| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Elevated circulating creatine kinase concentration... |
OMIM:160120 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign |
OMIM:311050 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... |
OMIM:615924 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Hearing impairment, Mildly elevated creatine kinase |
OMIM:614369 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... |
OMIM:601068 |
| Deafness, Autosomal Recessive 48 |
|
Abnormal vestibular function, Profound sensorineural hearing impairment |
OMIM:609439 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... |
OMIM:144300 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... |
OMIM:615127 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Hearing impairment |
ORPHA:217012 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i... |
OMIM:165300 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor, Hearing impairment |
OMIM:312910 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, EEG with photopa... |
OMIM:613608 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hemiplegia, At... |
OMIM:614561 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis,... |
OMIM:277460 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c... |
ORPHA:64753 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... |
OMIM:208920 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Ataxia, Reticulocy... |
OMIM:612126 |
| Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Hypertriglyceridemia, Sensorineural hearing impairment, Elevated circulating crea... |
OMIM:610717 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... |
OMIM:605407 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Resting tremor, Postural tremor, Writer's cramp, Dysdiadochokinesis, Tor... |
OMIM:128230 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Ataxia-Oculomotor Apraxia 4 |
|
Abnormal pyramidal sign, Tetraplegia, Oculomotor apraxia, Ataxia, Elevated circulating alpha-feto... |
OMIM:616267 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, EEG with generalized epileptiform discharges, Ataxia |
OMIM:616187 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor coordinati... |
ORPHA:363400 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Ataxia, Hypercholesterolemia |
OMIM:607250 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, O... |
ORPHA:521406 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
OMIM:603552 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity, Upper motor neuron dysfunction, Elevated circulating ... |
ORPHA:276435 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor, Interictal epileptiform activity |
OMIM:615400 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Cataract-Ataxia-Deafness Syndrome |
|
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D... |
ORPHA:1368 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating... |
OMIM:613101 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Spastic dysarthria, Hypoalbuminemia, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... |
ORPHA:52368 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Hearing impairment |
ORPHA:79234 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Elevated circulating creatine kinase concentration,... |
ORPHA:90117 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia |
ORPHA:488650 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Tremor, EEG with spike-wav... |
OMIM:614018 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
| Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... |
ORPHA:216873 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Tremor, Hemiplegia |
OMIM:141500 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel... |
ORPHA:363710 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... |
OMIM:213600 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast... |
OMIM:618598 |
| Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor |
OMIM:619561 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso... |
OMIM:619279 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
| Parkinson Disease 22, Autosomal Dominant |
|
Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradykinesia |
OMIM:610297 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... |
OMIM:611302 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se... |
OMIM:609260 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ... |
OMIM:614307 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Spasticity, Exaggerated startle response, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... |
OMIM:616881 |
| Growth Hormone Insensitivity Syndrome |
|
Hearing impairment, Hypercholesterolemia |
ORPHA:181393 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Abnormal nerve conduction velocity, Hearing impairment, Ataxia |
ORPHA:101075 |
| Cystathioninuria |
|
External ear malformation, Tremor, Cystathioninemia |
ORPHA:212 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... |
OMIM:618587 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... |
OMIM:607876 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ... |
OMIM:617916 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Froment sign, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, He... |
OMIM:620158 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... |
OMIM:300635 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Hearing impairment, Ataxia |
ORPHA:101078 |
| Myopathy, spheroid body |
|
Tremor, Elevated circulating creatine kinase concentration |
OMIM:182920 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase... |
ORPHA:3240 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... |
OMIM:615558 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... |
OMIM:616828 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Upper motor neuron ... |
ORPHA:206443 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Mildly elevated creatine kinase, Hyperlipidemia, Tetraplegia, Fasciculations |
OMIM:604484 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Postural tremor... |
ORPHA:98762 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... |
OMIM:267700 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia |
OMIM:619651 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... |
OMIM:612716 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... |
OMIM:164500 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Action tremor, Hypercholesterolemia |
ORPHA:77296 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor |
OMIM:618387 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia, Hearing impa... |
ORPHA:139485 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia |
ORPHA:163985 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circulating guanidinoaceti... |
OMIM:612736 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Abnormality of somatosensory evoked potentials, Decreased motor nerve con... |
ORPHA:206594 |
| Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Tongue fas... |
OMIM:159950 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... |
ORPHA:99027 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration |
ORPHA:210128 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology |
OMIM:300983 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... |
ORPHA:3124 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra... |
ORPHA:401768 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Ataxia, Tremor, EEG abnormality |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia |
OMIM:616366 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Tremor, Hearing impairment |
ORPHA:99014 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, EEG with generalized slow activity grade 4, Spasticity, Myo... |
ORPHA:79263 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
| Peroxisome Biogenesis Disorder 5B |
|
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Oculomotor ap... |
OMIM:614867 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... |
ORPHA:247585 |
| Galactokinase Deficiency |
|
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hep... |
ORPHA:79237 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... |
OMIM:613280 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia |
OMIM:128235 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic para... |
ORPHA:329284 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... |
OMIM:182290 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Abnormal autonomic nervous system physiology, Oculogyric crisis... |
OMIM:618049 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Sensorineural hearing impairment, Eyelid myoclonus, Clumsiness, Myoclonus, Hepato... |
ORPHA:2590 |
| Hsd10 Disease |
|
Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor, Hearing... |
ORPHA:391417 |
| Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Optic atrophy, Rigidity, Ataxia, Tremor, Hypertonia |
ORPHA:33445 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
| Cog4-Cdg |
|
Limb hypertonia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ... |
OMIM:261640 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response, Myoclonus, Clonus |
OMIM:618201 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Poor fine motor coordination, Hypercholesterolemia |
ORPHA:254531 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Apraxia, Dysmetria, Tremor |
OMIM:617810 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Macrotia |
OMIM:616269 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements... |
OMIM:233910 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Dystonia, Splenomegaly |
OMIM:615010 |
| Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia |
OMIM:616222 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Hemiplegia, Ataxia, Hepatosplenomegal... |
OMIM:603553 |
| Developmental And Epileptic Encephalopathy 42 |
|
EEG abnormality, Ataxia, Tremor, Hypertonia, Athetosis |
OMIM:617106 |
| Glycerol Kinase Deficiency |
|
Low-set ears, Hypertriglyceridemia |
OMIM:307030 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Resting tremor, Dysdiadochokinesis, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Optic atrophy, Babinski sign, Spastic paraplegia, Opt... |
OMIM:609541 |
| Tangier Disease |
|
Facial diplegia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-... |
OMIM:205400 |
| Multiple System Atrophy |
|
Orthostatic hypotension due to autonomic dysfunction, Gait ataxia, Abnormal pyramidal sign, Postu... |
ORPHA:102 |
| Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Elevated circulating cre... |
OMIM:619473 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... |
OMIM:210250 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Rigidity, Ataxia, Decreased sensory nerve conduction v... |
OMIM:603472 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor |
OMIM:607734 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
| Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Lymphopenia, Ataxia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Hyperlysinemia, Optic atrophy, Clumsiness, Abnormality of extrapyramidal motor function, ... |
OMIM:615673 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529799 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... |
OMIM:619260 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Chédiak-Higashi Syndrome |
|
Spastic paraplegia, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morpho... |
ORPHA:167 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
| Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Elevated ci... |
OMIM:617013 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Upper limb postural tremor, Hand tremor, Myoclonus, Or... |
ORPHA:420485 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response, Macrotia, Spasticity, Spastic tetraplegia, Optic nerve hypo... |
OMIM:617864 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Paraparesis, Hand tr... |
OMIM:302800 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls, Splenomegaly |
OMIM:616719 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... |
ORPHA:240085 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Upper limb postural tre... |
OMIM:612953 |
| Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macrotia, Resting tremor, Spastic tetraplegia, Spastic gait, Parkinsonism, Apraxia, Choreoathetos... |
OMIM:300055 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Myoclonus, Ataxia, Large fleshy ears, Tremor, Hypertonia, Low-set ears, Overfolded h... |
OMIM:619092 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ... |
ORPHA:845 |
| Adult Krabbe Disease |
|
Hoffmann sign, Progressive spastic paraparesis, Spasticity, EEG abnormality, Clumsiness, Upper mo... |
ORPHA:206448 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Postlingual sensorineural hearing impairment, Progressive sensorineural hearing impai... |
OMIM:304700 |
| Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Vestibular nystagmus, EEG with persistent abnormal ... |
ORPHA:282166 |
| Cln5 Disease |
|
Spasticity, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Multifocal epileptiform di... |
ORPHA:228360 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Exaggerated startle response, Optic atrophy, Abnormality of extra... |
ORPHA:320406 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Sensorineural hearing impairment, Neutropenia, Increased circulating ferritin concentrati... |
ORPHA:540 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
| Dopa-Responsive Dystonia |
|
Parkinsonism, Fatigable weakness, Poor coordination, Oculogyric crisis, Rigidity, Abnormality of ... |
ORPHA:255 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Low-set ears, Tremor, Spastic paraplegia |
ORPHA:477673 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Tremor, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ata... |
ORPHA:158048 |
| Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Dystonia, Bradykinesia |
OMIM:617435 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mildly elevated creatine kinase, Tremor, Decreased nerve conduction velocity, Vocal cord paralysi... |
ORPHA:397744 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, EEG abnormality, Apraxia, Tremor, Hand apraxia, Involunt... |
ORPHA:3095 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Parkinsonism, Rigidity, Involuntary movem... |
ORPHA:48818 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614619 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Spasticity, Tremor, EEG abnormality |
OMIM:618718 |
| 4H Leukodystrophy |
|
Optic atrophy, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor f... |
ORPHA:289494 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614618 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Spastic tetraplegia, Limb hypertonia, EEG with burst supp... |
OMIM:615574 |
| Riboflavin Transporter Deficiency |
|
Progressive hearing impairment, Abnormal autonomic nervous system physiology, Myoclonus, Ataxia, ... |
ORPHA:97229 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, EEG abnormality, Ataxia, Hypercholesterolemia, Protruding ear |
ORPHA:2479 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor |
OMIM:614831 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, ... |
ORPHA:101085 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
| Behr Syndrome |
|
Optic atrophy, Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, ... |
OMIM:210000 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme... |
ORPHA:98907 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia |
ORPHA:819 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 46 |
|
Hypsarrhythmia, Tremor, Limb hypertonia |
OMIM:617162 |
| Megalocornea-Mental Retardation Syndrome |
|
Poor coordination, Ataxia, Large fleshy ears, Hypercholesterolemia, Cupped ear |
OMIM:249310 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Spastic ataxia, Optic atrophy, Progressive spasticity, Truncal atax... |
ORPHA:137898 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor |
OMIM:616795 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Optic atrophy, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:607694 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia, Decreased proportion ... |
ORPHA:66628 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Tremor, Sensorineural hearing impairment, Hypertonia |
ORPHA:1192 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration... |
ORPHA:713 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus |
OMIM:184850 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Oromandibula... |
OMIM:128100 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Poor fine motor coordination, Hypercholesterolemia |
ORPHA:96184 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Frequent falls, Myoclonus, Hypertonia |
OMIM:149400 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Optic atrophy, Limb hypertonia, Rigidity, Hypsarrhythmia, Myoclonus, Ataxia, EEG with... |
ORPHA:442835 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Oculomotor apraxia, Dysmetria, Tremor |
ORPHA:529665 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Exaggerated startle response |
OMIM:618367 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia, Decreased proportion ... |
ORPHA:179494 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration |
OMIM:604367 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Sensorineural hearing impairment |
OMIM:615381 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... |
OMIM:618056 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Incoordination, Ataxia, Tremor, EEG with spike-wave complexes, Brad... |
ORPHA:36387 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Spastic paraple... |
OMIM:612164 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Focal EEG discharges with secondary ... |
ORPHA:3077 |
| Griscelli Syndrome Type 1 |
|
Ataxia, Hyperlipidemia, Hypertonia |
ORPHA:79476 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Tremor by anatomical site, Abnormal pyramidal sign, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Spasticity, Ankle clonus, Optic atrophy, Spastic ... |
ORPHA:206436 |
| Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... |
OMIM:615947 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Attached earlobe, Hyperkinetic movements, Hearing impairment, Posteriorly rotated... |
ORPHA:289522 |
| Tetanus |
|
Rigidity, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase conc... |
ORPHA:3299 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Involuntary movements, Truncal ataxia, Myoclonus,... |
ORPHA:101 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... |
ORPHA:352649 |
| Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Optic atrophy, Writer's cramp, Choreoathetosis, Ataxia, Intention tremor... |
OMIM:312080 |
| Cockayne Syndrome Type 1 |
|
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... |
ORPHA:90321 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Mildly elevated creatine kinase, Facial diplegia, Tremor, Decreased nerve conductio... |
ORPHA:329478 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir... |
ORPHA:98863 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir... |
ORPHA:98853 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Oculomot... |
OMIM:606002 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Sneddon Syndrome |
|
Tremor, Lymphopenia, Hemiplegia, Facial palsy |
OMIM:182410 |
| Sandhoff Disease, Infantile Form |
|
Spasticity, Exaggerated startle response, Myoclonus, Hepatosplenomegaly |
ORPHA:309155 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Resting tremor, Dysdiadochokinesis, Parkinsonism, Abnormal autonomic ner... |
ORPHA:247234 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Optic atrophy, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Hypertonia, Inte... |
OMIM:616505 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Spastic diplegia, Neutropenia in presence of anti-neutropil antibodies, Pure red ce... |
OMIM:613179 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia, Throm... |
OMIM:617710 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Hyperlipidemia, Hypertonia, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
