Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

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.

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
Abnormal cortical gyration, Optic atrophy, Dystonia, Limb hypertonia, Rigidity, Failure to thrive... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Optic atrophy, Babinski sign, Rigidity, Failure to thrive, Abnormalit... 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
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Gait disturbance, Babinski sign, Cerebellar atrophy, H... OMIM:302800
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Type 1 muscle fiber predominance, Ragged-red muscle fibers, Favorable response of weakn... ORPHA:353327
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis, Spastic tetra... ORPHA:496756
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Cerebellar vermis atrophy, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... ORPHA:99014
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysplastic corpus callosum, Failure to thr... OMIM:618276
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Babinski sign, Skeletal muscle atrophy, Upper limb spasticity, Lower limb spast... OMIM:611225
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Dys... OMIM:606183
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Babinski sign, Spastic gait, Knee flexion contracture, Impaired vibrat... ORPHA:320370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper... OMIM:302802
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Leg... ORPHA:101010
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Cerebellar cyst, Cerebellar atrophy, Frequent falls, Facial diplegia, Kyphos... ORPHA:370980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... OMIM:213200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Babinski sign, Abnormal pons morphology, Impaired vibration sensation in ... ORPHA:171622
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... OMIM:611252
Mast Syndrome
Gait disturbance, Babinski sign, Apraxia, Spastic paraplegia, Lower limb muscle weakness, Spastic... OMIM:248900
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... ORPHA:101077
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Gliosis, Positive Romberg s... OMIM:607136
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Respiratory distress OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... OMIM:615768
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Difficulty walking OMIM:608634
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal dyskinesia, Parap... OMIM:105550
Spastic Paraplegia 2, X-Linked
Optic atrophy, Degeneration of the lateral corticospinal tracts, Babinski sign, Skeletal muscle a... OMIM:312920
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Skeletal muscle atrophy, Leukoencephalopathy, Tremor, Ataxia, Flexion contracture,... OMIM:611105
Lissencephaly 3
Lissencephaly, Spastic tetraplegia, Cerebellar vermis hypoplasia, Ataxia, Pachygyria, Polymicrogy... OMIM:611603
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia, Spa... OMIM:618572
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Behr Syndrome
Progressive spasticity, Babinski sign, Optic atrophy, Cerebellar atrophy, Gait disturbance, Dysme... OMIM:210000
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Simplified gyral pattern, Ataxia, Progressive microc... OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Cough, Distal sensory impairment, Tremor, Abnormal peripheral action potenti... ORPHA:90117
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Central sleep apnea, Tremor,... ORPHA:79262
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination ORPHA:98766
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Aplasia/Hypoplasia of the cereb... ORPHA:401820
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... OMIM:618876
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Microlissencephaly
Cerebellar atrophy, Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified... ORPHA:1083
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Difficulty walking, Fatigable weakness, Frequent falls OMIM:616227
Lissencephaly 1
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Agyria, Cerebellar hypoplasia, Ab... OMIM:607432
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Hyperintensity of cerebral white matte... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Hype... OMIM:225753
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Distal amyotrophy, Dysmetr... OMIM:275900
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Failure to thrive, Abnormal morphology of musculature of pharynx, Gliosis, Lower l... ORPHA:280210
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal vertebral morphology, Abnormal corpus callosum morpho... OMIM:618709
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Hand tremor, Gliosis, Fasciculations, Distal sensory impai... OMIM:604484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Cerebellar cyst, Shoulder girdle muscle atrophy, Vertebral fusion, Achilles ... OMIM:606612
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Kyphosis, Distal sensory impairment, Foot dorsiflexor weakness,... OMIM:617087
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia OMIM:143100
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... ORPHA:99
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, Distal sensory impairment, Ata... OMIM:618387
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Limb... OMIM:614409
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Tremor, Ataxia... ORPHA:101075
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Hypermanganesemia With Dystonia 2
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Prog... OMIM:607458
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... OMIM:256030
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity, Distal amyotrophy, Sp... OMIM:617207
Myopathy, Distal, With Rimmed Vacuoles
Z-band streaming, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Myoclonus, Gliosis, Hemiparesis, P... ORPHA:99802
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... ORPHA:640
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Skeletal m... ORPHA:3115
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Idiopathic Camptocormia
Abnormal pons morphology, Spinal canal stenosis, Abnormal intervertebral disk morphology, Dystoni... ORPHA:1320
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Machado-Joseph Disease
Dystonia, Babinski sign, Cerebellar atrophy, Rigidity, Dilated fourth ventricle, Gliosis, Abnorma... OMIM:109150
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable ... ORPHA:171439
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar cyst, Basal ganglia necrosis, Dystonia, Small... ORPHA:79243
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Babinski sign, Cerebellar atrophy, Cerebral white matter atrophy, Distal amyotroph... ORPHA:468661
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Respiratory distress, Parkinsonism with favorabl... ORPHA:240085
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Tremor, Calf muscle hypertrop... OMIM:615048
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Difficulty walking, Decreased motor nerve conduction velocity OMIM:605285
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... OMIM:300957
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable wea... OMIM:603034
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Spinal deformities, Reduced muscle fiber alpha dystroglycan, Cerebel... ORPHA:370968
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... OMIM:607483
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Leg mu... OMIM:606693
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Failure to thrive, Myoclonus, Ataxia, Hypertonia, Respiratory distress, Spast... OMIM:618426
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Lethargy OMIM:613710
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Babinski sign, Distal amyotrophy, Frequent falls, Myoclonus, Fasciculations, Tremor, At... OMIM:607317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Lissencephaly, Spastic tetraplegia, Pachygyria, Agyria, Gray matter... OMIM:615411
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Fl... OMIM:613162
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal moto... ORPHA:385
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia, Myoclonus, Involuntary movements OMIM:611092
Primary Dystonia, Dyt4 Type
Involuntary movements, Gait disturbance, Torticollis, Eunuchoid habitus, Laryngeal dystonia, Resp... ORPHA:98805
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Optic atrophy, Dystonia, Involuntary movements, Progressiv... ORPHA:401768
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Babinski sign, Spastic ataxia OMIM:613672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:615957
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... OMIM:618655
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebellar atrophy, Stereotypy OMIM:617862
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic paralysis, Respiratory insufficiency, Failure to thrive, Facial palsy, Respiratory ... OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Spastic tetraplegia, Periventricular ribbonlike heterotopia, Thick cerebr... OMIM:618677
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spastic parapleg... OMIM:612936
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Focal T2 hyperintense basal ganglia lesion, Paraparesis, Frontal... ORPHA:2822
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis ORPHA:2815
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia OMIM:611694
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Hypoplasia of the pons, Congenital contracture, Fasciculations, B... OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Optic atrophy, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:117210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Optic atrophy, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cerebellar atrophy, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of t... ORPHA:300573
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Bradykinesia, Tr... OMIM:615157
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Lissencephaly, Agenesis of corpu... OMIM:300067
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Failure to thrive, Progressive ... OMIM:608097
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Neuronal loss in the cerebral cortex,... ORPHA:168486
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Rimmed ... OMIM:616924
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... ORPHA:70589
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Impai... ORPHA:99947
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... ORPHA:225154
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Babinski sign, Failure to thrive in infancy, Increased intramyocellular lipid droplets,... OMIM:619065
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Gliosis, Shuffling gait, Leukoencephalopathy, Bradykinesia, Apraxia, Abnormal cerebral ... OMIM:221820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Limb muscle weakness, St... OMIM:609260
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Babinski sign, Caudate atrophy, Myoclonus, Leukoencephalopathy, Gliosis, Apraxi... OMIM:221770
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Cerebellar atrophy, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Lower limb spasticity, Spa... OMIM:612319
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Gliosis, Joint contracture of the hand, Arthrogryposis multipl... OMIM:214150
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Scoliosis, Fatigable weakness OMIM:614750
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Lower limb spasticity, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based ... OMIM:616756
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, C... OMIM:615412
Developmental And Epileptic Encephalopathy 14
Clonus, Gliosis, Tetraplegia, Spasticity, Hypoplasia of the corpus callosum, Cerebral cortical at... OMIM:614959
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive... OMIM:618404
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Generalized limb muscle atrophy, Spastic ataxia, Cerebral atrophy, Loss of ambulation... ORPHA:137898
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... OMIM:604213
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Spastic paraplegia, Paraparesis, Abnormal lumbar spin... ORPHA:101005
Butyrylcholinesterase Deficiency
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation ORPHA:132
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Folinic Acid-Responsive Seizures
Optic atrophy, Dystonia, Cerebellar atrophy, Chorea, Apnea, Spastic tetraparesis, Ataxia, Hyperto... ORPHA:79097
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Increased intramyocellular lipid droplets, Tremor, Ataxia, Abnorma... OMIM:612016
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Decreased miniatur... OMIM:608930
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Secondary microcephaly, Ataxia, Spasticity, Attention deficit hyperactivity disorder OMIM:617854
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Iron accumulation in globus pallidu... OMIM:619389
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... ORPHA:444099
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Fatigable weakness, Generalized ... OMIM:254210
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Increased intramyocellular lipi... OMIM:614487
Myopathy And Diabetes Mellitus
Babinski sign, Frequent falls, Progressive cerebellar ataxia, Impaired vibratory sensation, Respi... ORPHA:2596
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle ... OMIM:617435
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Stridor, Respiratory insufficiency, Vocal cord paralysis, Facial palsy, ... OMIM:211530
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Parietal cortical atrophy, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Dysm... ORPHA:98
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable weakness, Generalized hypo... OMIM:605809
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Glutathionuria
Tremor OMIM:231950
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Gliosis, Arthrogryposis multiplex congenita, Hyper... OMIM:615095
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis, Astrocytosis, At... ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Agenesis of corpus... ORPHA:1136
Spinocerebellar Ataxia 7
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... OMIM:164500
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Fatigable weakness, Waddling gait, Hyperlordosis, Flexion contracture, ... OMIM:616228
Spastic Paraplegia Type 7
Optic atrophy, Babinski sign, Optic disc pallor, Cerebellar atrophy, Ragged-red muscle fibers, Sp... ORPHA:99013
Primary Angiitis Of The Central Nervous System
Paralysis, Multifocal cerebral white matter abnormalities, Recurrent subcortical infarcts, Parapa... ORPHA:140989
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Dystonia, Failure to thrive, Respiratory distress, Hypertonia, Lethargy ORPHA:26792
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... OMIM:616719
Autosomal Spastic Paraplegia Type 58
Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal sign, Titubatio... ORPHA:397946
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive, Ataxia, Hypertonia, Spasticity, Cerebral ca... ORPHA:1314
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... OMIM:618848
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Abnormal mitochondria in muscle tissue, Cerebellar atrophy, Dysmetria, Myoclonus, Spast... ORPHA:313772
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Facial diplegia OMIM:616286
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Cerebrotendinous Xanthomatosis
Abnormal auditory evoked potentials, Paraparesis, Abnormal pyramidal sign, Abnormal cerebellar pe... ORPHA:909
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Babinski sign, Skeletal muscle hypertrophy, Macroglossia, Achi... OMIM:608840
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive... ORPHA:248111
Rabies
Cerebral palsy, Attention deficit hyperactivity disorder, Paresthesia, Vocal cord paresis ORPHA:770
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Inability to walk, ... ORPHA:330050
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, M... OMIM:616505
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Paraparetic Variant Of Guillain-Barré Syndrome
Sciatica, Impaired distal proprioception, Paraparesis ORPHA:231445
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Upper limb spasticity,... ORPHA:320391
Adult Krabbe Disease
Clumsiness, Hemiplegia, Prolonged brainstem auditory evoked potentials, Lower limb muscle weaknes... ORPHA:206448
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Gliosis, Decreased nerve conduction velocity, Spastic tetraple... OMIM:256600
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Obesity, Kyphosis, Ataxia, Inability to walk, Cerebellar hypoplasia, ... OMIM:618443
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Myopathy, Cerebellar atrophy, Hand muscle weakness, Paresthesia, Ragged-red muscle... ORPHA:254886
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Pseudobulbar paralysis, Glio... OMIM:169500
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Cerebral atrophy, Babinski sign, Spastic dysarthria, Lower limb spastici... ORPHA:352641
Jaberi-Elahi Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Kypho... OMIM:617988
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Optic disc pallor, Episodic respiratory distress, Head titubation, Cerebellar atro... OMIM:301790
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Sudden episodic apnea, Abnorma... ORPHA:3095
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cer... OMIM:617810
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Gliosis, Stereotypy, Tremor, Hyper... ORPHA:457240
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Knee clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Gliosis, Progressive microcepha... OMIM:614498
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Gait disturbance, Arm dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Babinski... ORPHA:88644
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Recurrent aspiration pneumonia, Limb myoclonus, Frequent falls, Respiratory insuffici... ORPHA:2590
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Increased variabil... OMIM:300718
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... OMIM:159950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait disturbance, Gait imbalance, Paresthesia, Impaired pain sensation, Frequent falls, Steppage ... ORPHA:435387
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Cerebellar hyp... ORPHA:33445
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Tay-Sachs Disease
Clumsiness, Quadriceps muscle atrophy, Fasciculations, Incoordination, Lower limb muscle weakness... ORPHA:845
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Dystonia, Postural tremor, Kinetic tremor, Chorea, Cerebral white mat... ORPHA:98756
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Iron accumulation in... ORPHA:329284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... OMIM:300100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Simplified gyral pattern, Stereotypy, Tremor, Periventr... OMIM:619470
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Clonus, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vib... ORPHA:319199
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... ORPHA:353
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in the l... OMIM:600363
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Dysmetria, Failure to thrive, Cerebellar vermis atrophy, Corpus callosum atrophy, ... OMIM:614877
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Congenital Myopathy With Myasthenic-Like Onset
Gait disturbance, Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathi... ORPHA:424107
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... OMIM:613608
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Cerebellar atrophy, Gliosis, Leukoencephalopathy, Abnormality of extrapyramidal mo... OMIM:236792
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials OMIM:608105
Horner Syndrome, Congenital
Paralysis, Congenital Horner syndrome OMIM:143000
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Impaired distal tactile sensation, Impaire... ORPHA:99948
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Spinocerebellar Ataxia 28
Babinski sign, Dystonia, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Gliosis, Facial palsy, Spas... OMIM:616239
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Type 2 muscle fiber atrophy, Fatigable weakness OMIM:601462
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygyria, Dysdiadoch... OMIM:224050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Impaired distal proprioception, Rigidity, Steppage gait,... OMIM:258450
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Gait disturbance, Myopathy, Type 1 muscle fiber pre... ORPHA:171436
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... ORPHA:101081
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... OMIM:261640
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Left ventri... ORPHA:86812
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-based gait OMIM:182920
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Leigh Syndrome
Dystonia, Focal substantia nigra T2 hyperintensity, Optic atrophy, Hepatocellular necrosis, Failu... OMIM:256000
Acute Peripheral Arterial Occlusion
Impaired distal tactile sensation, Paralysis, Paresthesia ORPHA:90064
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Polymicrogyria, Flexion co... OMIM:618291
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Tongue fasciculations, Upper limb spa... OMIM:617193
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Babinski sig... OMIM:607259
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Kyphoscoliosis, Distal sensory impairment, Tremor, Foot dorsiflexor we... OMIM:616668
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Arachnoid Cyst
Gait disturbance, Chiari malformation, Paresthesia, Sciatica, Cranial nerve compression, Facial p... ORPHA:2356
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Skeletal muscle atr... OMIM:604360
X-Linked Adrenoleukodystrophy
Clumsiness, Gait disturbance, Paralysis, Leg muscle stiffness, Paraparesis, Hyperactivity, Progre... ORPHA:43
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Episodic Ataxia Type 1
Clumsiness, Cerebellar atrophy, Poor coordination, Choreoathetosis, Respiratory distress, Hyperto... ORPHA:37612
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cerebellar atrophy, Respiratory insufficiency, Dysmetria, Failure to thrive, Myocl... OMIM:618356
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Babinski sign, Upper limb amyotrophy, Kyphoscoliosis, Lower limb spasticity, Knee flexion contrac... ORPHA:496689
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Frequent fa... ORPHA:98915
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, Facial palsy, EMG: myopathic abnor... OMIM:254110
Gaucher Disease Type 2
Dystonia, Abnormal pattern of respiration, Cough, Respiratory distress, Spasticity ORPHA:77260
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Gait disturbance, Gliosis, Leukoencephalopathy, Spasticity, Unsteady gait, Cessati... OMIM:603896
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Myoclonus, Gliosis, Diffuse cerebral atrophy, Cerebral atrophy, Microcephaly OMIM:614946
Lissencephaly 5
Optic atrophy, Subcortical band heterotopia, Gray matter heterotopia, Cerebellar hemisphere hypop... OMIM:615191
Multiple System Atrophy
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... ORPHA:102
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Distal arthrogryposis, Oromotor apraxia, Limb hypertonia, Weak... ORPHA:98889
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... ORPHA:300605
Periventricular Nodular Heterotopia 7
Optic atrophy, Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia,... OMIM:617201
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Hypoplasia of the pons, Gliosis, Extrapyramidal dyskinesia, Microcephaly, Progressi... OMIM:277470
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... ORPHA:206594
Progressive Supranuclear Palsy
Dystonia, Rigidity, Gliosis, Falls, Bradykinesia, Tremor, Abnormal synaptic transmission, Unstead... ORPHA:683
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Spastic dysarthria, Corpus callosum ... OMIM:616680
Poliomyelitis
Paralysis, Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Paresthesia, Abnormal mo... ORPHA:2912
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex co... OMIM:611890
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia ORPHA:171703
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Aspiration, Hype... OMIM:272750
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Gait disturbance, Optic neuropathy, Optic disc pallor,... ORPHA:101076
Hsd10 Disease
Optic atrophy, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Focal whit... ORPHA:391417
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Polymicrog... ORPHA:370959
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Frequent falls, Torticollis, Generalized amyotrophy, EMG: myopa... ORPHA:75840
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... OMIM:619042
Autosomal Recessive Spastic Paraplegia Type 15
Gait disturbance, Babinski sign, Deep cerebral white matter hyperintensities, Upper limb spastici... ORPHA:100996
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Masa Syndrome
Paraplegia, Shuffling gait, Lower limb spasticity, Kyphosis, Hyperlordosis, Spastic paraplegia, A... OMIM:303350
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... ORPHA:98773
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity ORPHA:1368
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Spastic ataxia, Spasticity, Gait at... OMIM:611390
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita, Abnormal pyramidal sign, C... OMIM:260600
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Simplified gyral pattern, Kyphosis, Tremor, Cerebellar vermis atrophy, Distal lower... OMIM:300354
Spinocerebellar Ataxia Type 1
Impaired proprioception, Postural tremor, Optic atrophy, Cerebellar atrophy, Abnormality of somat... ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Developmental And Epileptic Encephalopathy 68
Clonus, Failure to thrive, Myoclonus, Exaggerated startle response, Respiratory distress, Spasticity OMIM:618201
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Stridor, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ... OMIM:618049
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Stereotypy OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Optic disc pallor, Cerebellar atrophy, Dysmetria, Ataxia, Oculomotor apraxia, Dysd... OMIM:616204
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Respiratory distress, Cerebellar atrophy, Optic atrophy OMIM:615597
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, Axial dystonia, Decrease... OMIM:619026
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Abnormal corpus striatum morphology, Skeletal muscle atrophy, Increased va... ORPHA:238329
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Caribbean Parkinsonism
Dystonia, Midline brain calcifications, T2 hypointense basal ganglia, Weakness due to upper motor... ORPHA:97355
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Autophagic vacuoles, EMG: myopathic abnormalities, Difficulty walking, Increased... ORPHA:399058
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Cerebellar ... OMIM:614563
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Cough, Positive Romberg sign, Vestibular areflexia, Ataxia, Limb ataxia, Gait... OMIM:614575
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... OMIM:617633
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Choreoathetosis, Paraparesis, Ataxia, Tetraparesis, Lethargy ORPHA:27
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... ORPHA:171442
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... ORPHA:100988
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... ORPHA:500180
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria, Spasticity ORPHA:1084
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Facial palsy, Fatigable weakness, Waddling gait, Distal amyotrophy OMIM:254300
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia, Tremor OMIM:618637
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Distal amyotrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral... OMIM:607250
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Cerebellar vermis hypoplasia, Progressive microcephaly, Inability to walk, C... OMIM:618721
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Myopathy, Abnormal auditory evoked potentials, Gait disturbance, Ataxia, Increased... OMIM:125250
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Inability to walk, Cerebellar atrophy OMIM:618006
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... ORPHA:98759
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Action trem... OMIM:180800
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Cerebellar atrophy, Choreoathetosis, Distal sensory impairment, Ataxia, Tremor, Oculomo... OMIM:208920
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Ubiquitin-positive cerebra... ORPHA:52430
Laryngeal Abductor Paralysis
Paralysis, Congenital laryngeal stridor OMIM:308850
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Skeletal muscle atrophy, Facial diplegia, Failure to thrive, Spastic paraparesis, ... ORPHA:254930
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Distal sensory impairment, Sensory... OMIM:614895
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Abnormal muscle fiber morphology, Frequent falls, L... ORPHA:171881
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Flexion c... OMIM:614833
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Optic disc pallor, Weakness of facial musculature,... ORPHA:502423
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Choreoathetosis, Bradykinesia, Spastic tetraplegia, Wrist flexion contracture, Short neck, Scolio... OMIM:300055
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Acute rhabdomyolysis, Abnormality of the cervical spine, Kyphosis, Intent... ORPHA:48431
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Paroxysmal dystonia, Cerebellar cyst, Babinski sign, Viral infection-... ORPHA:2524
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Babinski sign, Progressive tr... OMIM:270550
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Neonatal asphyxia, Difficulty walking ORPHA:306669
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... ORPHA:79263
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dy... ORPHA:420492
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Optic atrophy, Dystonia, Choreoathetosis, Chorea, Respiratory distress, Hemiplegia/hemi... ORPHA:289916
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Oculomotor apraxia, Dysdiadochokinesis, ... ORPHA:208513
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... OMIM:612937
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Decreased nerv... ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Hand muscle weakness, Motor conduction block, Pares... ORPHA:2932
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Postural tremor, Upper limb amyotrophy, Kyphoscoliosis... ORPHA:99950
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Myopathy With Extrapyramidal Signs
Clumsiness, Optic atrophy, Dystonia, Perisylvian polymicrogyria, Hypoplastic anterior limbs of th... OMIM:615673
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... OMIM:617672
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Dystonia, Progressive spasticity, Babin... OMIM:608804
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, Frontalis m... OMIM:300580
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Paresthesia, Camptodactyly of finger, Thoracic scoliosis, Weakness of long finger extensor muscle... ORPHA:324442
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Oculopharyngodistal Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Abnormality of facial muscu... ORPHA:98897
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hype... ORPHA:254343
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Cerebellar atrophy, Macroglossia, Gliosis, Thoracolumbar kyphosis, Spondylolisthes... OMIM:248500
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... ORPHA:596
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
4H Leukodystrophy
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor funct... ORPHA:289494
Oromandibular Dystonia
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Respiratory distress, Hyperkineti... ORPHA:93958
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Lower limb spasticity, Kyphosis, Ataxia, Waddling gait, ... ORPHA:464282
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Waddling gait, Facial palsy, Fatigable weakness OMIM:610542
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Mitochondrial Complex I Deficiency, Nuclear Type 5
Babinski sign, Optic atrophy, Cerebellar atrophy, Dystonia, Respiratory insufficiency, Failure to... OMIM:618226
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity OMIM:612716
Leigh Syndrome
Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Encephalomalacia, Abn... ORPHA:506
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... ORPHA:227510
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Weakness of facial musculature, Choreoathetosis, Dysmetria, Ataxia,... OMIM:618088
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... ORPHA:98933
Bethlem Myopathy 2
Myopathy, Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scapular... OMIM:616471
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Frontal... ORPHA:206559
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of co... OMIM:600348
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis, Lethargy OMIM:613002
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
3-Methylglutaconic Aciduria Type 3
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis ORPHA:67047
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Corpus ... ORPHA:228360
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Cerebellar ... ORPHA:529665
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Dystonia, Clonus, Upper limb hypertonia, Kyphosis, Impaired vibratory sensation... OMIM:614898
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Riboflavin Transporter Deficiency
Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Respiratory insufficiency, Myoclo... ORPHA:97229
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome