| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| 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 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hypertensi... |
OMIM:617021 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
OMIM:617388 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... |
OMIM:278730 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Vernal Keratoconjunctivitis |
|
Scarring, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
| Aceruloplasminemia |
|
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Decrea... |
ORPHA:48818 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Reduced bone mineral density, Hypotriglyceridemia, Corneal scarring, Increased susceptibility to ... |
ORPHA:404454 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, Increased mean... |
OMIM:612561 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Aplastic anemia, Joint hypermobility... |
OMIM:617052 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Dementia, Falls, Gait imbalance... |
ORPHA:240094 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Gait disturban... |
ORPHA:93160 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
| Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Dystonia, Memory impairment |
ORPHA:454887 |
| Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Depression, Memory impairment, Irritability, Gait disturban... |
ORPHA:306682 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility |
OMIM:615225 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Ricke... |
OMIM:600081 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cogni... |
OMIM:607454 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Trip... |
OMIM:612562 |
| Kid Syndrome |
|
Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Keratitis, Corneal erosion, Patellar h... |
ORPHA:477 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed... |
OMIM:264700 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment |
ORPHA:98773 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Perry Syndrome |
|
Akinesia, Tremor, Frontotemporal dementia, Weight loss, Depression, Dystonia, Short stepped shuff... |
OMIM:168605 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed... |
OMIM:277440 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit... |
ORPHA:848 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Social and occupational deterioration, Falls, Ga... |
ORPHA:240071 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentra... |
OMIM:241530 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Acerulop... |
OMIM:604290 |
| Congenital Myopathy 12 |
|
Arachnodactyly, Small for gestational age, Akinesia, Jaw contracture, Abnormal circulating creati... |
OMIM:612540 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Arachnodactyly, Abnormal dental enamel morphology, Obesit... |
ORPHA:567 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memo... |
ORPHA:247234 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Tremor, Dementia, Dystonia, Mental deterioration |
OMIM:300894 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... |
OMIM:158310 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentrat... |
OMIM:175780 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Absent thumb, Erythroid... |
ORPHA:124 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, F... |
ORPHA:213 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpusc... |
ORPHA:261250 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Weight loss, Depression, Dementia, Shuffling gait, Low frustration tole... |
ORPHA:411602 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Inguinal hernia, Dystonia, Rocker bottom foot, Akinesia, Acanthocytosis, Cardi... |
OMIM:618947 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Dementia, Gait disturbance, Dystonia |
OMIM:606693 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... |
OMIM:604250 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Absent thumb, Short thumb, ... |
OMIM:105650 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Irritability, Joint contracture, Failure to thrive |
OMIM:616881 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossif... |
OMIM:300554 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Arachnodactyly, Ataxia, Akinesia, Lipodystrophy, Tremor, Inability to walk... |
ORPHA:86309 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Iron deficiency anemia... |
OMIM:212750 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration |
OMIM:616840 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Increased corneal thickness, Duplication of thumb ... |
ORPHA:2363 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Small for gestational age, Akinesia, Hypochromic microcytic anemia, Hyp... |
OMIM:619147 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin satu... |
OMIM:606069 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Cong... |
OMIM:613313 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Depression, Tremor by anatomical site, Abnormal aggr... |
ORPHA:97349 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Antalgic gait, Thin bony cortex, Abn... |
ORPHA:249 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Joint contra... |
OMIM:617864 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Akinesia, Adducted thumb |
OMIM:619334 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum... |
OMIM:277900 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Congestive heart failure, Increased circulating ferritin concentration, Dilated car... |
OMIM:602390 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Akinesia, Choreoathetosis, Truncal ataxia, Hyperalaninemia, Failure to thrive |
OMIM:618249 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Akinesia, Multiple pterygia, Flexion contracture, Increased susceptibility to f... |
OMIM:253290 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... |
OMIM:608013 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Ataxia, Osteoporosis, Rickets |
OMIM:560000 |
| Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Cho... |
OMIM:600740 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... |
ORPHA:2176 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... |
ORPHA:845 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Arthrogryposis multiplex congenit... |
ORPHA:994 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Steppage gait, Increased total iron binding capacity, Unconjugated hyp... |
OMIM:613280 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Portal hypertension, Joint stiffness, Splenomegaly... |
ORPHA:465508 |
| Dent Disease 1 |
|
Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossif... |
OMIM:300009 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Irritability, Falls, Gait imbalance, Retrocollis, Memo... |
OMIM:609454 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Irritability, Falls, Gait imbalance, Retrocollis, Limb dystonia... |
OMIM:601104 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Craniosynostosis, Bowing... |
ORPHA:89936 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... |
OMIM:227810 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Difficulty walking |
ORPHA:320406 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets, Bowing of the legs |
OMIM:615605 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma... |
ORPHA:79303 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Tremor, Depression, Choreoathetosis, Blepharospasm, Dementia, G... |
OMIM:234200 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Depression, Opisthotonus, Hypertension, Anemia |
OMIM:184850 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Hypokalemia, Abnormal cornea morphol... |
ORPHA:411629 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, Hyper... |
ORPHA:309854 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Akinesia, Pterygium |
OMIM:225790 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Increased circulating ferritin concentration, Congestive heart failure, Osteoporosi... |
OMIM:235200 |
| Dent Disease |
|
Thin bony cortex, Cataract, Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Bowing of ... |
ORPHA:1652 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to... |
ORPHA:2088 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Keratitis, Postaxial hand polydactyly, Hypertension, Ectrodactyly, ... |
OMIM:308205 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Dilated cardiomyop... |
ORPHA:89842 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Neu-Laxova Syndrome |
|
Osteopenia, Cataract, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Opist... |
ORPHA:2671 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulat... |
OMIM:309000 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Flexion contracture... |
OMIM:617301 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Clinodactyly of... |
OMIM:618056 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Inguinal her... |
OMIM:613658 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism, Hiatus hernia |
OMIM:614619 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Overlapping toe, Exaggerated startle response, Ataxia |
OMIM:618598 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur m... |
ORPHA:562 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca |
ORPHA:309031 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Lentiglobus, Hyponatremia, Osteomalacia, Abnormal denta... |
ORPHA:534 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Syncope, Hiatus hernia |
OMIM:614618 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract, Limb joint contracture |
OMIM:620327 |
| Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Progressive psychomotor deteriorat... |
OMIM:268800 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Rickets, Recurrent fractures |
OMIM:268315 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Progressive neurologic deterioration, Splenomegaly, M... |
OMIM:219800 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Akinesia, Tremor, Splenomegaly, Keratitis, Myocarditis, Congestive he... |
ORPHA:3385 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Femoral hernia, Osteomalacia, Scarring, Hiatus ... |
ORPHA:198 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Dilat... |
OMIM:253800 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Long fingers, Contractur... |
OMIM:617527 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f... |
ORPHA:521426 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... |
ORPHA:3337 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Tremor, Irritability, Large hands, Failure to thrive, Hypoasparagin... |
OMIM:615574 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Small for gestational age, Increased mean platelet volume, Avascular necros... |
OMIM:222470 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly |
ORPHA:309155 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... |
ORPHA:79255 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Broad-based gait, Exaggerated startle response, Decreased serum iron, I... |
ORPHA:438213 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal distal phalanx morphology of finger, Osteomal... |
ORPHA:2636 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... |
ORPHA:447 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Inguinal hernia, Small for gestational age, Increased mean platelet volume,... |
ORPHA:84064 |
| Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Osteomalacia, Transient ischemic attack, Left ventricular systolic ... |
ORPHA:51608 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irritability |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... |
OMIM:619522 |
