Gene Summary

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

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.

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Ophthalmoscopy

1 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

Combined SHIRPA and Dysmorphology

Images

2 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
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, Difficulty walking, Scissor gait, Spasticity OMIM:615685
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Glutathionuria
Tremor OMIM:231950
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Poor fine motor coordination, Sick sinus syndrome, Hyperactivity, Bradycardia, Attent... OMIM:617182
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... OMIM:302800
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Mental Retardation, Autosomal Recessive 63
Inability to walk, Spasticity OMIM:618095
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Cerebral atrophy, Ne... OMIM:617672
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Mildly elevated creatine kinase, Gait disturbance, Degeneration of anterior horn cells, ... OMIM:604484
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Multicentric Reticulohistiocytosis
Muscle weakness, Histiocytosis, Cachexia ORPHA:139436
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cerebe... ORPHA:497764
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demyelinating sensory ... ORPHA:208981
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Steppage gait, Frequent falls, Onion bulb formation OMIM:618279
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Babinski sign, Cerebellar cortical atrophy, Progressive spasticity, Abnormal ... ORPHA:171622
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Gait disturbance, Abnormal cerebellum morpholog... OMIM:248900
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Degeneration... OMIM:602433
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Cerebral cortical atrophy, Spastic gait, Abnormal myelination, Lower limb spa... ORPHA:401820
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Broad-based gait OMIM:601238
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Cerebral atrophy, Abnormal pyrami... ORPHA:397946
Amyotrophic Lateral Sclerosis 8
Postural tremor, Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal muscle weakness,... OMIM:608627
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Progressiv... ORPHA:206448
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Axonal loss, Gait disturbance, Bone cyst, Ce... OMIM:221770
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Axonal degeneration/regeneration, Stepp... OMIM:606483
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Clonus, Difficulty walking, Onion bulb formation, Peripheral axonal neuropath... OMIM:615035
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spastic tetraparesis, Iron accumulation in substantia nigra, Cerebellar atrophy, ... ORPHA:496756
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:100070
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Fasciculations, Progressive muscle weakness, Limb muscle weak... ORPHA:641
Chronic Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Motor conduction block, Abnormal nerve conduction velocity, Decreased nerve c... ORPHA:2932
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Spastic paraparesis, Babinski sign OMIM:613672
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Paraparesis, Ataxia, Optic atrophy ORPHA:99014
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetra... OMIM:614959
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Toe walking, Tetraparesis, Decreased number of peripheral... ORPHA:2386
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Spastic paraparesis, Spasti... OMIM:312920
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Axonal regeneration, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... OMIM:611228
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencepha... OMIM:607341
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Limb ataxia... OMIM:208920
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Neuromyelitis Optica Spectrum Disorder
Myelitis, Optic neuritis, Functional abnormality of the bladder, Somatic sensory dysfunction, Per... ORPHA:71211
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia OMIM:167400
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Gliosis, Symmetric peripheral demyelination, Corpus callo... OMIM:169500
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Neurodegeneration, Spastic... OMIM:612319
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Ataxia, Brain atrophy, Nephrotic syndrome, Edema, Stage 5 chro... OMIM:617731
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... OMIM:270500
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Spastic tetraparesis, Babinski sign, Peripheral... OMIM:249900
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Generalized muscle weakness, Proximal muscle weakness in upper limbs, Ankle weakness,... ORPHA:98912
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Tremor, Distal muscle weakness OMIM:614369
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Abnormal cerebellar corte... ORPHA:101111
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... ORPHA:98762
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Global brain atrophy, Abnorma... ORPHA:275872
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Lower limb spasticity, Abnormal myelination, Aplasia/Hypoplasia of the... ORPHA:401830
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lower limb muscle we... ORPHA:399096
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Ataxia OMIM:615957
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cer... ORPHA:204
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Focal T2 hyperintense basal ganglia lesion, Spasti... ORPHA:282166
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Amish Nemaline Myopathy
Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Dysmetria, Limb fasciculations OMIM:606183
Oculopharyngodistal Myopathy
Vocal cord paresis, Distal upper limb muscle weakness, Fatigable weakness of bulbar muscles, Prog... ORPHA:98897
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Spinocerebellar Ataxia 25
Cerebellar atrophy, Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, External ophthalmoplegia, Weight loss, Cachexia, Failure to thrive OMIM:612075
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Loss of ability to ... OMIM:610532
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Ataxia, Generalized muscle weakness, Progressive external ophthalmopl... OMIM:613662
Atrial Standstill
Hemiplegia, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduct... ORPHA:1344
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal proportion of CD4-positive T cells, Abnormal oligodendroglia morphology, Pa... ORPHA:217260
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Paraparesis, Decreased nerve conduction velocity OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia OMIM:604432
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Small for gestational age, Progressive proximal muscle weakness OMIM:300076
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Steppage gait, Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation... OMIM:608340
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Facial diplegia, Progressive distal muscle weakness, Respiratory insufficie... ORPHA:399058
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, C... OMIM:221820
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babin... OMIM:600795
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Impaired vibratory sensation, Spastic paraparesis, Difficulty walk... ORPHA:320370
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Difficulty walking, Motor conduction block, Demyelinat... ORPHA:99953
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Horner Syndrome, Congenital
Paralysis OMIM:143000
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... OMIM:604168
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Respiratory insu... ORPHA:98909
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal cerebral w... ORPHA:275864
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Dystonia, Decreased motor nerve conduction velocity, Choreoathetosis, Spastic par... OMIM:608804
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Segm... OMIM:311070
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... OMIM:615643
Distal Nebulin Myopathy
Slender build, Progressive distal muscle weakness, Progressive proximal muscle weakness, Neck fle... ORPHA:399103
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Gait ataxia, Peripheral demyelination, Broad-based gait OMIM:258650
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Steppag... OMIM:618387
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia ORPHA:101005
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Corticospinal tract pallor OMIM:600333
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness ORPHA:178400
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis, Diffic... ORPHA:101077
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of tibia morphology, Gliosis, Abnormality of extrapyramidal motor function,... ORPHA:909
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Congen... OMIM:607596
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, Neurodegeneration, CNS demyelination, Decerebrat... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Corpus callosum atrophy, Difficulty walking, Pontocerebel... ORPHA:171629
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Microcephaly 10, Primary, Autosomal Recessive
Delayed myelination, Gliosis, Hypertonia, Cerebral atrophy, Small for gestational age, Intrauteri... OMIM:615095
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... ORPHA:521406
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Morning myoclonic jerks ORPHA:2898
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Progressive muscle weakness, Progressive proximal muscle weak... OMIM:609452
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Pappenheimer bodies, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination ORPHA:99944
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Hemimegalencephaly
Pachygyria, Gliosis, Hemiparesis, Polymicrogyria, Abnormal neuron morphology, Myoclonus, Hyperint... ORPHA:99802
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... OMIM:300423
Porphyria, Acute Hepatic
Paresthesia, Paralysis, Respiratory paralysis OMIM:612740
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Hand tremor, Degeneration of anterior horn cells, Proximal muscle weakness, Tong... OMIM:253400
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dystonia, Hypertonia, Poor fine motor coordination, Jaundice, Decreased circulating... ORPHA:309854
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bul... OMIM:610100
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Myopathy, Scapulohumeroperoneal
Wrist drop, Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor wea... OMIM:616852
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Falls, Clonus, Tongue fasciculations, Axonal degeneration OMIM:618811
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis, Ataxia ORPHA:2815
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... OMIM:618170
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Cerebral hypomyeli... OMIM:612438
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Abnormal substantia n... ORPHA:289560
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Progressive muscle weakness, Failure to thrive, Respiratory insufficiency d... OMIM:613561
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Weakness of orbicularis oculi muscle, Distal muscle weakness, Proximal musc... ORPHA:59135
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Urinary bladder sphincter dysfunction, Degeneration of the lateral corticospi... OMIM:604360
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Nemaline Myopathy 5
Progressive muscle weakness, Tremor OMIM:605355
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Chorea, Benign Familial
Chorea OMIM:215450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Lipoyltransferase 1 Deficiency
Dystonia, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Pulmonary arterial ... OMIM:616299
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis, Inability to walk, Joint laxity, Difficulty walking, Megalencephaly,... OMIM:611087
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Demyelinating periphera... ORPHA:313772
Riboflavin Transporter Deficiency
Muscle weakness, Tremor, Limb muscle weakness, Ataxia, Facial palsy, Myoclonus, Cachexia, Bulbar ... ORPHA:97229
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, C... OMIM:617225
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Papular Xanthoma
Histiocytosis ORPHA:158008
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Knee clonus, ... OMIM:275900
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Progressive ce... ORPHA:1175
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Decreas... OMIM:601455
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Knee clonus, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Parki... OMIM:604187
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Ataxia, Failure to thrive, Peripheral demyelination, CNS demyelination OMIM:220111
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Ataxia, Dysplastic corpus callosum, Failure to thrive, Microcephaly, Tongue fascicu... OMIM:618276
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck OMIM:300718
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Pelvic girdle muscle weakness, Shoulder girdle muscle weakn... ORPHA:2596
Huntington Disease-Like 2
Chorea, Weight loss, Caudate atrophy, Cerebral cortical atrophy, Abnormal cerebral morphology, Pa... ORPHA:98934
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria OMIM:617770
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Difficulty walking, Intention tremor, Cerebellar vermis hypoplasia, Abnormal pyramid... ORPHA:98
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed myelination, Gliosis, Hypertonia, Myoclonic spasms, Microcephaly, Progressive microcephal... OMIM:614498
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus... ORPHA:663
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Delayed CNS myelination, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Op... OMIM:616811
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Spastic tetraplegia, Failure to thrive, Peripheral demyelination OMIM:618237
Isaac Syndrome
Muscle weakness, Fasciculations, Weight loss ORPHA:84142
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Myopathy, Spheroid Body
Muscle weakness, Tremor, Proximal muscle weakness, Distal muscle weakness, Neck flexor weakness OMIM:182920
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Gait disturbance, Ataxia, Abnormal sensory nerve conduction v... ORPHA:88628
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Respiratory insufficiency due to muscle weakness, Progressive external ophthalmo... ORPHA:254875
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells, Proximal muscle weakness OMIM:271150
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Corpus callosum atrophy, Spastic paraparesis, Ataxia, Cerebellar vermis atrophy, ... OMIM:614877
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Hyperintensit... OMIM:609033
Butyrylcholinesterase Deficiency
Abnormal enzyme/coenzyme activity, Paralysis ORPHA:132
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Slurred speech, Poor fine motor coordin... ORPHA:157941
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Dysmetria, Babinsk... OMIM:610357
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Juvenile Amyotrophic Lateral Sclerosis
Muscle weakness, Upper limb spasticity, Chorea, Hypertonia, Spastic diplegia, Head titubation, At... ORPHA:300605
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Neuronal loss in the cerebral cortex, Diffuse demyelination of the cerebral ... ORPHA:168486
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Slowed slurred speech, Ataxia, Diabetes mellitus OMIM:172500
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia 17
Apraxia, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Bradykinesia, Parkinsonism, Myoclonus... OMIM:607136
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Myoclonus, Microcephaly, Spasticity OMIM:225753
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Poor co... ORPHA:478029
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Metachromatic Leukodystrophy