Gene Summary

Name:
galactosylceramidase
Synonyms:
A930008M05Rik,  Gacy,  2310068B06Rik,  galactocerebrosidase

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Combined SHIRPA and Dysmorphology

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Hind Leg and Hip

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Galc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Galc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Inability to walk, Spasticity, Scissor gait OMIM:615685
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Null Syndrome
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Demyel... ORPHA:280234
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Scissor gait, Spasticity, Clonus, Spastic paraplegia ORPHA:101004
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Peripheral axonal degeneration, Difficulty walking, Axonal degenerat... OMIM:302800
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Leukodystrophy, Tip-t... OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Hyperlipide... OMIM:604484
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Muscle weakness ORPHA:139436
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Difficulty walking OMIM:608634
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Peripheral axonal neuropat... ORPHA:497764
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, ... OMIM:607734
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Broad-based gait, Gait ataxia, Vocal cord paresis, Loss of amb... OMIM:614895
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Progressive spasticity, Abnormal ... ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num... OMIM:180800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Slurred speech ORPHA:98766
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Cerebral atrophy, Torticollis, Erratic myoclonus, Fasciculations, Ch... ORPHA:397946
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Babinski sign, Hypertonia, Astrocytosis, Spasticity, Spastic tetraparesis, Gait di... ORPHA:225154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy... ORPHA:401820
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Steppage gait, Difficulty walking, Decreased compound muscle action potential ampl... OMIM:618279
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Steppage gait, D... ORPHA:206594
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Per... OMIM:615957
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia, Involuntary movements OMIM:620245
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns... ORPHA:423275
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Progres... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Decreased sensory nerve conduction veloc... OMIM:609260
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati... OMIM:620378
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Apraxia, Abnormality of extrapyramidal motor function, Astrocyto... ORPHA:100070
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination DECIPHER:59
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Spastic paraplegi... OMIM:312080
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ... OMIM:208920
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weak... ORPHA:641
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Spastic tetraparesis, Cerebellar atrophy, Spastic at... ORPHA:496756
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Babinski sign, Apraxia, Abnormal upper motor... OMIM:221770
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Steppage gait, Difficulty walking, Axonal degeneration/regeneration, Onion bulb formation, Segmen... OMIM:606483
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi... OMIM:601098
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Axonal degeneration, Fasciculations, Decreased motor nerve conductio... OMIM:614436
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Paroxysmal Extreme Pain Disorder
Tachycardia, Impaired pain sensation, Bradycardia OMIM:167400
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Steppage gait, Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelina... OMIM:118210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Paraparesis, Extrapy... OMIM:105550
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Fall... ORPHA:2932
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Spasticity, Gliosis, Symmetric peripheral demyelination, Autonomic erectile dysfun... OMIM:169500
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Hypertonia, Unsteady gait, Decreased number of peripheral myelinated nerve fibers, ... ORPHA:2386
Neuromyelitis Optica Spectrum Disorder
Myelitis, Paraplegia, Optic neuritis, Neuronal loss in central nervous system, Functional abnorma... ORPHA:71211
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Focal Cortical Dysplasia, Type Ii
Focal white matter lesions, Cortical dysplasia, Astrocytosis, Hemimegalencephaly, Focal cortical ... OMIM:607341
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, CNS demyel... OMIM:249900
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Spinocerebellar Ataxia Type 25
Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Gait ataxia, Diffuse cerebellar... ORPHA:101111
Sandhoff Disease, Adult Form
Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dysto... ORPHA:309169
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Lower limb spasticity, Periphera... OMIM:615035
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Gait disturbance, Frequent falls... OMIM:611228
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Inability to walk OMIM:615268
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens... ORPHA:101097
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Ankle weakness, Generalized muscle weakness, Progressive... ORPHA:98912
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Axonal degenerati... OMIM:601596
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Hypertrophic Neuropathy Of Dejerine-Sottas
Steppage gait, Decreased sensory nerve conduction velocity, Broad-based gait, Hypertrophic nerve ... OMIM:145900
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Amyotrophic Lateral Sclerosis 8
Progressive muscle weakness, Fasciculations, Distal muscle weakness, Abnormal pyramidal sign, Amy... OMIM:608627
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance OMIM:118750
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Babinski sign, Sensory axonal neuropathy, Hypoplasia of the pons, Decreased number of peripheral ... OMIM:620542
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Spinocerebellar Ataxia 18
Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progres... OMIM:607458
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... ORPHA:275872
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Spinocerebellar Ataxia 31
Limb ataxia, Ataxia, Gait ataxia OMIM:117210
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Progressive muscle... ORPHA:399096
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Abnormal myelination, Aplas... ORPHA:401830
Mast Syndrome
Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos... OMIM:248900
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Cer... OMIM:607317
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Developmental And Epileptic Encephalopathy 14
Hypoplasia of the corpus callosum, Gliosis, Tetraplegia, Spasticity, Clonus, Microcephaly, Cerebr... OMIM:614959
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... ORPHA:98897
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Steppage gait, Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Babinski sign, Ankle flexion contracture, Difficulty walking, Spasticity, Poor fine... ORPHA:320370
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d... OMIM:602433
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia... OMIM:617854
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Decrea... OMIM:607250
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Amish Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Tremor, Progressive muscle weakness ORPHA:98902
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Reduced cerebral white matter volume, Simplifi... OMIM:615095
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Cerebral cortex with spongiform changes, Abnormality of extrapyr... ORPHA:204
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regene... OMIM:607677
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Cerebral atrophy, Apraxia, Falls, Spasticity, Cerebellar atrophy, Ga... OMIM:300423
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Dystonia With Cerebellar Atrophy
Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Dystonia OMIM:611694
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Difficulty walking, Axonal regeneration, Decreased number of large pe... OMIM:605285
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Gait ataxia, CNS dem... ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Inability to walk, Axonal degeneration, Sensory axonal neuropathy, Decreased numbe... ORPHA:98856
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Steppage gait, Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Onion bulb formation, Axonal regeneration, Peripheral demyelination OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Difficulty walking, Axonal regeneration, Decreased m... OMIM:608323
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Waddling gait, Unsteady gait, Decreased number of peripheral myelinat... OMIM:609311
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Amyloidosis of peripheral nerves, Progressive cerebellar ataxia, Spa... ORPHA:282166
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Vocal cord paresis, Decreased number of peripher... OMIM:607706
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner... ORPHA:329284
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Progressive proximal muscle weakness, Facial diplegia, Axial muscle weaknes... ORPHA:399058
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gliosis, Gait ataxia,... OMIM:213200
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Falls, Onion bulb forma... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor... OMIM:615490
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia,... OMIM:604168
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Generalized muscle weakness, Cachexia, Progressive external ophthalmoplegia, Slender build, Ataxi... OMIM:613662
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Difficulty walking, Gait imbalance, Peripheral a... ORPHA:99953
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Poor fine motor coordination, Bradycardia OMIM:617182
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Onion bulb formation, Segm... OMIM:311070
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Peripheral axonal neuropathy, Demyelinating peripheral neu... ORPHA:101077
Porphyria, Acute Hepatic
Paralysis, Paresthesia, Respiratory paralysis OMIM:612740
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Chorea, Distal muscle weakness, Head titubation, Ataxia, Opisthotonus, Amyotrophic late... ORPHA:300605
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic... OMIM:614487
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Desminopathy
Distal lower limb muscle weakness, Fatigable weakness of respiratory muscles, Progressive muscle ... ORPHA:98909
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... ORPHA:726
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Giant somat... OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond... OMIM:605588
Distal Nebulin Myopathy
Progressive proximal muscle weakness, Slender build, Progressive distal muscle weakness, Foot dor... ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Tremor, Cerebellar... OMIM:618387
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Tongue fasciculations, Clonus, Elevated urinary quinolinic acid level... OMIM:618811
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness ORPHA:178400
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Pontocerebellar atrophy, Difficulty walking, Oculomotor apraxia, Lo... ORPHA:171629
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Cerebellar atrophy, Prolonged neonatal jau... ORPHA:909
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Gliosis, Spasticity, Corpus callosum atrophy, CNS demyelination, Rigidity,... OMIM:221820
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Krabbe Disease
Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu... OMIM:245200
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Decreased compound muscle action potential amplitude, Fasciculations, Decreased nu... OMIM:600882
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Peroxisome Biogenesis Disorder 11B
Hepatosplenomegaly, Muscle weakness, Progressive muscle weakness OMIM:614885
Chorea, Benign Familial
Chorea OMIM:215450
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait, Peripheral axonal neuropathy, Onion bul... OMIM:610100
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra... OMIM:271245
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation ORPHA:98916
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Astrocytosis, Gait disturbance, Rigidity, Dystonia, Myoclonus OMIM:600795
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, Progressive muscle weakness, Progressive distal muscle weak... OMIM:609452
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Huntington Disease-Like 2
Chorea, Involuntary movements, Cerebral cortical atrophy, Dystonia, Parkinsonism, Weight loss, Ab... ORPHA:98934
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys... OMIM:615362
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Urinary incontinence, Lower limb spasticity, Impaired ... OMIM:604360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity, Gait disturbance ORPHA:99944
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Motor axonal neuropathy, Ri... OMIM:615643
Hemimegalencephaly
Optic atrophy, Hyperintensity of cerebral white matter on MRI, Polymicrogyria, Gliosis, Hemimegal... ORPHA:99802
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Hammer... OMIM:607684
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of am... OMIM:617916
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Tongue fasciculations, Spasticity, Microcephaly, Failure to thrive, D... OMIM:618276
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical at... ORPHA:33445
Charcot-Marie-Tooth Disease, Type 4B2
Steppage gait, Difficulty walking, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:604563
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Spastic Ataxia 4, Autosomal Recessive
Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Sp... OMIM:613672
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Paraparesis OMIM:302802
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Spastic paraparesis, Ataxia, Gait disturbance ORPHA:2815
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ... OMIM:608673
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Optic atrophy, Spasticity, Shuffling gait, Frequent falls, Gait dist... ORPHA:289560
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spastic Paraplegia 75, Autosomal Recessive
Spastic gait, Babinski sign, Optic atrophy, Spastic dysarthria, Spasticity, Cerebellar atrophy, C... OMIM:616680
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, Distal m... ORPHA:59135
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Cachexia, Spasticity, Failure to thrive, Ataxia, Abno... ORPHA:363717
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells, Muscle weakness ORPHA:65684
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Peroneal muscle weakness, Progressive muscle weakness, Gowers sign, Frequent falls, Proximal musc... OMIM:611588
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Babinski sign, Cerebral atrophy, Demyelinating motor neuropathy, Sensory axonal ne... OMIM:608804
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropathy, Spasticity, Dysdiadochokine... ORPHA:313772
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Distal sensory impairment OMIM:613710
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor weakness, Wrist... OMIM:616852
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta... OMIM:610185
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Progressive muscle weakness OMIM:605355
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy OMIM:616494
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Falls, Resting tremor, Peripheral axonal neuropathy, Cerebellar atro... OMIM:617225
Riboflavin Transporter Deficiency
Bulbar palsy, Cachexia, Tremor, Facial palsy, Limb muscle weakness, Ataxia, Muscle weakness, Myoc... ORPHA:97229
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Hyperintensity of MRI T2 signal of the spinal cord, Urina... OMIM:609033
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni... ORPHA:254343
Papular Xanthoma
Histiocytosis ORPHA:158008
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Gliosis, Gait ataxia, Intention tremor, Rigidity, Dif... OMIM:607136
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Steppage gait, Peripheral demyelination, Onion bulb formation, Decreased number of large peripher... OMIM:608340
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus... ORPHA:663
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Spinal ... ORPHA:98756
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Isaacs Syndrome
Fasciculations, Weight loss, Muscle weakness ORPHA:84142
Amyotrophic Lateral Sclerosis 27, Juvenile
Progressive muscle weakness, Lower limb spasticity, Generalized muscle weakness, Tongue fascicula... OMIM:620285
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Action tremor, Rigidity, Splenomegaly, A... ORPHA:309854
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Sensory axonal neuropathy, Tremor, Cer... ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous ... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro... OMIM:616230
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Poor gross motor coordination, Impaired distal vibration sen... ORPHA:99948
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Tremor, Spasticity, Delayed myelinatio... ORPHA:599373
Myopathy And Diabetes Mellitus
Babinski sign, Progressive cerebellar ataxia, Progressive proximal muscle weakness, Weakness of o... ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Cerebellar atrophy, Optic n... OMIM:616811
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrop... OMIM:210000
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Abnormality of extrapyramidal motor function, Astrocytosis, Upper motor neuron dy... ORPHA:275864
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... ORPHA:98
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff... OMIM:612319
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis, Simplified gyral pattern OMIM:618328
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Decre... OMIM:618184
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Babinski sign, Dysplastic corpus callosum, Optic... OMIM:613162
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Atrophy/Degeneration affe... ORPHA:98759
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology by anatomical s... ORPHA:88628
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Huntington Disease-Like 1
Bradykinesia, Abnormal basal ganglia morphology, Gliosis, Chorea, Incoordination, Poor fine motor... ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Inability to walk, Diabetes insipidus, Astrocytosis, Slender build, Joint hyp... OMIM:611087
Metachromatic Leukodystrophy
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Tetraplegia, Gait dist... OMIM:250100
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Abnormal circulating enzyme concentration or activity ORPHA:132
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Ataxia, Ankle clonus, Dys... OMIM:610357
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration, Osteosclerosis of the ulna, Fractures of... OMIM:602080
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
External ophthalmoplegia, Cachexia, Gait ataxia, Failure to thrive, Weight loss OMIM:612075
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Distal sensory impairment, Elevated circulating creatine kinase concentration, Foc... OMIM:614455
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis ORPHA:101005
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, C... OMIM:617810
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Dysmetria, Myoclonus OMIM:619191
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Generalized muscle weakness, Bulbar palsy, Progressive proximal muscle weakness, Distal muscle we... ORPHA:254875
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis OMIM:616287
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Progressive proximal muscle weakness, Facial palsy, Limb muscle weakness, Dystonia, Proximal musc... OMIM:167320
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Hammertoe, O... OMIM:601455
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Demyelinating peripheral neuropathy, Congenit... OMIM:607596
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Spasticity, Reduced cerebral white matter vol... OMIM:620317
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, At... OMIM:612438
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Flexion contracture of toe, Chorea, Finger joint contracture, Osteopo... ORPHA:48431
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Demyelinating motor neuropathy, Babinski sign, Ankle clonus, Progressive spasticity, Upper motor ... ORPHA:506353
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthrit... ORPHA:564003
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 17