Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation |
OMIM:147530 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... |
OMIM:607734 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Symmetrical progressive peripheral demyelination, Progressive gai... |
ORPHA:208981 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... |
OMIM:601098 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... |
ORPHA:2932 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Froment sign, Hand paresthesia, Decreased motor... |
OMIM:162500 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired proprioception, Impaired vibratory sensation, Hypertrophic nerve changes, Impaired pain ... |
DECIPHER:29 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, CNS demyelination, Peripheral demyelination, Optic atrophy |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Distal sensory impairment, Onion bulb formation |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Peripheral demyelination, Decreased number of large peripheral myelinated nerve fibers, Sensory a... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Distal sensory impairment, Onion bulb formation |
OMIM:615185 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination, Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... |
OMIM:607791 |
Null Syndrome |
|
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Decreased ner... |
ORPHA:280234 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Motor deterior... |
ORPHA:98765 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Axonal loss, Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous... |
ORPHA:206594 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Peripheral demyelinat... |
OMIM:617672 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... |
ORPHA:401840 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal tactile sensation, Onion bulb formation, Peripheral axonal neuropathy, Decreased ... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... |
OMIM:118210 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... |
OMIM:607080 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Incoordination, Cerebellar atrophy, Dysmetria, Hand tremor, Frequ... |
OMIM:302800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Axonal degener... |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, D... |
OMIM:118200 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... |
OMIM:604484 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Dystonia, Dysmetria, ... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... |
OMIM:607731 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Impa... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... |
OMIM:608340 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral demyelination, Impaired vibratory sensation, Impaired tactile sensation, Impaired pain... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Mental deterioration, Onion bulb formation, Steppage gait, Decreased number of periph... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:614228 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Cognitive impairment, Onion bulb formation, Spastic paraplegia, Steppage gait, Distal sensory imp... |
OMIM:615035 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Cognitive impairment, Dystonia, Choreoathetos... |
OMIM:208920 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation, Dysesthesia |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic paraparesis, Babinski sign, Spastic ataxia, Optic atrophy |
OMIM:613672 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... |
OMIM:605588 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy |
OMIM:182815 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Chronic ax... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... |
OMIM:214400 |
Charcot-Marie-Tooth Disease Type 1A |
|
Spontaneous pain sensation, Sensory ataxia, Demyelinating peripheral neuropathy, Decreased sensor... |
ORPHA:101081 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity |
ORPHA:640 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Steppage gait, Axonal degene... |
OMIM:614436 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tetraparesis, Cognitive impairment, Dementia, Unsteady gait, Decreased number of peripheral myeli... |
ORPHA:2386 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting ... |
ORPHA:445062 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... |
OMIM:607706 |
Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy, Decreased number of large peripheral myelinated nerve fibers, Unsteady... |
ORPHA:497764 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Cerebral atrophy, Peripheral demyelination, Memory impairment, Caudate atrophy, Apra... |
OMIM:221770 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Cognitive impair... |
OMIM:604168 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Cerebral cortical atrophy, L... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Frequent falls, Onion bulb formation, Steppage gait, Difficulty walking |
OMIM:618279 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Peripheral demyelination, Mental deterioration, Decreased nerve conduction ... |
OMIM:249900 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Atrophy of the spinal cor... |
OMIM:602433 |
Adult Krabbe Disease |
|
Erectile dysfunction, Hoffmann sign, Progressive spastic paraparesis, CNS demyelination, Somatic ... |
ORPHA:206448 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... |
OMIM:105550 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atr... |
ORPHA:431329 |
Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral atrophy, Sensory axonal neuropathy, Cognitive impairment, Dystonia, Choreoathetosis, Int... |
OMIM:608804 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Cerebral atrophy, Delayed myelination, Inability to walk, Tetraplegia |
OMIM:618331 |
Chorea, Benign Hereditary |
|
Anxiety, Chorea, Gait disturbance |
OMIM:118700 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Atrophy of the spinal cord, Sensorineural hearing impairment, Spastic paraplegia, Lower limb spas... |
ORPHA:100986 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Atrophy of the spinal cord, Action tremor, Orthostatic hypotension, Aplasia/Hypoplasia of the cor... |
ORPHA:99027 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal sen... |
OMIM:311070 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... |
ORPHA:423275 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:98856 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... |
OMIM:616053 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination, Dystonia, Ataxia, Difficulty walking |
OMIM:616684 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... |
ORPHA:275872 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Frequent falls, Abnorm... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:302801 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Spasticity, Neurodegeneration, Leukoencephalopathy, Periven... |
OMIM:615889 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreased number of peripheral mye... |
OMIM:600882 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... |
ORPHA:99014 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia |
OMIM:619061 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrea... |
OMIM:607831 |
Friedreich Ataxia |
|
Sensory axonal neuropathy, Dysmetria, Dystonia, Cervical spinal cord atrophy, Intention tremor, I... |
ORPHA:95 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Leukodystrophy, Spasticity, Clonus, Delayed myelination, Optic atrophy, Hypertonia |
OMIM:616881 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Atrophy of the spinal cord, Cerebellar atrophy, Generalized dysto... |
ORPHA:329308 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Resting tremor, Dystonia, Shuffling gait, Inability to walk, Akines... |
ORPHA:391411 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Microcephaly... |
OMIM:618276 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Positive Romberg sign, Optic at... |
OMIM:258650 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Akinesia, Gait ataxia, Limb ataxia, G... |
ORPHA:98764 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Spasticity, Babinski sign, Poor ... |
ORPHA:320370 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased n... |
ORPHA:101082 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Atrophy of the spinal cord, Lower limb spasticity, Spastic paraplegia, Gait a... |
ORPHA:139480 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... |
ORPHA:401830 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia |
ORPHA:101075 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Atrophy of the spinal cord, Spastic gait, Focal dystonia, Spastic dysarthria, Peripheral axonal n... |
ORPHA:447757 |
Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... |
ORPHA:726 |
Spastic Paraparesis-Deafness Syndrome |
|
Impaired pain sensation, Spastic paraparesis, Ataxia, Gait disturbance, Hemiplegia/hemiparesis |
ORPHA:2815 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... |
OMIM:252320 |
Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraparesis, Spastic paraplegia |
OMIM:182610 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... |
ORPHA:90103 |
Early-Onset X-Linked Optic Atrophy |
|
Choreoathetosis, Decreased nerve conduction velocity, Gait ataxia, Optic disc pallor, Dysdiadocho... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal sensory impairment, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... |
OMIM:612020 |
Spinocerebellar Ataxia 38 |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia |
OMIM:615957 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Atrophy of the spinal cord, Abnormality of peripheral somatosensory evoked potentials, Microcepha... |
ORPHA:466768 |
Autosomal Dominant Cerebellar Ataxia |
|
Cognitive impairment, Dystonia, Action tremor, Progressive cerebellar ataxia, Paraparesis, CNS de... |
ORPHA:99 |
Superficial Siderosis |
|
Atrophy/Degeneration affecting the brainstem, Abnormal corpus callosum morphology, Atrophy of the... |
ORPHA:247245 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Abolished vibration sense, Impaired pain sensation, Ataxia, Decreased number ... |
OMIM:608703 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Impaired vibratory sensation |
ORPHA:139536 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity |
OMIM:183050 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Spast... |
ORPHA:35689 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor, Cerebellar c... |
ORPHA:247234 |
Krabbe Disease |
|
Decerebrate rigidity, Peripheral demyelination, Motor deterioration, Decreased nerve conduction v... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:613287 |
Mast Syndrome |
|
Apraxia, Spastic paraparesis, Spastic paraplegia, Gait disturbance, Babinski sign |
OMIM:248900 |
Spinocerebellar Ataxia Type 25 |
|
Impaired distal tactile sensation, Decreased number of large peripheral myelinated nerve fibers, ... |
ORPHA:101111 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Spastic tetraparesis, Sensorineural hearing impairment, Microcephaly, Seizure... |
OMIM:618741 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Neuronal loss in central nervous system, Somatic sensory dysfunction, Peripheral demy... |
ORPHA:71211 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Cervical spinal cord atrophy, Sensorineural hearing impairment, Head tremor, Optic n... |
ORPHA:101085 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Central nervous system degeneration, Agenesis of corpus callosum, Akinesia, Agenesis of cerebella... |
OMIM:601160 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Seizure, Neurodegeneration |
OMIM:613068 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal sensory impairment, Impaired vibration sensation in the lower limbs, Decreased nerve condu... |
ORPHA:352675 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:608895 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... |
OMIM:607483 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... |
OMIM:610245 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Demyelinating motor neuropathy,... |
ORPHA:99939 |
Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination, Ataxia |
OMIM:200100 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Atrophy of the spinal cord, Spastic gait, Decreased amplitude of sensory action potentials, Spast... |
OMIM:256840 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Autonomic bladder dysfunction, Ataxia, Leukodystrophy, Impote... |
OMIM:169500 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Spastic paraparesis, Palatal myoclonus, Cerebral cortical atrophy, Tr... |
OMIM:113610 |
Richards-Rundle Syndrome |
|
Sensorineural hearing impairment, Atrophy of the spinal cord, Ataxia, Hearing impairment |
OMIM:245100 |
Metachromatic Leukodystrophy |
|
Peripheral demyelination, Dystonia, Spastic tetraplegia, Mental deterioration, Ataxia, Decreased ... |
OMIM:250100 |
Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:617769 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Distal sensory impairment, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Neurodegeneration, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Mental deter... |
OMIM:615643 |
Kufor-Rakeb Syndrome |
|
Hypertonia, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraplegia, Ataxia, Aggressiv... |
OMIM:606693 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Distal sensory impairment, Axonal degeneration, Steppage gait, Gait disturbance |
OMIM:616155 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Atrophy of the spinal cord, Optic atrophy, Spastic paraparesis, Generalized myoclonic seizure, Lo... |
ORPHA:395 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Atrophy of the spinal cord, Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperi... |
ORPHA:2822 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Demyelinating peripheral neu... |
ORPHA:101077 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Neurodegeneration, O... |
OMIM:610951 |
Gordon Holmes Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hypogonadism, Infertility, Dementia, Ataxi... |
OMIM:212840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Vocal cord paralysis, Inability to walk, Axonal degeneration, Decreased number of peripheral myel... |
OMIM:615490 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Tremor |
ORPHA:98773 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity, Seizure, Abnormal cerebr... |
OMIM:618138 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Progressive microcephaly, Microcephaly, Rigidity, Spasticity, Hypokinesia, Hypo... |
OMIM:616211 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration, Low-set ears |
OMIM:162100 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Impaired distal tactile sensation, Decreased number of large periphera... |
ORPHA:99948 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic tetraparesis, Peripheral axonal neuropathy, Progressive spastic parap... |
ORPHA:496756 |
Dystonia 31 |
|
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... |
OMIM:619565 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cerebral atrophy, Irritability, Spasticity, Delayed myelination, Difficulty walking |
OMIM:617393 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Sensorineural... |
OMIM:616192 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Vestibular dysfunction, Dilated cardiomyopathy, Atrophy/Degeneration involving the spinal cord, A... |
ORPHA:70595 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Dystonia, Intention tremor, Ataxia, Akinesia, Cogwheel rigidity, Progressive ... |
OMIM:607454 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
Riboflavin Transporter Deficiency |
|
Progressive hearing impairment, Abnormal cranial nerve morphology, Abnormal autonomic nervous sys... |
ORPHA:97229 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Spastic tetraparesis, Cognitive impairment, Spastic paraplegia, Ankle clonus, Cerebellar atrophy,... |
ORPHA:171629 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Peripheral demyelination, Dystonia, Spastic tetraplegia, Irritability, Optic atrophy |
OMIM:618237 |
Diaminopentanuria |
|
Spasticity, Seizure, Ataxia, Neurodegeneration |
OMIM:222350 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Spasticity, Hypertension, Gait disturbance |
ORPHA:2820 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Spastic gait, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Hypoplasia of the corpus callos... |
OMIM:612319 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic par... |
OMIM:300894 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Ataxia, Axonal degeneration, Abnormality of periphera... |
ORPHA:88628 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... |
OMIM:608720 |
Periventricular Nodular Heterotopia 8 |
|
Delayed myelination, Spasticity |
OMIM:618185 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
Spastic Paraplegia 2, X-Linked |
|
Spastic gait, Dysmetria, Spastic paraparesis, Lower limb spasticity, Spastic paraplegia, Degenera... |
OMIM:312920 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Peripheral demyelination, Impaired proprioception, Sensory ataxia, Impaired vibration sensation i... |
OMIM:609033 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Cognitive impairment, Paralysis, Parkinsonism, Ataxia, Transient global amnesia, Pa... |
ORPHA:140989 |
Hereditary Motor And Sensory Neuropathy V |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:600361 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Spastic gait, Dysmetria, Lower limb spasticity, Spastic paraplegia, Ataxia, P... |
OMIM:610357 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment |
OMIM:606595 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Microcephaly, Gait ataxia, Telangiectasia of the skin, Neurodegeneration, Ret... |
ORPHA:438134 |
Spinocerebellar Ataxia Type 23 |
|
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... |
ORPHA:101108 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, Cranial nerve compression, Al... |
ORPHA:221091 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Photosensitive myoclonic seizure, Hypertonia, Sensorineural hearing impairment, Cerebral cortical... |
ORPHA:1192 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy of the spinal cord, Adrenocortic... |
ORPHA:139399 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Impaired distal tactile sensation, Decreased number of large periphera... |
OMIM:162400 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Microc... |
OMIM:616811 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Frequent falls, Spastic paraparesis, Progressive cerebellar ataxia, Lower limb hypertonia, Myoclo... |
ORPHA:254343 |
Adrenoleukodystrophy |
|
Incoordination, Dementia, Hypogonadism, Mental deterioration, Spastic paraplegia, Paraparesis, Tr... |
OMIM:300100 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Atrophy of the spinal cord, Diffuse axonal swelling, Abnormality of the basal ganglia, Cerebellar... |
ORPHA:86822 |
Spinocerebellar Ataxia Type 37 |
|
Cerebellar vermis atrophy, Sensorineural hearing impairment, Gait disturbance, Cogwheel rigidity,... |
ORPHA:363710 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Mental deterioration, Impaired vibration sensation in the lower limbs, Ataxia, Decr... |
OMIM:604360 |
Aminoacylase 1 Deficiency |
|
Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Generalized hypotonia, Hy... |
OMIM:609924 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Cognitive impairment, Cerebellar atrophy, Abnormal sperm morphology, Spastic dysarth... |
ORPHA:320391 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Cerebral calcification, Spastic tetraplegia, Sensorineural hearing impairment, Akinesia, Microcep... |
OMIM:619147 |
3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance |
ORPHA:67047 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... |
ORPHA:444099 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Cervical spinal cord atrophy, Spastic paraplegia, Tip-toe gait, Difficulty walking, Hypertonia |
OMIM:619621 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... |
OMIM:270550 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Resting tremor, Abnormal autonomic nervous system physiology, Limb dysto... |
OMIM:616840 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... |
ORPHA:98769 |
Roussy-Lévy Syndrome |
|
Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensation, Gait ataxia, ... |
ORPHA:3115 |
Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Dysmetria, Abnormal motor nerve conduction velocity, Decreas... |
OMIM:618404 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Demyelinating motor neuropathy, Upper motor neuron dysfunction, T... |
ORPHA:506353 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Myoclonic spasms, Abnormal muscle tone, Global brain atrophy, Optic neuropathy, Axonal degenerati... |
ORPHA:478029 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decreased nerve conduction vel... |
OMIM:256600 |
Spinocerebellar Ataxia Type 12 |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Intention tremor, Ataxia, Abnormal cerebellu... |
ORPHA:98762 |
Galloway-Mowat Syndrome 5 |
|
Spasticity, Peripheral demyelination, Ataxia, Brain atrophy |
OMIM:617731 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... |
OMIM:616948 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Impaired distal tactile sensation, Decreased distal sensory nerve action potential, Peripheral ax... |
OMIM:618400 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Spasticity, Ataxia |
OMIM:617854 |
Peroxisome Biogenesis Disorder 8B |
|
Cognitive impairment, Dysmetria, Cerebellar vermis atrophy, Spastic paraparesis, Ataxia, Leukodys... |
OMIM:614877 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Dysdiadochokinesis, Symmetric lesions of the basal ganglia, Rigidit... |
OMIM:609161 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Frequent falls, Upper motor neuron dysfunction, Prolonged brainstem auditory evoked poten... |
ORPHA:206443 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Cerebral atrophy, Dystonia, Sensorineural hearing impairment, Inability to walk, Generalized myoc... |
OMIM:616756 |
De Sanctis-Cacchione Syndrome |
|
Cerebral atrophy, Hypertonia, Global brain atrophy, Sensorineural hearing impairment, Olivopontoc... |
OMIM:278800 |
Leukodystrophy, Hypomyelinating, 5 |
|
Intention tremor, Loss of ability to walk, Inability to walk, Onion bulb formation, Leukodystroph... |
OMIM:610532 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Irritability, Clonus, Chorea, Delayed ... |
OMIM:613811 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Cerebral atrophy, Atrophy of the spinal cord, Dilated cardiomyopathy, Peripheral demyelination, L... |
ORPHA:79282 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Decreased number... |
ORPHA:320406 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Seizure, Brain atrophy, Broad-base... |
OMIM:206570 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
Ataxia-Pancytopenia Syndrome |
|
Dysmetria, Ataxia, Impaired vibration sensation in the lower limbs, Decreased nerve conduction ve... |
OMIM:159550 |
O'Sullivan-Mcleod Syndrome |
|
Atrophy of the spinal cord, Tremor |
ORPHA:99965 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:2926 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic par... |
ORPHA:329284 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Abolished vibration sense, Impaired tactile sensation, Impaired pain sensation, Impaired vibratio... |
ORPHA:435387 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Distal sensory impairment, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Spastic dysarthria, Head tremor, Conjunctival telangiectasia, Spinocerebel... |
ORPHA:95433 |
Dpagt1-Cdg |
|
Global brain atrophy, Cerebellar hypoplasia, Microcephaly, Epileptic spasm, Intracranial hemorrha... |
ORPHA:86309 |
Opticocochleodentate Degeneration |
|
Spastic tetraplegia, Cochlear degeneration, Optic atrophy, Hearing impairment |
OMIM:258700 |
Developmental And Epileptic Encephalopathy 91 |
|
Cerebral atrophy, Delayed myelination, Spasticity, Unsteady gait |
OMIM:617711 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potential amplitude, Decre... |
ORPHA:457205 |
Spinocerebellar Ataxia 35 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... |
OMIM:613908 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis, Demyelinating peripheral ... |
ORPHA:313772 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Facial palsy,... |
OMIM:616239 |
Leukodystrophy, Hypomyelinating, 3 |
|
Abnormal pyramidal sign, Global brain atrophy, Spastic paraparesis, Sudanophilic leukodystrophy, ... |
OMIM:260600 |
Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Memory impa... |
ORPHA:157941 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebe... |
OMIM:604213 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618184 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Impaired pain sensation, Impaired vibration sensation in the lower limbs, Hand paresthesia, Decre... |
OMIM:613640 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Cognitive impairment, Somatic sensory dysfunction, Paralysis, Progressive spastic... |
ORPHA:43 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Infertility, Upper limb spasticity, Dementia,... |
OMIM:614409 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration, Seizure, Ataxia |
ORPHA:3233 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Falls, Axonal degeneration |
OMIM:618811 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Vestibular dysfunction, Sensory axonal neuropathy, Dysmetria, Dilated cardiomyopathy, Sensorineur... |
OMIM:607459 |
Developmental And Epileptic Encephalopathy 14 |
|
Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Neuronal loss in central nervous syst... |
OMIM:614959 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Decreased amplitude of sensory action potentials, Demyelinating peri... |
ORPHA:99950 |
Developmental And Epileptic Encephalopathy 58 |
|
Delayed myelination, Inability to walk, Optic atrophy, Spastic diplegia |
OMIM:617830 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, Ataxia, Failure to thrive, CNS demyelination, Tremor |
OMIM:220111 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor |
OMIM:617917 |
Amyotrophy, Monomelic |
|
Cervical spinal cord atrophy |
OMIM:602440 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Caudate atrophy, Dystonia... |
ORPHA:52368 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremor, Spastic par... |
OMIM:615491 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Cerebral cortical atrophy, Abn... |
ORPHA:231169 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Cognitive impairment, Abnormal pyramidal sign, CNS hypomyelination, Limb dyst... |
OMIM:617560 |
Leukodystrophy, Hypomyelinating, 9 |
|
Dysmetria, Intention tremor, Ataxia, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... |
OMIM:616140 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Distal sensory impairment, Onion bulb formation |
OMIM:614455 |
Corticobasal Syndrome |
|
Dystonia, Akinesia, Limb dystonia, Limb myoclonus, Progressive extrapyramidal muscular rigidity, ... |
ORPHA:454887 |
Spinocerebellar Ataxia 10 |
|
Dysmetria, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Gait ataxia, Dysdi... |
OMIM:603516 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, Somatic... |
ORPHA:90117 |
Coasy Protein-Associated Neurodegeneration |
|
Cognitive impairment, Parkinsonism, Spastic paraparesis, Peripheral axonal neuropathy, Difficulty... |
ORPHA:397725 |
Developmental And Epileptic Encephalopathy 16 |
|
Cerebral atrophy, Dystonia, Hemiparesis, Delayed myelination, Abnormality of extrapyramidal motor... |
OMIM:615338 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Cognitive impairment, Spastic dysarthria, Spastic paraparesis, Cor... |
OMIM:616680 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:118300 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Akinesia, Microcephaly, Dand... |
OMIM:225790 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Sensory axonal neuropathy, Abnormal pyramidal sign, Spastic paraplegia, Steppage gait, Decreased ... |
OMIM:256850 |
Tangier Disease |
|
Peripheral demyelination, Impaired pain sensation, Impaired temperature sensation, Peripheral axo... |
OMIM:205400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased nerve conduction velocity, Decreased sensory nerve co... |
OMIM:201300 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Short stepped shuffling gait, Spastic dysarthria, Blepharospasm, Loss of abilit... |
ORPHA:240094 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Basal ganglia cysts, Global brain atrophy, Microcephaly, Spasticity, Hypokinesia, Hypoplasia of t... |
OMIM:609060 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Dysmetria, Ataxia, Decreased nerve conduction velocity, Distal sensory impairment, Optic atrophy |
OMIM:612674 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis, Optic atrophy |
ORPHA:27 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Spastic tetraplegia, Dysmyel... |
OMIM:609136 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Congestive heart failure, Sensorineural hearing impairment, Hypertrophic cardiomyopat... |
ORPHA:225 |
Epidermal Nevus Syndrome |
|
Atrophy of the spinal cord, Spinal cord compression, Spinal cord tumor, Progressive spastic parap... |
ORPHA:35125 |
Chédiak-Higashi Syndrome |
|
Atrophy of the spinal cord, Cerebellar atrophy, Inability to walk, Spastic paraplegia, Ataxia, De... |
ORPHA:167 |
Wild Type Abeta2M Amyloidosis |
|
Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve conduction velocit... |
ORPHA:85446 |
Postencephalitic Parkinsonism |
|
Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Diminished movement, Aki... |
ORPHA:97349 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Resting tremor, Shuffling gait, Akinesia, Lewy bodies, Rigidity, Cerebral cortical atro... |
ORPHA:411602 |
Spinocerebellar Ataxia Type 1 |
|
Abnormality of somatosensory evoked potentials, Dysmetria, Impaired proprioception, Abnormal nerv... |
ORPHA:98755 |
Hsd10 Disease, Infantile Type |
|
Cerebral atrophy, Spastic tetraparesis, Abnormality of the basal ganglia, Dystonia, Loss of abili... |
ORPHA:391428 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Hand tremor, Dystonia, Frequent falls, Shuffling gait, Parkinsonism, Spastic paraparesis, Bradyki... |
ORPHA:289560 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Sensory axonal neuropathy, Ab... |
ORPHA:139578 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... |
OMIM:604320 |
Intracranial Hypertension, Idiopathic |
|
Hypertension, Papilledema |
OMIM:243200 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers, Impaired temperature sensation, Pai... |
ORPHA:64752 |
Cerebrotendinous Xanthomatosis |
|
Cognitive impairment, Dystonia, Global brain atrophy, Aggressive behavior, Paraparesis, CNS demye... |
ORPHA:909 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Facial palsy, Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelin... |
OMIM:601170 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Abnormality of the basal ganglia, Generalized hypotonia, Hypokinesia, Hypotonia, Seizure |
OMIM:300816 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, D... |
ORPHA:363654 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Spastic gait, Dysmetria, Upper limb spasticity, Spastic paraparesis, Spastic ... |
OMIM:275900 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cerebral atrophy, Caudate atrophy, Ataxia, Limb dystonia, Gait ataxia, Hypertension, Myoclonus, S... |
ORPHA:363400 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Abnormal lower motor neuron morphology, High-frequency sensorineural hearing im... |
ORPHA:2590 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Dystonia, Delayed peripheral myelination, Obesity, Cerebral white matter atroph... |
ORPHA:464282 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Sensorineural hearing impairment, Ataxia, Generalized hypotonia, Hypokinesia, Hypotonia, Facial p... |
OMIM:614707 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... |
ORPHA:500166 |
Aceruloplasminemia |
|
Dystonia, Congestive heart failure, Blepharospasm, Craniofacial dystonia, Ataxia, Akinesia, Gait ... |
ORPHA:48818 |
Pelizaeus-Merzbacher Disease |
|
Cognitive impairment, Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic parapleg... |
OMIM:312080 |
Hsd10 Disease |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... |
ORPHA:391417 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Decreased sensory... |
OMIM:603472 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Photosensitive myoclonic seizure, Cochlear degeneration, Ataxia, Progressive sensorineural hearin... |
OMIM:172500 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hea... |
OMIM:304700 |
Supranuclear Palsy, Progressive, 1 |
|
Neurofibrillary tangles, Axial dystonia, Akinesia, Limb dystonia, Gait imbalance, Rigidity, Neuro... |
OMIM:601104 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dystonia, Spastic paraparesis, Ataxia, Spast... |
OMIM:614487 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cognitive impairment, Opisthotonus, Frequent falls, Generalized dystonia, Inability to walk, Gait... |
ORPHA:216866 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Spastic tetraparesis, Dystonia, Atonic seizure, Sensorineural hearing impairm... |
ORPHA:79097 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Sensorineural hearing impairment, Microcephaly, S... |
OMIM:300475 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Cognitive impairment, Dysto... |
ORPHA:280219 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Ataxia, Peripheral axonal neuropathy, Spastic paraplegia, CNS hypomyelination |
OMIM:619688 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Cerebral atrophy, Memory impairment, Dementia, Decreased number of peripheral myelinated nerve fi... |
OMIM:614116 |
Parkinson Disease 17 |
|
Akinesia, Rigidity, Resting tremor, Tremor |
OMIM:614203 |
Fetal Akinesia Deformation Sequence |
|
Akinesia, Hypokinesia, Posteriorly rotated ears, Dandy-Walker malformation |
ORPHA:994 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Progressive microcephaly, Sensorineural hearing impairment, Athetosis, Ataxia... |
OMIM:614559 |
Arthrogryposis Multiplex Congenita 5 |
|
Hand tremor, Dystonia, Prominent antihelix, Cardiac arrest, Akinesia, Microcephaly, Generalized h... |
OMIM:618947 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Spasticity, Myoclonus, Tremor |
OMIM:616494 |
Cednik Syndrome |
|
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysmetria, Ataxia, Decreased nerve conduction velocity, Dysdiadochokinesis |
OMIM:618356 |
Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles, Axial dystonia, Akinesia, Gait imbalance, Rigidity, Neuronal loss in bas... |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Eye of the tiger anomaly of globus pallidus, Global brain atrophy, Blepharospasm, Ataxi... |
OMIM:234200 |
Manganese Poisoning |
|
Dystonia, Abnormal globus pallidus morphology, Akinesia, Cogwheel rigidity, Gait disturbance, Pos... |
ORPHA:306682 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Dysmetria, Ataxia, Paresthesia, Abnormality of peripheral nerve conduction, Motor axonal neuropathy |
ORPHA:48431 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... |
OMIM:616204 |
Deafness, Autosomal Dominant 9 |
|
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... |
OMIM:601369 |
Multiple Sulfatase Deficiency |
|
Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Ataxia, Rapid neurologic deterior... |
OMIM:272200 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Agenesis of corpus callosum, Inability to walk, Microcephaly, Simplified gyral ... |
OMIM:618492 |
Lissencephaly 3 |
|
Agyria, Agenesis of corpus callosum, Ataxia, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia ... |
OMIM:611603 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Gait ataxia, Rigidity, Hypokinesia, Myoclonus, Tremor |
OMIM:605407 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Agenesis of corpus callosum, Onion bulb formation, Decreased sensory nerve conduction velocity, A... |
OMIM:218000 |
Hypermanganesemia With Dystonia 2 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Opisthotonus, Generalized dystonia, Oromandibular... |
OMIM:617013 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Dystonia, Optic atrophy, Sensorineural hearing impairment, Inability to walk,... |
OMIM:614739 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... |
OMIM:617633 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Dysmetria, Intention tremor, Ataxia, Leukodystrophy, Delayed CNS myelination, Head titubation, Ba... |
OMIM:618688 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal pyramidal sign, Cognitive impairment, Spastic paraparesis, Inability to walk, Ataxia, De... |
ORPHA:254930 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebellar atrophy, Cerebral dysmyelination, Dystonia, Microcephaly, ... |
OMIM:252650 |
Spinocerebellar Ataxia 1 |
|
Dysmetria, Impaired proprioception, Impaired vibratory sensation, Impaired distal tactile sensati... |
OMIM:164400 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Involuntary movements, Inability to walk, Ataxia,... |
OMIM:617804 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar dysplasia, Low-set ears, Dilated fourth ventricle, Cerebellar hypoplasia, Sensorineura... |
OMIM:617751 |
X-Linked Intellectual Disability, Najm Type |
|
Chorioretinal coloboma, Cerebellar hypoplasia, Sensorineural hearing impairment, Optic nerve hypo... |
ORPHA:163937 |
Gaucher Disease, Perinatal Lethal |
|
Opisthotonus, Low-set ears, Microtia, Akinesia, Microcephaly, Hypokinesia, Seizure |
OMIM:608013 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Cognitive impairment, Optic neuropathy, Spastic paraparesis, Onion bulb formation, Lower limb spa... |
ORPHA:320375 |
Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
Spinocerebellar Ataxia 34 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... |
OMIM:133190 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Hyperactivity, Microcephaly, Failure to thrive, Op... |
OMIM:274270 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Sensorineural hearing impairment, Hypotonia, Gen... |
OMIM:301790 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:607684 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral edema, Cerebral atrophy, Dystonia, Hearing impairment, Ataxia, Cardiomyopathy, Neurodege... |
OMIM:618321 |
Dopa-Responsive Dystonia |
|
Dystonia, Panic attack, Abnormality of extrapyramidal motor function, Tremor, Upper motor neuron ... |
ORPHA:255 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis... |
OMIM:618170 |
Alg11-Cdg |
|
Cerebral atrophy, Opisthotonus, Hearing impairment, Cerebral white matter atrophy, Ataxia, Limb h... |
ORPHA:280071 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Wolff-Parkinson-White s... |
OMIM:540000 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... |
ORPHA:85179 |
Acute Transverse Myelitis |
|
Priapism, Somatic sensory dysfunction, Orthostatic hypotension, Impaired proprioception, Impaired... |
ORPHA:139417 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Generalized hypo... |
OMIM:618476 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dysmetria, Dystonia, Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, Arm dyston... |
OMIM:601338 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Dysmetria, Intention tremor, Demyelinating peripheral neuropathy, Gait ataxia, Progressive cerebe... |
ORPHA:504476 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neurofibromas, Spinal neurofib... |
OMIM:162210 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Abnormal cerebral white matter morphology, Seizure, Multifocal hyperintensity of cerebral white m... |
ORPHA:136 |
Arachnoid Cyst |
|
Tetraparesis, Memory impairment, Inability to walk, Paresthesia, Paraparesis, Irritability, Socia... |
ORPHA:2356 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination, Cerebellar atrophy, Inability to walk, Optic atrophy |
OMIM:618324 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Cerebellar hypoplasia, Cerebral white matter atrophy, Generalized hypotonia, Hypokinesia, Seconda... |
OMIM:615042 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Dystonia, Axial dystonia, Blepharospasm, Akinesia, Progressive extrapyramidal muscular rigidity, ... |
ORPHA:240071 |
Huntington Disease |
|
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Dystonia, Inability to walk, Sei... |
ORPHA:399 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Primary amenorrhea, Steppage gait, Abnormality of peripheral nerves, Abnormal periph... |
ORPHA:168563 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cerebral atrophy, Ventricular fibrillation, Dystonia, Torsade de pointes, Cardiac arrest, Ventric... |
OMIM:616878 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Intention tremor, Sensorineural hearing impairmen... |
OMIM:617951 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Low-set ears |
OMIM:253290 |
Hsd10 Mitochondrial Disease |
|
Spastic tetraplegia, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Generalized h... |
OMIM:300438 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Small for gestation... |
OMIM:312170 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Unsteady gait, Generaliz... |
OMIM:614867 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Dysmetria, Head tremor, Gait ataxia, Peripheral axonal neuropathy, Titubation... |
ORPHA:98771 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis |
OMIM:617691 |
Spinocerebellar Ataxia Type 17 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Cerebellar a... |
ORPHA:98759 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Cerebral atrophy, Involuntary movements, Mental deterioration, Ataxia, Limb hypertonia, Unsteady ... |
ORPHA:442835 |
Glutaric Acidemia I |
|
Opisthotonus, Dystonia, Choreoathetosis, Symmetrical progressive peripheral demyelination, Rigidi... |
OMIM:231670 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Sensory axonal neuropathy, Generalized hypotonia, Hypokinesia, Severe muscular hypotonia, Abnorma... |
ORPHA:238329 |
Perry Syndrome |
|
Short stepped shuffling gait, Dystonia, Akinesia, Rigidity, Tremor |
OMIM:168605 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Axonal loss, Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduc... |
OMIM:118301 |
Intermediate Nemaline Myopathy |
|
Low-set ears, Hypokinesia, Severe muscular hypotonia, Facial palsy, Facial diplegia, Difficulty w... |
ORPHA:171433 |
Kanzaki Disease |
|
Cerebral atrophy, Telangiectasia of the oral mucosa, Sensorineural hearing impairment, Axonal deg... |
OMIM:609242 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Hypertension, Cerebral cortical atrophy, Seizure, Brain atrophy, Vertigo |
ORPHA:77296 |
Jaberi-Elahi Syndrome |
|
Cerebellar atrophy, Dysmetria, Dystonia, Agenesis of corpus callosum, Choreoathetosis, Inability ... |
OMIM:617988 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Sensorineural hearing impairment, Ataxia, Hypertension, Cardiomyopathy, Hypotonia |
ORPHA:3222 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Dementia, Subcortical dementia, Bradykine... |
OMIM:606159 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum, Dystonia, Choreoathetosis, Failure to thrive, Optic... |
OMIM:618238 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Neonatal hypotonia, Akinesia |
OMIM:618822 |
Non-Functioning Paraganglioma |
|
Paraganglioma, Pulsatile tinnitus, Sinus tachycardia, Congestive heart failure, Conductive hearin... |
ORPHA:94080 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Hypokinesia, Neonatal hypotonia, Agenesis of corpus callosum, Low-set ears |
OMIM:610498 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Facial palsy, Abnormal motor nerve conduction velocity |
OMIM:614399 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy |
OMIM:613909 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Sensory axonal neuropathy, Inability to walk, Optic disc pallor, Exaggerated startle response, Op... |
OMIM:609541 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressiv... |
ORPHA:225147 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Opisthotonus, Dystonia, Generalized dystonia, Choreoathetosis, Inability to walk, Partial agenesi... |
OMIM:619653 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Seizure, Gait ataxia, Generalized hypotonia, Optic disc pallor, Myoclonus, To... |
ORPHA:98768 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dystonia, Parkinsonism, Neurodegenera... |
OMIM:614298 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Hypertrophic ... |
ORPHA:1349 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Seizure |
OMIM:189800 |
Poliomyelitis |
|
Paralysis, Abnormal motor nerve conduction velocity, Fasciculations, Inability to walk, Paresthes... |
ORPHA:2912 |
Sneddon Syndrome |
|
Seizure, Hypertension, Intracranial hemorrhage, Vertigo, Tremor |
ORPHA:820 |
Friedreich Ataxia |
|
Impaired proprioception, Impaired vibratory sensation, Decreased amplitude of sensory action pote... |
OMIM:229300 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Po... |
ORPHA:250972 |
Arnold-Chiari Malformation Type Ii |
|
Somatic sensory dysfunction, Opisthotonus, Anxiety, Ataxia, Emotional lability, Paraparesis, Spas... |
ORPHA:1136 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... |
ORPHA:300573 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed myelination, Spasticity, Involuntary movements, Ataxia |
OMIM:615905 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Focal dystonia, Oculogyric crisis, Ataxia, Limb dystonia, Gait ataxia, Gene... |
ORPHA:101150 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dysmetria, Dystonia, Agenesis of corpus callosum, Intention tremor, Unsteady gait, Gait ataxia, N... |
ORPHA:453521 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Paralysis, Dystonia, Athetosis, Frontotemporal dementia, Amyotrophic lateral sclerosis |
OMIM:300857 |
Myopathy, Congenital, Compton-North |
|
Neonatal hypotonia, Akinesia |
OMIM:612540 |
Developmental And Epileptic Encephalopathy 17 |
|
Cerebral atrophy, Dystonia, Athetosis, Chorea, Delayed myelination |
OMIM:615473 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Cerebellar atrophy, Decreased body weight, Agenesis of corpus callosu... |
OMIM:614833 |
Foxg1 Syndrome |
|
Abnormal corpus callosum morphology, Decreased body weight, Dystonia, Progressive microcephaly, A... |
ORPHA:561854 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Dystonia, Failure to thrive, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Yuan-Harel-Lupski Syndrome |
|
Gait ataxia, Distal sensory impairment, Demyelinating peripheral neuropathy, Decreased nerve cond... |
OMIM:616652 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Dysmetria, Abnormal left ventricular function, Arrhythmia, Sensorineural hear... |
OMIM:618098 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Cerebellar atrophy, Fasciculations, Lo... |
OMIM:618598 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Hand tremor, Optic neuropathy, Spastic paraparesis, Steppage gait, Clasp-knife sign, Decreased mo... |
ORPHA:101076 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Agenesis of corpus callosum |
OMIM:166990 |
Methylcobalamin Deficiency Type Cble |
|
Abnormal cerebral white matter morphology, Microcephaly, Lower limb hypertonia, Hypertension, Hyp... |
ORPHA:2169 |
Joubert Syndrome 14 |
|
Low-set ears, Ataxia, Dandy-Walker malformation, Coloboma, Generalized hypotonia, Hypertension, P... |
OMIM:614424 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Sensorineural hearing impairment, Abnormal autonomic nervous system physiolog... |
ORPHA:466934 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Dystonia, Painless fractures due to injury, Ataxia, Decreased number of peripheral myelinated ner... |
OMIM:256810 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Trophic changes related to pain, Abnormality of the autonomic nervous system, Impaired distal tac... |
ORPHA:36386 |
Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Dystonia, Neurodegeneration, Infantile axial hypotonia, Exaggerated startle res... |
ORPHA:309246 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Cerebral atrophy, Opisthotonus, Peripheral demyelination, Myoclonic spasms, Spastic ... |
OMIM:252160 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebral atrophy, Cerebellar atrophy, Neurofibrillary tangles, Dystonia, Dysmetria, Dysdiadochoki... |
OMIM:610217 |
Unilateral Polymicrogyria |
|
Epistaxis, Spastic tetraplegia, Perisylvian polymicrogyria, Status epilepticus, Focal-onset seizu... |
ORPHA:268943 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Demy... |
ORPHA:298 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Cerebral atrophy, Abnormal pyramidal sign, Spasticity, Delayed myelination, Babinski sign |
ORPHA:397951 |
Xq21 Microdeletion Syndrome |
|
Dysdiadochokinesis, Conductive hearing impairment, Sensorineural hearing impairment, Anterior hyp... |
ORPHA:1435 |
Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Spastic tetraparesis, Dystonia, Neurodegeneration, Hypotonia, Generalized hypot... |
OMIM:272750 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, S... |
ORPHA:1187 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Delayed myelination, Choreoathetosis, Decreased nerve conduction velocity |
ORPHA:319514 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Intention tremor, Sensorineural hearing impairment, Ataxia, Generalized hypot... |
OMIM:614871 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hyperactivity, Microcephaly, Failure to thrive, Delayed myelination,... |
OMIM:615286 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebral atrophy, Cerebellar atrophy, Dystonia, Athetosis, Irritability, Spasticity, Delayed myel... |
OMIM:617132 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Optic disc pallor, D... |
OMIM:601152 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Rigidity, Clonus, Neuronal loss in central nervous system, Delayed myelination,... |
OMIM:614498 |
Waardenburg Syndrome, Type 4A |
|
Leukodystrophy, Spastic paraparesis, Aganglionic megacolon, Ataxia |
OMIM:277580 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Spasticity, Delayed myelination, Hyper... |
OMIM:615095 |
Developmental And Epileptic Encephalopathy 82 |
|
Cerebral atrophy, Spastic paraparesis, Inability to walk, Spastic tetraplegia |
OMIM:618721 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cerebral atrophy, Pulmonary arterial hypertension, Generalized hypotonia, Hypotonia, Abnormal pos... |
OMIM:614857 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, CNS hypomyelination, Microcephaly, Exaggerated startle response, Delayed myel... |
OMIM:618367 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Frequent falls, Vocal cord paresis, Impaired pain sensation, Head tremor, Ina... |
ORPHA:99949 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Axonal loss, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system ... |
OMIM:614575 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Cognitive impairment, Oligomenorrhea, Ankle clonus, Cerebellar atrophy, Unsteady gai... |
ORPHA:412057 |
Coach Syndrome 1 |
|
Dystonia, Portal hypertension, Ataxia, Coloboma, Generalized hypotonia, Optic disc pallor, Hypert... |
OMIM:216360 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Abnormal pyramidal sign, Dysmetria, Temporal optic disc pallor, Impaired vibratory sensation, Spa... |
ORPHA:459056 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Cerebral atrophy, Abnormality of the basal ganglia, Dystonia, Sensorineural hearing impairment, I... |
OMIM:612073 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Spastic tetraplegia, Global brain atrophy, Athetosis, Limb dystonia, Temporal... |
ORPHA:621 |
Methanol Poisoning |
|
Abnormal corpus callosum morphology, Inflammatory arteriopathy, Abnormal caudate nucleus morpholo... |
ORPHA:31825 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Agenesis of corpus callosum, Low-set ears, Basal ganglia cysts, Pulmonary arterial hypertension, ... |
OMIM:613623 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Hypertension, Hearing impairment |
OMIM:613355 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Cupped ear, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Po... |
OMIM:613870 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebral dysmyelination, Cerebellar dysplasia, Atonic seizure, Generalized myoclonic seizure, Abn... |
ORPHA:101070 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Asparagine Synthetase Deficiency |
|
Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Simplified gyral patte... |
OMIM:615574 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination, Spastic paraparesis, Inability to walk, Mental deterioration, Lower limb spa... |
ORPHA:280229 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Spastic tetraplegia, Athetosis, Ataxia... |
OMIM:617710 |
Peho Syndrome |
|
Cerebellar atrophy, Progressive microcephaly, Peripheral dysmyelination, Pachygyria, Hypoplasia o... |
OMIM:260565 |
Choreoacanthocytosis |
|
Aggressive behavior, Phonic tics, Apathy, Hair-pulling, Hyperkinetic movements, Impaired vibrator... |
ORPHA:2388 |
Vici Syndrome |
|
Dilated cardiomyopathy, Agenesis of corpus callosum, Low-set ears, Congestive heart failure, Schi... |
OMIM:242840 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Tinnitus, Second degree atrioventricular block, Athetosis, Focal myoclonic seizure, Seizure, Spas... |
ORPHA:369929 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Lower limb spasticity, Ataxia, Dystonic gait, Cerebral hypomyelination, Abnorm... |
ORPHA:280210 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction |
|