| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Nephrotic syndrome, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Abnormal ... |
ORPHA:401835 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... |
OMIM:619902 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp |
OMIM:614860 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Urocanic aciduria, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Tremor, Babinski sign, L... |
OMIM:600363 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Dystonia |
OMIM:615924 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Fasciculations |
OMIM:615048 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... |
OMIM:213600 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Elevated urinary 7-biopterin level, Hypertonia, Tremor |
OMIM:264070 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
| Fibular Hemimelia |
|
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Structural foot d... |
ORPHA:93323 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... |
ORPHA:251282 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia |
OMIM:128235 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... |
ORPHA:521406 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... |
OMIM:615528 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Urocanic aciduria, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Aspiration pneumonia, Progressive ext... |
ORPHA:53351 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... |
OMIM:617145 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... |
OMIM:300423 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ... |
OMIM:616719 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis |
OMIM:612126 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Urinary urgency |
OMIM:605909 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Dystonia, Hem... |
OMIM:615010 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence... |
OMIM:618093 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Eyelid myoclonus, Tremor, Clums... |
ORPHA:2590 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... |
ORPHA:397946 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:604387 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Pneumothorax, Hypertonia, At... |
OMIM:619738 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Tremor, Pa... |
OMIM:618049 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Broad phalanx, ... |
ORPHA:56304 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance |
ORPHA:276435 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Decreased skull ossifica... |
OMIM:616897 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Clumsiness, Babins... |
ORPHA:284324 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... |
ORPHA:99750 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance |
OMIM:618090 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... |
ORPHA:98764 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait |
OMIM:616269 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Spinocerebellar Ataxia 42 |
|
Spastic gait, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Urinary inc... |
OMIM:616795 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo... |
ORPHA:79106 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... |
OMIM:615415 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... |
ORPHA:71517 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Spastic tetraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parki... |
OMIM:617225 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... |
OMIM:619911 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance |
ORPHA:101077 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia |
OMIM:618387 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... |
OMIM:208540 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... |
OMIM:618877 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... |
ORPHA:240103 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Omphalocele, Short femur |
OMIM:601357 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... |
OMIM:613280 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Aspiration pneumonia, Inability to walk, Limb fasciculations, ... |
ORPHA:90117 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... |
ORPHA:94068 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Dentinogenesis imperfecta, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Inguina... |
OMIM:613848 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Spastic paraparesis, Abnormal urinary acylglycine profile... |
ORPHA:391417 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Lef... |
ORPHA:93952 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Recurrent respiratory infections, F... |
OMIM:159950 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Tremor, Rigidity, Hypertonia, Ataxia, Recurrent respiratory infections |
ORPHA:33445 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Hypoglycemia, Short humerus, Short ribs, ... |
OMIM:607143 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Cerebriform connective tissue nevus, Hypertrophy of skin of soles, Facia... |
OMIM:176920 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... |
OMIM:609270 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At... |
ORPHA:79263 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, ... |
OMIM:617303 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... |
OMIM:606693 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... |
OMIM:617013 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Postural tremor, Pleural effusion, Renal insuffi... |
OMIM:254900 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... |
OMIM:108720 |
| Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
| Glutathionuria |
|
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis |
OMIM:231950 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... |
ORPHA:98773 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia |
OMIM:617810 |
| Dystonia 34, Myoclonic |
|
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia |
OMIM:619724 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
| Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Phenylketonuria |
|
Phenylalaninuria, Lower limb spasticity, Tremor, Ataxia |
ORPHA:716 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Osteosclerosis of the ulna,... |
OMIM:602080 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Urinary bladder sphincter dysfunction, Fasciculations, Postural tremor, Limb ataxia, ... |
OMIM:183090 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Upper limb undergrowth, Abnormal cortical bone morph... |
ORPHA:166277 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... |
ORPHA:464329 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Babinski sign, ... |
OMIM:302800 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
| Atelosteogenesis Type I |
|
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim... |
ORPHA:1190 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Tremor, Proteinuria, Gait disturbance, Hypertonia, Anemia, Nephrotic syndrome |
ORPHA:1192 |
| Caffey Disease |
|
Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos... |
ORPHA:1310 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Spasti... |
ORPHA:137898 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular... |
ORPHA:225147 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Abnormality of the liver, Tremor, Biliary tract abnormality |
ORPHA:79234 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... |
ORPHA:1860 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Abnormality of the liver, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Gait disturbance, Tremor, Ataxia |
ORPHA:99014 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Gait disturbance, Ataxia, Urinary incontinence |
OMIM:603472 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Pes planus,... |
OMIM:620494 |
| Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Hepato... |
ORPHA:79128 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Inguinal hernia, ... |
OMIM:618188 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... |
OMIM:617435 |
| Atypical Rett Syndrome |
|
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t... |
ORPHA:3095 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... |
ORPHA:96 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Ulnar bowing, Short r... |
OMIM:100800 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abnormal enchondral ossific... |
ORPHA:2635 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Urinary retention, Pseudobulbar paralysis, Tremor, Babinski sign,... |
OMIM:616586 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... |
ORPHA:254881 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... |
OMIM:261640 |
| Saccharopinuria |
|
Hyperlysinuria, Gait ataxia, Tremor, Cystinuria, Citrullinuria, Spastic diplegia |
ORPHA:3124 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... |
ORPHA:240071 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Hepatic steatosis, Myoclonus, G... |
ORPHA:363400 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... |
OMIM:233910 |
| Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... |
OMIM:211350 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... |
OMIM:619725 |
| Primary Progressive Freezing Gait |
|
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... |
ORPHA:75567 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia |
ORPHA:542310 |
| Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Generalized dystonia, Aspiration pneumonia, Inability to walk, Tremor, Ankle clon... |
ORPHA:52368 |
| Pyle Disease |
|
Absent paranasal sinuses, Genu valgum, Thin bony cortex, Metaphyseal dysplasia, Metaphyseal widen... |
OMIM:265900 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Impaire... |
OMIM:300623 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Typhoid |
|
Splenomegaly, Tremor, Hypertonia, Ataxia, Hepatomegaly, Abnormal pulmonary interstitial morphology |
ORPHA:99745 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic... |
OMIM:128100 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat... |
OMIM:200995 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica... |
ORPHA:2204 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... |
OMIM:277170 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Hydronephrosis, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyel... |
OMIM:618060 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... |
OMIM:607483 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins... |
OMIM:300055 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Steppage gait, Gait disturbance, Tremor |
OMIM:118300 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... |
OMIM:312080 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Dystonia, Loss of ambulation, Parkinsonism, ... |
OMIM:168601 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity |
ORPHA:3077 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... |
OMIM:208920 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Sialidosis Type 2 |
|
Nephropathy, Splenomegaly, Tremor, Ataxia, Hepatomegaly |
ORPHA:87876 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, Loss of ambulation... |
ORPHA:206443 |
| Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremor, Abnormality of extrapyramidal mot... |
OMIM:615673 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine... |
OMIM:168600 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy... |
ORPHA:75508 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, Recurrent urina... |
OMIM:613179 |
| Peroxisome Biogenesis Disorder 5B |
|
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Thalidomide Embryopathy |
|
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... |
ORPHA:3312 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidn... |
OMIM:608022 |
| Ataxia-Telangiectasia |
|
Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tremor, Gait disturbance, Ataxia, Recu... |
ORPHA:100 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu... |
ORPHA:449395 |
| 4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
| Ck Syndrome |
|
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology |
OMIM:300831 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F... |
OMIM:600081 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... |
OMIM:137440 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis... |
OMIM:134780 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... |
OMIM:616505 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Gait disturbance, Micropenis, Pulmonary fibrosis, Upper limb spas... |
ORPHA:457240 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... |
OMIM:619638 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Dysmetria, Tremor, Macrocytic anemia |
OMIM:615578 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges... |
ORPHA:2484 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Myoclonus, Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macr... |
ORPHA:251004 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia |
ORPHA:529665 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Horseshoe kidney, Inability to walk, Tremor, Dystonia, Choreoathetosis |
OMIM:617664 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... |
ORPHA:442835 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... |
OMIM:264700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolytic anemia, Decreased ... |
ORPHA:713 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... |
OMIM:210710 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... |
OMIM:277440 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bon... |
OMIM:619795 |
| Aceruloplasminemia |
|
Ataxia, Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Chorea, Limb ataxia, ... |
ORPHA:48818 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hypoglycemia, Short humerus, Polydactyly, Flexion contracture, Short femur |
ORPHA:17 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Panc... |
OMIM:276700 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia |
OMIM:314390 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Tremor, Lymphadenopathy... |
ORPHA:3162 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... |
ORPHA:2097 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... |
ORPHA:282166 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Aspiration pneumonia, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, A... |
ORPHA:99027 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal insufficiency, Lipid accumulation in hepatocytes, Cardiomegaly, Hydronephrosis, Hepatic cal... |
OMIM:608836 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Hypophosphatemic ... |
OMIM:241530 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance |
ORPHA:83629 |
| Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... |
OMIM:616145 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... |
ORPHA:765 |
| Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Perry Syndrome |
|
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168605 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... |
OMIM:614298 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Inability to walk, Heparan sulfate excretion in urine, Hepatosplenom... |
ORPHA:505248 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ... |
OMIM:114000 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| H Syndrome |
|
Bronchiectasis, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney... |
ORPHA:168569 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Pancytopenia, Myoclonus, Tremor, Proteinuria, Loss of ambulat... |
OMIM:607426 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Pulmonary edema, C... |
OMIM:105210 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... |
OMIM:614381 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Congenital alveolar dysplasia, Scimitar anomaly, Partial anom... |
OMIM:608978 |
| Gorham-Stout Disease |
|
Osteopenia, Cortical irregularity, Abnormal femur morphology, Osteolysis involving bones of the u... |
ORPHA:73 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Abnormal cortical bone morpholo... |
ORPHA:1525 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Inability to walk, Lymphopenia, Decreased prop... |
OMIM:208900 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Agenesis of pulmonary vessels, Multilobulated spleen, Horseshoe kidney, Alveola... |
OMIM:601186 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, Osteomalacia, Fibular bo... |
OMIM:300009 |
| Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Micrognathia, Femoral bowing, Bowing of the long bones, Thin bony cortex, Gener... |
OMIM:617952 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Nipah Virus Disease |
|
Myoclonus, Tremor, Recurrent pharyngitis |
ORPHA:99825 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Polycythemia, Micronodular cirrhosis, Difficulty walking, Abnormality of the... |
ORPHA:309854 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fasciculations, Difficulty walking, Tremor, Parkinsonism, Urinary incontinence, Frequent falls |
ORPHA:329478 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Speech apraxia, Chorea, Inability to walk, Hepatic steatosis, Tremor, Hyperki... |
OMIM:615356 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Recurrent pneumonia, Spasticity, Leukopenia, Myoclonus, Hepatic steatosis, 3-Methylglutac... |
OMIM:616271 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Tay-Sachs Disease |
|
Decerebrate rigidity, Aspiration pneumonia, Incoordination, Laryngeal dystonia, Fasciculations, I... |
ORPHA:845 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary incontinence, Spasti... |
ORPHA:447753 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial hyperostosis, Umbilical hern... |
ORPHA:2710 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Small for gestational age, Clinodactyly, Slender long bone, Failure to thrive, ... |
OMIM:264090 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Short femur |
OMIM:617798 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic ilia, Increased subcutaneous truncal adipose tissue, Failure to thrive, C... |
ORPHA:3455 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia |
OMIM:250800 |
| 8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Congenital hip dislocation, Microretrognathia, Small for gestational age, Micro... |
ORPHA:508488 |
| Wolfram Syndrome 1 |
|
Hydroureter, Sideroblastic anemia, Tremor, Hydronephrosis, Neurogenic bladder, Megaloblastic anem... |
OMIM:222300 |
| Alg9-Cdg |
|
Periportal fibrosis, Hypoplasia of the bladder, Abnormal lung lobation, Abnormal renal artery mor... |
ORPHA:79328 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom... |
ORPHA:2839 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Spasticity, Splenomegaly, Macrocytic anemia, Cholecystitis, Tr... |
OMIM:615512 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Osteo... |
ORPHA:289157 |
| Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... |
ORPHA:646 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Neurogenic bladder, Ataxia |
OMIM:618527 |
| Mucolipidosis Ii Alpha/Beta |
|
Recurrent pneumonia, Tip-toe gait, Recurrent bronchitis, Splenomegaly, Cardiomegaly, Mucopolysacc... |
OMIM:252500 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Lower limb asymmetry, Osteomalacia, Cortical irregularity, Abnormal tibia morphology, Ab... |
ORPHA:249 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ... |
ORPHA:1454 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia |
ORPHA:683 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Cardiomegaly, Hypoplastic spleen |
OMIM:620642 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Micrognathia, Abnormal cortical bone morphology, Slender long bone |
ORPHA:1486 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Akinesia, Acanthocytosis, Tremor, Rigidity, Dystonia, Babinski sign, P... |
OMIM:234200 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket... |
ORPHA:289176 |
| Myopathy, Mitochondrial, And Ataxia |
|
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dy... |
OMIM:617675 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, ... |
OMIM:617053 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... |
ORPHA:79259 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Anemia, Ga... |
OMIM:214500 |
| Metachromatic Leukodystrophy |
|
Progressive spasticity, Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturba... |
ORPHA:512 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Renal agenesis, Polysplenia, Abdominal situs inversus, H... |
OMIM:306955 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Poor motor coordination, Chorea, Limb dystonia, Tremor... |
ORPHA:25 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Abnormal renal physiology, Reticulocytosis, Tremor, Proteinuri... |
OMIM:274150 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Tremor, Fasciculations |
ORPHA:99965 |
| Hyperlysinemia |
|
Poor motor coordination, Pulmonary artery hypoplasia, Hyperlysinuria, Recurrent pneumonia, Tip-to... |
ORPHA:2203 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradykinesia, Urinar... |
OMIM:146500 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system |
ORPHA:276280 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... |
ORPHA:199351 |
| Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Polycythemia, Microvesicular hepatic steatosis, Pulmonary e... |
OMIM:300855 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pes planus, Clinodact... |
OMIM:300990 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Absent patellar reflexes, Micromelia, Camptodactyly of finger, Elbow flexion contract... |
ORPHA:3206 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Scimitar anomaly, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, ... |
OMIM:618280 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Cardiomegaly, Pleural effusion, Enlarged kidney |
OMIM:261740 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Tremor, Ataxia |
OMIM:201100 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf... |
ORPHA:116 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... |
OMIM:601104 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Parkinsonism, Neutropenia, Ataxia, Jaundice, ... |
ORPHA:167 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Tarsal sclerosis, Small for gestational age, Failure to thrive, Shoul... |
ORPHA:404454 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Finger syndactyly, Cranial hyperostosis, Facial hyperostosis, Abnormal dental ... |
ORPHA:2658 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... |
OMIM:612716 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Tapered finger, Short humerus, Short femur |
OMIM:618367 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... |
ORPHA:500095 |
| Dent Disease |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, Osteomalacia, Sparse bon... |
ORPHA:1652 |
| Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skull ossification, Bowing of the... |
ORPHA:666 |
| Wilson Disease |
|
Limb dystonia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Increased urinary copper con... |
OMIM:277900 |
| Pearson Syndrome |
|
Ataxia, Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia,... |
ORPHA:699 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
| Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex, Coxa valga |
OMIM:230600 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the long bones, Tal... |
OMIM:249420 |
| Proteus Syndrome |
|
Pulmonary cyst, Long penis, Bronchogenic cyst, Thymus hyperplasia, Abnormal lung lobation, Neopla... |
ORPHA:744 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent respiratory infections, Enlarged kidney, Recurrent urinary tract inf... |
OMIM:615873 |
| Pachydermoperiostosis |
|
Small hand, Clubbing of toes, Palmoplantar keratoderma, Abnormal epiphysis morphology, Abnormal c... |
ORPHA:2796 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Abnormal lung ... |
OMIM:312870 |
| Weill-Marchesani Syndrome 2 |
|
Broad phalanges of the hand, Umbilical hernia, Elbow flexion contracture, Short finger, Brachydac... |
OMIM:608328 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Missing ribs, Aplasia/hypoplas... |
ORPHA:2769 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th... |
ORPHA:2636 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney |
ORPHA:508 |
| Spondyloocular Syndrome |
|
Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Pes... |
OMIM:605822 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Inguinal hernia, Thin bony c... |
OMIM:613658 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Long hallux, Talipes equinovarus, Thin bony cortex, Long fingers, Osteoporosis, Hyperextensibilit... |
OMIM:309583 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Large for gestational age, Micrognathia, Hypoplastic pelvis, Polyd... |
OMIM:612731 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Brachydactyly, Thin bony cortex, Broad metatarsal, Broad metacarpals |
OMIM:277600 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex... |
OMIM:619727 |
| Aspartylglucosaminuria |
|
Umbilical hernia, Abnormal cortical bone morphology, Inguinal hernia, Abnormal morphology of ulna... |
ORPHA:93 |
