| Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
| Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:612703 |
| Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... |
OMIM:208920 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... |
OMIM:614561 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypertonia, Hypoproteinemia, Tremor, Cataract, Aggressive behavior |
OMIM:608093 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Spastic paraparesis |
OMIM:312910 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
OMIM:607250 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... |
ORPHA:64753 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:615048 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... |
OMIM:617284 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... |
ORPHA:401901 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ... |
OMIM:617542 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... |
ORPHA:216873 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria |
OMIM:615938 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
ORPHA:94124 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Mental deterioration, Dysdiadochokinesi... |
OMIM:213600 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia, Cataract |
ORPHA:1766 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Memory... |
OMIM:614018 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality o... |
OMIM:615362 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cataract, Limb ataxia |
OMIM:617133 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Irritability, Hypop... |
OMIM:267700 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Cataract |
ORPHA:2815 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, M... |
ORPHA:247585 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceride... |
OMIM:615924 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Stillbirth, Abnormal hair morphology |
OMIM:152800 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Hyperphenyl... |
OMIM:261630 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract |
ORPHA:254704 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait |
OMIM:182920 |
| Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... |
OMIM:615768 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Dementia |
OMIM:615889 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Urocanase Deficiency |
|
Ataxia, Fair hair, Blue irides, Tremor, Aggressive behavior |
OMIM:276880 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Cataract, Lower limb spasticity |
ORPHA:401830 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Memory impairment, Sp... |
ORPHA:251282 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Hypoalbuminemia |
OMIM:618805 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Mental deterioration, Spastic diplegia, Cognitive impairment, Tre... |
ORPHA:3124 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
| Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... |
OMIM:618387 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Cataract, Spasticity, Irritability |
OMIM:617393 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Head tremor, Memory imp... |
ORPHA:101109 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional lability, Dyst... |
OMIM:128235 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Irritability, Hypop... |
OMIM:603553 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Upper limb spasticity, Cognitive impairment, Babinski sign, Spastic paraplegia, Limb dysmetria, A... |
OMIM:270800 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... |
OMIM:606159 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Progressive neurologic deterioration, T... |
OMIM:261640 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spasticity, Cata... |
OMIM:614307 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Hypoproteinemia |
ORPHA:1116 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Ataxia, Dysmetria, Tip-toe gait, Babinski sign, Spastic paraplegia, Frequent falls, Difficulty wa... |
OMIM:609195 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Abnormal a... |
ORPHA:300570 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Cataract, Spasticity |
OMIM:278780 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... |
OMIM:604326 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance, Cataract, Low... |
OMIM:617404 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Aceruloplasmine... |
OMIM:604290 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Reduced haptoglobin level, Dystonia, Irritability |
OMIM:612126 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... |
ORPHA:240085 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonus, Babinski sign, Mental det... |
OMIM:614409 |
| Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Hypermanganesemia With Dystonia 2 |
|
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Opisthotonus, Elevated circu... |
OMIM:617013 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... |
OMIM:617145 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, Ga... |
ORPHA:98763 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hypoproteinemia, Cogniti... |
ORPHA:167 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, ... |
OMIM:242150 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... |
ORPHA:210128 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Classic Phenylketonuria |
|
Hemiplegia, Hypertonia, Self-injurious behavior, Mental deterioration, Hypopigmentation of hair, ... |
ORPHA:79254 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Ga... |
OMIM:618093 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Developmental cataract, Tremor |
ORPHA:1368 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Aggressive behavior... |
OMIM:612716 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Cognitive impairment, Pill-rolling tremor, Limb hypertonia, Abn... |
OMIM:615528 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, C... |
OMIM:224050 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia, Memory impairment |
ORPHA:79234 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Dystonia, Irritability, Dementia |
OMIM:606438 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... |
OMIM:607346 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... |
ORPHA:98764 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination |
OMIM:614947 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... |
OMIM:619405 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... |
ORPHA:48818 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Babinski sig... |
OMIM:617225 |
| Parkinson Disease 14, Autosomal Recessive |
|
Mental deterioration, Tremor, Spasticity, Loss of ambulation, Axial dystonia, Resting tremor, Han... |
OMIM:612953 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Truncal a... |
ORPHA:320391 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia |
ORPHA:79320 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Loss of ambulation, Babinski sign, Progressive neurologic deterioration, Spastic dysarthria, Deve... |
ORPHA:447757 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... |
ORPHA:71517 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Mental deteriora... |
ORPHA:99750 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... |
OMIM:233910 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Developmental And Epileptic Encephalopathy 35 |
|
Limb tremor, Cataract, Irritability |
OMIM:616647 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... |
ORPHA:79263 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Dementia |
OMIM:301840 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Mental deterioration, Myoclonus, Limb myoclonus, Frequent falls, T... |
ORPHA:2590 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... |
OMIM:613280 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... |
OMIM:164500 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia, Dementia |
OMIM:605909 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Anxiety, Dystonia |
OMIM:619651 |
| Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Hypoalbuminemia |
OMIM:618347 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Myoclonus, Anxiety, Parkinsonism, Cataract, Psychomotor deterioration, Abnorm... |
OMIM:204200 |
| Omenn Syndrome |
|
Hypoproteinemia, Alopecia |
OMIM:603554 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Acute Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology,... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology,... |
ORPHA:529808 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Abnormal pyramidal sign, Par... |
OMIM:612067 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
| Dopa-Responsive Dystonia |
|
Leg dystonia, Agoraphobia, Inability to walk, Irritability, Poor coordination, Abnormality of ext... |
ORPHA:255 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Cataract, Sp... |
OMIM:616586 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Elevated circulating creatine kinase concentration, Inability to walk, Limb fasciculations |
ORPHA:90117 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract, Chorea |
OMIM:601372 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Dysdiadochokinesis, B... |
OMIM:615157 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
| Nephrotic Syndrome, Type 14 |
|
Mental deterioration, Hypertriglyceridemia, Ataxia, Hypoalbuminemia |
OMIM:617575 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Frontal upsweep of hair, Tremor, Aggressive behavior, Spasticity |
OMIM:300983 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, S... |
ORPHA:3077 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Cataract, Hypocalcemic seizures |
OMIM:146200 |
| Neuroferritinopathy |
|
Leg dystonia, Decreased circulating ferritin concentration, Blepharospasm, Bradykinesia, Resting ... |
ORPHA:157846 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... |
ORPHA:101030 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Mental deterioration, Babinski sign, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intent... |
ORPHA:284289 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotyp... |
ORPHA:3095 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations, Dem... |
OMIM:159950 |
| 4H Leukodystrophy |
|
Ataxia, Dysmetria, Mental deterioration, Dysdiadochokinesis, Tremor, Cataract, Progressive gait a... |
ORPHA:289494 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Cognitive impairment |
OMIM:616668 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... |
ORPHA:240071 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Spinocerebellar Ataxia 42 |
|
Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spas... |
OMIM:616795 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Truncal ataxia, Chorea, Abnormal circulating creatine kinase concentration, Difficulty walking, C... |
ORPHA:369840 |
| Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... |
OMIM:277900 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized hirsutism, Ataxia, Progressive psychomotor deterioration, Cognitive impairment, Myocl... |
ORPHA:363400 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Dystonia |
OMIM:617557 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Cataract 11, Multiple Types |
|
Hypertonia, Cataract, Chorea |
OMIM:610623 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Mental deterioration, Babinski sign, Elevated... |
OMIM:614298 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking |
ORPHA:101077 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Cognitive impairment, Rigidity, Gait disturbance, Tremor, Dementia |
OMIM:603472 |
| Phenylketonuria |
|
Fair hair, Blue irides, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Cataract, Hyper... |
OMIM:261600 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Pseudobulbar paralysis, Babinski sign, Gait disturbance, Cataract, Lower limb spasticity, Dystonia |
ORPHA:101006 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Hypopigmentation of hair, Rigidity, Tremor, Spasticity, Premature graying of ... |
ORPHA:33445 |
| Galactosemia |
|
Gait imbalance, Ataxia, Action tremor, Cognitive impairment, Increased level of galactitol in pla... |
ORPHA:352 |
| Johanson-Blizzard Syndrome |
|
Abnormal hair pattern, Hypoproteinemia, Alopecia |
ORPHA:2315 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... |
ORPHA:98773 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Cognitive impairment, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... |
ORPHA:352649 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... |
OMIM:619738 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
| Pierson Syndrome |
|
Hypoproteinemia, Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of t... |
OMIM:609049 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia,... |
ORPHA:329284 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hypoproteinemia, Nail dystrophy |
OMIM:615895 |
| Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Mental deteriora... |
ORPHA:228360 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Lower limb hypertonia, Self-mutilation, Spastic diplegia, Hypoalbuminemia, Spasticity... |
OMIM:619487 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Cognitive impairment, Progressive psychomotor deterioration, Tremor, Gait atax... |
ORPHA:1170 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
| Abetalipoproteinemia |
|
Broad-based gait, Corneal ulceration, Abnormal circulating apolipoprotein concentration, Ataxia, ... |
ORPHA:14 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... |
ORPHA:3198 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Cognitive impairment, Inten... |
OMIM:607454 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Baralle-Macken Syndrome |
|
Hirsutism, Inability to walk, Cataract, Spasticity, Dystonia |
OMIM:619255 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Microcornea, Long eyelashes, Cataract |
ORPHA:48431 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Mental deterioration, Dysdiadochokinesis, ... |
ORPHA:96 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... |
ORPHA:206443 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Galloway-Mowat Syndrome 1 |
|
Ataxia, Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Hypoalbuminemia, S... |
OMIM:251300 |
| Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... |
ORPHA:101 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Mental deterioration, Elevated circulating creatine kinase concentration, Memory impairme... |
ORPHA:79095 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Memory impairment, ... |
OMIM:137440 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Anxiety, Parkinsonism, Progressive neurologic deterioration, Frequent falls, Tremor, Difficulty w... |
ORPHA:329478 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Inability to walk, Apathy, Cognitive impairment, Intention tremor, Ment... |
OMIM:312080 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Muscle-Eye-Brain Disease |
|
Hypertonia, Hemiplegia/hemiparesis, Cognitive impairment, Elevated circulating creatine kinase co... |
ORPHA:588 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis |
ORPHA:391417 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration |
OMIM:614482 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Elevated circulating creatine kinase concentration, Abnormal circula... |
ORPHA:88618 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| 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 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Ataxia, Dysmetria, Intention tremor, Babinski sign, Cataract, Spasticity |
OMIM:612674 |
| Sneddon Syndrome |
|
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia |
ORPHA:820 |
| Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Spastic paraparesis, Dysmetria, Cognitive impairment, Cataract, Spasticity |
OMIM:614877 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
| Usher Syndrome Type 3 |
|
Ataxia, Anxiety, Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... |
OMIM:302800 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Myoclonus, Panic attack, Head tremor, Craniofacial dystonia, Writer'... |
ORPHA:420492 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Anxiety, Decreased serum iron, Decreased plasma carn... |
ORPHA:89842 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Myoclonic spasms, Hypocalcemic tetany, H... |
ORPHA:36913 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity |
OMIM:618718 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Hirsutism, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor |
OMIM:610185 |
| Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Rigidity, Parkinsonism, Tremor, Dementia |
OMIM:260540 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Abnor... |
ORPHA:309246 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Ataxia, Inability to walk, Astigmatism, Tremor |
OMIM:619556 |
| Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Elevated levels of phytanic acid, Cataract |
OMIM:614879 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Myoclonus, Elevated circulating creatine kinase concentration, Neonatal death, Hypoalbuminemia, S... |
OMIM:619055 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Dysmetria, Intention tremor, Tremor, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... |
OMIM:183090 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Cataract, Dystonia, Hypertonia |
OMIM:617248 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hypertonia, Ataxia, Inability to walk, Cataract, Spasticity, Hyperkalemia |
OMIM:608885 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Inability to walk, Coarse hair, Long eyelashes, Synophrys, Hypo... |
OMIM:617303 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Perry Syndrome |
|
Akinesia, Frontotemporal dementia, Bradykinesia, Apathy, Anxiety, Rigidity, Parkinsonism, Tremor,... |
OMIM:168605 |
| Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Inability to walk, Mental deterioration, Ankle clonus, Babinski sign, Abn... |
ORPHA:52368 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Park... |
ORPHA:1578 |
| Classic Galactosemia |
|
Gait imbalance, Ataxia, Action tremor, Clumsiness, Mental deterioration, Anxiety, Gait disturbanc... |
ORPHA:79239 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... |
OMIM:616212 |
| Tay-Sachs Disease |
|
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Incre... |
ORPHA:845 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Tremor, Ataxia, Gait disturbance |
ORPHA:99014 |
| Hepatoportal Sclerosis |
|
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
