Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
Optic Atrophy 2 |
|
Dysdiadochokinesis, Babinski sign, Optic atrophy, Tremor, Absent Achilles reflex |
OMIM:311050 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe... |
OMIM:615048 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... |
ORPHA:94090 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pes cavus, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb m... |
ORPHA:94124 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... |
OMIM:208920 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
Pseudohypoparathyroidism, Type Ib |
|
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal |
OMIM:603233 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... |
ORPHA:93323 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Metaphyseal chondrodysplasia |
OMIM:300660 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... |
ORPHA:64753 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... |
ORPHA:2760 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Pes cavus, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology, Mildly elevated creatine kinase |
OMIM:614369 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Pes cavus, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis |
OMIM:309560 |
Alg6-Cdg |
|
Ataxia, Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-cone dystrop... |
ORPHA:79320 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... |
OMIM:267700 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... |
ORPHA:79299 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Glutathione Synthetase Deficiency |
|
Ataxia, Intention tremor, Pigmentary retinopathy, Hemolytic anemia, Neutropenia, Spastic tetrapar... |
OMIM:266130 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Hyper... |
OMIM:277410 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... |
ORPHA:86839 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... |
OMIM:616959 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus... |
OMIM:128230 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Hypomethioninemia, Syndact... |
ORPHA:2169 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... |
OMIM:612126 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... |
OMIM:619073 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Retinal degener... |
OMIM:604290 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinal degeneration, Hydroxyprolinemia, Retinopathy, Short humerus, Lateral femoral bowing, Hype... |
OMIM:239000 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... |
ORPHA:216873 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Papilledema, Abnormality of the medullary cavity of the long bones, Thickened corte... |
OMIM:127000 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Retinal degeneration, Macular degeneration,... |
ORPHA:48818 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... |
OMIM:103580 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe, Trem... |
OMIM:618387 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hy... |
ORPHA:94089 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Micrognathia, Macrocytic anemia, ... |
OMIM:612561 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Hemophagocytosis, S... |
OMIM:603553 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... |
OMIM:270500 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pancytopenia, Leukemia, Incr... |
ORPHA:811 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... |
OMIM:241410 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus, Bradykinesi... |
OMIM:260300 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... |
ORPHA:36913 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Myopathy, Spheroid Body |
|
Broad-based gait, Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Abse... |
OMIM:182920 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia,... |
ORPHA:1667 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal |
OMIM:612462 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... |
OMIM:210000 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Pes cavus, Babinski sign, Myoclonus, Frequent falls, Tremor, Gait ataxia, Spasticity, Fas... |
OMIM:607317 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... |
OMIM:159550 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Pes cavus, Babinski sign, Spastic dysarthria, Spastic pa... |
ORPHA:251282 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Extrapyramidal muscular rigidity, Oculogyric crisis, ... |
ORPHA:94093 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... |
OMIM:213600 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus, Hypoglycemia, Unsteady gait, Anemia |
OMIM:610090 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Short distal phalanx of finger, Renal hypophosphatemia |
OMIM:241519 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... |
OMIM:164500 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... |
ORPHA:2070 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Loss of ambulation, Pes cavus, Elevated circulating creatine kinase concentration, Myoclo... |
OMIM:614018 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... |
OMIM:615924 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... |
OMIM:101800 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Myoclonic spasms, Short ... |
ORPHA:79444 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Pseudohypoparathyroidism Type 1A |
|
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Myoclonic spasms, Short ... |
ORPHA:79443 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, P... |
ORPHA:93325 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... |
OMIM:613280 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Flared iliac wing, Splenomegaly, Metaphyseal widening, Leukopenia, Chorioretin... |
OMIM:617303 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... |
ORPHA:2298 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Hemiparesis, Tremor, Elevat... |
OMIM:614307 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:600081 |
Chronic Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... |
ORPHA:529799 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Abetalipoproteinemia |
|
Ataxia, Babinski sign, Reticulocytosis, Hypopigmentation of the fundus, Broad-based gait, Abnorma... |
ORPHA:14 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Triphalangeal thumb, Neutropenia, Short thumb |
OMIM:612562 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemi... |
OMIM:608104 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, Retinopathy, Talipes, Short m... |
ORPHA:2611 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Small hand, Ankle clonus, Abnormal pyramidal sign, Tremor, Short foot, ... |
OMIM:617435 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Rod-cone dystrophy, Dysmetria, Pes cavus, Retinal dystrophy, Tremor, Elevated levels of p... |
OMIM:614867 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypoalbuminemia |
ORPHA:84090 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Spasticity... |
ORPHA:33445 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... |
OMIM:226300 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Hyporeflexia of lower limbs, Rigidity, Tre... |
ORPHA:98763 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot |
ORPHA:2323 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Limb ataxia, Dysmetria, Pes cavus, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoor... |
OMIM:213200 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Pes cavus, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia |
OMIM:261630 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Autoimmune... |
ORPHA:444463 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... |
ORPHA:90117 |
Slc35A2-Cdg |
|
Inability to walk, Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, A... |
ORPHA:356961 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Dystonia |
OMIM:616113 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Talipes equinovarus, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:241530 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Absent thumb, Persistence of hemoglobin F, Microg... |
ORPHA:124 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Incoordination |
OMIM:614947 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Pes cavus, Gait disturbance, Tremor, Difficulty walking, ... |
ORPHA:101077 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Lower limb hypertonia, Chorioretinal atrophy, Hepatosplenomegaly, Spastic diplegia, H... |
OMIM:619487 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Pes cavus, Babinski sign, Hammertoe, Optic atrophy, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:264700 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Pes cavus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Pes cavus, Elevated circulating creatine kinase concentration, Optic atrophy, Difficulty walking,... |
OMIM:251900 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Micrognathia, Hypoglycemia, Increased serum iron |
ORPHA:446 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anem... |
ORPHA:713 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Pes c... |
ORPHA:96 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... |
ORPHA:210128 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... |
OMIM:277900 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Small hand, Hand apraxia, Pill-rolling tremor, Stereotypic... |
ORPHA:3095 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anem... |
ORPHA:289916 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia... |
OMIM:616730 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypertonia, Myoclonus, Hypoargininemia, Abnormal cir... |
ORPHA:79096 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Cystinosis |
|
Motor stereotypy, Hypophosphatemia, Hypokalemia, Retinopathy, Abnormal pyramidal sign, Gait distu... |
ORPHA:213 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Micrognathia, Optic nerve hypoplasia, Proximal placement of th... |
ORPHA:261250 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Cortical myoclonus, Optic atrophy, Writer's cramp, Hyperphosphatemia |
ORPHA:428 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Leukocyto... |
OMIM:615673 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... |
OMIM:261640 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Small hand, Dysdiadochokinesis, Truncal ataxia, Tremor, Short foot, Short palm |
OMIM:610185 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Hsd10 Mitochondrial Disease |
|
Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic atrophy, Hypoglycem... |
OMIM:300438 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:277440 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Cone... |
ORPHA:280651 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... |
OMIM:619405 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Pes cavus, Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
Alg12-Cdg |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Micrognathia, Overlapping fingers, Retinal d... |
ORPHA:79324 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... |
OMIM:606159 |
Orofaciodigital Syndrome Ix |
|
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Myoclonus, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypoalbuminemia, Spa... |
OMIM:619055 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum |
OMIM:618913 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... |
ORPHA:3124 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypertonia, Ataxia, Lymphopenia, Abnormal central motor function, Spastic paraparesis, Cerebral p... |
ORPHA:760 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short ribs, Micrognathia, ... |
OMIM:156400 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Ataxia, Splenomegaly, Small hand, Micrognathia, Retinopathy, Elevated ... |
OMIM:608799 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:300554 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Myoclonus, Rigidity, Athetosis, Optic atrophy, Hypoglycemia, Gait disturbance |
OMIM:618241 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Abnormality of fi... |
ORPHA:352540 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Pes cavus, Abnormal pyramidal sign, Myoclonus, Tremor |
OMIM:612016 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia |
OMIM:254900 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... |
OMIM:612716 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Genu varum, Gait disturbance, Genu ... |
ORPHA:93160 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Hypoglycemia, Hypoalbuminemia, Spasticity, Hypera... |
OMIM:618329 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Waddling gait, Increased circulat... |
ORPHA:157215 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Laryngeal... |
ORPHA:99 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Rod-cone dystrophy, Dysmetria, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tre... |
OMIM:212065 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia, Clubbing |
OMIM:174900 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar keratoderma, Decreased ... |
OMIM:242150 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Abnormal hip bone morphology |
ORPHA:457059 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Pes cavus, Ataxia |
ORPHA:101075 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Pes cavus, Optic atrophy, Tremor, Gait disturbance |
ORPHA:99014 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... |
ORPHA:391417 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... |
ORPHA:36234 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Pes cavus, Babinski sign, Frequent falls, Trem... |
OMIM:302800 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... |
ORPHA:88673 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... |
ORPHA:1106 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Pes cavus, Spasticity, Ataxia |
OMIM:278780 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Pes cavus, Truncal ataxia, Gait disturbance, Tremor, Difficul... |
ORPHA:98764 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:300009 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia, Diabete... |
OMIM:598500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Insulin resistance, Myoclonus, Abnormal pyramidal sign, Tetraparesis, H... |
ORPHA:363400 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ... |
OMIM:612953 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Talipes cavus equinova... |
ORPHA:139485 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Small hand, Micrognathia, Pes cavus, Babinski sign, Parkins... |
OMIM:300055 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Pes cavus, Ataxia |
ORPHA:101078 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Gait disturbance, Tremor, Type I diabetes mellitus, Anemia |
ORPHA:1192 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Chorea, Thrombocytopenia |
OMIM:301080 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypertonia, Ataxia, Rod-cone dystrophy, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tre... |
OMIM:617710 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Talipes equinovarus, Elevated circula... |
OMIM:619743 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Clubbing |
OMIM:614441 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thro... |
ORPHA:466650 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Talipes equinovarus, Slender finger, Micrognathia, Pes cavus, Camptodactyly, Optic atroph... |
OMIM:251300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Myoclonus, Hem... |
OMIM:618278 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increase... |
OMIM:613179 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Clinodactyly of the 5th finger, Retinopathy, Pes cavus, Optic atrophy, Tremor, Choreoathe... |
OMIM:619422 |
Ataxia-Telangiectasia |
|
Ataxia, Type II diabetes mellitus, Lymphopenia, Gait disturbance, Tremor, Spasticity, Diabetes me... |
ORPHA:100 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Ataxia, Limited mobility of proximal interphalangeal joint, Pigmentary reti... |
OMIM:222300 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Pedal edema, Hypoalbuminemia, Hypercho... |
ORPHA:86816 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Abnormality of the calf musculature, Limitation of movement at ankles, Leukocytosis, Absent patel... |
ORPHA:206594 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Hemiatrophy, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Arachnodactyly, Pes cavus, Myoclonus, Syndactyly, Tremor, G... |
OMIM:619092 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormality of the lower limb |
OMIM:193100 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Pedal edema, Lymphopenia |
OMIM:152800 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... |
ORPHA:340 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ataxia-Telangiectasia |
|
Glucose intolerance, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Eleva... |
OMIM:208900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Leukopenia, Hepatosplenomegaly, Optic atr... |
ORPHA:505248 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... |
ORPHA:1988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy |
OMIM:619473 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... |
OMIM:233910 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Spasticity, Hyperammonemia |
ORPHA:6 |
Cystathioninuria |
|
Tremor, Cystathioninemia, Talipes equinovarus |
ORPHA:212 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Hypertonia, Dystonia, Neutropenia |
OMIM:617248 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Babinski sign, Large knee, Tremor, Spastic paraplegia, Gait disturbance, Abnormalit... |
ORPHA:83629 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Talipes valgus, Tremor, Pes planus, Incoordin... |
ORPHA:36387 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations |
OMIM:159950 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Retinal degeneration, Abnormality of extrapyramidal motor function, Babinski sign, Optic ... |
OMIM:234200 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria, Macrocytic anemia |
OMIM:615578 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Fasciculations, Elevated circulating creatine kinase concentration, Tremor |
OMIM:313200 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Pes cavus, Elevated circulating creatine kina... |
OMIM:614298 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Optic atrophy, Tremor, Dystonia |
ORPHA:329284 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Hyperparathyroidism, Neonatal Severe |
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Metaphyseal irregularity, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Immunodeficiency 76 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... |
ORPHA:89842 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Overlapping fingers, Congenital thrombocytopenia, Radioulnar synostosis, Neutropenia, Anemia, Thr... |
OMIM:616738 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Eosinophilia, Lymphopenia |
ORPHA:2582 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Transcobalamin Deficiency |
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Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Opsismodysplasia |
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Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Hypoplasti... |
OMIM:258480 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Thrombocytopenia, Lymphopenia, Chorea |
OMIM:616744 |
Atelosteogenesis Type Iii |
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Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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