Neurodegeneration, Truncal ataxia, Limb ataxia, Impaired vibration sensation at ankles |
OMIM:300100 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord |
ORPHA:35689 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Cognitive impairment, A... |
ORPHA:99027 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopathy, Hepatomegaly |
ORPHA:3162 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia, Waddling gait |
OMIM:156400 |
| Wilson Disease |
|
Hypouricemia, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism... |
OMIM:277900 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Spasticity, Glycosuria, Exocrine pancreatic insufficiency, Glucose intolerance, Tremor, Irritabil... |
OMIM:616539 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Neurodegeneration, Cerebellar atrophy, Brain atrophy, Diffuse cerebral atrophy |
OMIM:214150 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Spastic paraplegia, Depression, Abnormality of the male genitalia, Abnormal hemoglobin, Cryptorch... |
ORPHA:847 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphate... |
OMIM:612089 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Tremor, Hypokalemia, Increased circulating T4 concentration, Increased circulating free T... |
OMIM:613239 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Depression, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal... |
OMIM:612716 |
| Krabbe Disease |
|
Neurodegeneration, Diffuse cerebral atrophy |
OMIM:245200 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:134600 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Fasting h... |
ORPHA:25 |
| Choreoacanthocytosis |
|
Mental deterioration, Resting tremor, Acanthocytosis, Emotional lability, Limb dystonia, Loss of ... |
ORPHA:2388 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Difficulty walking, Limb dystonia, Dysmetria, Tremor, Limb hypertonia, Thrombocytopenia, Ataxia, ... |
ORPHA:572798 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:352540 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, Glycosuria |
OMIM:613388 |
| Kallmann Syndrome |
|
Ataxia, Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic gonadot... |
ORPHA:478 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
| Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler... |
ORPHA:411602 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Scrub Typhus |
|
Lethargy, Splenomegaly, Tremor, Lymphadenopathy |
ORPHA:83317 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Dementia, Confusion, Hypomethioninemia, Tremor, Abnormality of extrapyramidal m... |
OMIM:277400 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Mental deterioration, Spasticity, Bone marrow hypocellularity, Hemiplegia, Tremor, Abnormality of... |
OMIM:612199 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Caudate atrophy, Cerebral atrophy |
OMIM:221770 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Depression, Abnormal circulating calcium-phosphate regulating hormone concen... |
ORPHA:534 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Chorea, Cerebral atrophy |
OMIM:272750 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... |
ORPHA:79139 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration |
ORPHA:478029 |
| Fructose Intolerance, Hereditary |
|
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hepatic steatosis, Hyperuricemia, Lethargy, Hypopho... |
OMIM:229600 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Cognitive impairment, Ataxia, Bradykinesia, Depression, Goiter, Abnormality of th... |
ORPHA:254892 |
| Cockayne Syndrome Type 1 |
|
Male hypogonadism, Difficulty walking, Cryptorchidism, Tremor, Hepatomegaly, Gait disturbance, Lo... |
ORPHA:90321 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neurodegeneration, Cerebellar atrophy, Neuronal loss in central nervous system |
OMIM:616239 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Hepatic steatosis, Tremor, Elevate... |
OMIM:615356 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Leukemia, Pure r... |
ORPHA:99867 |
| Infantile Nephropathic Cystinosis |
|
Glycosuria, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Cognitive impairmen... |
ORPHA:411629 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... |
OMIM:601104 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Aicardi-Goutières Syndrome |
|
Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Difficulty walking, Extrap... |
ORPHA:51 |
| Metachromatic Leukodystrophy |
|
Progressive spasticity, Tip-toe gait, Decerebrate rigidity, Incoordination, Emotional lability, T... |
ORPHA:512 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Tip-toe gait, Hypoglycemia, Hyperglycemia, Hyperammonemia, Tremor, H... |
ORPHA:3008 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Ataxia |
OMIM:618321 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Corpus callosum atrophy, Gait ataxia, Abnormal upper motor neuron m... |
OMIM:601162 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Neurodegeneration, Cerebellar atrophy, Ataxia |
OMIM:615919 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia, Impotence |
OMIM:146500 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Depression, Incoordination, Speech apraxia, Leukopenia, Leukocytosis, Trem... |
ORPHA:297 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Memory impairment, Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Dementia,... |
ORPHA:447753 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Depression, Abnormal pineal melatonin secretion, Ascites, Hyperbilirubinemia, Cholecystitis, Trem... |
ORPHA:69665 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Elevated circulating creatine kinase conce... |
OMIM:606002 |
| Joubert Syndrome With Hepatic Defect |
|
Portal hypertension, Splenomegaly, Tremor, Congenital hepatic fibrosis, Intrahepatic biliary atre... |
ORPHA:1454 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, HbH hemoglobin, Cryptorchidism, Hypochromic microcytic anemia, Shawl scrotum, Micrope... |
OMIM:301040 |
| Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Tremor, Rigidity |
OMIM:616361 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... |
ORPHA:99880 |
| Gaucher Disease |
|
Pancytopenia, Cirrhosis, Ataxia, Hepatomegaly, Elevated circulating C-reactive protein concentrat... |
ORPHA:355 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... |
ORPHA:143 |
| Dent Disease 1 |
|
Hypophosphatemia, Glycosuria |
OMIM:300009 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration |
OMIM:176500 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... |
ORPHA:3337 |
| Steinert Myotonic Dystrophy |
|
Mental deterioration, Hyperinsulinemia, Decreased fertility, Emotional lability, Cognitive impair... |
ORPHA:273 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Gait ataxia, Cerebral atrophy, Ataxia |
OMIM:616878 |
| Cerebral Visual Impairment |
|
Neurodegeneration, Central nervous system degeneration |
ORPHA:447788 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia |
OMIM:618476 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Listeriosis |
|
Brain abscess, Myoclonus, Cholecystitis, Tremor, Irritability, Hemiparesis, Abscess, Peritonitis,... |
ORPHA:533 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Central adrenal insu... |
ORPHA:91347 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| African Trypanosomiasis |
|
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Delirium, Jaundice, Hepatomegaly, Choreoathe... |
ORPHA:3385 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Cervical cord compression |
OMIM:309900 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Clonus, Hypertonia, Neutropenia, Jaundice, Dystonia, Neonatal hypoglycemia |
OMIM:617248 |
| X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Abnormality of the Leydig cells, Inability to walk, Myoclonus, Cryptorchid... |
ORPHA:3063 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Dent Disease |
|
Renal hypophosphatemia, Glycosuria, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
| Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets, Tooth abscess |
ORPHA:289176 |
| X-Linked Hypophosphatemia |
|
Tooth abscess, Hypophosphatemia |
ORPHA:89936 |
| Alkaptonuria |
|
Black pigment gallstones, Methemoglobinemia, Prostatitis, Hypothyroidism, Hemolytic anemia |
ORPHA:56 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration, Ataxia |
OMIM:619475 |
| Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
| Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
| Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
| Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle |
OMIM:227646 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Neurodegeneration |
OMIM:620455 |
| Primrose Syndrome |
|
Neurodegeneration, Ataxia |
OMIM:259050 |
