| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:615411 |
| Sandhoff Disease, Adult Form |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... |
ORPHA:309169 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:614561 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... |
OMIM:208920 |
| Lissencephaly 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:607432 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... |
OMIM:619491 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... |
ORPHA:85292 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Neural tube defect |
OMIM:615041 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... |
ORPHA:401901 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Gait imbalance, Elevated circulating creatine kina... |
ORPHA:64753 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Mildly elevated creatine kinase, Tremor |
OMIM:614369 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Mental deterioration, Memory impairment, Depression, Athetosis, Bradykinesia, Chorea, Limb dysmet... |
OMIM:213600 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Ataxia, Oculomotor apraxia, Hypercholesterolemia, Cognitive impairment, Tetraple... |
OMIM:616267 |
| Microlissencephaly |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... |
ORPHA:1083 |
| Spastic Paraparesis And Deafness |
|
Cataract, Spastic paraparesis, Tremor |
OMIM:312910 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... |
OMIM:617542 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Astigmatism, Cranio... |
OMIM:617284 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia, Spastic dysarthria |
ORPHA:94124 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Hypertonia, Hypoproteinemia, Tremor |
OMIM:608093 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... |
ORPHA:247585 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Memory impairment, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase co... |
OMIM:614018 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos... |
OMIM:600638 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,... |
OMIM:267700 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... |
ORPHA:216873 |
| Dysequilibrium Syndrome |
|
Cataract, Gait disturbance, Cerebral palsy, Ataxia |
ORPHA:1766 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia |
ORPHA:352682 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cataract, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Lissencephaly 3 |
|
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... |
OMIM:611603 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Tremor, Gait ataxia, ... |
OMIM:615362 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Abnormal hair morphology, Stillbirth |
OMIM:152800 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sig... |
OMIM:615924 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Abnormal hair quantity, Chorioretinal coloboma |
ORPHA:1116 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia |
OMIM:264070 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... |
OMIM:261630 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... |
ORPHA:521406 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia, Neurogenic bladder, Pachygyria, Thin corpus callosum, Abnormality of the ... |
ORPHA:572013 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Spastic paraparesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia |
ORPHA:2815 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... |
OMIM:128235 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Spasticity, Depression, Elevated circulating phytanic acid concentration, Increased phy... |
OMIM:614307 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, ... |
ORPHA:101109 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... |
OMIM:615768 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsoni... |
ORPHA:314632 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration |
ORPHA:254704 |
| Migraine, Familial Hemiplegic, 1 |
|
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... |
OMIM:605407 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai... |
OMIM:128230 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Spastic dysarthria |
ORPHA:401830 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Corticobasal Syndrome |
|
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... |
ORPHA:454887 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Saccharopinuria |
|
Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnor... |
ORPHA:3124 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Memory impairment, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Sp... |
ORPHA:251282 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,... |
OMIM:603553 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... |
ORPHA:276435 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Axial dystonia, Dysmetria, Parkinsonism, Dementia, Dysdia... |
OMIM:604326 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Cataract, Broad-based gait |
OMIM:618805 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Emotional lability, ... |
OMIM:606159 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
| Phenylketonuria |
|
Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia, D... |
ORPHA:716 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, B... |
OMIM:611302 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park... |
OMIM:260300 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic paraplegia, Cataract, Abnormal circulating cholesterol concentration, Postural tremor, Li... |
OMIM:270800 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Aceruloplasminemia |
|
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:604290 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Steppage gait... |
OMIM:618387 |
| Spinocerebellar Ataxia 48 |
|
Mental deterioration, Depression, Chorea, Gait ataxia, Tremor, Irritability, Dysmetria, Babinski ... |
OMIM:618093 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... |
ORPHA:101110 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Abnormal thalamus morphology, Polymicrogyria, Type II lissencephaly... |
ORPHA:300570 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Reduced haptoglobin level, Irritability, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:616710 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Mental deterioration, Spastic paraplegia, Spastic gait, Cataract, Hand tremor, Head tremor, Limb ... |
OMIM:614409 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Classic Phenylketonuria |
|
Mental deterioration, Cataract, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, At... |
ORPHA:79254 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... |
OMIM:617013 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Mental deterioration, Memory impairment, Depression, Falls, Bradykinesia, Tremor, Rigidity, Parki... |
ORPHA:240085 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Mental deterioration, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Un... |
OMIM:254900 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... |
OMIM:615528 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Oculo... |
OMIM:617145 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Spasticity, Memory impairment, Unsteady gait |
OMIM:620312 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Chédiak-Higashi Syndrome |
|
Ataxia, Spastic paraplegia, Iris hypopigmentation, Increased circulating ferritin concentration, ... |
ORPHA:167 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... |
ORPHA:98763 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
| Acalvaria |
|
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... |
OMIM:604317 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Spasticity, Spastic paraparesis, Tip-toe gait, Elevated circulating phytanic acid conce... |
OMIM:614877 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Limb dystonia, Emotional lability, Gait ataxia, Craniofacial dystonia... |
ORPHA:71517 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Emotional lability, Tremor, Waddling gait |
OMIM:616269 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... |
OMIM:159950 |
| Cataract-Ataxia-Deafness Syndrome |
|
Developmental cataract, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Huntington Disease-Like 2 |
|
Memory impairment, Depression, Bradykinesia, Chorea, Action tremor, Irritability, Rigidity, Demen... |
OMIM:606438 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Cerebellar ataxia associate... |
OMIM:224050 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Bradykinesia, Postural tremo... |
OMIM:600116 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:612437 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... |
ORPHA:98764 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia |
OMIM:605909 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... |
OMIM:617916 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... |
ORPHA:210128 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Sparse hair, Alopecia, Keratoconus, Increased serum bile acid concentration, Con... |
OMIM:242150 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment, Tremor |
ORPHA:79234 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Parkinson Disease 14, Autosomal Recessive |
|
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... |
OMIM:612953 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Tip-toe gait, Elevated circulating creatine kinase concentration, Lower limb spasticity... |
OMIM:617404 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... |
ORPHA:240103 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Focal dystonia, Falls, Extrapyramidal muscular rigidity, Spe... |
ORPHA:99750 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cataract, Limb tremor, Irritability |
OMIM:616647 |
| Immunodeficiency 115 With Autoinflammation |
|
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... |
OMIM:620632 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Broad-based gait, Difficulty walking, Head tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:320391 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... |
OMIM:300423 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Tremor, Irritability, Rigidity, Parkinsonism, Hyperphenylalaninemia, Limb hypertoni... |
OMIM:261640 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, C... |
ORPHA:2590 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Short attention span, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, ... |
OMIM:619028 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia |
ORPHA:79320 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... |
OMIM:619405 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Aceruloplasminemia |
|
Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc... |
ORPHA:48818 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Myoclonus, Gait ataxia, Tremor, Dysmetria, Hyperalaninemia, Progressive neurologic de... |
ORPHA:254881 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Progressive neurologic deterioration, Spastic gait, Focal dystonia, Postural tremor, Upper motor ... |
ORPHA:447757 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Unsteady gait, Cognitive impairment... |
ORPHA:79263 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Mental deterioration, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Park... |
OMIM:617225 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Spinocerebellar Ataxia 7 |
|
Mental deterioration, Spasticity, Chorea, Tremor, Dysmetria, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Cataract 11, Multiple Types |
|
Cataract, Chorea, Developmental cataract, Hypertonia |
OMIM:610623 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... |
OMIM:612736 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... |
ORPHA:209335 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Increased total iron binding capacity, Bradykinesia, Tremor, Rigidity, Abnor... |
OMIM:613280 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor, Premature graying of hair |
ORPHA:66633 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Lissencephaly 5 |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... |
OMIM:615191 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... |
OMIM:618325 |
| Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... |
OMIM:616795 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, A... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, A... |
ORPHA:529799 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Gait distu... |
ORPHA:542310 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Mental deterioration, Spasticity, Tremor, Babinski sign, Steppage gait, Hypertonia |
OMIM:609260 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:620482 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal encephalocele, Abnormality... |
ORPHA:101030 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... |
ORPHA:157846 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Bradykinesia... |
ORPHA:391411 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, E... |
OMIM:614298 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Chvostek sign, Hypocalcemic seizures |
OMIM:146200 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Hirsutism, Ataxia, Truncal ... |
OMIM:610185 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Cataract, Fasciculations, Tortuosity of conjunctival vessels, Limb... |
ORPHA:284289 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsoni... |
OMIM:204200 |
| Caribbean Parkinsonism |
|
Bradykinesia, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia,... |
ORPHA:97355 |
| Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance |
ORPHA:101077 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance |
OMIM:618090 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration |
ORPHA:90117 |
| Spinocerebellar Ataxia 50 |
|
Memory impairment, Postural tremor, Chorea, Head tremor, Action tremor, Myoclonus, Apraxia, Ataxia |
OMIM:620158 |
| 4H Leukodystrophy |
|
Mental deterioration, Cataract, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, ... |
ORPHA:289494 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Gait disturbance, Hypertonia, Anterior synechiae of the anter... |
ORPHA:3214 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign |
OMIM:610245 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... |
ORPHA:3077 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Falls, Progressive extrapyramidal muscular rigidity, Bradyki... |
ORPHA:240071 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bradykinesia, Emotional ... |
OMIM:300055 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston... |
ORPHA:352649 |
| Hsd10 Disease |
|
Spastic paraparesis, Short attention span, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia,... |
ORPHA:391417 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... |
OMIM:616050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb fasciculation... |
OMIM:615157 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Hypertrichosis |
OMIM:235255 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Johanson-Blizzard Syndrome |
|
Abnormal hair pattern, Alopecia, Hypoproteinemia |
ORPHA:2315 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Irritability, Rigidity, Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, P... |
OMIM:233910 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Tetraparesis,... |
ORPHA:363400 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Difficulty walking, Abnormal circulating creatine kinase concentration, Chorea, Truncal... |
ORPHA:369840 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Confusio... |
ORPHA:282166 |
| Reni Syndrome |
|
Hypoalbuminemia, Mental deterioration, Ataxia, Hypertriglyceridemia |
OMIM:617575 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Gait disturbance, Cognitive impairment, Ataxia, Dementia |
OMIM:603472 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... |
OMIM:619738 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Gait disturbance, Dystonia |
ORPHA:101006 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par... |
ORPHA:329478 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Depression, Astigmatism, Ataxia |
ORPHA:231183 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Frontal upsweep of hair, Tremor, Ataxia |
OMIM:300983 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Mental deterioration, Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Emot... |
ORPHA:206443 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Premature graying of hair, Tremor, Rigidity, Hypertonia, Ataxia, Hypopigmentation of ... |
ORPHA:33445 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sig... |
OMIM:606693 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Mental deterioration, Cataract, Memory impairment, Depression, Tremor, Elevated circulating creat... |
ORPHA:79095 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Loss of ambulation, Irritability, Dystonia |
OMIM:615010 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Nail dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive ... |
ORPHA:98773 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Ataxia, Cataract, Inability to walk, Elevated circulating creatine kinase concentration |
OMIM:615350 |
| Gerstmann-Straussler Disease |
|
Spasticity, Memory impairment, Depression, Limb ataxia, Myoclonus, Emotional lability, Tremor, Ri... |
OMIM:137440 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... |
OMIM:618598 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Short atten... |
ORPHA:88618 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Spasticity, Spastic tetraparesis, Spastic diplegia, Chorioretinal atrophy, Irrit... |
OMIM:619487 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Tremor, ... |
ORPHA:1170 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Confusion, Hypo... |
ORPHA:36913 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Fragile X Tremor/Ataxia Syndrome |
|
Mental deterioration, Memory impairment, Depression, Resting tremor, Dysdiadochokinesis, Postural... |
OMIM:300623 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapy... |
ORPHA:53351 |
| Stiff Person Spectrum Disorder |
|
Falls, Difficulty walking, Emotional lability, Rigidity, Exaggerated startle response |
ORPHA:3198 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... |
ORPHA:101 |
| Tay-Sachs Disease |
|
Incoordination, Mania, Poor fine motor coordination, Memory impairment, Depression, Inability to ... |
ORPHA:845 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia, Hypertrichosis |
ORPHA:1655 |
| Phenylketonuria |
|
Cataract, Depression, Fair hair, Irritability, Maternal hyperphenylalaninemia, Attention deficit ... |
OMIM:261600 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Astigmatism, Tremor, Attention deficit hyperactivity disorder, Hypertonia, Ataxia |
OMIM:619556 |
| Baralle-Macken Syndrome |
|
Cataract, Spasticity, Inability to walk, Hirsutism, Dystonia |
OMIM:619255 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:619013 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Poor motor coordination, Sunflower cataract, Hand tremor, Kayser-F... |
OMIM:277900 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Cataract, Spasticity, Hypoplasia of the iris, Ataxia, Dystonia, Opacification of... |
OMIM:251300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Neonatal death |
OMIM:608104 |
| Ataxia With Vitamin E Deficiency |
|
Mental deterioration, Tremor, Dysmetria, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait di... |
ORPHA:96 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... |
OMIM:614867 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... |
OMIM:613135 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Mental deterioration, Spastic paraplegia, Depression, Broad-based gait, Generalized dysto... |
OMIM:312080 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Cataract, Pseudobulbar paralysis, Tremor, Babinski sign, Gait dis... |
OMIM:616586 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Hypocholesterolemia, Abnormal cir... |
ORPHA:14 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Omenn Syndrome |
|
Alopecia, Hypoproteinemia |
OMIM:603554 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Spasticity, Dysmetria, Subcapsular cataract, Babinski sign, Ataxia, Intention tremor |
OMIM:612674 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dementia, Dystonia |
ORPHA:329284 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia |
OMIM:617810 |
| Muscle-Eye-Brain Disease |
|
Cataract, Hemiplegia/hemiparesis, Elevated circulating creatine kinase concentration, Gait distur... |
ORPHA:588 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Sneddon Syndrome |
|
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia |
ORPHA:820 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Prune1-Related Neurological Syndrome |
|
Tongue fasciculations, Cataract, Spastic paraparesis, Inability to walk, Elevated circulating cre... |
ORPHA:544469 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Mental deterioration, Difficulty walking, Tremor, Loss of ambulati... |
ORPHA:137898 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Classic Galactosemia |
|
Mental deterioration, Cataract, Depression, Incoordination, Speech apraxia, Postural tremor, Gait... |
ORPHA:79239 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... |
OMIM:612109 |
| 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 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Depression, Falls, Bradykinesia, Emotional lability, Tremor, Ir... |
ORPHA:683 |
| Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
| Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Shuffling gait, Focal dystonia, Generalized dystonia, Inability to walk, Tr... |
ORPHA:52368 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Confusion, Chorea, Cogwheel rigidity, Action... |
OMIM:607483 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia, Irritability |
OMIM:613070 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism... |
OMIM:300894 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Chorioretinal hypopigmentation, Coarse hair, Inability to walk, Long eyelashes, ... |
OMIM:617303 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Tortic... |
OMIM:128100 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Tremor, Dysmetria, Babinski sign, ... |
OMIM:302800 |
| Cystathioninuria |
|
Cystathioninemia, Tremor |
ORPHA:212 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign... |
ORPHA:309246 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Spasticity, Hyperalaninemia, Progressive neurologic deterioration, Chorioretinal... |
OMIM:618329 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... |
OMIM:616212 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Spasticity, Irritability, Lower limb spasticity, Clonus, Hypertonia, Ataxia, Exaggerated startle ... |
OMIM:616881 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Myoclonus, Elevated circulating creatine kinase concentration, Neonatal death, C... |
OMIM:619055 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Depression, Ataxia |
ORPHA:231169 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria |
ORPHA:300573 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigid... |
OMIM:618877 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... |
ORPHA:70594 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ... |
ORPHA:1578 |
| Atypical Rett Syndrome |
|
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t... |
ORPHA:3095 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... |
OMIM:617435 |
| Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
| Parkinson Disease 1, Autosomal Dominant |
|
Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidi... |
OMIM:168601 |
| Parkinson Disease 20, Early-Onset |
|
Mental deterioration, Involuntary movements, Shuffling gait, Short stepped shuffling gait, Bradyk... |
OMIM:615530 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Tremor, Dysmetria, Ataxia, Intention tremor |
OMIM:212065 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Phacoanaphylactic Uveitis |
|
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... |
ORPHA:209959 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Attention deficit hyperactivi... |
OMIM:619725 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia |
ORPHA:1667 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Difficulty walking, Chorea, Tremor, Elevated circulating crea... |
OMIM:615673 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Perry Syndrome |
|
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Dementia |
ORPHA:178509 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Mental deterioration, Spasticity, Involuntary movements, Difficulty walking, Abnormality of coord... |
ORPHA:442835 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Memory impairment, Dysdiadochokinesis, Resting tremor, Shuffling gait, Akinesia, Gait... |
ORPHA:247234 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia |
OMIM:607876 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Spasticity, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia |
OMIM:617093 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Gait disturbance, Tremor, Ataxia |
ORPHA:99014 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Spasticity, Inability to walk, Chorea, Short attention span, Irritability, Hypertonia, Exaggerate... |
OMIM:617864 |
| Myopathy, Mitochondrial, And Ataxia |
|
Depression, Difficulty walking, Inability to walk, Limb ataxia, Tremor, Elevated circulating crea... |
OMIM:617675 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Depression, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dy... |
ORPHA:227510 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Bab... |
OMIM:608643 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619473 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment |
ORPHA:64743 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Conjunctivitis, Elevated circulating creat... |
ORPHA:454836 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ... |
ORPHA:199351 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Hyperekplexia 2 |
|
Myoclonus, Astigmatism, Hypertonia, Exaggerated startle response |
OMIM:614619 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Monilethrix |
|
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Cognitive impairment, Slow-gro... |
ORPHA:573 |
| Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma, Spar... |
ORPHA:2611 |
| Perry Syndrome |
|
Short stepped shuffling gait, Depression, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism,... |
OMIM:168605 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls |
OMIM:616719 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Trichor... |
OMIM:222470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Developmental cataract, Elevated circulating creatin... |
OMIM:613154 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic paraplegia, Cataract, Resting tremor, Gait ataxia, Hoffmann sign, Babinski sign, Lower li... |
OMIM:601162 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Steppage gait, Gait disturbance, Tremor |
OMIM:118300 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Mental deterioration, Involuntary movements, Cataract, Myoclonus, Dysmetria, Abnormal pyramidal sign |
OMIM:619780 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Cognitive impairment, Ataxia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Loss of ... |
OMIM:607371 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Frequent falls, Elevated circulating creatine kinase concentration |
OMIM:160565 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkins... |
OMIM:168600 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Abnormal hair morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular catarac... |
ORPHA:414 |
| Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor |
OMIM:615651 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response |
OMIM:609541 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Episodic ataxia, Myoclonus, Tremor, Hyperalaninemia, Dystonia, Increased serum pyruvate, Choreoat... |
OMIM:312170 |
| Macrophage Activation Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... |
ORPHA:158061 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Hypertonia, Tremor, Ataxia |
OMIM:617106 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... |
OMIM:614195 |
| Liver Disease, Severe Congenital |
|
Dry hair, Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span,... |
OMIM:619991 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia, Irritability |
ORPHA:292 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Difficulty walking, Head tremor, Gait ataxia, Conjunctival telangi... |
ORPHA:95433 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
| Jaberi-Elahi Syndrome |
|
Cataract, Sparse eyebrow, Broad-based gait, Fine hair, Inability to walk, Gait ataxia, Tremor, Sp... |
OMIM:617988 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, I... |
ORPHA:94089 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Depression, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal... |
OMIM:612716 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Memory impairment, Spastic gait, Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Developme... |
ORPHA:447753 |
| Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Elevated circula... |
OMIM:615356 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ... |
ORPHA:309854 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Gait disturbance, Hypertonia, Tremor |
ORPHA:1192 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Poor coordination, Corneal scarring |
OMIM:610965 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce... |
OMIM:606002 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Myoclonus, Clonus, Exaggerated startle response |
OMIM:618201 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... |
OMIM:616840 |
| Intermediate Uveitis |
|
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis |
ORPHA:279914 |
| Gm2-Gangliosidosis, Ab Variant |
|
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... |
OMIM:272750 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
| Hemochromatosis, Type 4 |
|
Cataract, Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:606069 |
| Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... |
OMIM:601552 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia |
OMIM:604278 |
| Ataxia-Telangiectasia |
|
Spasticity, Premature graying of hair, Tremor, Gait disturbance, Cognitive impairment, Ataxia, Hy... |
ORPHA:100 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... |
OMIM:231100 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Sparse hair, Hypernatremia |
OMIM:615508 |
| Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Dystonia, Tremor, Spasticity |
OMIM:304700 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:540 |
| Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:616171 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... |
OMIM:616505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Depression, Exaggerated startle response |
OMIM:620114 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Decreased circulating pr... |
ORPHA:37042 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hypocalcemia, Elevated... |
ORPHA:36234 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Young-Onset Parkinson Disease |
|
Spasticity, Depression, Bradykinesia, Frontal lobe dementia, Gait imbalance, Short attention span... |
ORPHA:2828 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response |
OMIM:620327 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia |
ORPHA:529665 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia |
OMIM:207950 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Tremor, Hemiparesis, Apraxia |
OMIM:602481 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Hypoplastic anterior commissure, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:616975 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:618273 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Alopecia, Nail dystrophy, Corneal opacity |
ORPHA:79396 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Spasticity, Memory impairment, Depression, Resting tremor, Cataract, Head t... |
ORPHA:314404 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Speech apraxia, Hypercholesterolemia, Increased level of galactitol i... |
ORPHA:79237 |
| Sialidosis Type 1 |
|
Cataract, Myoclonus, Tremor, Gait disturbance, Corneal opacity, Ataxia, Slurred speech |
ORPHA:812 |
| Stiff-Person Syndrome |
|
Depression, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls |
OMIM:184850 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Alopecia of scalp, Emotional lability, Tremor, Irritability, Decreased serum zinc, Ataxia |
OMIM:201100 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... |
ORPHA:364055 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Abnormality of extrapyramidal motor function, Progressive spastic paraplegia,... |
ORPHA:320406 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly |
ORPHA:89844 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Hypertonia, Exaggerated startle response |
OMIM:272800 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... |
ORPHA:765 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hypertrichosis, Inability to walk, Long eyelashes, Thick hair, Conjunctivitis |
ORPHA:505248 |
| Serotonin Syndrome |
|
Mental deterioration, Mydriasis, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hy... |
ORPHA:43116 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Dementia, Astigmatism, Tremor, Ataxia |
OMIM:278760 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradyk... |
OMIM:146500 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance |
ORPHA:83629 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity |
ORPHA:457240 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration |
OMIM:176500 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Low posterior hairline, Hypoalbuminemia |
ORPHA:79324 |
| East Syndrome |
|
Hypomagnesemia, Difficulty walking, Inability to walk, Action tremor, Hypokalemia, Ataxia, Increa... |
ORPHA:199343 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Broad-based gait, Gait imbalance, Myoclonus, Short attention span, Tremor,... |
ORPHA:98794 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Periodic paralysis, Tremor |
OMIM:613239 |
| Hyperekplexia-Epilepsy Syndrome |
|
Hypertonia, Exaggerated startle response |
ORPHA:163985 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Spasticity |
OMIM:617729 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Pachygyria, Subcortical hete... |
OMIM:614643 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Developmental glaucoma, Vo... |
ORPHA:99956 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Depression, Dysdiadochokinesis, Difficulty walking, Tremor, Dysmetria, Thick hair, Mildly elevate... |
ORPHA:502423 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
| Sympathetic Ophthalmia |
|
Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio... |
ORPHA:79098 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Hirsutism |
OMIM:235510 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Ataxia, ... |
OMIM:614381 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine kinase concent... |
ORPHA:370959 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Spastic gait, Dysdiadochokinesis, Tetraparesis, Gait atax... |
ORPHA:99027 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617622 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Mental deterioration, Spasticity, Cataract, Keratitis, Corneal neovascularization, Keratoconjunct... |
OMIM:278730 |
| Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Akinesia, Low fru... |
ORPHA:411602 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Cerebrotendinous Xanthomatosis |
|
Cataract, Spasticity, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Dif... |
OMIM:213700 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| Al Amyloidosis |
|
Hypoalbuminemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma... |
OMIM:105210 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae |
ORPHA:1885 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Spasticity, Nuclear cataract, Inability to walk, Hypertonia, Ataxia, Hyperkalemia, Conj... |
OMIM:608885 |
| Hyperekplexia 3 |
|
Myoclonus, Hypertonia, Exaggerated startle response |
OMIM:614618 |
| Kawasaki Disease |
|
Hypoalbuminemia, Abnormality of nail color, Irritability, Conjunctival hyperemia, Elevated circul... |
ORPHA:2331 |
| Tetanus |
|
Tremor, Rigidity, Elevated circulating creatine kinase concentration, Opisthotonus, Hypertonia, S... |
ORPHA:3299 |
| Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Short attention span, Ataxia, Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, Hyperprolinemia, Hyperalanin... |
OMIM:620451 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor, Ataxia |
ORPHA:713 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Spasticity, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Zonular cataract, ... |
OMIM:616271 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Alopecia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Hirsuti... |
ORPHA:2298 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Depression, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinson... |
OMIM:157640 |
| Cadds |
|
Increased circulating very long-chain fatty acid concentration, Cataract, Dystonia |
ORPHA:369942 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... |
OMIM:601104 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mildly elevated creatine kinase, Tremor |
ORPHA:397744 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor... |
ORPHA:2719 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... |
ORPHA:899 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hyperamylasemia, Hyper... |
ORPHA:99826 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Mental deterioration, Spasticity, Depression, Bradykinesia, Akinesia, Tremor, Rigi... |
OMIM:234200 |
| Hyperekplexia 1 |
|
Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response |
OMIM:149400 |
| Sandhoff Disease |
|
Spasticity, Fasciculations, Progressive psychomotor deterioration, Ataxia, Upper motor neuron dys... |
OMIM:268800 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cataract, Posterior subcapsular cataract, Resting tremor, Cerulean cataract, Extrapyramidal muscu... |
ORPHA:67036 |
| Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
| Hyperlysinemia |
|
Hypoornithinemia, Poor motor coordination, Tip-toe gait, Thin eyebrow, Short attention span, Hype... |
ORPHA:2203 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... |
ORPHA:2211 |
| Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Abnormal hair morphology, Inability to walk, M... |
OMIM:208900 |
| Mercury Poisoning |
|
Hypokalemia, Confusion, Dystonia, Tremor |
ORPHA:330021 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Hyperammonemia, Tremor, Neonatal death, Hyperalaninemia, Ataxia, Intention tremor |
OMIM:614052 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of ambulation, Right ... |
OMIM:607426 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... |
ORPHA:25 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycinemia, Myoclonus, Irritability, Ankle clonus, Hypertonia, Exaggerated startle response,... |
OMIM:620423 |
| Joubert Syndrome With Renal Defect |
|
Highly arched eyebrow, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia, Iris coloboma |
ORPHA:220497 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... |
ORPHA:90363 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy... |
OMIM:615219 |
| Tyrosinemia Type 2 |
|
Corneal opacity, Tremor, Ataxia |
ORPHA:28378 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cataract, Depression, Resting tremor, Cogwheel rigidity, Gait ataxia, Tremor, Elevated circulatin... |
ORPHA:254892 |
| Neuhauser Syndrome |
|
Megalocornea, Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Hypercholesterolemia, ... |
OMIM:249310 |
| Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Tremor, Irritability, Clonus, Limb hypertonia, Hypertonia, Exaggerated startle... |
OMIM:615574 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... |
ORPHA:186 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Episodic hemiplegia, Tetraparesis, Thin eyebrow, Chorea, Emotional lability, Tremor, R... |
ORPHA:2131 |
| Joubert Syndrome |
|
Highly arched eyebrow, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia, Iris coloboma |
ORPHA:475 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Depression, Uveitis |
ORPHA:171 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:848 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Ifap Syndrome 2 |
|
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair |
OMIM:619016 |
| Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
| Familial Dysautonomia |
|
Ataxia, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait disturbance, Corneal ... |
ORPHA:1764 |
| Metachromatic Leukodystrophy |
|
Decerebrate rigidity, Tip-toe gait, Incoordination, Emotional lability, Tremor, Gait disturbance,... |
ORPHA:512 |
| Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... |
ORPHA:35107 |
| Wolfram Syndrome 1 |
|
Cataract, Tremor, Ataxia |
OMIM:222300 |
| Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Meningocele |
ORPHA:2481 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cataract, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concent... |
OMIM:270400 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal corpus callosum morphology, Optic atrophy, Hypoplastic anterior commissure, Lateral vent... |
ORPHA:261552 |
| Sandhoff Disease, Infantile Form |
|
Spasticity, Myoclonus, Exaggerated startle response |
ORPHA:309155 |
| Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria |
ORPHA:2065 |
| Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Facial-lingual fasciculations, Long eyelashes, Thick eyebrow, Myoclonus, Exaggerated ... |
OMIM:617281 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rigidity, Hirsutism, Babinski sign, Abnormality of extrapyramidal motor function, Abnormal pyrami... |
OMIM:617527 |
| Niemann-Pick Disease Type C |
|
Mental deterioration, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Cog... |
ORPHA:646 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Depression, Hyperbilirubinemia, Tremor, Increased serum bile acid concentration |
ORPHA:69665 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia |
OMIM:613658 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H... |
ORPHA:94093 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Sparse scalp hair |
OMIM:614748 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Tip-toe gait, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolin... |
ORPHA:3008 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Clonus, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619424 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Mental deterioration, Spasticity, Fine hair, Premature graying of hair, Hemiplegia, Nail dystroph... |
OMIM:612199 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Cogniti... |
OMIM:610505 |
| Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Encephalocele |
ORPHA:2318 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Exaggerated startle response |
OMIM:608800 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Long eyelashes, Clonus, Hypertonia, Exaggerated startle response |
OMIM:617301 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria |
ORPHA:157 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Confusion, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor |
OMIM:274150 |
| Leptospirosis |
|
Conjunctival hyperemia, Hyperproteinemia, Chorioretinitis, Uveitis |
ORPHA:509 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Ocular albinism, Tremor, Gait disturbance, Ataxia, Hypop... |
OMIM:214500 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach... |
ORPHA:2671 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Tremor, Respiratory paralysis... |
ORPHA:79102 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Progressive neurol... |
OMIM:614947 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Rigidity, Hirsutism, Progressive spastic quadriplegia, Abnormality of extrapyramidal motor functi... |
ORPHA:521426 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Spasticity, Tremor, Irritability, Babinski sign, Hypertonia, Elevated hemoglobin A1c |
OMIM:616539 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
| 3C Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:7 |
| Oculodentodigital Dysplasia |
|
Ataxia, Cataract, Spasticity, Spastic paraparesis, Microcornea, Abnormality iris morphology, Fine... |
ORPHA:2710 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Lissencephaly |
OMIM:617822 |
| Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
| Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
| Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... |
OMIM:601390 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq... |
OMIM:619895 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria |
ORPHA:228308 |
| Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Hydrocephalus |
OMIM:619833 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Scorpion Envenomation |
|
Mydriasis, Hemifacial spasm, Myoclonus, Tremor, Hypokalemia, Hyperkinetic movements, Increased ci... |
ORPHA:466677 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:465508 |
| 16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:261236 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Spasticity, Increased circulating ferritin concentration, Elevated circulating c... |
OMIM:619534 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
| Gm1 Gangliosidosis Type 1 |
|
Spasticity, Decerebrate rigidity, Exaggerated startle response, Hirsutism |
ORPHA:79255 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia |
OMIM:619312 |
| 9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia |
OMIM:614105 |
| Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Polymicrogyria |
OMIM:608836 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Thick eyebrow, Irritability, Hypertonia, Exaggerated startle response |
OMIM:618367 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Tremor, Neonatal death, Clonus, Hypertonia, Dystonia |
OMIM:617248 |
| Vici Syndrome |
|
Gray matter heterotopia |
ORPHA:1493 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Gray matter heterotopia |
OMIM:620475 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology |
ORPHA:98977 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hydrocephalus |
OMIM:618476 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:231226 |
| Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencep... |
ORPHA:2162 |
| 6Q Terminal Deletion Syndrome |
|
Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr... |
ORPHA:75857 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, High anterior hairline, Involuntary movements, Broad-ba... |
ORPHA:438213 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria |
OMIM:620024 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Lobar holoprosencephaly, Lissencephaly, ... |
ORPHA:468631 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia |
OMIM:618929 |
| Pagod Syndrome |
|
Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Cataract, Abnormality of coordination, Reduced thyroxin-binding globulin, Ataxia |
ORPHA:79318 |
| Bohring-Opitz Syndrome |
|
Gray matter heterotopia |
OMIM:605039 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Communica... |
OMIM:615287 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Decreased pineal volume |
OMIM:301108 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Irritability, Attent... |
ORPHA:649 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:231214 |
| Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
| Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Hypoplasia of the corpus callosum |
ORPHA:369950 |
| Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
| Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:3186 |
| Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
| Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Abnormal cortical gyration, Hydrocephalus, Myelomeningocele |
OMIM:311200 |
| Aicardi Syndrome |
|
Pachygyria, Gray matter heterotopia, Spina bifida, Polymicrogyria |
OMIM:304050 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Gray matter heterotopia |
OMIM:620654 |
| Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia |
ORPHA:314679 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Abnormality of iron homeostasis, Hypopigment... |
ORPHA:84064 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Holoprosencephaly, Polymicrogyria |
OMIM:618820 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
| Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
| Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele |
OMIM:603671 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Hydrocephalus, Gray m... |
OMIM:210710 |
| Vici Syndrome |
|
Gray matter heterotopia |
OMIM:242840 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Holoprosencephaly, Simplifi... |
OMIM:615948 |
| Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
| Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Hydrocephalus |
OMIM:612289 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume |
ORPHA:769 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
| Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
| Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
| Genitopatellar Syndrome |
|
Pachygyria, Periventricular heterotopia |
OMIM:606170 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Polymicrogyria |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Polymicrogyria |
ORPHA:2152 |
