Gene Summary

Name:
phospholipase A2, activating protein
Synonyms:
D4Ertd618e,  Ufd3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

Phenotype associated images not available

Human diseases caused by Plaa 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 associated to Plaa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Plaa-Associated Neurodevelopmental Disorder
Leukoencephalopathy, Optic atrophy, Abnormal cortical gyration, Contractures of the large joints,... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Abnormal cortical gyration, Cessation of head growth, Cerebral cortical atrophy, C... OMIM:617527

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

</
Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Hand muscle weakness, Incoordination, Difficulty w... OMIM:302800
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Generalized weakness of limb muscles, Difficulty walking, Lumbar hyperlordosis, Abnorm... ORPHA:353327
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Hypop... OMIM:611225
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Rigidity,... OMIM:617018
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Gait apraxia, Ataxia, Bradykine... OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Hypoplasia of the pons, Cerebellar at... OMIM:618276
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Leth... OMIM:606777
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Progressive spastic parapleg... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Impaired vibratory sensation, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Neu... ORPHA:275872
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Central apnea, Hyperton... ORPHA:71277
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Cerebral atrophy, Difficulty ... OMIM:611252
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm... OMIM:607136
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral... OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, My... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss o... OMIM:613908
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Leukoencephalopathy, Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion ... OMIM:611105
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst, Reduce... ORPHA:370980
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal ... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Knee flexion contracture, Ataxia OMIM:616330
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis ... OMIM:615095
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Lateral ventricle dilatation, Inability to walk, Secondary microcep... OMIM:617854
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Optic atrophy, Inability to walk, Periventricular nodular heterotopia, Cerebe... OMIM:618572
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, In... ORPHA:101110
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy, Distal sensory impairment OMIM:613710
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Lower limb muscle weakness,... OMIM:614409
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... ORPHA:401820
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Neuro... ORPHA:1083
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Multiple joint contractures, Tremor, Ankle clon... ORPHA:521406
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Hypoplasia of ... OMIM:611603
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Abnormal morphology of musculature of p... ORPHA:280210
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia OMIM:143100
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Lissencephaly 1
Pachygyria, Secondary microcephaly, Cerebellar hypoplasia, Abnormal cerebral white matter morphol... OMIM:607432
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... ORPHA:98810
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Congenital contracture, Hypoplasia o... OMIM:225753
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Dystonia 23
Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Myoclonus, Gait disturbance, Tort... OMIM:614860
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Hypoplasia of the corpus callosum, Microcephaly, Pro... OMIM:613402
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Frequent falls, Multiple joint contractures, Fatigable weakness OMIM:616227
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo... OMIM:300957
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Inability... ORPHA:79243
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski si... OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Distal amyotrophy, Cerebellar atrophy, Limb muscle weakness, Foot dorsiflexo... OMIM:618387
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc... ORPHA:3115
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Hypoplasia of the corpus callosum, Dy... OMIM:613162
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Abn... ORPHA:157941
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Spasticity, Shuffling gait, Somatic sensory dysfunction, Rigidity, Parkinson... OMIM:221820
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Facial-lingual f... OMIM:109150
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal amyotrophy, Gait disturbance, Te... OMIM:604484
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Abnormal basal ganglia morphology, C... OMIM:607483
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Respiratory distress, Tremor, Rigidity, Parkinsonism with favorable response... ORPHA:240085
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Dis... OMIM:615048
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... OMIM:616680
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Lower limb muscle weakne... OMIM:613647
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Spastic tetraplegia, Hypoplasia of the corpus callosum, Microcephaly, Thin corpus callosum, Pachy... OMIM:615411
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Tip-... OMIM:606612
Hemimegalencephaly
Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heteroto... ORPHA:99802
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive OMIM:612740
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Distal sensory impairm... OMIM:606693
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Fatigabl... OMIM:603034
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Congenital Muscular Dystrophy With Intellectual Disability
Hypoplasia of the corpus callosum, Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, A... ORPHA:370968
Childhood-Onset Nemaline Myopathy
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Generalized lim... ORPHA:171439
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... OMIM:608984
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605285
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Microcephaly, Paraparesis, Ataxia, Progressive spasti... ORPHA:726
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the corpus callosum, Babinski sign, Microcephal... OMIM:612936
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Hypoplasia of the corpus ... OMIM:300423
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... OMIM:128230
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy, Proximal... ORPHA:1320
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Kyphosis, Tip-toe gait, Lower limb mus... OMIM:615290
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Abnormality of neuronal migra... OMIM:618709
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Cerebellar vermis atrophy, Distal lower limb amyotrophy, Limb ataxia, Foot dorsiflexor... ORPHA:1175
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Optic atrophy, Somatic sensory dysfunction, Hand tremor, Impaired p... ORPHA:99947
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Optic atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor funct... OMIM:236792
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Kyphosis, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment... OMIM:617087
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... ORPHA:401768
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Failure to thrive, Tetraparesis, Periventricular nodular heterotopia, Periventricular heterotopia... OMIM:608097
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Cerebellar atrophy, Spastic tetraparesis, Respiratory distress, ... ORPHA:79097
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis... OMIM:260300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Cachexia, Parkinsonism... OMIM:618093
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Muscle fiber... OMIM:256030
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Cerebellar atrophy, Gait... OMIM:617225
Lissencephaly, X-Linked, 1
Spasticity, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lis... OMIM:300067
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Trem... OMIM:618090
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity,... OMIM:213600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Lower limb muscle weakness, Hypoplasia of the corpus callosum, Park... ORPHA:2822
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder gir... ORPHA:98913
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Myasthenic Syndrome, Congenital, 13
Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions OMIM:614750
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Dec... OMIM:608930
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Obesity, Lumbar hyperlordosis, Hypoplasia ... OMIM:616756
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Bradykinesia, Gait ataxia, Cerebellar hypoplasia, Ataxia, T... OMIM:601238
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... OMIM:258450
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Postural tremor, Head tremor, Chorea... OMIM:620158
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... ORPHA:225154
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper m... OMIM:221770
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus cal... ORPHA:137898
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Spastic gait, Lower limb muscle weakn... OMIM:275900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Impaired vibratory sensation, Up... OMIM:616924
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Herniation of intervertebral nuclei, Abnormality of peripheral nerve conducti... ORPHA:101005
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski... OMIM:619065
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Craniofacial dystonia, Parkinsoni... ORPHA:71517
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D... OMIM:604213
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebral hypoplasia, Cerebellar atrophy, Abnormal astrocyte morphology, Neuronal loss... ORPHA:168486
Myasthenic Syndrome, Congenital, 16
Apnea, Gait disturbance, Periodic paralysis OMIM:614198
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Primary Angiitis Of The Central Nervous System
Recurrent subcortical infarcts, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinso... ORPHA:140989
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Secondary microcephaly, Decreased nerve conduc... OMIM:618404
Sub-Cortical Nodular Heterotopia
Spasticity, Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morpholog... ORPHA:101029
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Frequent falls, Cerebellar vermis atrophy, Hamstring contractu... OMIM:210000
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Failure to... OMIM:620546
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Symmetrical Thalamic Calcifications
Spasticity, Failure to thrive, Cerebral calcification, Abnormality of neuronal migration, Microce... ORPHA:1314
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Limb muscle weakness, Fatigabl... OMIM:605809
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Respiratory distress, Lethargy, Hypertonia, Dystonia ORPHA:26792
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Autosomal Spastic Paraplegia Type 58
Spasticity, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticollis, Unsteady gait, Erratic ... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tand... OMIM:619028
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weaknes... OMIM:614487
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Congenital contracture, Hypoplasia of the pons, Chorea,... OMIM:277470
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615362
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Tip-toe gait, Respiratory distress, Inability to walk, Babinski sig... ORPHA:2596
Epilepsy, Progressive Myoclonic, 8
Falls, Action myoclonus, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at... OMIM:616230
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocytosis, Myoclonus, A... ORPHA:204
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Hypoplasia of the corpus callosum, Impaired tactile sensation, Ab... ORPHA:98
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus callosum, Microcephaly, Clonus, G... OMIM:614959
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor,... OMIM:617810
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis,... ORPHA:909
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower l... ORPHA:99013
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Basal ganglia calcification, Myoclonus, Gai... OMIM:616505
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda... OMIM:620317
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl... ORPHA:300573
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Abnormal periventri... OMIM:608840
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Autonomic bladder dysfunction, Abnormal cerebellum morphology... OMIM:169500
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes... ORPHA:313772
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Neuronal loss in basal ganglia, Distal amyotrophy, Congenital contracture,... OMIM:607596
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Hypoplasia of the corpus callosum, Rigidity... OMIM:615643
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia, Cerebellar atrophy OMIM:616286
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Leukoencephalopathy, Distal amyo... OMIM:619473
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Abnormal tendon morphology, Redu... ORPHA:320391
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Hand muscle weakness, Muscle... ORPHA:254886
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Sciatica, Impaired distal proprioception ORPHA:231445
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... OMIM:620453
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,... ORPHA:599373
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Inability to walk, Dysm... ORPHA:845
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Chorea, Gait ataxi... ORPHA:248111
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Cerebellar atrophy, Inability to walk, Gait ataxi... OMIM:617915
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Distal amyotrophy, Cerebral atrophy, Head tremor, Impaired vibration sensation in the... ORPHA:352641
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Respiratory distress, Inability to walk, Spastic tetraplegia OMIM:617977
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait disturbance, Park... ORPHA:314632
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Microcephaly, Lower limb spasticity, Proximal amyotrophy, Gait disturbance, Hyperlo... OMIM:617404
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Adult Krabbe Disease
Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Impaired tactile sensatio... ORPHA:206448
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Poor fine motor coordination, Impaired pain sensation, Tip-toe gait, Frequent f... ORPHA:435387
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Hypoplasia of the corpus callo... OMIM:617235
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... ORPHA:424107
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Weakness of f... OMIM:618088
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Ragged-red muscle fibers,... OMIM:616239
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum, Calf muscle hypertrophy, Fatigable weakness, Frequent falls OMIM:618197
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb musc... OMIM:607259
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Polymicrogyria, Hypoplasia of the corpus callosum, Hemiparesis, Abnormality of... OMIM:604317
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Skeletal muscle atrophy, Cerebellar atrop... ORPHA:88644
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Abnormal cortical gyration, Fasciculations, Abnormal substantia nigra ... ORPHA:98756
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Periventricular cysts, Ab... ORPHA:363722
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Ataxia, Dystonia OMIM:617836
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Scoliosis, Skeletal muscle atrophy, D... OMIM:159950
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Microcephaly, Gait disturbance, Gliosis, Ov... ORPHA:457240
Episodic Ataxia Type 1
Cerebellar atrophy, Tip-toe gait, Respiratory distress, Clumsiness, Hypertonia, Poor coordination... ORPHA:37612
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnorma... OMIM:256600
Hypermanganesemia With Dystonia 2
Spasticity, Secondary microcephaly, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Br... OMIM:617013
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Adrenoleukodystrophy
Spastic paraplegia, Lower limb muscle weakness, Incoordination, Limb ataxia, Paraparesis, Abnorma... OMIM:300100
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... OMIM:616710
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal ... ORPHA:33445
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Leukoencephalopathy With Vanishing White Matter 1
Leukoencephalopathy, Optic atrophy, Spasticity, Cessation of head growth, Lethargy, Gait disturba... OMIM:603896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Impaired vibratory sensation, Skelet... OMIM:620538
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Babinski sign, Kineti... ORPHA:101109
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Microcepha... ORPHA:319199
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cataplexy, Ina... OMIM:617193
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Inability to walk, Periventricular heterotopia, Cerebellar hypoplas... OMIM:618273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... OMIM:619566
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Facial myokymia, Progressive microcephaly, Ataxia, Kyph... OMIM:620007
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, ... OMIM:600116
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Kyphosis, Finger joint contracture, Chorea, Paresthesia, Abnormality o... ORPHA:48431
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Cerebellar atrophy, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Respiratory distress, Myoclonus, Clonus, Exaggerated startle response OMIM:618201
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Bradykinesia... ORPHA:391411
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy... OMIM:256731
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine este... ORPHA:98915
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Spontaneous pain sensation, Decreased motor nerve conduction velocity, P... ORPHA:101081
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Bilateral perisylvian polymicrogyria,... ORPHA:98889
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Impaired distal tactile sensation ORPHA:90064
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Failure to thrive, Kyphosis, Myopathy, Dystonia, Flexion contr... OMIM:618237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress, Chorea, Hemiplegia/hemiparesis, Lethargy, Dystonia, Choreoat... ORPHA:289916
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Trun... OMIM:607346
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Periventricular white matter hyperint... OMIM:619470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Abnormal pattern... ORPHA:3095
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Spinocerebellar Ataxia Type 17
Blepharospasm, Ataxia, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, P... ORPHA:98759
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum... ORPHA:453521
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec... ORPHA:99948
Arachnoid Cyst
Chiari malformation, Lower limb muscle weakness, Tetraparesis, Inability to walk, Cranial nerve c... ORPHA:2356
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty wal... OMIM:611890
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... ORPHA:2590
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Decreased motor nerve conduction velocity, Difficulty walki... OMIM:614895
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerve conduc... OMIM:607250
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Spasticity, Abnormal cortical gyration, Upper limb hypertonia, Paro... ORPHA:2524
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Rigidity, Babinski sign, Microcephaly, Progressive microcephaly, Limb hypertonia, ... OMIM:614498
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia ORPHA:171703
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Typical Nemaline Myopathy
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Faci... ORPHA:171436
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... OMIM:619042
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Lethargy, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Caribbean Parkinsonism
Bradykinesia, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Progressive gait... ORPHA:97355
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Respiratory distress, Gait ataxia, Cachexia, Weight loss OMIM:612075
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Agenesis of corpus callosum, Microcephaly, Lower ... OMIM:303350
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... OMIM:208920
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... OMIM:618049
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the pons, Type II lissencephaly, Agenesis of corpus callosum, Abnormal pyramidal si... ORPHA:370959
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Failure to thrive, Camptod... OMIM:614399
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Focal substantia nigra T2 hyperintensity, Gliosis, ... OMIM:256000
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Kyphosis, Generalized dystonia, Inability to walk, Multiple jo... OMIM:128100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Hy... ORPHA:500180
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Leg muscle stiffness, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... ORPHA:238329
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Neonatal death OMIM:616287
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Neuronal loss in basal ganglia, Cerebellar atroph... OMIM:604377
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Spastic paraparesis, Cerebral atrophy, Inability to walk, Hypoplasi... OMIM:618721
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Spasticity, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 5
Leukoencephalopathy, Spastic paraplegia, Optic atrophy, Cerebellar vermis hypoplasia, Type II lis... OMIM:615191
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Fatigable weakness, Proximal amyotrophy, Facial palsy, Waddling gait OMIM:610542
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Myoclonus, Ragged-red muscle fiber... OMIM:620451
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Abnormal ... OMIM:211530
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Failure to thr... OMIM:238970
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Difficulty walking, Paraplegia, Dist... ORPHA:98897
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Periventricular hete... OMIM:616171
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Respiratory distress, Lethargy, Dystonia, Choreoathetosis ORPHA:79312
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dyst... OMIM:612438
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Unsteady ga... ORPHA:683
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Spasticity, Distal amyo... OMIM:270550
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... ORPHA:254930
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Cerebellar dentate nucleus calcification, Intracerebral perivent... ORPHA:542310
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Difficulty walking, Inabi... ORPHA:206559
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnorm... OMIM:612016
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Lumbar ... ORPHA:171881
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor OMIM:601068
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Lower limb hy... OMIM:301072
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, ... ORPHA:79263
Rabies
Vocal cord paresis, Paresthesia, Cerebral palsy ORPHA:770
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia OMIM:254120
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Polymicrogyria, Cerebellar vermis atrophy, Distal lower limb amyotrophy, Gait ataxia, Cortical dy... OMIM:300354
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Impaired pain sensation, Decreased... OMIM:607706
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Lower limb muscle weakness, Secondary microcephaly, Periventricular... OMIM:619737
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Loss of ambul... ORPHA:324442
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetria, Oculomot... ORPHA:208513
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Parkinsonism, Short neck, Ataxia, Bradykinesia, Spastic tetraplegia, Choreoatheto... OMIM:300055
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ... ORPHA:75840
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Obesity, Hypopl... ORPHA:464282
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Myoclonus, Tremor OMIM:615127
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Falls, Somatic sensory dysfunction, Spontaneous pain sensatio... ORPHA:2932
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Hemiparesis OMIM:613002
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... OMIM:618124
Leigh Syndrome
Spasticity, Neuronal loss in basal ganglia, Myopathy, Agenesis of corpus callosum, Hypoplasia of ... ORPHA:506
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Spasticity, Dysgenesis of the basal ganglia, Polymicrogyria, Dilate... ORPHA:171680
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:99950
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior bea... OMIM:230650
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Ab... ORPHA:98755
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Optic atrophy, Cerebellar atrophy, Cerebral atr... OMIM:615491
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, G... OMIM:248500
Gaucher Disease Type 2
Respiratory distress, Dystonia, Abnormal pattern of respiration, Spasticity ORPHA:77260
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... ORPHA:596
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,... ORPHA:53351
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni... OMIM:137440
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor... ORPHA:529665
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyra... OMIM:615673
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Spastic paraplegia, Decreased motor nerve conduct... OMIM:619026