Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Absent Achilles reflex, Dysdiadochokinesis |
OMIM:311050 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Spinal Muscular Atrophy, Jokela Type |
|
Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ... |
OMIM:615048 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... |
ORPHA:79445 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower li... |
ORPHA:94124 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele... |
OMIM:614369 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus |
OMIM:607250 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, Hypoalbuminemia, B lymphocytopenia, Decrease... |
OMIM:241600 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus |
OMIM:617018 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis, Pes cavus |
OMIM:158580 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis |
OMIM:309560 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, ... |
OMIM:209950 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the finger... |
ORPHA:79320 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... |
OMIM:613839 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dys... |
ORPHA:94090 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Neutropenia, Intention tr... |
OMIM:266130 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hyperhomocystinemia, Lower limb h... |
ORPHA:2169 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... |
OMIM:616267 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Bowing of the long bones, Macular scar, Hydroxyprolinemia, Lateral femoral bowing,... |
OMIM:239000 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... |
OMIM:127000 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta... |
OMIM:103580 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dystonia, Hypoc... |
ORPHA:36913 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... |
OMIM:612462 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:612561 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia... |
ORPHA:1667 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... |
ORPHA:811 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Ane... |
OMIM:159550 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s... |
OMIM:241410 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait, Hypertonia, Myoclonus, Anemia |
OMIM:610090 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Hypocalcemic seizures, Hy... |
ORPHA:79444 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Involuntary movements, Broad 1st metacarpal... |
ORPHA:79443 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ... |
ORPHA:93325 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:619013 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmentary retinop... |
OMIM:614307 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Optic atrophy, ... |
OMIM:101800 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp... |
ORPHA:94089 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Metaphyseal widening, Inability to walk, Clubbing, Optic atrophy, Anemia, Leukopeni... |
OMIM:617303 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia ... |
OMIM:607143 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,... |
OMIM:610185 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529799 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... |
ORPHA:14 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening |
OMIM:617994 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... |
ORPHA:2298 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Hypophosphatemia, Retinopathy, Aplasi... |
ORPHA:2611 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Spastic tetraparesis, Coxa va... |
ORPHA:356961 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia |
OMIM:240800 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... |
OMIM:226300 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia |
OMIM:612562 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Optic... |
ORPHA:401768 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys... |
ORPHA:33445 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Pedal edema |
ORPHA:84090 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equinovarus, Camp... |
OMIM:608104 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Hyporeflexi... |
ORPHA:98763 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Sanjad-Sakati Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, H... |
ORPHA:247353 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... |
OMIM:301310 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus |
OMIM:607458 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co... |
OMIM:241530 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Optic atrophy, Hammertoe, Hypertonia, Steppage gait, Spasticity, Pes cavus |
OMIM:609260 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Equinovarus deformity, Tremor, Abnormal foot morphology, Inability to walk, Hip dysplasia, Gait d... |
ORPHA:101077 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Ataxia, Tremor, Limb dystonia |
OMIM:620270 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Peroxisome Biogenesis Disorder 5B |
|
Retinal dystrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentratio... |
OMIM:614867 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hemipar... |
ORPHA:444463 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis,... |
ORPHA:289916 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Cortical myoclonus |
ORPHA:428 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Small hand, Waddling gait |
OMIM:616269 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ... |
ORPHA:124 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Spastic tetraparesis, Optic atrophy, Chorioretinal atrophy, Spastic tetraplegia... |
OMIM:619487 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... |
ORPHA:713 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Micrognathia |
ORPHA:446 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Poor motor coo... |
OMIM:277900 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... |
OMIM:105650 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholest... |
OMIM:616730 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Unsteady gait, Hypopla... |
OMIM:210000 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Tremor, Calf muscle h... |
ORPHA:209335 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Pes cavus, Spastic gait |
OMIM:600363 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Hip dysplasia, Increased mean ... |
ORPHA:261250 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphysea... |
OMIM:156400 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Hy... |
OMIM:619055 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Spastic tetraplegi... |
OMIM:300438 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin... |
ORPHA:79324 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Ankle clonus, Short foot, Bradykinesi... |
OMIM:617435 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia, Genu valgum |
OMIM:618913 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, P... |
OMIM:213200 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus,... |
OMIM:618241 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals... |
ORPHA:760 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Hemiatrophy, Dystonia, Difficulty walking |
ORPHA:306669 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300554 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Bowing of the legs |
OMIM:146350 |
Cystinosis |
|
Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitu... |
ORPHA:213 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Micrognath... |
OMIM:608799 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, S... |
OMIM:618329 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentratio... |
ORPHA:157215 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax... |
ORPHA:3095 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Abnormal hip bone morphology, Hypophosph... |
ORPHA:93160 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... |
OMIM:159950 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Clubbing, Hypoalbuminemia, Anemia |
OMIM:174900 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... |
OMIM:242150 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-cone dystrop... |
OMIM:212065 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Mpi-Cdg |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemi... |
OMIM:617093 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Pes cavus, Ataxia |
ORPHA:101075 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Pes cavus |
ORPHA:99014 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Absen... |
OMIM:302800 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls |
OMIM:616719 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertoni... |
OMIM:617710 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Abnormality of the lower limb, Eleva... |
ORPHA:36234 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300009 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Pes cavus, Ataxia |
OMIM:278780 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... |
ORPHA:289157 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Split hand, Talipes calcaneovalgus, Hammertoe, Steppage gait, Gait disturbance, Pes cavus |
OMIM:118300 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Gait disturbance, Pes cavus, Ataxia |
ORPHA:101078 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyram... |
ORPHA:363400 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype... |
OMIM:261640 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Type I diabetes mellitus, Anemia |
ORPHA:1192 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Talipes equinovarus... |
OMIM:619743 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Pes planus, Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine... |
ORPHA:88618 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Ataxia, Micrognathia, Optic atrophy, Spastic tetraplegia, Hypoalbuminemia, Talipes equi... |
OMIM:251300 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hy... |
ORPHA:2088 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II diabetes mellitus, Spasticity, Lymph... |
ORPHA:100 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Lim... |
OMIM:222300 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ataxia, Slurred speech, Clumsiness,... |
ORPHA:137898 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia |
OMIM:193100 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Abnorm... |
ORPHA:352649 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:276608 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hypoalbuminemia |
OMIM:614441 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Spasticity, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k... |
ORPHA:36387 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Tetraplegia, Hepatosplen... |
OMIM:618278 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Tremor, Leukocytosis, Absent patellar reflexes, Abnormality of ... |
ORPHA:206594 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Small hand, ... |
OMIM:300055 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabilit... |
OMIM:208900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... |
ORPHA:1988 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Metaphyseal irregularity |
OMIM:239200 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Cystathioninuria |
|
Cystathioninemia, Tremor, Talipes equinovarus |
ORPHA:212 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased circulating carnitine concentration, Decreased serum zinc... |
ORPHA:89842 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Hepatosplenomegaly, Anemia... |
ORPHA:505248 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... |
OMIM:616738 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia,... |
OMIM:616505 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul... |
OMIM:607694 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Clinodactyly, Pes... |
OMIM:619092 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Xfe Progeroid Syndrome |
|
Poor coordination, Optic atrophy, Hypoalbuminemia, Pes cavus, Attenuation of retinal blood vessels |
OMIM:610965 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Ant... |
ORPHA:249 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Rhizomelia, Ataxia, Neonatal hypoglycemia, Micrognathia, Tremor, Opisthotonus, Choreoat... |
OMIM:616271 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait |
OMIM:616795 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoplastic iliac wing, Small hand, Short foot, Cutaneous finger syndactyly, Hypoalbuminemia, Tal... |
OMIM:235510 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, A... |
ORPHA:79076 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia |
ORPHA:85443 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Avascular necrosis of the capital femoral epiphysis, Splenomegaly... |
OMIM:222470 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Abnormal o... |
ORPHA:83629 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno... |
ORPHA:89936 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Pes planus, Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, ... |
ORPHA:1170 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Hip dislocation, Hypoalbuminemia, Camptodactyly, Spasticity |
OMIM:617729 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Splenomegaly, Hypomagnesemia, Hypophosp... |
ORPHA:699 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Inability to wa... |
OMIM:617675 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss... |
OMIM:607426 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Hyperkalemia, Paraplegia, Anemi... |
OMIM:617053 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Abnormal foot morphology,... |
OMIM:234200 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... |
OMIM:214500 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Hip dislocation, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:614381 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus |
OMIM:616113 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... |
ORPHA:96334 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Tremor, Splenomegaly, Abnormal epiphysis morphology, Hypocalcemia, Hypo... |
ORPHA:667 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg... |
ORPHA:247234 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Broad-based gait, Ataxia, Diabetes mellitus, Insulin re... |
OMIM:616541 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, B... |
ORPHA:309854 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... |
OMIM:263520 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R... |
ORPHA:79102 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glycosuria, Fasting hypo... |
ORPHA:263455 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, Spastic t... |
OMIM:617237 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Tremor, Optic at... |
OMIM:612199 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
Sneddon Syndrome |
|
Tremor, Lymphopenia, Hemiplegia |
OMIM:182410 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Clubbing, Hypochromic micro... |
ORPHA:97214 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Involuntary m... |
ORPHA:480864 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Type ... |
ORPHA:79095 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph... |
ORPHA:3226 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi... |
ORPHA:289176 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Splenomegaly, Metaphyseal widening, Retinal pigment epithelial m... |
OMIM:219800 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Hypoalbuminemia, Anemia |
ORPHA:79396 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Hypophosphatemia |
OMIM:613388 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Tremor, Positional foot deformity, Spastic tetraplegia, Dysmetria,... |
ORPHA:572798 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Clubbing of fingers, Areflexia of lower limbs, F... |
OMIM:619574 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fasciculations, Difficul... |
ORPHA:329478 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Type I diabete... |
ORPHA:171 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Elevate... |
ORPHA:1652 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, Bilate... |
OMIM:619708 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Tremor, Dysmetria, Pigmentary retinopathy, Progressive cerebella... |
ORPHA:502423 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Opisthotonus, T lymphocytopenia, Hypertonia, Narrow greater sciatic notch, Short ph... |
ORPHA:508533 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Tremor, Splenomegaly, ... |
OMIM:615512 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Glycosuria |
ORPHA:411629 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Retinal hemorrhage, Athetosi... |
ORPHA:25 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia, Pedal edema |
ORPHA:567546 |
Methylmalonic Aciduria, Cbla Type |
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Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni... |
OMIM:251100 |
Schimke Immuno-Osseous Dysplasia |
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Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Hyperlipidemi... |
ORPHA:1830 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... |
OMIM:615356 |
Perry Syndrome |
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Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Dystonia 2, Torsion, Autosomal Recessive |
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Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ... |
ORPHA:508542 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... |
OMIM:617425 |
Spastic Paraplegia 9B, Autosomal Recessive |
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Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Japanese Encephalitis |
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Hyponatremia, Neutrophilia, Genu recurvatum, Weakness due to upper motor neuron dysfunction, Dyst... |
ORPHA:79139 |
Staphylococcal Necrotizing Pneumonia |
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Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Schimke Immunoosseous Dysplasia |
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Waddling gait, Pancytopenia, Hypoplasia of the capital femoral epiphysis, Abnormal T cell morphol... |
OMIM:242900 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Chorioretinal dysplasia, Hypoammonemia, Micrognathia, Clonus, Thrombocytopenia, Hip... |
ORPHA:534 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess |
OMIM:619752 |
Parkinson Disease, Late-Onset |
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Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Mccune-Albright Syndrome |
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Pancytopenia, Abnormal femur morphology, Hypophosphatemia |
ORPHA:562 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Immunodeficiency 23 |
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Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Myoclonus, Neutropenia, Lymphopenia, Cortical my... |
OMIM:615816 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Abno... |
ORPHA:3008 |
Immunodeficiency 36 With Lymphoproliferation |
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Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli... |
OMIM:618056 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Adult-Onset Still Disease |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Raine Syndrome |
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Bowing of the long bones, Micromelia, Micrognathia, Hypophosphatemia, Long hallux, Brachydactyly |
OMIM:259775 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Glucose intolerance, Hyperton... |
OMIM:616539 |
Progressive Supranuclear Palsy |
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Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... |
OMIM:607944 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia |
ORPHA:2268 |
Fibrochondrogenesis 1 |
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Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Occipital Horn Syndrome |
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Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Omodysplasia 2 |
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Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Fructose Intolerance, Hereditary |
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Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia, Splenomegaly, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Parkinson Disease 21 |
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Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Splenomegaly, Increased circula... |
OMIM:619534 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormal metaphysis morphology, Lymphopenia, Long fibula, Anemia |
ORPHA:935 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Vici Syndrome |
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Macular atrophy, Elevated circulating creatine kinase concentration, Micrognathia, Ocular albinis... |
OMIM:242840 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Hypophosphatemia |
OMIM:104200 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Campomelic Dysplasia |
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11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hypoalbuminemia, Eosinophilia, Pedal edema |
ORPHA:75565 |
Khan-Khan-Katsanis Syndrome |
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Postaxial polydactyly, Micrognathia, Pigmentary retinopathy, Hypertonia, Neutropenia, Clinodactyl... |
OMIM:618460 |
Pmm2-Cdg |
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Pes planus, Ataxia, Abnormality of coordination, Long fingers, Reduced thyroxin-binding globulin,... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Overlapping toe, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Low... |
ORPHA:99843 |
Niemann-Pick Disease Type C |
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Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ... |
ORPHA:646 |
Campomelic Dysplasia |
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Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Familial Hypocalciuric Hypercalcemia |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Polydactyly, Postaxial, Type A7 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Kinetic tremor |
OMIM:190310 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
Autoimmune Lymphoproliferative Syndrome |
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Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
3-Methylglutaconic Aciduria, Type Viii |
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Clonus, Tremor, Neutropenia, Hypertonia, Dystonia, Neonatal hypoglycemia |
OMIM:617248 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Familial Mediterranean Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Whim Syndrome |
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Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutropenia, Lymphopenia |
ORPHA:51636 |
Parathyroid Carcinoma |
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Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Hyper-Igd Syndrome |
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Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Kinsship Syndrome |
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Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, ... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Yellow Fever |
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Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |