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Gene: Cntnap1 MGI:1858201

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Gene Summary

Name:
contactin associated protein-like 1
Synonyms:
Caspr,  NCP1,  paranodin,  p190,  Nrxn4,  shm

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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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Viewing: all phenotypes

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 Cntnap1 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 Cntnap1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, CNS hypomyelination, Cerebellar atrophy, Decreased motor nerve conduction velocity, F... OMIM:618186
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Facial diplegia, Cerebral atrophy OMIM:616286
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680

The table below shows human diseases predicted to be associated to Cntnap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Spastic Paraplegia Type 34
Shuffling gait, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Low... ORPHA:171607
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Spastic paraplegia, Paraplegia, Babinski sign, Clonus, Spastic gait OMIM:300750
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Decreased motor nerve conduction velocity, Paresthesia, Gait imbalanc... ORPHA:101081
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Distal upper limb muscle w... OMIM:618912
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Decreased compound muscle action potential amplitude, Babinski sign, Chaddock... OMIM:619112
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... ORPHA:206594
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Hereditary Motor And Sensory Neuropathy V
Spasticity, Decreased motor nerve conduction velocity, Difficulty walking, Limb muscle weakness, ... OMIM:600361
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Difficulty walking, Distal... OMIM:608323
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my... OMIM:619742
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Dista... OMIM:302802
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... ORPHA:98890
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Failure to thrive, Myoclonus... OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Somatic sensory dysfunction, Abnormal motor evoked potentials, ... ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... ORPHA:352675
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebral palsy OMIM:605388
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot ... OMIM:609260
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Somatic sensory dysfunction OMIM:612577
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal upper limb muscle weakness, Decreased amplitude of sensory action potentials, Failure to t... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Impaired pain sensa... OMIM:607684
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Impaired pain sensation, Impaired distal vibration sensation OMIM:300905
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal sensory impairment,... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118210
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
X-Linked Complicated Spastic Paraplegia Type 1
Upper motor neuron dysfunction, Spastic paraplegia, Ataxia ORPHA:306617
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:616687
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Babinski sign, Dysdiadochokin... ORPHA:101007
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sen... OMIM:620111
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Decreased motor nerve conduction velocity... OMIM:214400
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait, Impaired distal tactile sensation, Dist... OMIM:610100
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Leukodystrophy, Hypomyelinating, 2
Poor head control, Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity,... OMIM:608804
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Quadriceps muscle weak... ORPHA:99948
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Abnormality of peripheral nerve... ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:605588
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Difficulty walking, He... ORPHA:527497
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper... ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:607678
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, De... OMIM:618184
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:607734
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment, Proxima... ORPHA:99944
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Monomelic Amyotrophy
Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myeli... OMIM:618468
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations, Foot dorsiflexor weakness, Distal sens... OMIM:606595
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Upper limb muscle weakness, Abnormal motor nerve conduction velocit... ORPHA:139536
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atro... OMIM:617951
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Babinski sign, Scissor gait, Gait disturbance, Clonus, Hypertonia, Impaired v... OMIM:615686
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased com... OMIM:618279
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Impair... OMIM:270685
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait di... ORPHA:363710
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Positive Romberg sign, Gait ata... OMIM:608984
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys... ORPHA:99950
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:607694
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty ... ORPHA:79097
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction veloci... OMIM:607250
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fasciculations, Decreased... OMIM:600882
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Autosomal Recessive Spastic Paraplegia Type 21
Spasticity, Frontotemporal cerebral atrophy, Difficulty walking, Abnormal cerebellum morphology, ... ORPHA:101001
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... OMIM:249900
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu... OMIM:302800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnormal cranial nerve mor... OMIM:605253
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Leukodystrophy... ORPHA:447896
Charcot-Marie-Tooth Disease, Type 4B3
Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve conduction velocity, Dist... OMIM:615284
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebel... ORPHA:1188
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Optic atrophy, Tetraparesis, Fasciculations, Po... OMIM:615491
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Fasciculations,... ORPHA:98755
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased a... OMIM:608673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Slurred speech ORPHA:98766
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... OMIM:616230
Giant Axonal Neuropathy
Spasticity, Falls, CNS hypomyelination, Difficulty walking, Abnormal cerebellum morphology, Dista... ORPHA:643
Autosomal Dominant Spastic Paraplegia Type 17
Ankle weakness, Postural tremor, Abnormal motor nerve conduction velocity, Foot dorsiflexor weakn... ORPHA:100998
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal upper limb muscle weakness, Decreased motor nerve conduction... ORPHA:99953
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca... ORPHA:300605
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Decreased motor nerve conduction velocity, Peripheral de... OMIM:145900
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia OMIM:614706
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di... OMIM:612674
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Hereditary Methemoglobinemia
Spasticity, Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Small for gestat... ORPHA:621
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ab... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Ankle weakness, Limb muscle weakness, Foot dorsiflexor... OMIM:118300
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Foot dorsiflexor weakness,... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, L... OMIM:620068
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Choreoathetosis, Familial Inverted
Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity OMIM:118750
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Undetectable ... ORPHA:1947
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118220
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Abnormal motor evoked potentials, Difficulty walking, Impaired tactile sensation, Abn... ORPHA:98
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait ataxia, EEG... OMIM:619323
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Difficulty walking, Dysmetria, Progressive gait ataxia, Clumsiness,... ORPHA:284332
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Cerebral hypomyelination,... OMIM:300475
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve... OMIM:614255
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity, Poor head control, Dystonia, Choreoathetosis OMIM:614932
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Failure to thr... ORPHA:369939
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Spastic ataxia, Spastic tetra... ORPHA:496756
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... OMIM:613724
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot dorsiflexor weaknes... OMIM:614436
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Myoclonus, Intention ... OMIM:618356
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio... ORPHA:289494
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, CNS hypomyelination, Dysmetria, Distal sensory impairment, Babinski sign, Low... OMIM:613206
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Chorea, Myoclonus, Limb dystonia, Axial dystonia, Cranio... ORPHA:508093
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Impaired pain sensatio... ORPHA:139578
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Cerebral corti... OMIM:238970
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia... ORPHA:52368
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Limb muscle weakness, Foot d... OMIM:118200
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hypsarrhyth... OMIM:613477
Autosomal Recessive Spastic Paraplegia Type 76
Limb ataxia, Gait ataxia, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia ORPHA:488594
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... OMIM:618276
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d... OMIM:611225
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Developmental And Epileptic Encephalopathy 93
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait... OMIM:618012
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Lower lim... OMIM:619389
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Arm dystonia, Undetectable visual evoked potentials, Episodic ataxia, Incoordinati... OMIM:601338
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Kaya-Barakat-Masson Syndrome
Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Scoliosis, ... OMIM:619125
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Delayed CNS myelination, Scolios... OMIM:619090
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hypogonadism, Hemiplegia/hemiparesis, Gait disturba... ORPHA:2815
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive c... ORPHA:98763
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, T... OMIM:619260
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Gait disturbance, Dystonia OMIM:620515
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impa... OMIM:618387
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality, Ataxia OMIM:610951
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle weakness, Decreased motor nerve conduction velocity OMIM:614751
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe... OMIM:617916
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... OMIM:229300
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... OMIM:613925
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexor weakness, Distal ... OMIM:604563
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Spasticity, CNS hypomyelination, Failure to thrive, Inability to walk, Delayed CNS myelination, E... OMIM:616577
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormal electroretinogram, Abnormality of visual evoked pot... ORPHA:1933
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... ORPHA:352596
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory imp... OMIM:162400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Speech apraxia, Ch... OMIM:615356
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Kyphosis, Chorea, Paresthesia, Abnormality of peripheral nerve conduct... ORPHA:48431
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiadochokinesis OMIM:615386
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Spasticity, Leukodystrophy, Babinski sign, Spastic ataxia, Abnormal pyramidal sign... OMIM:616859
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Somatic sensory dysfunction, Musc... ORPHA:101082
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Spina bifida occulta, Babinski sign, Lower limb spasticity, Ataxia, Optic di... OMIM:615281
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign, Abnormal cerebellum morphology ORPHA:85163
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Combined Oxidative Phosphorylation Defect Type 13
Failure to thrive, Decreased nerve conduction velocity, Limb dystonia, Poor head control, Delayed... ORPHA:319514
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Dystonia, ... OMIM:618285
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dys... OMIM:612319
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, CNS hypomyelination, Dysmetria, Proximal muscle weakness, Gowers sign,... OMIM:618863
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Pos... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Decreased motor nerve conduction velocity, Positive Romberg si... OMIM:601152
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action... ORPHA:457205
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Spasticity, Tip-toe gait, Decreased nerve conduction velocity, Gait ataxia, Dyston... ORPHA:309256
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, M... OMIM:614254
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Scoliosis, Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of amb... OMIM:618241
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Cerebellar atrophy, Ataxia, Scoliosis, Spastic tetraplegia OMIM:617207
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal sensory impairment, Proximal muscle weakness, D... OMIM:607831
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Fo... ORPHA:101076
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination OMIM:618185
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, EEG with burst suppression, Myoclonus, Cerebellar hypoplasia, Atrophy/Degener... OMIM:619971
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Decreased motor nerve... ORPHA:98856
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Developmental And Epileptic Encephalopathy 78
Spasticity, CNS hypomyelination, Cerebral palsy, Inability to walk, Chorea OMIM:618557
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, EEG abnormality, Hand tremor ORPHA:86814
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Myoclonus, Tremor OMIM:615400
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ... ORPHA:1175
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... OMIM:617810
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor... OMIM:125250
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal muscle weakness, Distal sensory impairment OMIM:608895
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Abnormal pyramidal sign, Ataxia, Unsteady gai... OMIM:256600
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Dystonia, Cerebellar hypoplasia, Ataxia, Trunc... OMIM:601238
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with gen... ORPHA:168491
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Difficulty walking, Decreased ... ORPHA:600
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Clumsiness, EEG abnormality, Increased neuronal autofluores... OMIM:610003
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Impaired distal vibration sensation, Decreased compound muscle... OMIM:619519
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormal electroretinogram, Gait disturbance, EEG abnormality, Hypertonia, Abnorma... ORPHA:2971
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Cerebral atrophy, EEG with burst suppression, Tremor, Cerebral hypomyelinatio... OMIM:612164
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Absent brainstem auditory responses, Ataxia, Temporal optic di... ORPHA:1215
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, EEG with focal epile... ORPHA:599373
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Failure to thrive, Decreased body w... OMIM:614559
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Adenylosuccinase Deficiency
Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Hemiple... OMIM:103050
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Spasticity, Abnormality of peripheral nerve conduction, Dystonia, Abnormal... ORPHA:35069
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, C... ORPHA:280210
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculomotor apraxia, Unsteady gait, T... ORPHA:453521
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Obesity, Lumbar hyperlordosis, Lower limb ... OMIM:616756
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:619576
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, EEG abnormality, Ataxia, ... OMIM:617829
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ... ORPHA:137898
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Upper limb hypertonia, Inability to walk, Babinski sign, Short neck, Optic d... OMIM:619328
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's ... OMIM:608105
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Inability to walk, Rigidity, Hypertonia, Scoliosis, Choreoathetosis OMIM:620023
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti... OMIM:224050
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Dysmetria, A... OMIM:617954
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Inability to walk, Kyphoscoliosis, Hypsarrh... OMIM:618006
Spinocerebellar Ataxia Type 11
Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:98767
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal EEG discharges with se... ORPHA:263516
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cerebellar atrophy, Failure to thrive, Tetraparesis, Corpus callosum atrophy, Atax... OMIM:619310
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Spasticity, Decreased nerve conduction velocity, Dystonia, Clumsiness, Babinski si... ORPHA:309263
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation... OMIM:616680
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive extrapyramidal movement disorder, Pseudobulbar paralysis, Difficulty walking, Dysmetr... ORPHA:438114
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Krabbe Disease
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe... OMIM:245200
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Myoclonus,... OMIM:619303
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... OMIM:218000
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Delayed CNS myelination, Head titubation... OMIM:618688
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign ORPHA:468661
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia OMIM:613402
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Delayed CNS myelination, EEG abnormality, Ataxia OMIM:271980
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Scoliosis, Cerebellar atrophy, Brain atrophy OMIM:618741
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, CNS hypomyelination, Cerebellar atrophy, Decreased motor nerve conduction velocity, F... OMIM:618186
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Ataxia OMIM:165500
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Delayed CNS myelination, Dys... OMIM:617132
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Upper limb hype... OMIM:607259
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, EEG abnormality, Ataxia, Dyston... OMIM:618218
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased nerve... OMIM:618138
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Muscle weakness, Truncal obesity ORPHA:2928
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination, Small for gestational age OMIM:618910
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, CNS hypomyelination, Ataxia OMIM:619688
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Gait ataxia, Cerebellar hypoplasia, EEG with focal spikes, Se... ORPHA:488635
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia OMIM:616366
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... OMIM:607346
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Cerebral atrophy, Decreased nerve conduction velocity, Leg d... ORPHA:565624
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Abnormal nervous system electrophysiology, Myoclonus, Increased extrane... OMIM:204500
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Gait ataxia ORPHA:404499
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Difficulty walking, Decreased nerve conduction velocity, Chorea, Dysto... ORPHA:309271
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Decreased distal sensory nerve action potential, Gait disturbance, Imp... OMIM:618400
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Cerebellar atrophy, Inability to walk, Appendicular spasticity, Delayed CNS myelin... OMIM:618324
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis OMIM:615159
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Head ... ORPHA:352641
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Gait disturbance, Ataxia, Dystonia, Choreoathetosis, Abnormality of vi... ORPHA:702
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, ... OMIM:162350
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, CNS demyelinatio... OMIM:611721
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Ce... OMIM:616420
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati... ORPHA:99949
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Gait disturbance, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis OMIM:618141
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Babinski si... OMIM:250100
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, EEG abnormality OMIM:617643
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Failure to thrive, Kyphosis, CNS demyelination, Dystonia, Spas... OMIM:618237
Intellectual Developmental Disorder, X-Linked 82
EEG abnormality, Scoliosis, Kyphosis OMIM:300518
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle... OMIM:605361
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cataplexy, Inabili... OMIM:617193
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Lethargy, Cerebral hypomyelination, Gait disturbance, CNS demyelinatio... OMIM:603896
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, G... OMIM:210000
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy, Clonus, Appendicular spasticity OMIM:620201
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Distal sensory impairment, A... OMIM:604187
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, Positive Rom... OMIM:616479
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Impaired pain sensa... OMIM:613640
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebral cortical atrophy, Involuntary movements, Optic atrophy, Cerebellar atrophy, Loss of ambu... OMIM:271245
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ... ORPHA:445062
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, CNS hypomyelination, Hypoplasia of the pons, Leukodystrophy, Cerebellar atrophy, K... OMIM:619708
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Upper limb muscle weakness, Lower limb muscle wea... ORPHA:320375
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe... OMIM:608703
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Failure to thrive, Abnormal motor nerve conduction velocity, Diaphragmatic... OMIM:614399
Huppke-Brendel Syndrome
Inability to walk, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:614482
Sialidosis Type 1
Abnormal form of the vertebral bodies, Decreased nerve conduction velocity, Myoclonus, Tremor, Ga... ORPHA:812
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Abnormal upper motor neuron morph... OMIM:606070
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Spasticity, Small for gestational age, Myoclonus, Lethargy, Hypsarrhyt... OMIM:617065
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Tremor, Ataxia OMIM:617831
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Cerebellar atrophy, Chorea, EEG with photoparoxysmal response, Cerebel... OMIM:619922
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... OMIM:616710
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Gait ataxia, Bab... OMIM:616192
Sandhoff Disease, Juvenile Form
Acroparesthesia, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Incoordination, Failure to... ORPHA:309162
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p... OMIM:617633
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Difficulty walking, Ataxia OMIM:619425
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia ORPHA:2579
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Failure to thrive, Leukodystrophy, Gait ataxia, Intention tremo... OMIM:617964
Adult Krabbe Disease
Spasticity, Broad-based gait, Tetraparesis, Peripheral demyelination, Impaired tactile sensation,... ORPHA:206448
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto... ORPHA:329284
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Difficulty walking, Neck muscle weakness, Impaired tacti... ORPHA:466768
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, EEG with polyspike wave complexes,... OMIM:618587
Sodium-Dependent Multivitamin Transporter Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebral palsy OMIM:618973
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impair... ORPHA:99013
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Foot do... ORPHA:329478
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Dysmetria, Hyperkinetic movements, Ce... OMIM:617302
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Impaired vibratory sensation, Broad-based gait, Upper limb muscle weakness, Difficulty walking, D... OMIM:620528
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, EEG abnormality, Ataxia, Bradykinesia OMIM:617836
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Opti... OMIM:619686
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Hypertonia, Cerebral dysmyelination ORPHA:1083
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Ataxia, Interictal e... OMIM:254800
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Spinocerebellar Ataxia Type 26
Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progressive cerebellar ataxia ORPHA:101112
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Leukodystrophy, Difficulty walking, Abnormal cerebellum morphology, Babinski sign, At... OMIM:618242
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Herniation of intervertebral nuclei, Abnormality of peripheral nerve conducti... ORPHA:101005
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Abnormal pyramidal sign, Leukodystrophy, Ataxia OMIM:619196
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:256840
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormal electroretinogram, Nonarteritic anterior ischemic optic neuropathy, Pseudobulbar paralys... OMIM:125310
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Spasticity, Leukodystrophy OMIM:616370
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Ba... OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, ... OMIM:606002
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Paresthesia, Gait ataxia, Limb ataxia, Distal sensory impair... OMIM:616719
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Hypsarrhythmia, Optic disc pallor OMIM:617086
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Sco... ORPHA:363717
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Spinocerebellar Ataxia 4
Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... ORPHA:2590
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Inability to walk, EEG with burst suppression, Chorea, Delayed CNS myelination,... OMIM:615473
Myoclonic Epilepsy, Familial Infantile
Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia OMIM:605021
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Myoclonus, Gait ataxia, Hemipar... OMIM:123400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Decreased number of large periphera... OMIM:617087
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Gait disturbance, Hypsarrhythmia, EEG abnorma... OMIM:617166
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Dystonia OMIM:619286
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, CNS hypomyelination, Inability to walk, Myoclonus, Delayed CNS myelination OMIM:616158
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Cerebral cortical atrophy, Hypoplasia of the pons, Hand tremor, Fasciculat... OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Decreased nerve conduction velocity, Limb muscle weakness, Diaphragmatic weakn... OMIM:604320
Friedreich Ataxia
Optic atrophy, Spasticity, Falls, Decreased motor nerve conduction velocity, Inability to walk, C... ORPHA:95
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor... ORPHA:529665
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Spasticity, Optic atrophy, CNS hypomyelination, Babinski sign, Frontal... OMIM:618437
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Slurred speech, Ataxia ORPHA:972
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
CNS hypomyelination, Cerebellar atrophy, Inability to walk, Gait ataxia, Opisthotonus, Delayed CN... OMIM:619580
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Tetraparesis, Decreased nerve conduction veloci... ORPHA:85446
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Diffuse cerebellar atrophy, Broad-based gait, Progressive truncal ataxia, Difficulty walking, Dys... ORPHA:363429
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor, Rigidity, Cerebellar hypoplasia, Ce... ORPHA:33445
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... ORPHA:251347
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata... ORPHA:352403
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Global brain atrophy, CNS hypomyelination, Failure to thrive, Difficulty walking, Ina... ORPHA:481152
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, ... OMIM:616505
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, CNS hypomyelination, Hand apraxia, Difficulty walking, Inability to walk, Ba... ORPHA:280229
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Tremor, Dystonia, Gait disturb... ORPHA:512
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... ORPHA:254343
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Spasticity, Abnormality of visual evoked potentials OMIM:609304
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Decreased nerve conduction velocity, Progressive distal muscle weakne... ORPHA:397744
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu... OMIM:605259
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, EEG abnormality, Hypertonia ORPHA:141
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentia... OMIM:616648
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Ataxia ORPHA:1186
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Inability to walk, Hyperkinetic movements, Delayed CNS myelination, Hypsarrhythmia OMIM:618374
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, CNS hypomyelination, Failure to thrive, Cerebral atrophy, Chorea, Limb... OMIM:616339
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Decreased compound muscle action potential amplitude, Loss of am... OMIM:603511
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramida... OMIM:618438
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, EEG abnormality, Hypert... ORPHA:71277
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:85317
Lissencephaly 8
Optic atrophy, Appendicular spasticity, Cerebellar hypoplasia, Cerebral hypomyelination, Retrocer... OMIM:617255
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait imbalance, Gait ataxia, In... ORPHA:98761
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Kyphoscoliosis, Hyperkinetic moveme... ORPHA:561854
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor... OMIM:607454
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Inability to walk, Delayed CNS myel... OMIM:617481
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic movem... OMIM:619317
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:100989
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Decreased number ... OMIM:615490
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... OMIM:609033
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Leukodystrophy, Cerebral atroph... OMIM:616034
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Hypertonia OMIM:618730
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... OMIM:215470
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Difficulty walking, Abnormal cerebel... OMIM:275900
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Spasticity, Frontotemporal cerebral atrophy, CNS hypomyelination OMIM:618559
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Limb ataxia, Undetectable visual evoked potentials OMIM:619051
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, Myoclonus, Babinski sign, Apraxia, Gait disturbance, CNS demyelination... OMIM:618193
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Global brain atrophy, Cerebellar vermis atrophy, Impaired vibration s... ORPHA:94124
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Cerebellar atrophy, Failure to thrive, Leukodystrophy, Babinski sign, Lethargy, At... OMIM:618226
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Somatic sensory dysfunction, Fasciculations, Ankle clonus, Scoliosis OMIM:620323
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Short neck ORPHA:320385
Charcot-Marie-Tooth Disease Type 1E
Acroparesthesia, Difficulty walking, Inability to walk, Impaired vibration sensation in the lower... ORPHA:90658
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Severe demyelination of the white matter... OMIM:236792
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Myoclonus, Babinski sign, A... OMIM:620538
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidi... ORPHA:254886
Perrault Syndrome 1
Cerebellar atrophy, Gait ataxia, Ataxia, Scoliosis, Intention tremor, Spastic diplegia OMIM:233400
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor... ORPHA:504476
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... OMIM:221820
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Difficulty... ORPHA:442835
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Cerebellar vermis atrophy, Paresthesia, G... ORPHA:466794
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor, Delayed CNS myelination, Ataxia OMIM:300983
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... OMIM:618527
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive OMIM:615596
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Hypertonia ORPHA:1389
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle clonus, Progressive gait ataxia... ORPHA:284289
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Proximal muscle weakness, Respirato... OMIM:159950
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, CNS hypomyelination, Failure to thrive, Cerebral atrophy, Myoclonus, Spastic tetra... OMIM:614261
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme... ORPHA:88644
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... ORPHA:216866
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Cerebral atrophy, Inability t... OMIM:617013
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, EEG with polyspike wave complexes, EEG abnormality, Ataxia, Poor... OMIM:617665
Ddost-Cdg
Oromotor apraxia, CNS hypomyelination, Failure to thrive, Tremor ORPHA:300536
Cednik Syndrome
Poor head control, Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... OMIM:618317
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Alexander Disease
Spasticity, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Diffuse demyelination ... OMIM:203450
Leukodystrophy, Hypomyelinating, 14
Dystonia, Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Caribbean Parkinsonism
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... ORPHA:97355
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Spasticity, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, ... ORPHA:485421
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl... OMIM:617854
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Lower limb spasticity, Steppage ga... OMIM:615290
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Poor head control, Dystonia OMIM:619651
Spinocerebellar Ataxia 26
Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Combined Oxidative Phosphorylation Deficiency 45
Muscle weakness, Failure to thrive, Tremor, Ataxia OMIM:618951
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Spasticity, Cerebellar atrophy, EEG with polyspike wave complexes,... OMIM:620540
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Neurodegeneration, Neuronal l... OMIM:616239
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Ataxia, Abnormal CNS myel... OMIM:610651
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cerebellar hypoplasia, CNS hypomyelination OMIM:620425
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Distal upper limb muscle weakness, Generalized dystonia, Inability to walk, Dystonia,... OMIM:619653
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Abnormal nerve conduction velocity, Painless fractures due to injury, Impaire... OMIM:243000
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Hypoplasia of the pons, Hand tremor, Parietal cortical atrophy, Difficulty wa... ORPHA:412057
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evo... OMIM:617523
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Optic Atrophy 5
Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor OMIM:610708
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Failure to thrive, Tetraparesis, Gait ataxia, Cogwheel rigidity, Myocl... ORPHA:225154
Infantile Krabbe Disease
Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t... ORPHA:206436
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig... ORPHA:477673
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebellar vermis atrophy, CNS hypomyelination, Cerebral atrophy OMIM:615760
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Global brain atrophy, Failure to thrive, Myoclonus, Multifocal epileptiform discha... OMIM:609056
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Cerebral atrophy, Decreased nerve conduction velocity, Periphera... OMIM:609136
Episodic Ataxia, Type 5
Episodic ataxia, EEG with spike-wave complexes, Myoclonus, Ataxia, Truncal ataxia, EEG with gener... OMIM:613855
Infantile Spasms Syndrome
Hypsarrhythmia, Myoclonus ORPHA:3451
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab... ORPHA:500180
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Failure to thrive... OMIM:618922
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic... ORPHA:280763
Sandhoff Disease
Ataxia, Spasticity, CNS hypomyelination, Fasciculations, Impaired temperature sensation, Orthosta... OMIM:268800
Epilepsy, Progressive Myoclonic, 9
Frequent falls, Gait ataxia, Myoclonus, Action myoclonus, Scoliosis OMIM:616540
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... OMIM:602433
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Dystonic gait, Limb hypertonia, EEG abnormality, Abnormality of visual evoked pote... ORPHA:480898
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Optic atrophy, Cerebellar atrophy, Cataplexy, Fasciculatio... ORPHA:496641
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... ORPHA:98772
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Gait ataxia, Dista... OMIM:614871
Glut1 Deficiency Syndrome 2
Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... ORPHA:99750
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral hypomyelination, Abnormal autonomic nervo... OMIM:616683
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral atrophy,... OMIM:617710
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a... OMIM:604391
Continuous Spikes And Waves During Sleep
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Speech a... ORPHA:725
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Spasticity, Failure to thrive, Delayed CNS myelination, Clonus, Hypsarrhythmia, Hypertonia OMIM:613668
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Cerebral atrophy, Myoclonus, Short neck, Ataxia OMIM:612015
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Global brain atrophy, Failure to thrive, Leukodystrophy, Sudanophilic leukod... OMIM:260600
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Decreased amplitude of sensory action potentials, Inability to walk, Trophic ... ORPHA:36386
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dystonia, Choreoathetosis OMIM:618247
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617915
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing, Tremor OMIM:304700
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Babinski sign, Orthostatic hypotension, Abnormal autonomic nervous system physiolo... OMIM:231550
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Gait ataxia, Myoclonus, Limb dystonia, ... ORPHA:101150
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... ORPHA:401768
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Ataxia, Abnormal CNS myelination, Dystonia, Athetosis OMIM:612951
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Lower limb spasticity, Gait disturbance, Hyperlordosis, Scoliosis, Kyphosis, Spinal... OMIM:617404
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Difficulty walking, Babinski sign, Hoffmann sign, Fasciculations OMIM:620402
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Leukodystrophy, Myoclonus, Babinski sign, Loss of ability to w... ORPHA:401866
Pontocerebellar Hypoplasia, Type 6
Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Failure ... OMIM:611523
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of... OMIM:183086
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... ORPHA:459056
Yuan-Harel-Lupski Syndrome
Broad-based gait, Failure to thrive, Decreased nerve conduction velocity, Gait ataxia, Distal sen... OMIM:616652
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Spasticity, Global brain atrophy, Inability to walk, Limb dystonia, EE... ORPHA:457351
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrap... OMIM:204200
Peho-Like Syndrome
Optic atrophy, Hypsarrhythmia, Myoclonus, Cerebellar atrophy OMIM:617507
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Abnormality of the cervical spine, P... ORPHA:306511
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Atrophy/Degeneratio... OMIM:619606
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Tongue fasciculations, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clums... ORPHA:98768
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Dystonia OMIM:618917
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Chorea, Delayed CNS myelination, Hypsarrhythmia, Athetosis, Choreoathetosis OMIM:309541
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemipar... OMIM:615338
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Spasticity, Cerebral atrophy, Myoclonus, EEG abnormality, Increased neuron... OMIM:256730
Dpagt1-Cdg
Cerebral cortical atrophy, Optic atrophy, Global brain atrophy, CNS hypomyelination, Failure to t... ORPHA:86309
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Obesity, Delaye... ORPHA:464282
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Leukodystrophy OMIM:616763
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Ky... ORPHA:319199
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spasticity, Cerebral atrophy, Cerebellar vermis atrophy, Delayed CNS myelination, Spastic tetrapa... OMIM:616154
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Increased neur... OMIM:204300
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Facial diplegia, Kyphoscoliosis, Cerebellar... ORPHA:370980
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni... OMIM:137440
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Leukodystrophy, Inability to walk, Babinski sign, Delayed CNS myelination, Cl... OMIM:300523
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Spastic tetraparesis, Cerebellar atrophy, Dandy-Walker malformation ORPHA:438178
Valinemia
Hyperkinetic movements, Failure to thrive OMIM:277100
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Cerebellar atrophy, Babinski sign, Clonus, EEG abnormality, Dystonia, Progressive ... OMIM:618868
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Optic nerve hypoplasia OMIM:614306
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Interictal EEG abnormality, Clumsiness, Gait d... ORPHA:352582
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Loss o... OMIM:615838
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Kyphosis, Gener... ORPHA:171629
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Myoclonus OMIM:260565
Phenylketonuria
Lower limb spasticity, EEG abnormality, Tremor, Ataxia ORPHA:716
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Autosomal Recessive Spastic Paraplegia Type 78
Cerebral cortical atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking... ORPHA:513436
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, EEG with generalized slo... OMIM:300055
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, Axia... OMIM:619026
Cach Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Limb ... ORPHA:135
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Cerebellar hypoplasia, Short neck, CNS hypomyelination, Hypertonia OMIM:618622
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Tremor, Cerebellar hypoplasia, Delayed CNS myelination, Hyp... OMIM:619556
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Failure to thrive, G... ORPHA:543470
Harel-Yoon Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Ataxia, Dystonia, Scoliosis OMIM:617183
Episodic Ataxia, Type 6
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Truncal atax... OMIM:612656
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Kyphoscoliosis, Dystoni... OMIM:617664
Joubert Syndrome 25
Oculomotor apraxia, Ataxia OMIM:616781
Marinesco-Sjogren Syndrome
Spasticity, Cerebellar atrophy, Failure to thrive, Limb ataxia, Gait ataxia, Ataxia, Cerebellar c... OMIM:248800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Rigidity, Dys... OMIM:258450
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Dysmetria... OMIM:618170
Isaacs Syndrome
Weight loss, EEG abnormality, Distal sensory impairment, Fasciculations ORPHA:84142
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A... OMIM:614298
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Myoclonus,... OMIM:250620
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Pseudobulbar paralysis, Dysmetria, Abnormality of extrapyramidal motor function, ... OMIM:616140
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, EEG with occipital epileptiform discharges, Dysmetria, Gait ataxia, Tre... ORPHA:254881
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis OMIM:618497
Episodic Ataxia Type 1
Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Hypertonia, Poor coordination, Scol... ORPHA:37612
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Cerebral cortical atrophy, Chorea, Myoclonus, Lower limb spasticit... ORPHA:485350
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor, Hypergonadotropic hypogonadism OMIM:614307
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Myoclonus, Limb tremor, Hypertonia, Interictal epileptiform activity OMIM:300699
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Delayed CNS myelination, Optic disc pallor, Athetosis, Dandy-Walker malformation OMIM:617235
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Abnormal cereb... OMIM:169500
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Ataxia, Dystonia, Spastic diplegia OMIM:619065
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormal electroretinogram, Limb hypertonia, Dystonia, Abnormality of visual evoke... OMIM:616875
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Decreased motor nerve conduction velocity, Paresthesi... ORPHA:298
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Global brain atrophy, Spastic tetraplegia OMIM:613721
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Progressive spastic paraplegia, Ataxia OMIM:612020
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Episodic Ataxia Type 6
Cerebellar atrophy, Hemiplegia, Slurred speech, Ataxia ORPHA:209967
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Limb hypertonia, Spastic tetraplegia, Abnormality of visual evoked potentials OMIM:614457
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Cervical spinal cord atro... ORPHA:363722
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Delayed CNS m... OMIM:615095
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Undetectable visual evoked potentials, Poor fine motor coordination ORPHA:436245
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, EEG with burst suppression, Lethargy, Leukodystrophy OMIM:613163
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclonus, Decreased body weight, Hypsar... OMIM:619060
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait ORPHA:2585
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Diffuse cerebellar atrophy, Involuntary movements, Tetraparesis, Diff... ORPHA:477774
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hengel-Maroofian-Schols Syndrome
Spasticity, Abnormal CNS myelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Ga... OMIM:619641
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, External ophthalmoplegia, Tetraparesis, Inability to walk, Chorea, Gait ataxi... OMIM:607483
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Thoracic scoliosis, ... OMIM:616171
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Cachexia, Aplasia/Hypoplasia of the c... ORPHA:85278
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Hemimegalencephaly
Optic atrophy, Hemihypsarrhythmia, Interictal EEG abnormality, EEG with burst suppression, Myoclo... ORPHA:99802
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty walking, Inability to walk, ... OMIM:611890
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo... OMIM:300957
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Facial diplegia, Cerebral atrophy OMIM:616286
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Cerebellar atrophy, Cerebral atrophy OMIM:619605
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Babinski sign, Dystonia, Spastic tetraplegia, Cerebral dysmyel... OMIM:252650
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Developmental And Epileptic Encephalopathy 42
Tremor, EEG abnormality, Hypertonia, Ataxia, Athetosis OMIM:617106
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myocl... OMIM:617282
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Myoclonus, Failure to thrive, Hypertonia OMIM:610090
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Cerebral cortical atrophy, CNS hypomyelination, Myoclonus, Lethargy, Delay... OMIM:614922
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment,... OMIM:610127
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Hypoplastic cervical vertebrae, Cerebral atrophy, Leukodystrophy, Limb dyston... OMIM:620269
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphol... OMIM:105550
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Impaired pain sensation, Abnormality of visual evoked potentials ORPHA:314389
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Fucosidosis
Anterior beaking of lumbar vertebrae, Anterior beaking of thoracic vertebrae, CNS hypomyelination... OMIM:230000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Focal EEG discharges with secondary generalizat... ORPHA:3077
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276244
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Gait disturbance, Multifocal epileptiform discharges... ORPHA:505652
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra... ORPHA:247234
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Vestibular nystagmus, Progressive extr... ORPHA:282166
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, EEG with burst suppression, Dystonia, Abnormal pyramidal sign, Delayed CNS ... OMIM:308350
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady... OMIM:618124
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Kyphoscoliosis, Cer... OMIM:616354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Hyperlordosis, Vertebral fusion,... OMIM:606612
Galloway-Mowat Syndrome 2, X-Linked
Spasticity, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Scoliosis OMIM:301006
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Amyotrophic Lateral Sclerosis 28
Difficulty walking, Babinski sign, Chaddock reflex, Fasciculations OMIM:620452
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Abnormal cerebellar ve... ORPHA:324737
Huntington Disease
Involuntary movements, Degeneration of the striatum, Decreased body mass index, Cerebral atrophy,... ORPHA:399
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Aganglionic megacolo... ORPHA:247262
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic par... ORPHA:329308
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Alg2-Cdg
Cerebral hypomyelination, Hypsarrhythmia ORPHA:79326
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Decrease... OMIM:608027
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Scoliosis, Cerebellar atrophy, Ataxia OMIM:611182
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Cerebellar atrophy, Dysmetria, Ataxia OMIM:618098
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Failure to thrive, Myoclonus, Gait ataxia, Delayed CNS myelination OMIM:620145
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Dysmetria, Ataxia OMIM:618384
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Gait ataxia, Loss of... OMIM:620089
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Interictal EEG abnormality, Positive Romberg sign, Myoclonus, Dysmetria, Inte... OMIM:301310
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Developmental And Epileptic Encephalopathy 51
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Inability to walk, Babinski sig... OMIM:617339
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination, Failure to thrive OMIM:614883
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Myoclonus, Tremor, Limb muscle weakness, Bulbar palsy, Cachexi... ORPHA:97229
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Impaired pain sensation ORPHA:2926
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Decreased compound muscle action potential amplitude, Facial palsy, Scolio... OMIM:301830
Spinocerebellar Ataxia Type 6
Blepharospasm, Incoordination, Gait ataxia, Dystonia, Babinski sign, Unsteady gait, Intention tre... ORPHA:98758
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Ataxia, Optic disc pallor, Sp... OMIM:612936
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Abnormality of pattern visual evoked potentials, Abnormality of extrapyramidal... ORPHA:2822
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Babinski sign, Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic tetraplegia OMIM:619071
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, CNS hypomyelination, Cerebellar atrophy, EEG with generalized slow activity, Cerebral... OMIM:618367
Leukodystrophy, Hypomyelinating, 4
Spastic paraplegia, Leukodystrophy, Babinski sign, Head titubation, Poor head control, Progressiv... OMIM:612233
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Chin myoclonus, Falls ORPHA:139426
Developmental And Epileptic Encephalopathy 65
Spasticity, Cerebellar atrophy, Cerebral atrophy, EEG with burst suppression, Hypsarrhythmia OMIM:618008
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Tremor, Cerebellar hypoplasia, Lumbar kyphoscoliosis, Ataxia, Dy... OMIM:619422
Early Myoclonic Encephalopathy
Hypsarrhythmia, Lethargy, Myoclonus, EEG abnormality ORPHA:1935
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Orofaciodigital Syndrome Xvii
Short neck, CNS hypomyelination, Decreased body weight OMIM:617926
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine motor coordination OMIM:618800
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Limb dysmetria, Positive Romberg sign, Dysmetria, Abnormality of ce... ORPHA:94125
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Abnormality ... OMIM:614739
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Myoclonus, Exaggerated startle response ORPHA:309155
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, EEG with spike-wave complexes, Myoclonus, Morning myoclonic jerks, EEG with poly... OMIM:607682
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ataxia OMIM:545000
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Hyperkinetic movements, Neuronal loss in central nervo... OMIM:300243
Acromicric Dysplasia
Decreased nerve conduction velocity, Ovoid vertebral bodies ORPHA:969
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Interictal EEG abnormality, EEG with focal epi... ORPHA:544503
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Decreased compound muscle action potential amplitude OMIM:618323
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Failure to thrive, Leukodystrophy, Progressive spastic quadriplegia, Dystonia... ORPHA:431361
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity, Atroph... ORPHA:139480
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Spasticity, Inability to walk, Cerebellar vermis atrophy, Dysmetria, Cerebellar hypoplasia, Oculo... OMIM:618087
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Leukodystrophy, Myoclonus, Lethargy, Ataxia, Brain atrophy OMIM:618225
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276241
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior beaking of lumbar vertebrae,... OMIM:230650
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Interictal EEG abnormality, Loss o... ORPHA:79264
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Failure to thrive in infancy, Decreased nerve conduction velocity, Foot dorsifl... ORPHA:477817
Developmental And Epileptic Encephalopathy 27
Spasticity, Chorea, Myoclonus, Hypsarrhythmia, Dystonia OMIM:616139
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Familial Or Sporadic Hemiplegic Migraine
Tongue fasciculations, Involuntary movements, Spontaneous pain sensation, Facial paralysis, Alien... ORPHA:569
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Fasciculations OMIM:271200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis, Waddling gait OMIM:618392
Multiple Sclerosis, Susceptibility To
Spasticity, Incoordination, Paresthesia, CNS demyelination, Muscle weakness OMIM:126200
Lennox-Gastaut Syndrome
Falls, Myoclonus, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebellum morphology, Abnorm... ORPHA:356
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Cerebral atrophy, Chorea, Spastic tetraparesis, Hemiballismus OMIM:618567
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Pyruvate Carboxylase Deficiency
CNS hypomyelination, Tip-toe gait, Failure to thrive, Tremor, Abnormal pyramidal sign, Ataxia, Ce... ORPHA:3008
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Poliomyelitis
Muscle flaccidity, Lower limb muscle weakness, Fasciculations, Inability to walk, Upper limb musc... ORPHA:2912
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia OMIM:271250
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... ORPHA:99956
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal pyramidal sign, Spina... ORPHA:93476
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, EEG with burst suppression, Cerebellar hypoplasia, Diffuse demyel... ORPHA:168486
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma... ORPHA:70594
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Tremor, Spastic tetraparesis OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Cerebellar atrophy, Failure to thrive, Akinesia, Optic disc pallor, Lower limb spa... OMIM:618249
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Spasticity, Falls, Leukodystrophy, Ataxia, Poor head control, Dystonia OMIM:619224
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Babinski sign, Clumsiness, Gait dist... OMIM:619259
Developmental And Epileptic Encephalopathy 54
Delayed myelination, Myoclonus, EEG abnormality OMIM:617391
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Kyphosis, Failure to thrive, Inability to walk, Cerebellar vermi... OMIM:617988
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Decreased motor nerve conduction ve... OMIM:615663
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Failure to thrive in infancy, EEG with focal sharp waves, Myoclonus... ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iin
Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Cerebral atrophy OMIM:616721
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Cerebellar vermis hypoplasia, CNS hypomyelination, Brain atrophy OMIM:615966
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Obesity, Cerebellar hypoplas... OMIM:618443
Cerebrotendinous Xanthomatosis
Spasticity, Cerebellar atrophy, Cerebral atrophy, Pseudobulbar paralysis, Difficulty walking, EEG... OMIM:213700
Developmental And Epileptic Encephalopathy 41
Spasticity, Cerebral atrophy, Tetraparesis, Inability to walk, Kyphoscoliosis, Babinski sign, Let... OMIM:617105
Classic Galactosemia
Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Primary amenorrhe... ORPHA:79239
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Babinski sign, Clonus, Limb hypertonia, Optic disc pallor,... ORPHA:423479
Autosomal Dominant Spastic Paraplegia Type 9B
Focal dystonia, Postural tremor, Upper motor neuron dysfunction, Loss of ambulation, Progressive ... ORPHA:447757
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor... OMIM:618060
Bickerstaff Brainstem Encephalitis
Sensory ataxia, Facial paralysis, Decreased motor nerve conduction velocity, Tetraparesis, Abnorm... ORPHA:79138
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Failure to thrive, Cerebr... OMIM:216400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Scoliosis, Spa... OMIM:615419
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign OMIM:619780
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Smith-Magenis Syndrome
Pain insensitivity, Abnormal nerve conduction velocity, Impaired pain sensation, Increased body w... OMIM:182290
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Congenital Disorder Of Glycosylation, Type Iii
Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy OMIM:613612
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Babinski s... ORPHA:204
Dravet Syndrome
Global brain atrophy, EEG with generalized epileptiform discharges, Incoordination, Cogwheel rigi... ORPHA:33069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Tetraparesis, Difficulty walking, Ankl... OMIM:613954
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ... OMIM:610217
Aicardi-Goutieres Syndrome 4
Spasticity, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dystonia OMIM:610333
Bile Acid Synthesis Defect, Congenital, 6
Gait ataxia, Slurred speech, Dysmetria, Ataxia OMIM:617308
Saccharopinuria
Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia ORPHA:3124
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Brain atrophy, Th... OMIM:619092
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Kyphosis, Failure to thrive, Cerebral atrophy... OMIM:133540
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Failure to thrive, Hypoplasia of the pons, Cerebellar hypoplasia, Delayed my... ORPHA:88618
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Overweight, Upper limb sp... ORPHA:457240
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Hyperkinetic movements, Lethargy, Gait disturbance, Hypertonia OMIM:236270
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Optic atrophy, Cerebellar atrophy, Limb hypertonia, Unilateral facial palsy, Torticollis, Ataxia,... OMIM:618547
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Familial Paroxysmal Ataxia
Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia ORPHA:97
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Tryptophanuria With Dwarfism
Gait disturbance, Ataxia OMIM:276100
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Delayed CNS myelination, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Delayed CNS myelination, Ataxia, Dystonia OMIM:620094
Pontocerebellar Hypoplasia, Type 2B
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cerebella... OMIM:612389
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Mixed demyelinating and axonal polyneuropathy, Generalized dystonia, Cerebral... ORPHA:412217
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Piebald Trait With Neurologic Defects
Ataxia OMIM:172850
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, EEG with burst suppression, Cogwh... ORPHA:79139
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls OMIM:615217
Leukodystrophy, Childhood-Onset, Remitting
Gait disturbance, Leukodystrophy OMIM:619864
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Shuffling gait, Spastic paraparesis, Spasticity, Hand tremor, Rigidity, Dystonia, ... ORPHA:289560
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized epileptiform discharges, Cerebral palsy, Cerebellar vermis atrophy, EEG with... ORPHA:163681
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thri... OMIM:618065
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Failure to thrive, Dysmetria OMIM:618251
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy, Hypsarrhythmia, Limb hypertonia, Optic disc pallor OMIM:617276
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Spastic gait, Scoliosis, Optic nerve ... ORPHA:496790
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Diffuse demyelination of the cer... ORPHA:77299
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia, Hypertonia ORPHA:79323
Liang-Wang Syndrome
Dystonia, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:618729
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Dystonia OMIM:616684
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Gait imbalance, Postural tremor, Babinski sign, Abnorma... ORPHA:64753
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia OMIM:614863
Ruvalcaba Syndrome
Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:3121
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Delayed C... OMIM:616299
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C... OMIM:225753
White-Sutton Syndrome
Optic nerve hypoplasia, Abnormal electroretinogram, Abnormality of visual evoked potentials, Wadd... OMIM:616364
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, EEG with spike-wave complexes, Tremor, Ataxia, Generalized cerebral atrophy/hypop... ORPHA:36387
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Myoclonus, Atrophy/Degeneration affecting the brainstem, A... ORPHA:95428
Flynn-Aird Syndrome
Cerebral cortical atrophy, Impaired pain sensation, Cachexia, EEG abnormality, Ataxia, Scoliosis,... ORPHA:2047
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Trunca... ORPHA:247815
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Dysmetria, Cerebellar hemisphere hy... ORPHA:456312
Spinocerebellar Ataxia 47
Spasticity, Cerebellar vermis atrophy, Chorea, Dysmetria, Ataxia OMIM:617931
Multiple Mitochondrial Dysfunctions Syndrome 5
Spasticity, Delayed myelination, Leukodystrophy OMIM:617613
Cog7-Cdg
Cerebellar atrophy, Failure to thrive, Brain atrophy, Short neck, Subcortical cerebral atrophy, S... ORPHA:79333
Combined Oxidative Phosphorylation Deficiency 53
Spasticity, CNS hypomyelination, Failure to thrive OMIM:619423
Cockayne Syndrome
Spasticity, Difficulty walking, Action tremor, Cachexia, Demyelinating peripheral neuropathy, Ata... ORPHA:191
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Cerebral hypomyelination, Myoclonus, Spasticity OMIM:612949
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Global brain atrophy, Failure to thrive, Cerebral atrophy, Inability to walk, Facial ... OMIM:612073
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Cerebellar atrophy, Cerebral atrophy OMIM:619690
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, EEG with spike-wave complexes, EEG ... ORPHA:139431
Glutamine Deficiency, Congenital
CNS hypomyelination, Brain atrophy OMIM:610015
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cerebral atrophy, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia, Scoliosis ORPHA:369847
Hyperekplexia 4
Cerebral atrophy, Myoclonus, Kyphoscoliosis, Hypsarrhythmia, Hypertonia OMIM:618011
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, CNS hypomyelination, Dilated fourth ventricle, Cerebellar hypoplasi... OMIM:619306
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Myoclonus, Diffuse cerebral atrophy, EEG with multifocal slow activity, Hypertonia, Abnormal myel... ORPHA:289266
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerated st... OMIM:609541
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Failure to thrive, Cerebral hypomyelination, Hypertonia, Athetosis, Delayed myelinati... ORPHA:79351
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Hemiparesis, Gait disturbance,... ORPHA:98673
Developmental And Epileptic Encephalopathy 103
Continuous spike and waves during slow sleep, EEG with burst suppression, EEG with polyspike wave... OMIM:619913
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inabilit... ORPHA:845
Slc35A2-Cdg
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Failure to thrive in infancy, EEG with f... ORPHA:356961
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Dpm1-Cdg
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Pontocerebell... ORPHA:79322
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Rigidity, Loss of ambulation, Dystonia OMIM:615010
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech OMIM:206700
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Spasticity, Dysmetria, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Dif... OMIM:600142
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, ... ORPHA:95433
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Pontocerebellar Hypoplasia, Type 2E
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclonus, Op... OMIM:615851
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Pseudobulbar paralysis, Difficulty walking, Parapl... ORPHA:99857
Baralle-Macken Syndrome
Spasticity, Inability to walk, Obesity, Dystonia, Kyphosis OMIM:619255
Superficial Siderosis
Cerebellar atrophy, Impaired pain sensation, Abnormality of the vestibulocochlear nerve, Impaired... ORPHA:247245
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Gait ataxia, Cachexia, EEG abnormality, Gait apraxia, Trun... OMIM:312750
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Neuromyotonia, Distal sensory impairment, Fasciculations OMIM:137200
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Peripheral... OMIM:618733
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Kyphoscolios... OMIM:214150
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Abnormal pyramidal sign, Gait disturbance, Ataxia, ... ORPHA:765
Isolated Atp Synthase Deficiency
Spastic paraplegia, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Lethargy, Tetra... ORPHA:254913
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Neurodegener... ORPHA:391428
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Gait imbalance, Abnormal cerebellum morphology, Ankle clonus, Clumsiness, ... OMIM:211530
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyra... OMIM:615673
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, Pontocerebellar at... OMIM:620428
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Leukodystrophy, Babinski sign, CNS demyelination, Hypertonia, Dystonia OMIM:264470
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Decreased nerve conduction velocity, Small for gestational age OMIM:615368
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Speech apraxia, Intention tremor, Dysmetria, Ataxia OMIM:619352
Pontocerebellar Hypoplasia Type 4
Myoclonus, Olivopontocerebellar hypoplasia, Hypertonia ORPHA:166063
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... OMIM:602099
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Ankle clonus, Babinski s... OMIM:618397
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Spastic paraparesis, Leukodystrophy, Ataxia OMIM:277580
Schilder Disease
Ankle clonus, CNS demyelination, Muscle weakness, Ataxia ORPHA:59298
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Abnormal flash visual evoked potentials OMIM:618195
Microtriplication 11Q24.1
Speech apraxia, Obesity, Hyperkinetic movements, Short neck, Scoliosis, Retrocerebellar cyst ORPHA:289522
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Lethargy, Dyston... OMIM:312170
Micro Syndrome
Optic atrophy, Spasticity, Abnormality of visual evoked potentials ORPHA:2510
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, EEG with burst suppression, U... ORPHA:1934
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Ophthalmoplegia, CNS demyelination, Ataxia, Dystonia OMIM:256000
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Delayed C... OMIM:617804
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Hypoplastic vertebral... OMIM:272200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Hyperl... ORPHA:1192
Scholte Syndrome
Abnormal pyramidal sign, Cerebellar atrophy, Kyphoscoliosis OMIM:300977
East Syndrome
Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Peripheral hypomyelinat... ORPHA:199343
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal s... OMIM:616840
Scheie Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Cerebral palsy ORPHA:93474
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination, Intention tremor, Muscle weakness OMIM:619322
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Inabilit... OMIM:618143
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Gait ataxia, Myoclonus, Trem... ORPHA:363400
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Dilated f... ORPHA:572798
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Myoclonus, Abnormal autonomic nervous system physiology, At... ORPHA:163921
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Cerebellar atrophy, Failure to thrive, Leukodystrophy, Cerebral atroph... OMIM:615471
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, O... OMIM:606071
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Akinesia, Paresthesia, Cogwhe... ORPHA:97349
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Progressive gait ataxia, Babinski sign, Myoclonic spasms, Cort... ORPHA:644
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Optic atrophy, Difficulty walking, Ga... OMIM:617807
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Obesity, Gait imbalance, Myoclonus, Tremo... ORPHA:98794
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Cerebellar atrophy, Decreased body weight, Abnormal pyramidal sign, EEG abnormality, ... OMIM:614833
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Spasticity, EEG abnormality, Tremor OMIM:618718
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Inability to walk, Myoclonus, Hypsarrhythmia,... ORPHA:411986
Episodic Ataxia, Type 2
Episodic ataxia, Cerebellar vermis atrophy, Paresthesia, Dystonia, Progressive cerebellar ataxia OMIM:108500
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordination ORPHA:544254
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Spasticity, Cerebellar atrophy, Delayed CNS myelination, Abnormal autonomic nervou... ORPHA:466934
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Steppage gait, Abnormality of peripheral nerve conduction, Dista... ORPHA:168563
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, G... OMIM:248500
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Myoclonus, Hypoplasia of the pons OMIM:615859
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Spasticity, Cerebellar atrophy, Cerebral atrophy, Oculomotor apraxia, Cere... OMIM:614678
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Failure to thrive, Pontocerebellar atrophy, Tremor, EEG abnormality, Ataxia OMIM:608799
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclonus, Appendicul... OMIM:620451
Chédiak-Higashi Syndrome
Spastic paraplegia, Cerebellar atrophy, Somatic sensory dysfunction, Inability to walk, Decreased... ORPHA:167
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... ORPHA:478029
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Fasciculations, Cranial nerve... ORPHA:52430
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, EEG abnormality, Sco... OMIM:301900
Galloway-Mowat Syndrome 10
Delayed CNS myelination, Myoclonus, Cerebral atrophy, Cerebellar atrophy OMIM:619609
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed... OMIM:616811
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Foot dorsiflexor weakness, Tremor, Gait disturbance, Ataxia,... OMIM:214500
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Spasticity, Leukodystrophy, Myoclonus, Abnormality of extrapyramidal motor functio... OMIM:614299
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypsarrhythmia, Hypertoni... OMIM:601110
Mogs-Cdg
Optic atrophy, Dystonia, Absent brainstem auditory responses, Abnormality of visual evoked potent... ORPHA:79330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Cerebral atrophy, Large for gestational age, Ankle clonus, Cerebellar hypopla... OMIM:615398
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia, Intention tremor, Dysmetria, ... ORPHA:93256
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Scoliosis, Chorea, Myoclonus, Action tremor, Dysmetria... OMIM:615273
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Failure to thrive, Generalized dystonia, Myoclonus, Cerebellar hypoplasia, Opisthoton... OMIM:618076
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Abnormality of visual evoked potentials OMIM:203700
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis ORPHA:85288
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, CNS demyelination OMIM:618328
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opis... OMIM:616271
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Tremor, Fasciculations OMIM:313200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Scoliosis, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Inability to w... ORPHA:404454
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Gait ataxia, Hoffmann sign, Bab... OMIM:601162
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome, Ataxia OMIM:141300
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ... OMIM:168600
Gaucher Disease, Type Iii
Decreased body weight, Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Myoclonus, Hypertonia OMIM:610992
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Small for gestational age, Cerebellar atrophy, Cerebral atrophy, Failure to thr... OMIM:618891
Marchiafava-Bignami Disease
Tetraparesis, Gait ataxia, Hemiparesis, Rigidity, Apraxia, Abnormal pyramidal sign, Gait disturba... ORPHA:221074
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculations, Degeneration o... OMIM:105400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Gait ataxia, Tremor, Abdominal obesity, Kyphosis OMIM:300354
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Bab... ORPHA:314404
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Optic atrophy, Failure to thrive, Myoclonus, Cerebellar hypoplasia,... OMIM:607196
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Limb myoclonus, Difficulty walking, Inability to walk, Dysmetria, Hemipares... ORPHA:139396
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, EEG with parietal epileptiform discharges, Continuous spike and waves ... OMIM:619428
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Facial palsy, Abnormality of visual evoked potentials ORPHA:258
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Frontotemporal cerebral atrophy, Fasciculations, Abnormality o... ORPHA:275864
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Morning myoclonic jerks OMIM:254770
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Undetectable visual evoked potentials, Babinski sign, Lethargy... OMIM:252010
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Cerebral atrophy, Myoclonus, Rigidity, Small for gestational age OMIM:619057
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapy... ORPHA:79279
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Lumbar hyperlor... ORPHA:522077
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Difficulty walking, Abnormality of peripheral nerve conduction,... ORPHA:90321
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, EEG with burst suppression, Rigidity, Babinski sign, Delayed CNS myelination, Clon... OMIM:614498
Leigh Syndrome
Optic atrophy, Spasticity, Involuntary movements, Cerebellar atrophy, Failure to thrive, Leukodys... ORPHA:506
Acute Disseminated Encephalomyelitis
Involuntary movements, Somatic sensory dysfunction, EEG with generalized slow activity, EEG with ... ORPHA:83597
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Inability ... OMIM:617802
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Leber Optic Atrophy
Optic atrophy, Postural tremor, Ataxia, Dystonia, Optic neuropathy OMIM:535000
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Right hemipl... OMIM:607426
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Cerebellar atrophy, Clumsiness, Ataxia, Optic disc pallor, Subcortical... ORPHA:309288
Oculopharyngodistal Myopathy 3
Tremor, Ataxia OMIM:619473
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials, Spastic diplegia OMIM:614225
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Spastic tetraparesis, Cerebellar atrophy OMIM:618506
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Loss of ambulation, Abnormal pyra... OMIM:608627
3-Methylglutaconic Aciduria Type 7
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor ... ORPHA:445038
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Cerebral atrophy, Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Optic atrophy, Hypoplasia of the pons, Myoclonus, Appendicular spastic... OMIM:617669
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Broad-based gait, CNS hypomyelination, Kyphosis, Failure to thrive in ... ORPHA:268261
Filippi Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Decreased body weight OMIM:272440
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Eyelid myoclonus, Delayed myelination OMIM:613839
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Obesity, Progressive spastic paraplegia ORPHA:521390
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis,... OMIM:616437
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Cystathioninuria
Tremor ORPHA:212
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Kyphoscoliosis, Loss of ambulatio... ORPHA:466722
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Dystonia, Cerebellar atrophy, Hypertonia OMIM:614654
Mevalonic Aciduria
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Failure to thrive in infancy, Kyphoscoli... OMIM:610377
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Limb hypertonia, Clonus, Hypertonia, Optic ... OMIM:259720
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram ORPHA:166035
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Clonus OMIM:620080
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Opisthotonus,... OMIM:619272
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Cerebral hypomyelination, Lower limb spasticity, Clonus, Hypsarrhythmia, Myoclonic spasms, Hypert... ORPHA:447997
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Cerebellar atrophy, Kyphosis, Cerebral atrophy OMIM:619797
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, EEG with focal spike waves, EEG ... ORPHA:1942
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, L... ORPHA:447753
Hereditary Hyperekplexia
Spasticity, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia ORPHA:3197
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cerebellar vermis atrophy, Limb ataxia, Anterior concavity of thoracic vertebra... OMIM:617101
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Obesity, Cerebellar atrophy, Hyperlordosis ORPHA:3085
Alzheimer Disease 3
Cerebral cortical atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Bab... OMIM:607822
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Optic atrophy, Spasticity, Platyspondyly, Kyphosis, Difficulty walking,... OMIM:618476
Canavan Disease
Optic atrophy, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, CNS demyelination, Multifoc... OMIM:271900
Spastic Paraplegia 51, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk,... OMIM:613744
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati... OMIM:620327
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Cerebellar atrophy, Facial palsy, Kyphosis, Neuropathic spinal arthropathy OMIM:615084
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia OMIM:616640
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Lethargy, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Short neck, Delaye... OMIM:608776
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Short neck, Atrophy/Degeneration affecting the brai... ORPHA:263487
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Corpus callosum atrop... OMIM:261515
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Slurred speech ORPHA:3327
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Acute Transverse Myelitis
Spasticity, Muscle flaccidity, Autonomic bladder dysfunction, Paraplegia, Paraparesis, CNS demyel... ORPHA:139417
Pyridoxal Phosphate-Responsive Seizures
Global brain atrophy, Failure to thrive, EEG with burst suppression, Myoclonus, Hypertonia, Unste... ORPHA:79096
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Neuronal loss in... OMIM:600795
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, EEG abnormality, Po... ORPHA:35708
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Ataxia ORPHA:324290
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Failure to thrive, Abnormality of extrapyramidal motor function, Rigidity, Progres... ORPHA:521426
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Optic atrophy, Hypoplasia of the pons, Cer... OMIM:614969
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Primary amenorrhea, Parkinsonism, Parkinsonis... OMIM:157640
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Intent... OMIM:254900
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
EEG abnormality, CNS hypomyelination, Small for gestational age OMIM:614501
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tremor, Hemiparesis, Hypertonia, Primary amenorrhea, Hypoesthesia, ... OMIM:619737
Glycine Encephalopathy 1
Lethargy, Myoclonus OMIM:605899
Sialidosis Type 2
Kyphosis, Tremor, Ataxia ORPHA:87876
Adrenoleukodystrophy
Spastic paraplegia, Lower limb muscle weakness, Incoordination, Limb ataxia, Bulbar palsy, Parapa... OMIM:300100
Developmental And Epileptic Encephalopathy 89
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, EEG with burst suppression, Hyper... OMIM:619124
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Slender build,... ORPHA:3455
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Failure to thrive, Gait ataxia, Decreased body weight, Ataxia OMIM:617164
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Myoclonus, Brain atrophy, Hypertonia OMIM:617290
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atro... OMIM:614946
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Difficulty walking, Hyperlordosis, Vertebral fusion, Scoliosis, Frequent falls, Kyp... OMIM:607155
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Small for gestational age OMIM:618302
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Failure to thrive, Cerebellar hypoplasia, Partial absence of cerebellar vermi... ORPHA:329224
Niemann-Pick Disease Type C
Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal... ORPHA:646
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, EEG abnormality, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Typhoid
Lethargy, Tremor, Hypertonia, Ataxia ORPHA:99745
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Gait imbalance, Tremor, Prominent p... OMIM:300966
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168605
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Lethargy, Tremor, Generalized muscle weakness ORPHA:276608
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Oculomotor nerve palsy, Paresthesia, Gait ataxia, Limb muscle weakne... ORPHA:217260
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Fasciculations, Impaired vibration sensation in the lower limbs, Facial diplegia, Clumsiness, Ste... ORPHA:521411
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Oromotor apraxia, Hemiparesis ORPHA:300573
Ataxia-Telangiectasia
Spasticity, Gait disturbance, Tremor, Ataxia ORPHA:100
Pyruvate Carboxylase Deficiency
Athetosis, Clonus, Leukodystrophy OMIM:266150
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Choreoacanthocytosis
Resting tremor, Limb dystonia, Loss of ambulation, Parkinsonism, Frontal cortical atrophy, Weight... ORPHA:2388
Rett Syndrome, Congenital Variant
Spasticity, Scoliosis, Chorea, Apraxia, EEG abnormality, Dystonia, Athetosis, Delayed myelination... OMIM:613454
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Spasticity, Cerebellar atrophy, Cataplexy, Ataxia OMIM:604121
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Optic atrophy, Hypoplasia of the pons, Myoclonus, Hypsarrh... ORPHA:500144
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Spastic paraparesis, Cerebral ... ORPHA:93473
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Small for gestational age, Cerebral palsy, Hypertonia, Scoliosis, Kyphosis ORPHA:352490
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Myoclonus, Failure to thrive, Rigidity OMIM:300673
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Kyphosis, Inability to walk, Short neck, Oculomotor apraxia, Delayed CNS myelination,... OMIM:301041
Shukla-Vernon Syndrome
Broad-based gait, Cerebellar atrophy OMIM:301029
Alg1-Cdg
Scoliosis, Cerebellar atrophy, Kyphosis, Cerebral atrophy ORPHA:79327
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Incoordination, Abnormality ... OMIM:601992
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Cerebral palsy, Hypertonia, Scoliosis, Kyphosis OMIM:615834
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Leukodystrophy, Cerebral atrophy, Olivopontocere... OMIM:278800
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Scoliosis, Brain atrophy OMIM:278760
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Cerebral atrophy, Failure to thrive, Dysmetria, ... ORPHA:94147
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Juvenile Absence Epilepsy
Myoclonus, EEG with polyspike wave complexes ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy, Scoliosis OMIM:618793
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Optic ... ORPHA:502423
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct... OMIM:604218
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski s... OMIM:301072
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Failure to thrive, Kyphosis, Olivopontocerebell... OMIM:212065
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Failure to thrive, EE... OMIM:615574
Wieacker-Wolff Syndrome
Spasticity, Scoliosis, Cerebral atrophy, Apraxia, Oculomotor apraxia, Short neck, Hyperlordosis, ... OMIM:314580
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, O... OMIM:146500
Developmental And Epileptic Encephalopathy 84
Spasticity, EEG with burst suppression, Chorea, Opisthotonus, Babinski sign, Delayed CNS myelinat... OMIM:618792
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Ce... OMIM:618590
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Gait ataxia, Cogwheel rigidity, Tremor, Ri... ORPHA:254892
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis, CNS demyelination, Thoracic kyphosis OMIM:270200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
O'Donnell-Luria-Rodan Syndrome
Delayed myelination, Kyphosis OMIM:618512
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Cerebellar atrophy, Decreased body weight OMIM:618347
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Ataxia OMIM:274240
Angelman Syndrome
Cerebral cortical atrophy, Broad-based gait, Optic atrophy, Inability to walk, Obesity, Myoclonus... ORPHA:72
Cockayne Syndrome Type 2
Difficulty walking, Lower limb spasticity, Gait disturbance, Limb hypertonia, Ataxia, Scoliosis, ... ORPHA:90322
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Failure to thrive in infancy, Broad-based gait, Delayed CNS myelination OMIM:618805
D-Glyceric Aciduria
Cerebral cortical atrophy, Spasticity, Failure to thrive, Myoclonus, Appendicular spasticity, Opi... OMIM:220120
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, EEG with frontal focal spikes, Pseudo... ORPHA:98889
Immunodeficiency 114, Folate-Responsive
Delayed CNS myelination, Cerebellar atrophy, Cerebral atrophy OMIM:620603
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Scoliosis, Delayed CNS myelination, Cerebellar atrophy, Cerebral atrophy OMIM:618659
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Slender build, Myoclonus, Babinski ... ORPHA:364028
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Kyphosis, Difficulty walking, Brain atrophy, Abnormalit... ORPHA:90324
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Spasticity, Small for gestational age, Dilated fourth ventricle, Myoclonus, Cerebe... ORPHA:3078
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Global brain atrophy, Inability to walk, Obesity, Myoclonus, Tremor, Decreased body w... OMIM:619229
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
White-Sutton Syndrome
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Incoordinat... ORPHA:468678
Immunodeficiency 23
Somatic sensory dysfunction, Failure to thrive, Myoclonus, Ataxia, Abnormal CNS myelination, Cort... OMIM:615816
Myopathy, Centronuclear, 2
Hyperlordosis, Facial palsy, Scoliosis, Kyphosis, Waddling gait OMIM:255200
Alexander Disease
Spasticity, Failure to thrive, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonus, Tetra... ORPHA:58
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Joubert Syndrome
Cerebellar vermis hypoplasia, Abnormal form of the vertebral bodies, Tremor, Aganglionic megacolo... ORPHA:475
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss, Abnormal autonomic nervous system physiology, Neuronal loss in ce... OMIM:600072
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Lethar... OMIM:618321
Wilson Disease
Poor motor coordination, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Decreased ne... OMIM:277900
Stt3B-Cdg
Optic atrophy, Cerebellar atrophy, Failure to thrive ORPHA:370924
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Kyphosis, Tip-toe gait, Obesity, Short neck, Gait disturbance, Vocal cord paraly... ORPHA:98863
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Dysdiadochokinesis, Peripheral hypomyelination, Ataxia, Intention tremor OMIM:612780
Ullrich Congenital Muscular Dystrophy
Frequent falls, Short neck, Torticollis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Gm1 Gangliosidosis
Ataxia, Optic atrophy, Spasticity, Platyspondyly, Failure to thrive, Generalized dystonia, Abnorm... ORPHA:354
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cerebellar atrophy, Failure to thrive OMIM:615597
Lissencephaly 6 With Microcephaly
Spasticity, Limb hypertonia, Cerebellar atrophy OMIM:616212
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Gait ataxia, Cerebellar hypoplasia, Cerebral hypomyelination ORPHA:513456
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Distal sensory impairment, Hyperlordosis, Torticollis, Facial palsy, Scoliosis,... OMIM:181405
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Gait ataxia, Positi... ORPHA:70595
Bilateral Polymicrogyria
Cerebellar atrophy, Pseudobulbar paralysis, Spastic hemiparesis, Facial diplegia, Abnormal glosso... ORPHA:268940
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615919
Fliedner-Zweier Syndrome
Cerebellar atrophy, Obesity, Hypertonia, Scoliosis, Kyphosis OMIM:620511
Arachnoid Cyst
Chiari malformation, Sciatica, Tetraparesis, Inability to walk, Cranial nerve compression, Parest... ORPHA:2356
4Q21 Microdeletion Syndrome
Tremor, Cerebellar hypoplasia, Short neck, Scoliosis, Kyphosis ORPHA:238750
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Oculomotor apraxia, Gait disturbance... ORPHA:220497
Cimdag Syndrome
Cerebellar vermis hypoplasia, Spasticity, Cerebral atrophy, Chorea, Pontocerebellar atrophy, Cere... OMIM:619273
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Winchester Syndrome
Kyphosis OMIM:277950
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Galloway-Mowat Syndrome 9
Cerebral cortical atrophy, Cerebellar atrophy, Choreoathetosis OMIM:619603
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclo... OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord ... OMIM:617799
Alg8-Cdg
Cerebral cortical atrophy, Optic atrophy, Failure to thrive, Leukodystrophy, Ataxia, Small for ge... ORPHA:79325
Juvenile Sialidosis Type 2
Optic atrophy, Spasticity, Abnormal form of the vertebral bodies, Myoclonus, Dysmetria, Loss of a... ORPHA:93399
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response OMIM:618201
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Hyperlordosis, Waddling ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Hyperlordosis, Waddling ... ORPHA:98853
Chromosome 8Q21.11 Deletion Syndrome
Short neck, CNS hypomyelination OMIM:614230
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
EEG abnormality, Scoliosis, Kyphosis ORPHA:1858
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:536516
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination, Scoliosis OMIM:611555
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Lethargy, Neuronal loss in central nervous s... OMIM:604377
Young-Onset Parkinson Disease
Spasticity, Male sexual dysfunction, Female sexual dysfunction, Gait imbalance, Tremor, Rigidity,... ORPHA:2828
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Oculo... ORPHA:220493
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal mu... ORPHA:67036
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Failure to thrive, Kyphoscoliosis, Short... OMIM:193700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Kyphosis, Hypoplasia of the pons, Paroxysmal dystonia, Cerebellar h... OMIM:619909
Amish Nemaline Myopathy
Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Spastic tetraplegia, Leukodystrophy, Generalized muscle weakness OMIM:615330
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar hypoplasia, Cerebral cortical atrophy, Delayed CNS myelination, Cerebellar atrophy OMIM:617763
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Babinski sign, Fasciculations OMIM:619733
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Obesity, Tremor, Short neck, Cachexia, EEG abnormality, Scoliosis, Kyphosis ORPHA:85293
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia, Brai... OMIM:617186
Sneddon Syndrome
Hemiplegia, Impaired distal tactile sensation, Facial palsy, Tremor OMIM:182410
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Tremor, Ataxia ORPHA:79095
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Intention tremor, Ataxia OMIM:117300
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Postural tremor, Distal muscle weakness, Tremor OMIM:619790
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Axonal degeneration, Back... ORPHA:139399
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Myoclonus, Intention tremor OMIM:610539
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Involuntary movements, Failure to thrive, Myoclonus, Appendicular spasticity, Opis... OMIM:620352
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Gait disturbance OMIM:620469
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Lethargy, Limb hyperto... OMIM:608643
Unilateral Polymicrogyria
Involuntary movements, Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar pa... ORPHA:268943
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials, Tremor ORPHA:667
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials ORPHA:79430
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Lethargy, Tremor, Ataxia OMIM:201100
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... ORPHA:221091
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Failure to thrive, Dysmetria, Demyelinating peripheral neuropathy, Ataxia OMIM:616263
Isolated Complex I Deficiency
Failure to thrive, Leukodystrophy, Lethargy, Ataxia, Poor head control, Optic disc pallor, Optic ... ORPHA:2609
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Obesity, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Back ... ORPHA:98855
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Takenouchi-Kosaki Syndrome
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Cerebellar hypoplasia, Ataxia, Scol... OMIM:616737
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Cerebellar atrophy, Large for gestational age, Gait ataxia, Hyperlordo... OMIM:617011
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia ORPHA:683
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Cerebral palsy, Myoclonus, Limb dystonia, Opisthotonus, Ba... OMIM:619847
Biotinidase Deficiency
Diffuse cerebellar atrophy, Optic atrophy, Diffuse cerebral atrophy, Lethargy, Ataxia OMIM:253260
Leukodystrophy, Progressive, Early Childhood-Onset
Cerebral atrophy, Leukodystrophy, Appendicular spasticity, Optic disc pallor, Dystonia OMIM:617762
Craniosynostosis 6
Spina bifida occulta, Scoliosis, Cerebellar atrophy, Dandy-Walker malformation OMIM:616602
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Tetanus
Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic ner... ORPHA:3299
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Incoor... ORPHA:297
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Galloway-Mowat Syndrome 1
Optic atrophy, Spasticity, Small for gestational age, Cerebellar atrophy, Cerebral atrophy, Ataxi... OMIM:251300
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Fasciculations ORPHA:1143
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Failure to thrive in infancy,... OMIM:611209
Oculopharyngodistal Myopathy 1
External ophthalmoplegia, Ophthalmoparesis, Muscle weakness, Difficulty walking, Foot dorsiflexor... OMIM:164310
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Slender build, Chorea, Myoclonus, Scoliosis OMIM:617600
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Slc39A8-Cdg
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Failure to thrive in infancy, H... ORPHA:468699
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis ORPHA:25
Kallmann Syndrome
Paraplegia, Decreased fertility, Tremor, Primary amenorrhea, Hypogonadotropic hypogonadism, Gait ... ORPHA:478
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Cerebellar atrophy, Inability to walk, Delayed CNS myelination, Truncal ataxia OMIM:620066
Typical Nemaline Myopathy
Facial diplegia, Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Facial palsy, Scolio... ORPHA:171436
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Myoclonus, EEG abnormality, Dandy-Walker... OMIM:617281
Chromosome 18Q Deletion Syndrome
Optic atrophy, Broad-based gait, Failure to thrive in infancy, Chorea, Tremor, Cerebellar hypopla... OMIM:601808
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Atrophy/Degeneration involving the spinal cord, Positive Romberg sign, Gait ata... OMIM:607459
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Optic atrophy, Inability to walk, Obesity, EEG with focal e... OMIM:618493
Insulinoma
Paresthesia, Tremor, Generalized muscle weakness, Increased body weight, Lethargy, Abnormality of... ORPHA:97279
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Failure to thrive, Myoclonus, Abnormality of extrapyramidal motor function, Opi... OMIM:605711
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Small for gestational age, Failure to th... OMIM:620024
Schaaf-Yang Syndrome
Inability to walk, Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis OMIM:615547
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia ORPHA:1020
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Aicardi-Goutieres Syndrome 1
Spasticity, Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, CN... OMIM:225750
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Ataxia-Telangiectasia
Inability to walk, Myoclonus, Intention tremor, Tremor, Abnormal spermatogenesis, Ataxia, Female ... OMIM:208900
Developmental And Epileptic Encephalopathy 100
Thoracolumbar kyphosis, Cerebral atrophy, Chorea, Brain atrophy, Myoclonus, Gait ataxia, EEG with... OMIM:619777
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Leukodystrophy, Cerebellar cyst, EEG with focal spike waves, Abnorm... ORPHA:370997
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Ullrich Congenital Muscular Dystrophy 1A
Failure to thrive, Slender build, Torticollis, Facial palsy, Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Uruguay Faciocardiomusculoskeletal Syndrome
Difficulty walking, Kyphoscoliosis, Scoliosis, Kyphosis, Waddling gait OMIM:300280
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity, Scoliosis OMIM:300672
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Cerebellar vermis atrophy, Dysmetria, Apraxia, Gait disturbance, Truncal obesit... OMIM:616541
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormality of the vertebral column, Kyphoscoliosis ORPHA:53721
Stt3A-Cdg
Cerebellar atrophy, Failure to thrive ORPHA:370921
Mitochondrial Dna Depletion Syndrome 19
Multifocal epileptiform discharges, Spasticity, Myoclonus, Tetraparesis OMIM:618972
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Failure to thrive, Cerebellar hypoplasia, Lower limb spasticity, Gait disturbance,... ORPHA:261349
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Delayed CNS myelination, Cerebellar atrophy OMIM:618541
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Delayed CNS myelination, EEG... OMIM:124000
Schindler Disease, Type I
Optic atrophy, Spasticity, Myoclonus OMIM:609241
Peho Syndrome
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Hypsarrhythmia, EEG abnormality, At... ORPHA:2836
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Intellectual Developmental Disorder, Autosomal Dominant 42
Global brain atrophy, EEG with generalized epileptiform discharges, EEG with occipital slowing, C... OMIM:616973
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para... ORPHA:803
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Cerebral palsy, Generalized dystonia, Dystonia, Spastic ataxia, Paraparesis, S... OMIM:620358
Argininemia
Spastic paraparesis, Cerebellar atrophy, Progressive spastic quadriplegia, Spastic gait, Frequent... OMIM:207800
Wolfram Syndrome 1
Testicular atrophy, Tremor, Ataxia OMIM:222300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Spasticity, Cerebellar atrophy, Cerebral atrophy, Large for gestational age, Tremor, Choreoathetosis OMIM:614080
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Sacrococcygeal pilonida... ORPHA:468631
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H... ORPHA:682
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Short neck, Lumbar kyphosis, Hyperlordosis, An... OMIM:253000
D-Glyceric Aciduria
Chorea, Myoclonus, Brain atrophy, Spasticity ORPHA:941
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis ORPHA:2471
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cerebral cortical atrophy, Optic atrophy, Failure to thrive, Rigidity, Abnormality of extrapyrami... OMIM:617527
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Short neck, Scoliosis, Cerebellar atrophy, Cerebral atrophy OMIM:616266
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Failure to thrive, Ataxia OMIM:560000
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Optic disc coloboma, Tremor, Oculomotor apraxia, Gait disturbance, ... ORPHA:1454
Full Schwannomatosis
Hypoesthesia, Paresthesia, Scoliosis, Fasciculations ORPHA:93921
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal moto... OMIM:612199
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Failure to thrive, EEG with spike-wave complexes, Dysmetri... ORPHA:2203
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebellar hypoplasia OMIM:618329
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Myoclonus, Weight loss, Horner syndrome, Ataxia OMIM:256700
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:614576
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Cerebellar atrophy OMIM:619685
Aicardi-Goutieres Syndrome 5
Spasticity, Leukodystrophy OMIM:612952
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebellar vermis atrophy, Optic nerve dysp... OMIM:614866
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebellar hypoplasia, Spina bifida occu... OMIM:618291
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, CNS hypomyelination, Optic disc coloboma, Aplasia of the epiglottis... OMIM:615948
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy ORPHA:89844
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis, EEG abnormality, Ataxia ORPHA:2479
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Myoclonus OMIM:612899
Crisponi Syndrome
Scoliosis, Kyphosis, Hypertonia ORPHA:1545
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Myoclonus, Hypertonia OMIM:618240
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Myoclonus, EEG abnormality, Delayed myelination, Brain atrophy ORPHA:314655
3-Methylglutaconic Aciduria, Type Viia
Delayed CNS myelination, Cerebellar atrophy OMIM:619835
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Hypertonia OMIM:611584
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Lafora Disease
Spasticity, Giant somatosensory evoked potentials, Inability to walk, Myoclonus, Gait disturbance... ORPHA:501
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Triosephosphate Isomerase Deficiency
Spasticity, Failure to thrive, Tremor, Dystonia, Optic disc pallor, Unsteady gait, Kyphosis OMIM:615512
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Myoclonus, Intention tre... ORPHA:209905
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... ORPHA:2635
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormal form of the vertebral bodies, Gait disturbance... ORPHA:192
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Scoliosis, CNS demyelination ORPHA:494344
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis, Hypertonia OMIM:108145
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Spasticity, Gait ataxia, Paraplegia/parapa... ORPHA:33364
Neuraminidase Deficiency
Myoclonus, Dysmetria, Slurred speech OMIM:256550
Hypomelanosis Of Ito
Scoliosis, Kyphosis, Cerebral atrophy OMIM:300337
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Myoclonus, Spastic tetraplegia, Leukodystrophy OMIM:614462
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Melas
Cerebral cortical atrophy, Optic atrophy, Mixed demyelinating and axonal polyneuropathy, Failure ... ORPHA:550
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... OMIM:601104
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Decrea... OMIM:619475
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Spastic paraplegia, Cerebral cortical atrophy, Chiari malformation, Cerebellar atr... ORPHA:309282
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Speech ap... OMIM:617330
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cerebellar atrophy, Failure to thrive OMIM:301108
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins... ORPHA:306674
Pycnodysostosis
Spondylolysis, Chiari malformation, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunct... ORPHA:763
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Limb hypertonia, Cerebral atrophy, Cerebellar atrophy OMIM:620306
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Cervical subluxation, S... OMIM:253010
Desbuquois Dysplasia 1
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait OMIM:251450
Stiff-Person Syndrome
Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Fre... OMIM:184850
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Spasticity, Myoclonus, Oculomotor apraxia, Dandy-Walker malformatio... ORPHA:2752
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Short neck, Delayed myelination OMIM:608779
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Glycogen Storage Disease Ii
Difficulty walking, Limb muscle weakness, Diaphragmatic paralysis, Proximal muscle weakness, Resp... OMIM:232300
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... ORPHA:94068
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Rheumatic Fever
Chorea, Gait disturbance, Hemiballismus, Fasciculations ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Spasticity, Leukodystrophy OMIM:610678
Pediatric-Onset Graves Disease
Hyperkinetic movements, Failure to thrive, Tremor ORPHA:525731
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy OMIM:268020
Fucosidosis
Spasticity, Spastic tetraplegia, Failure to thrive, Abnormal pyramidal sign, Anterior beaking of ... ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Spasticity, Myoclonus, Enlarged flash visual evoked potentials, EEG abnormality, U... OMIM:253280
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Myoclonus, Spastic hemiparesis, Lethargy, Weight loss, Hypsarrhythmia, EEG abnormalit... ORPHA:20
Congenital Myopathy 22A, Classic
Frequent falls, Thoracic scoliosis, Waddling gait, Scoliosis, Kyphosis, Spinal rigidity OMIM:620351
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Cerebral atrophy, Myoclonus, Hyperkinetic movements, Dystonia, Hypertonia, Uns... ORPHA:17
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Dystonia, Lower limb spasticity, Limb hyperto... OMIM:615846
Emanuel Syndrome
Failure to thrive, Cerebral atrophy, Dandy-Walker malformation, Torticollis, Scoliosis, Kyphosis,... OMIM:609029
Sialuria
Hyperkinetic movements, Neuropathic spinal arthropathy ORPHA:3166
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Difficulty walking, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebra... OMIM:252940
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Inability to walk, Decreased body weight, Dystonia, Limb hypertonia, Corpus callosum ... OMIM:620371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Cerebellar atrophy, Failure to thrive OMIM:610131
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Dystonia, Myoclonus, Ataxia OMIM:619167
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Tremor, Scoliosis, Kyphosis ORPHA:476126
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Lower limb hypertonia OMIM:169400
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Scoliosis, Kyp... ORPHA:582
Hemophagocytic Lymphohistiocytosis, Familial, 2
Failure to thrive, Hemiplegia, CNS demyelination, Tetraplegia, Hypertonia, Ataxia OMIM:603553
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramida... ORPHA:2131
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
9Q33.3Q34.11 Microdeletion Syndrome
Inability to walk, Cerebellar vermis atrophy, Short neck, Delayed CNS myelination, Spastic tetrap... ORPHA:495818
Congenital Sialidosis Type 2
Optic atrophy, Spasticity, Myoclonus, Dysmetria, Ataxia ORPHA:93400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Tremor, Short neck, Partial absence of cerebellar vermis, Athetosis, Delayed ... ORPHA:280633
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Degeneration of the striatum, Leukodystrophy, Difficulty walking... ORPHA:51
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy OMIM:616430
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Kyphosis, Sacral dimple OMIM:618272
Clark-Baraitser syndrome
Obesity, Scoliosis, Kyphosis OMIM:300602
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Decreased body weight, Delayed CNS myelination, EEG abnormality, Scolios... OMIM:619005
Trisomy 13
Optic atrophy, Scoliosis, Chiari malformation, Kyphosis ORPHA:3378
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Incoordination, Vertebral segmentation defe... ORPHA:261318
Lathosterolosis
Chiari malformation, Failure to thrive, Abnormal thoracic spine morphology, Myoclonus, Cerebellar... ORPHA:46059
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebral cortical atrophy, Difficulty walking, Slender build, Large for gestational age, Lumbar h... ORPHA:457359
Cadds
Dystonia, Cerebellar atrophy ORPHA:369942
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Scoliosis, Kyphosis, Tremor OMIM:617061
Neuroblastoma
Myoclonus, Antalgic gait, Weight loss, Horner syndrome, Ataxia ORPHA:635
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis, Obesity ORPHA:3191
Weaver Syndrome
Spasticity, Cerebellar hypoplasia, Delayed CNS myelination, Hypertonia, Scoliosis, Kyphosis, Poor... OMIM:277590
Galloway-Mowat Syndrome 3
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:617729
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis OMIM:609128
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Global brain atrophy, Cerebellar atrophy, EEG with generalized sharp slow waves, Obesity, EEG wit... ORPHA:369837
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus, Abnormal autonomic nervous system physiology ORPHA:168593
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Obesity, Scoliosis, Small for gestational age ORPHA:94065
3C Syndrome
Optic atrophy, Short neck, Aplasia/Hypoplasia of the cerebellum, Hemivertebrae, Scoliosis, Kyphos... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 57
Dystonia, Myoclonus, Small for gestational age, Cerebral atrophy OMIM:620167
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Fountain Syndrome
Abnormal form of the vertebral bodies, EEG abnormality, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:3219
19P13.12 Microdeletion Syndrome
Aplasia/Hypoplasia of the cerebellar vermis, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:254346
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Failure to thrive, Tremor, Babinski sign, Delayed CNS myelination, Hypertonia, Muscle... OMIM:616539
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... ORPHA:642
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Inabi... ORPHA:508533
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy, Abnormal full-field electroretin... ORPHA:580
Cono-Spondylar Dysplasia
Failure to thrive, Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Distal sensory impairment OMIM:151800
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Myoclonus, Clonus, Scoliosis, Spastic tetraplegia OMIM:619055
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Short neck, Scoliosis, Kyphosis, Da... OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Slender build, Tremor, Kyphoscoliosis, Cerebellar hypoplasia, Ataxia, Scoliosis, ... OMIM:300967
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus OMIM:619814
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hypertonia, Cerebral degen... OMIM:230500
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Paraparesis, Sandwich appearance of vertebral bodies, Tetraparesis OMIM:602080
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Myoclonus, Ankle clonus, Lethargy, Hypsarrhythmia, Hypertonia, Exagge... OMIM:620423
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Knobloch Syndrome 1
Cerebellar atrophy, Cerebral atrophy, Peripapillary atrophy, Spina bifida occulta, Ataxia, Optic ... OMIM:267750
Van Esch-O'Driscoll Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Spina bifida o... OMIM:301030
Hurler Syndrome
Hypoplasia of the odontoid process, Neurodegeneration, Biconcave vertebral bodies, Short neck, C1... OMIM:607014
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Hyperekplexia 3
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Gait disturbance, Overweight, Scoliosis, Kyphosis ORPHA:500055
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Serotonin Syndrome
Abnormality of the autonomic nervous system, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia ORPHA:43116
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Chorea, Myoclonus, EEG with te... ORPHA:217253
Urban-Rogers-Meyer Syndrome
Short neck, Obesity, Kyphosis ORPHA:3409
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Failure to thrive, Abnormality of the vertebral col... ORPHA:280
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Biliary, Renal, Neurologic, And Skeletal Syndrome
Spasticity, Frontotemporal cerebral atrophy, CNS hypomyelination, Failure to thrive OMIM:619534
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can... ORPHA:15
Whipple Disease
Cachexia, Abnormal pyramidal sign, Myoclonus, Ataxia ORPHA:3452
Hyperekplexia 1
Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response OMIM:149400
Cowden Syndrome 1
Kyphosis, Scoliosis, Dysplastic gangliocytoma of the cerebellum, Intention tremor OMIM:158350
Camurati-Engelmann Disease
Optic atrophy, Abnormality of the vertebral column, Slender build, Optic nerve compression, Cache... ORPHA:1328
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Obesity, Kyphosis ORPHA:261222
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Inability to walk, Myoclonus, Kyphoscoliosis, EEG abnormality, Unsteady ga... ORPHA:3063
Lateral Meningocele Syndrome
Chiari malformation, Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis,... ORPHA:2789
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Thoracic kyphosis, Lumbar hyperlordosis, Short... OMIM:223800
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Limb hypertonia, Kyphosis OMIM:617190
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Leukodystrophy, Failure to thrive in infancy, Paraplegia, Hemiparesis, Paraparesis ORPHA:79124
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Peripheral demyelination, Tremor, Dy... OMIM:220111
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness OMIM:162210
Alg9-Cdg
Cerebellar atrophy, Cerebral atrophy, Short neck, Lower limb spasticity, Torticollis, Delayed mye... ORPHA:79328
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Periodic hypokalemic paresis, Lower limb muscle weakness, Obesity, Episodic fla... ORPHA:79102
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy OMIM:619103
Farber Disease
Spasticity, Failure to thrive, Myoclonus, Paraparesis, Brain atrophy ORPHA:333
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc... ORPHA:2311
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination, Cerebral atrophy, Decreased body weight OMIM:614886
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Failure to thrive, Cerebral atrophy... OMIM:602535
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Myoclonus, Brain atrophy ORPHA:251004
Intellectual Developmental Disorder, Autosomal Dominant 73
Cerebellar vermis hypoplasia, Spasticity, Tip-toe gait, Cerebellar vermis atrophy, Lumbar hyperlo... OMIM:620450
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal... ORPHA:449427
Harrod Syndrome
Kyphosis, Cerebral cortical atrophy, Scoliosis, Failure to thrive ORPHA:2115
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia, Scoliosis, Abnormal autonomic nervous system ph... ORPHA:285
Scorpion Envenomation
Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia ORPHA:466677
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
9P13 Microdeletion Syndrome
Scoliosis, Myoclonus, Hand tremor ORPHA:324313
Schwartz-Jampel Syndrome
Blepharospasm, Platyspondyly, Abnormally straight spine, Decreased body weight, Short neck, Gait ... ORPHA:800
Fabry Disease
Paresthesia, Abnormal autonomic nervous system physiology, Fasciculations OMIM:301500
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Cerebral atrophy, Difficulty walking, Inability to walk, Scoliosis, Kyphosis ORPHA:464738
Mend Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Limb hypertonia, Dandy-Walker malformatio... ORPHA:401973
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Leukodystrophy ORPHA:444013
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis, Cerebral atrophy OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebellar cyst, Leukodystrophy OMIM:616538
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Chiari type I malformation, Short neck, Vertebral fusion, Scoliosis, ... OMIM:130720
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Kinsship Syndrome
Failure to thrive, Sacral dimple, Myoclonus, Short neck, Spastic tetraparesis, Scoliosis, Brain a... OMIM:619297
Cowden Syndrome
Failure to thrive, Abnormal cerebellum morphology, Ataxia, Scoliosis, Kyphosis ORPHA:201
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Oculodentodigital Dysplasia
Spasticity, Tetraparesis, Paraparesis, Ataxia, Vertebral hyperostosis OMIM:164200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis, Tip-toe gait, Failure to thrive OMIM:618050
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Kyphosis, Cervical spinal canal stenosis, Speech apraxia, Slender build, Spondylol... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Kyphosis, Cervical spinal canal stenosis, Speech apraxia, Slender build, Spondylol... ORPHA:363958
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Kyphosis, Failure to thrive, Abnormality of the cervical spine, Gait d... ORPHA:464311
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Impaired temperature sensation, Increased body weight, Lethargy, Abdominal obe... ORPHA:398069
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Cerebellar atrophy, Cerebellar dysplasia, Scoliosis, Dandy-Walker malformation ORPHA:487796
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Combined Oxidative Phosphorylation Deficiency 59
CNS demyelination, Failure to thrive OMIM:620646
Mgat2-Cdg
Failure to thrive, Brain atrophy, Hypsarrhythmia, Scoliosis, Kyphosis ORPHA:79329
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Subcortical cerebral atrophy ORPHA:440713
Prader-Willi Syndrome
Impaired pain sensation, Class III obesity, Failure to thrive in infancy, Obesity, Abdominal obes... OMIM:176270
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Scoliosis, Kyphosis OMIM:617143
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Mucopolysaccharidosis Type 6
Short neck, Failure to thrive, Kyphosis, Ovoid vertebral bodies ORPHA:583
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Holoprosencephaly 14
Cerebellar atrophy, EEG abnormality, Dandy-Walker malformation, Partial absence of cerebellar vermis OMIM:619895
Pgm3-Cdg
Cortical myoclonus, Myoclonus, Failure to thrive, Ataxia ORPHA:443811
Spondyloenchondrodysplasia
Platyspondyly, Chorea, Kyphosis, Spasticity ORPHA:1855
African Trypanosomiasis
Involuntary movements, Somatic sensory dysfunction, Fasciculations, Difficulty walking, Abnormal ... ORPHA:3385
Distal Triplication 15Q
Large for gestational age, Scoliosis, Kyphosis, Dandy-Walker malformation ORPHA:314588
Dyrk1A-Related Intellectual Disability Syndrome
Cerebral cortical atrophy, Kyphosis, Failure to thrive, Abnormality of the cervical spine, Gait d... ORPHA:464306
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, EEG abnormality OMIM:246450
Microcephalic osteodysplastic primordial dwarfism, type III
Optic atrophy, Cerebellar atrophy, Kyphoscoliosis OMIM:210730
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Spondylolisthesis, Vertebral fusion, Scoliosis, Kyp... OMIM:610443
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Cerebral atrophy, Kyphoscoliosis, Hemivertebrae, Scoliosis, Kyphosis OMIM:301040
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Myoclonic Epilepsy Of Lafora 1
Apraxia, Gait disturbance, Myoclonus OMIM:254780
Atelis Syndrome 2
Sacral dimple, Kyphosis, Dysmetria OMIM:620185
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Short neck, Dandy-Walker malformation OMIM:156610
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Pituitary Adenoma 4, Acth-Secreting
Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compression fracture, Kyphosis OMIM:219090
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Overweight, Failure to thrive, Leukodystrophy OMIM:619575
Ethylene Glycol Poisoning
Myoclonus, Facial palsy, Slurred speech, Ataxia ORPHA:31826
Smith-Lemli-Opitz Syndrome
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Sacral dimple, Diffuse cerebral atro... OMIM:270400
Vici Syndrome
Abnormal posturing OMIM:242840
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Glucocorticoid Deficiency 2
Spastic tetraparesis, Myoclonus, Brain atrophy OMIM:607398
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Short neck, Papilledema, Kyphosis OMIM:309900
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Short neck, Gait disturbance, Thoracolumbar scoliosis, Sco... OMIM:265000
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Monosomy 9Q22.3
Chiari malformation, Abnormality of the vertebral column, Large for gestational age, Short neck, ... ORPHA:77301
Cohen Syndrome
Optic atrophy, Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis ORPHA:193
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Koolen-De Vries Syndrome
Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:96169
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Somatic sensory dysfunction, Abnormal form of the vertebral bodies, ... ORPHA:666
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Cerebral atrophy OMIM:619244
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Spasticity, Facial paralysis, Cerebellar atrophy, Tetraparesis, Hemiplegia, Limb dystonia, Peripa... OMIM:175780
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Kyphosis, Failure to thrive OMIM:617602
Zttk Syndrome
Optic atrophy, Spasticity, Failure to thrive, Cerebellar hypoplasia, Hemivertebrae, Scoliosis, Ky... OMIM:617140
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Listeriosis
Somatic sensory dysfunction, Myoclonus, Tremor, Hemiparesis, Ataxia, Back pain ORPHA:533
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis, Optic disc coloboma ORPHA:568
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Optic disc coloboma, Vertebral segmentation defect, Short neck, Scolio... ORPHA:251014
1P36 Deletion Syndrome
Cerebral cortical atrophy, Optic atrophy, Failure to thrive, Obesity, Hemiplegia/hemiparesis, Gai... ORPHA:1606
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis OMIM:619951
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Delayed CNS myelination, Hypertonia, Scoliosis, Kyphosis OMIM:619194
Mend Syndrome
Failure to thrive, Dandy-Walker malformation, Hypertonia, Kyphosis, Sacral dimple OMIM:300960
Marden-Walker Syndrome
Abnormal form of the vertebral bodies, Failure to thrive, Cerebellar hypoplasia, Abnormal cerebel... ORPHA:2461
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Kyphosis OMIM:619123
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis OMIM:616482
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Involuntary movements, Spasticity, Fasciculations, Myoclonus, Hypertonia, Olivopon... ORPHA:284339
Williams Syndrome
Cerebral cortical atrophy, Spasticity, Involuntary movements, Chiari malformation, Abnormal form ... ORPHA:904
Hajdu-Cheney Syndrome
Chiari malformation, Failure to thrive, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bod... ORPHA:955
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Scoliosis, Kyphosis OMIM:162300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis, Optic nerve hypoplasia ORPHA:261250
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Fasciculations OMIM:610717
Monosomy 22Q13.3
Cerebellar cortical atrophy, Obesity, Impaired pain sensation, Sacral dimple ORPHA:48652
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Classical-Like Ehlers-Danlos Syndrome Type 2
Impaired temperature sensation, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Sacral dimple ORPHA:536532
Smith-Lemli-Opitz Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Aganglionic megacolon, Short neck, Aplasia/... ORPHA:818
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K... OMIM:143095
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Involuntary movements, Inability to walk, Myoclonus, Exaggerated startle respon... ORPHA:438213
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Gait disturbance... ORPHA:3042
Mucolipidosis Iii Alpha/Beta
Kyphosis, Scoliosis, Spondylolisthesis OMIM:252600
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive OMIM:239000
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Mucolipidosis Type Ii
Inability to walk, Weight loss, Kyphosis ORPHA:576
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Noonan Syndrome 14
Short neck, Kyphosis OMIM:619745
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Scoliosis, Kyphosis, Hemiplegia/hemiparesis ORPHA:394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Coffin-Siris Syndrome 1
Gait ataxia, Delayed CNS myelination, Dandy-Walker malformation, Spina bifida occulta, Scoliosis,... OMIM:135900
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Leukodystrophy OMIM:601539
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Doors Syndrome
Optic atrophy, Myoclonus, Small cerebellar cortex, Lumbar scoliosis, EEG abnormality, Hemivertebr... ORPHA:79500
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Failure to thrive, Clonus, EEG abnormality, Scoliosis, Kyphosis ORPHA:534
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Myoclonus, Tetraplegia, Dystonia, Brain atrophy OMIM:618278
Heterotaxy, Visceral, 5, Autosomal
Cerebellar hypoplasia, Absence of the sacrum, Cerebellar atrophy, Cerebral atrophy OMIM:270100
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Cerebral cortical atrophy, Platyspondyly, Failure to thrive, Abnor... ORPHA:2273
Neutral Lipid Storage Myopathy
Difficulty walking, Fasciculations ORPHA:98908
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Kyphosis ORPHA:1969
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Scoliosis, Kyphosis OMIM:619482
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cerebellar cortical atrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity OMIM:619321
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Stickler Syndrome
Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Slender build, Spond... ORPHA:828
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Robinow Syndrome, Autosomal Dominant 3
Short neck, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Scoliosis, Kyphosis, Hemivertebrae OMIM:618223
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight OMIM:182210
Ramon Syndrome
Optic disc pallor, Scoliosis, Kyphosis, Decreased body weight OMIM:266270
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:1507
Frank-Ter Haar Syndrome
Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Neurofibromatosis Type 1
Paresthesia, Scoliosis, Kyphosis, Ataxia ORPHA:636
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Alstrom Syndrome
Obesity, Scoliosis, Kyphosis, Truncal obesity OMIM:203800
Wolf-Hirschhorn Syndrome
Small for gestational age, Abnormal form of the vertebral bodies, Failure to thrive, EEG abnormal... OMIM:194190
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Cerebral atrophy, Spondylolisthesis, Beaking of vertebr... OMIM:208400
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Cdags Syndrome
Kyphosis OMIM:603116
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Laryngeal dystonia, Abnormality of coordination, Myoclonus, Decreased body wei... OMIM:616462
Rabson-Mendenhall Syndrome
CNS demyelination ORPHA:769
Acromegaly
Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:963
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Somatomammotropinoma
Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:314769
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Optic disc pallor, Optic atrophy ORPHA:71505
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Sotos Syndrome
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Cerebral atrophy, Tremor, Aganglioni... ORPHA:821
Poland Syndrome
Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:2911
Marfan Syndrome
Slender build, Spondylolisthesis, Cachexia, Scoliosis, Kyphosis ORPHA:558
Primrose Syndrome
Neurodegeneration, Posterior scalloping of vertebral bodies, Truncal obesity, Ataxia, Kyphosis, I... OMIM:259050
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Occipital Horn Syndrome
Platyspondyly, Kyphosis, Orthostatic hypotension OMIM:304150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis ORPHA:2232
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Occipital Horn Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:198
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Kyphosis, Decreased body weight OMIM:303600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:99228
Monosomy X
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:881
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Scoliosis, Kyphosis, Failure to thrive OMIM:309000
Branchiooculofacial Syndrome
Short neck, Hyperlordosis, Agenesis of cerebellar vermis, Facial palsy, Kyphosis OMIM:113620
Crimean-Congo Hemorrhagic Fever
Fasciculations ORPHA:99827
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal central motor f... ORPHA:97685
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Wrinkly Skin Syndrome
Scoliosis, Kyphosis, Failure to thrive OMIM:278250
Proteus Syndrome
Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis ORPHA:744
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Kyphosis, Failure to thrive in infancy, Anterior concavity of thora... OMIM:216340
Viss Syndrome
Scoliosis, Butterfly vertebrae, Kyphosis, Failure to thrive OMIM:619472
Alström Syndrome
Somatic sensory dysfunction, Incoordination, Obesity, Thoracic scoliosis, Lumbar scoliosis, Trunc... ORPHA:64
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cntnap1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cntnap1.

No publications found that use IMPC mice or data for Cntnap1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cntnap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cntnap1tm98(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cntnap1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cntnap1tm98(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cntnap1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cntnap1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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