| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... |
ORPHA:329466 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Dystonia 25 |
|
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia |
OMIM:615073 |
| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Focal dystonia, Torticollis |
OMIM:612406 |
| Primary Dystonia, Dyt17 Type |
|
Generalized dystonia, Torticollis, Cerebral cortical atrophy, Craniofacial dystonia |
ORPHA:370103 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Gait ataxia, Limb dystonia, Torticollis, Hemidystonia, Torsion dystonia, Slender build, Generaliz... |
OMIM:128101 |
| Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Oromandibular dys... |
OMIM:602629 |
| Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
| Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
| Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
| Spastic Ataxia With Congenital Miosis |
|
Hemiplegia/hemiparesis, Spastic ataxia, Seizure, Ataxia |
ORPHA:1182 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Dystonia, Difficulty walking, Laryngeal dystonia, Spastic paraplegia |
OMIM:619681 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... |
ORPHA:98765 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607734 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... |
ORPHA:208981 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia |
OMIM:611694 |
| Dystonia 32 |
|
Limb dystonia, Torticollis, Brain atrophy, Laryngeal dystonia |
OMIM:619637 |
| Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
| Dystonia 30 |
|
Writer's cramp, Torticollis, Diffuse cerebral atrophy, Leg dystonia, Loss of ambulation, Oromandi... |
OMIM:619291 |
| Angelman syndrome (Type 2) |
|
Truncal ataxia, Seizure |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Truncal ataxia, Seizure |
DECIPHER:4 |
| Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
| Dystonia 33 |
|
Spasticity, Limb dystonia, Axial dystonia, Axial hypotonia, Dystonia |
OMIM:619687 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Paresthesia, Decreased motor nerve... |
OMIM:601098 |
| Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
| Primary Dystonia, Dyt21 Type |
|
Blepharospasm, Paroxysmal dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, L... |
ORPHA:306734 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
| Amyotrophic Dystonic Paraplegia |
|
Bowel incontinence, Urinary incontinence, Dystonia |
OMIM:105300 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Dystonia 23 |
|
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Torticollis, Gait disturbance, Head tre... |
OMIM:614860 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Hypert... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Sensory axonal neuropathy, Steppage gait, Shoulder girdle muscle atrophy, Clus... |
ORPHA:98856 |
| Primary Dystonia, Dyt6 Type |
|
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Craniofacial dystonia, Laryngeal dys... |
ORPHA:98806 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Distal amyotrophy, Upper limb muscle weakness, Distal sensory i... |
OMIM:607791 |
| Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bowel incontinence, Enur... |
ORPHA:84085 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Distal lower limb amyotrophy, Axonal regeneration, Distal upper limb amyotr... |
OMIM:615185 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Ataxia, Hypertonia |
ORPHA:2672 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Thenar muscle atrophy, Foot dorsiflexor... |
OMIM:606483 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Tip-toe gait, Axonal degeneration, Decreased motor nerve con... |
OMIM:614436 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
| Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
| Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
| Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... |
OMIM:619565 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
| Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy |
OMIM:182815 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Decrea... |
OMIM:614895 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired distal vibration sensation, Onion bulb formation, Fatty replacement of skeletal muscle, ... |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... |
OMIM:607706 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Flexion contracture, Peripheral axonal degeneration, Clusters of axona... |
ORPHA:101097 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Peripheral axonal neuropathy, Cogwheel rigid... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... |
OMIM:607731 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Muscle fiber atrophy, Sensory axonal neuropathy, Tremor, Focal dystonia,... |
ORPHA:309169 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Distal sensory impairment, Ataxia |
OMIM:212710 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Failure to thrive in infancy, Impaired vibration sensation at ankles, Abnormality of... |
ORPHA:90103 |
| Developmental And Epileptic Encephalopathy 38 |
|
Generalized hypotonia, Dystonia, Ataxia, Hypertonia |
OMIM:617020 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Abnormal nerve conduction velocity, Motor conduction block, Paresthe... |
ORPHA:2932 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia |
OMIM:118800 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Bowel incontinence, Urinary incontinence |
OMIM:236690 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
| Spinocerebellar Ataxia 41 |
|
Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Skeletal muscle atrophy, Dystonia, Peripheral demyelination |
OMIM:616684 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal amyotrophy... |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, De... |
OMIM:608340 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Axona... |
OMIM:302800 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Flexion... |
OMIM:609260 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal muscle weakness, Weakness of orbicularis oculi muscle, Facial palsy, Ataxia, EMG: myopat... |
OMIM:500002 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Gait ataxia, Onion bulb formation, Generalized hypotonia, Dys... |
ORPHA:98916 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Dysmetria, Ataxia, Babinski sign |
OMIM:617584 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Seizure, Ataxia |
OMIM:619061 |
| Striatonigral Degeneration, Infantile |
|
Failure to thrive, Spasticity, Choreoathetosis, Dystonia |
OMIM:271930 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
| Amyotrophy, Hereditary Neuralgic |
|
Short stature, Epicanthus, Blepharophimosis, Peripheral axonal degeneration, Brachial plexus neur... |
OMIM:162100 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Seizure, Ataxia |
ORPHA:85338 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... |
OMIM:145900 |
| Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia |
OMIM:617769 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118200 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Cerebral cortical atrophy, Inability to walk, Axonal loss, Rigidity, Ataxia, ... |
OMIM:617672 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Diffuse peripheral demyelination, Axonal los... |
ORPHA:206594 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
| Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal lower limb a... |
OMIM:609311 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... |
OMIM:601596 |
| Null Syndrome |
|
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... |
ORPHA:280234 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Hypotonia |
ORPHA:1216 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Abnormal autonomic nervous system physiology, Urinary urgency |
OMIM:156310 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Gliosis, Amyotrophic lateral sclerosis, Athetosis, Dystonia |
OMIM:300857 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Neon... |
OMIM:605253 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bo... |
ORPHA:2704 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Tip-toe gait, Spastic gait, Spastic paraplegia, Unsteady gait, Dystonia |
ORPHA:320411 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118220 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Iron accumulation in substantia nigra, Generalized dystonia, Cerebellar vermis atrophy, Inability... |
OMIM:619389 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:605588 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia |
ORPHA:31709 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Fiber ... |
OMIM:620011 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Decreased activity of mitochondrial complex III, Decreased activity of mito... |
OMIM:616209 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Upper limb amyotrophy, Decreased motor nerve conduction velocity, Demyeli... |
ORPHA:99953 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
| Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Dystonia |
OMIM:614820 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia |
ORPHA:1397 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Optic atrophy, Dysesthesia, Hypertonia, Unsteady gait, Gait ataxia, Sp... |
OMIM:614877 |
| Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Rigidity, Cerebellar atrophy, Dystonia |
ORPHA:385 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/remye... |
OMIM:162500 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Sensory ataxia, Dystonia, Difficulty walking |
OMIM:619661 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Tip-toe gait, Unsteady gait, Dystonia, Spastic paraplegia |
OMIM:615030 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait |
OMIM:601238 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia |
ORPHA:94122 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Aggressive behavior, Deeply set eye, Self-injurious behavior, Myoclonus, Hypertonia, Limb tremor,... |
OMIM:300699 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Distal arthrogryposis, Onion bulb formation, Axonal loss, Decreased motor nerve conduction veloci... |
OMIM:611228 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Pe... |
OMIM:208920 |
| Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Impaired distal vibration sensation, Onion bulb formation, Optic atrophy, Lower limb muscle weakn... |
OMIM:615035 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Cachexia, Ataxia, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Decreased body weight, Spastic gait, Cogwheel rigidity, Hypertonia, Dystonia |
OMIM:618284 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
| Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... |
OMIM:610100 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure |
OMIM:612437 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Spasticity, Motor axonal neuropathy, Inability to walk, Ataxia, Type 1 musc... |
OMIM:618276 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:618184 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Rigidity, Gait disturbance, Tremor, Cerebral atrophy, Dystonia |
OMIM:600116 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Mast Syndrome |
|
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... |
OMIM:248900 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal sensory... |
ORPHA:99944 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Torsion dystonia, Tremor |
OMIM:314250 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Spasticity, Athetosis |
OMIM:257800 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Action myoclonus |
OMIM:616230 |
| Spastic Paraplegia Type 7 |
|
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Cerebral cortical a... |
ORPHA:99013 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Spastic dysarthria, Dysmetria... |
ORPHA:314603 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Striatonigral Degeneration, Childhood-Onset |
|
Loss of ambulation, Hypotonia, Craniofacial dystonia, Hypertonia, Steppage gait, Unsteady gait, D... |
OMIM:617054 |
| Dystonia With Ringbinden |
|
Chorea, Gait disturbance, Dystonia |
OMIM:224550 |
| Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:605280 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Ataxia |
OMIM:117210 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia |
OMIM:158500 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Distal amyotrophy, Axonal degeneration/regeneration, Distal sensory im... |
OMIM:607736 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Spastic gait |
OMIM:617133 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Ravine Syndrome |
|
Spasticity, Decreased body weight, Abnormal brainstem morphology, Abnormal auditory evoked potent... |
ORPHA:99852 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Anxiet... |
ORPHA:401901 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Generalized hypotonia, CNS demyelination, Spastic tetraparesis, Hypotonia, Decreased... |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Lower limb muscle weakness, Gait disturbance, Steppage gait, Foot dorsiflexo... |
OMIM:616155 |
| Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, Hypotonia, Dystonia |
OMIM:613720 |
| Siddiqi Syndrome |
|
Urinary incontinence, Limb dystonia |
OMIM:618635 |
| Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Rigidity, Writer's cramp, Torticollis, Gait disturbance, Gener... |
ORPHA:98759 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Diff... |
OMIM:500003 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Axonal regeneration, Per... |
OMIM:605285 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary incontinence, Tremor, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:600363 |
| Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Cerebral cortical atrophy, Abnormal substantia nigra morphology, Abnormality... |
ORPHA:98756 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety |
OMIM:141500 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Ataxia, Positive Romberg sign, Dysmetria, Hypotonia, Dystonia, Loss ... |
OMIM:618088 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired distal vibration sensation, Onion bulb formation, Flexion contracture, Lower limb muscle... |
OMIM:607684 |
| Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Cerebral cortical atrophy, Generalized hypotonia, Neuronal loss in central nervous sy... |
OMIM:614959 |
| Darier Disease |
|
Skin vesicle, Plantar pits, Acrokeratosis, Abnormality of the nail, Macule, Hypermelanotic macule... |
ORPHA:218 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Distal amyotrophy, Distal sensory impairment, Segmental peri... |
OMIM:311070 |
| Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Optic atrophy, Dysphagia, Bowel incontinence, Dystonia |
OMIM:618868 |
| Oculopharyngeal Muscular Dystrophy |
|
Progressive ptosis, Gait disturbance, Ptosis, Limb muscle weakness, Facial palsy |
OMIM:164300 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Writer's cramp, Paroxysmal dystonia |
ORPHA:163727 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Gait disturbance, Dystonia, Spastic ataxia, Spastic paraplegia |
OMIM:108600 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Abolished vibration sense, Motor axonal neuropathy, Axonal loss, Decreased motor nerv... |
OMIM:620068 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... |
ORPHA:216873 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Distal lower... |
OMIM:600882 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... |
OMIM:615643 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Neck flexor weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature, ... |
ORPHA:457050 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... |
ORPHA:95434 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Upper limb spasticity, Dystonia, Lower limb spasticity, Spastic gait |
OMIM:619966 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Short stature, Decreased motor nerve conduction velocity, Peripheral axonal degeneration,... |
OMIM:604168 |
| Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
| Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607152 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Dysdiadochokinesis, Dysmetria, Axial dystonia, Head tremor, Action tre... |
OMIM:604326 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Hypotonia, Loss of ambulation, Lower limb spasticity, Cerebral atrophy... |
OMIM:617916 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
| Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Dystonia |
OMIM:615473 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
| Krabbe Disease |
|
Optic atrophy, Progressive spasticity, CNS demyelination, Diffuse cerebral atrophy, Autoimmune th... |
OMIM:245200 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Bowel incontinence |
OMIM:176780 |
| Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia |
OMIM:604432 |
| Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604805 |
| Huntington Disease-Like 2 |
|
Chorea, Cerebral cortical atrophy, Gait disturbance, Caudate atrophy, Dystonia |
ORPHA:98934 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... |
OMIM:617831 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Failure to thrive, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Gait disturbance, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary incontinence, Urinary urgency, Dystonia, Urinary bladder sphincter dysfunction |
OMIM:607565 |
| Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
| Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... |
ORPHA:276435 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Low back pain, Urinary urgency, Dysp... |
OMIM:603563 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy, Generalized hypotonia, Dystonia |
OMIM:616763 |
| Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Torticollis, Hand tremor, Torsion dystonia, Oromandibular dystonia |
OMIM:602124 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Alopecia, Skin vesicle, Papule, Hypoplastic fingernail, Myopathy, Aplasia/Hypopla... |
ORPHA:257 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Knee flexion contracture, Decreased muscl... |
OMIM:615490 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Generali... |
ORPHA:99657 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... |
OMIM:162350 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Inability to walk, Nemalin... |
OMIM:256030 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... |
OMIM:605407 |
| Glutathionuria |
|
Urinary incontinence, Glutathionuria, Tremor, Action tremor, Constipation |
OMIM:231950 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Ataxia, Tremor, Peripheral axonal neuropathy... |
OMIM:615957 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Urinary incontinence, Optic atrophy, Hand tremor, Dysphagia, Bowel incontinence, Dystonia |
ORPHA:289560 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence, Dystonia |
OMIM:604802 |
| Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Facial myokymia, Spastic dysarthria, Impaired distal tactile sensation, Diffuse cere... |
ORPHA:101111 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Spasticity, Deeply set eye, Self-injurious behavior, Inability to walk, Oculogyric crisis... |
OMIM:614254 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Proximal muscle weakness, Generalized amyotrophy, Bulbar palsy, Abnormal lo... |
ORPHA:275872 |
| Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy... |
OMIM:616981 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... |
ORPHA:88628 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, P... |
OMIM:254110 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Lower limb muscle weakness, Torticollis, Ataxia, Tremor, Peripheral axon... |
OMIM:607317 |
| Spastic Paraplegia Type 2 |
|
Bowel incontinence, Optic atrophy, Spastic/hyperactive bladder |
ORPHA:99015 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy, Dystonia, Peripheral axonal neuropathy, Ataxia |
OMIM:619196 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse eyebrow, Skin vesicle, Sparse scalp hair, Leukonychia, Sparse axillary h... |
OMIM:613102 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Proximal muscle weakness, High... |
OMIM:160500 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dysdiadochokinesis, Ataxia, Spastic paraplegia, Spastic tetraparesis, Dysmyelinati... |
OMIM:612319 |
| Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Impaired vibration sensation at ankles, Spastic gait |
ORPHA:401849 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Somatic sensory dysfunction, Muscle fiber splitting, Increased variability in muscle fiber diamet... |
OMIM:616924 |
| Spinocerebellar Ataxia 30 |
|
Ataxia |
OMIM:613371 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Rigidity, Cerebellar atrophy, Gliosis |
OMIM:143100 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Multiple joint contractures, Inability to walk, Writer's cramp... |
OMIM:128100 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Dystonia, Spastic tetraplegia |
OMIM:251280 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... |
OMIM:611302 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... |
OMIM:158600 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Dermal atrophy, Alopecia of scalp, Onychogryposis... |
OMIM:617294 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Milia, Localized skin lesion, Small nail, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic ... |
ORPHA:79410 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Difficulty walking, Hypertonia, Distal amyotrophy, Arm dystonia, Spasticity, Spastic diplegia, Sp... |
OMIM:205100 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:604563 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Upslanted palpebral fissure |
OMIM:620086 |
| Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:611945 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Athetosis, Parkinsonism |
OMIM:615483 |
| Pettigrew Syndrome |
|
Gait ataxia, Spasticity, Deeply set eye, Self-injurious behavior, Choreoathetosis |
OMIM:304340 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... |
OMIM:605820 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Weight loss, Generalized hypotonia, Cachexia, Failure to thrive, Hypotonia, Axial hy... |
OMIM:612075 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:602066 |
| Tetanus |
|
Elevated urinary norepinephrine, Abnormal autonomic nervous system physiology, Rigors, Abdominal ... |
ORPHA:3299 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:616187 |
| Myasthenic Syndrome, Congenital, 18 |
|
Knee flexion contracture, Ptosis, Difficulty walking, Ataxia |
OMIM:616330 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia |
OMIM:260970 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Axonal loss, Gait disturbance, Caudate atrophy, Cerebral atrophy, Abnormal upper moto... |
OMIM:221770 |
| Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Cerebral atrophy, Spastic paraplegia |
OMIM:610181 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal sensory i... |
OMIM:601382 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Generalized hypotonia, Hypotonia, Skeletal muscle atrophy, Dystonia, Hypertrichosis |
OMIM:618244 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
| Dystonia 9 |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
OMIM:601042 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Titubation, Abnormality of extrapyramidal motor function, At... |
ORPHA:280219 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Cerebral atrophy, Cerebellar atrophy, Dystonia |
OMIM:617899 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal... |
OMIM:601455 |
| Perineural Cyst |
|
Urinary incontinence, Hip pain, Urinary bladder sphincter dysfunction, Lower limb pain, Foot pain... |
ORPHA:65250 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Spasticity, Spastic ataxia, Tip-toe gait, Titubation, Torticollis, Intention... |
ORPHA:397946 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyramidal movement... |
ORPHA:382 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Scissor gait, Tremor, Dystonia, Loss of ambulation, Cerebral atrophy, Oromandibular d... |
ORPHA:521406 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Intention tremor, Babinski sign, Action tremor, F... |
ORPHA:314978 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Optic atrophy, Inability to walk, Ataxia, Failure to thrive, Dysmetria, Hypotonia, Dy... |
OMIM:617954 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amy... |
OMIM:105550 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Deeply set eye, Intention tremor, Ataxia |
ORPHA:137831 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Somatic sensory dysfunction, Myelitis, Peripheral demyel... |
ORPHA:71211 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Nephrotic syndrome, ... |
ORPHA:330001 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Hand muscle atrophy, Failure to thrive, Weakness of facial musculature, Foot dorsiflexor w... |
OMIM:618811 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis, Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Proximal muscle weakness, Gowers sign, Facial palsy, Autophagic vacuoles,... |
ORPHA:97240 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Dystonia, Spastic tetraplegia |
OMIM:618646 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Ataxia, Neuronal loss in central nervous system, Tremor, Cerebral atrophy, Dystonia |
OMIM:615924 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Rigidity, Limb dystonia, Limb ataxia, Head tremor, Kinetic tremor, Dystonia |
ORPHA:101109 |
| Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100994 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Brain atrophy, Generalized amyotrophy, Shoulder girdle muscle weakness, Gait disturbance, Pelvic ... |
OMIM:167320 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Gowers sign, Loss of ability to walk in early childhood, Decreased activity of... |
OMIM:609560 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Focal dystonia, Dysmetria, Cerebellar atroph... |
OMIM:605361 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Spasticity, Flexion contracture, Spastic tetraplegia, Progressive spasticity, Failure to thrive, ... |
OMIM:618404 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Lower limb muscle weakness,... |
OMIM:614487 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammator... |
ORPHA:611 |
| Adult Krabbe Disease |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Peripheral demyelinatio... |
ORPHA:206448 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Distal amyotrophy, Decrea... |
OMIM:615376 |
| Alexander Disease Type I |
|
Spasticity, Cachexia, Generalized hypotonia, Ataxia, Failure to thrive, Hypotonia |
ORPHA:363717 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Generalized hypotonia, Ataxia, Hypotonia, Slender build |
OMIM:613662 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Back pain, Facial diplegia, Myalgia, Decreased nerve conduction velocity, T... |
ORPHA:329478 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Spasticity, Athetosis, Dystonia, Ataxia |
OMIM:612951 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deeply set eye, Decreased body weight, Ataxia, Numerous pigmented freckles, Freckling, Tremor |
OMIM:278760 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence, Dystonia |
ORPHA:157946 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Childhood Disintegrative Disorder |
|
Bowel incontinence, Urinary incontinence |
ORPHA:168782 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Impaired vibration sensation in the lower limbs, Spasticity, Deeply set eye, Postural tremor, Spa... |
ORPHA:447896 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
| Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence, Decreased motor nerve conduction velocity, Episodic vomiting, Decreased sen... |
OMIM:603472 |
| Dowling-Degos Disease |
|
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... |
ORPHA:79145 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Urinary incontinence, Postural tremor |
ORPHA:100988 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Urinary incontinence, Optic nerve hypoplasia, Constipation, Dysphagia, Bowel incontinence |
OMIM:615033 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Spasticity, Fasciculations, Deeply set eye, Ataxia, Hypertelorism... |
ORPHA:464282 |
| Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:613096 |
| Nemaline Myopathy 4 |
|
Flexion contracture, High palate, Gowers sign, Type 1 muscle fiber predominance, Facial diplegia,... |
OMIM:609285 |
| Dystonia 21 |
|
Torticollis, Blepharospasm, Laryngeal dystonia |
OMIM:614588 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal nerve conduction velocity, Postural tremor, To... |
OMIM:619862 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
| Spinocerebellar Ataxia Type 11 |
|
Gait imbalance, Progressive cerebellar ataxia, Dystonia, Difficulty walking |
ORPHA:98767 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Proximal muscle weakness, Abnormal peripheral nervous system morphology, ... |
OMIM:609524 |
| Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Dysdiadochokinesis, Choreoathetosis, Babinski sign, Intention tremor |
ORPHA:98890 |
| Huntington Disease-Like 2 |
|
Chorea, Inertia, Weight loss, Rigidity, Apathy, Action tremor, Anxiety, Irritability, Dystonia, B... |
OMIM:606438 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
| Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Optic atrophy, Generalized hypotonia, Cerebral atrophy, Dystonia, Severe mus... |
OMIM:615338 |
| Developmental And Epileptic Encephalopathy 69 |
|
Corpus callosum atrophy, Cerebral cortical atrophy, Spastic tetraplegia, Inability to walk, Axial... |
OMIM:618285 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Spinocerebellar Ataxia Type 1 |
|
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... |
ORPHA:98755 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... |
ORPHA:401768 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Impaired distal vibration sensation, Motor conduction block, Denervati... |
ORPHA:99948 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Melanocytic nevus, Deeply set eye, Truncal obesity |
OMIM:300471 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Truncal ataxia, Appendicular hypotonia, Limb ataxia, Ataxia, Broad-based gait, Dysme... |
OMIM:616127 |
| Leber Optic Atrophy And Dystonia |
|
Spasticity, Upper motor neuron dysfunction, Athetosis, Dystonia, Bradykinesia |
OMIM:500001 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Urinary incontinence, Torticollis, Optic atrophy, Dysphagia |
OMIM:619686 |
| Salla Disease |
|
Spasticity, Athetosis, Ataxia, Inability to walk |
OMIM:604369 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
