Gene Summary

Name:
zinc finger, FYVE domain containing 26
Synonyms:
9330197E15Rik,  LOC380767,  A630028O16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal motor learning Zfyve26em1(IMPC)J HOM Early adult 7.22×10-05
decreased circulating calcium level Zfyve26em1(IMPC)J HOM   Early adult 1.11×10-05
increased vertical activity Zfyve26em1(IMPC)J HOM Early adult 7.67×10-05
abnormal sleep behavior Zfyve26em1(IMPC)J HOM Early adult 8.56×10-05
decreased mean corpuscular hemoglobin Zfyve26em1(IMPC)J HOM Early adult 6.43×10-06
abnormal lens morphology Zfyve26em1(IMPC)J HOM Early adult 7.77×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Zfyve26 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 Zfyve26 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb... ORPHA:100996
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Urinary incontinence, Abnorm... OMIM:270700

The table below shows human diseases predicted to be associated to Zfyve26 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Episodic Ataxia, Type 1
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Hearing impairment, Gait ataxia ORPHA:217012
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ... ORPHA:225154
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Ataxia, Babinski sign, Functional abnormality of the bladder, Limb ataxia,... ORPHA:488594
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:302800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis OMIM:616155
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol... OMIM:214400
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Lacticaciduria, Falls, Tongue fasciculations, Scoliosis, Failure to ... OMIM:618811
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Urinary incontinence, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ... OMIM:205100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neurona... OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment OMIM:165300
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment OMIM:614369
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Babi... OMIM:602099
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Urinar... ORPHA:314603
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Urinary urgency, Spasticity, Urinary ... ORPHA:100985
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Cachexia, Hea... ORPHA:300605
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Spastic Paraplegia 83, Autosomal Recessive
Babinski sign, Unsteady gait, Spastic paraplegia, Gait ataxia, Urinary urgency, Paresthesia OMIM:619027
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... ORPHA:101110
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticosp... OMIM:603563
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... OMIM:607565
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Spastic Paraplegia 3, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Ba... OMIM:182600
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction OMIM:612577
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A... OMIM:617225
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Pontocerebellar Hypoplasia Type 1
Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of ante... ORPHA:2254
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity OMIM:617892
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Ataxia, Parkinsonism, Babinski sign, Cerebral ... OMIM:615911
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... OMIM:607596
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Dysdiadochokinesis, Impaired vibr... ORPHA:101007
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Babinski sig... OMIM:604168
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction, Limb ataxia, Gait ataxia ORPHA:284282
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... OMIM:600363
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Ur... OMIM:607259
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Camos Syndrome
Renal insufficiency, Ataxia, Optic atrophy, Spasticity, Nephrotic syndrome, Brain atrophy, Aplasi... ORPHA:83472
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoc... OMIM:159950
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Neurogenic ... ORPHA:276244
Spastic Paraplegia 27, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Impaired v... OMIM:609041
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... OMIM:253400
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Babinski sign, Impaired vibrat... OMIM:604187
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... ORPHA:100989
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Hearing i... ORPHA:401830
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Ky... OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration OMIM:618138
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... OMIM:612319
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Spastic Paraplegia 31, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Ankle clonus... OMIM:610250
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Urinary in... OMIM:604360
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic gait, Spastic... OMIM:609195
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor OMIM:253550
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Impaired vibra... ORPHA:99013
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... ORPHA:100994
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Facial palsy, Cryptorchidism, Degeneration of anterior horn cells, Tongue fasciculat... OMIM:301830
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticosp... OMIM:182601
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary u... OMIM:611390
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Autosomal Spastic Paraplegia Type 72
Postural tremor, Rigidity, Urinary bladder sphincter dysfunction, Spastic gait, Impaired vibratio... ORPHA:401849
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Axonal degenerat... OMIM:604320
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Pr... ORPHA:444099
Spastic Paraplegia 12, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604805
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Spastic Paraplegia 19, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:607152
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa... ORPHA:137898
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... OMIM:616795
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Spastic paraplegia, Spastic gait OMIM:613364
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc... ORPHA:363710
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Cognitive impairment ORPHA:172
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... OMIM:616291
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Diaminopentanuria
Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity OMIM:222350
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of the bladder, Spastic dysarthria, Ga... ORPHA:247604
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Spastic Paraplegia 37, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:611945
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610743
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Urinary inc... OMIM:607136
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Spastic Paraplegia 13, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:605280
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Urinary incontinence, Atrophy/Degeneration involving t... ORPHA:139399
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... OMIM:608703
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Inability to walk... OMIM:128100
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim... ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Myoclonus, U... ORPHA:306511
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Autoimmune Hypoparathyroidism
Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... OMIM:183090
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Tongue fasciculations, Waddling gait, Hand tremor OMIM:271150
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Nephrocalcinosis, Difficulty walking, Slender build OMIM:611087
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Gait ataxia... OMIM:213200
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Peripheral axonal neuropathy, Urinary incontinence, Spastic paraplegia, Dista... OMIM:263570
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Frequent falls, Axonal degeneration, Diaphragmatic paralysis OMIM:620011
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Chronic axonal neuropath... ORPHA:88644
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... OMIM:603516
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Hearing impairment, Limb dystonia OMIM:620270
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Delayed peripheral myelinatio... ORPHA:464282
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... OMIM:611890
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Urinary bladder sphinc... ORPHA:231445
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... ORPHA:100993
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Neuronal loss in ... ORPHA:71211
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... OMIM:606353
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturb... OMIM:221770
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 36, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:613096
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Reduction of oligodendroglia, Head titubation, Tremor, Inability to wal... OMIM:312080
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait ... OMIM:221820
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atro... OMIM:278800
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb... ORPHA:100996
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Distal sensory impairment, Gait disturbance, Brain atrophy, Scoliosis, Loss... OMIM:615284
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hepatomegaly, Failure to thrive, Ataxia, Aciduria, Paralysis, Cerebral cortic... OMIM:203700
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Urinary incontinence, Impaired distal vibrati... ORPHA:98768
Foix-Alajouanine Syndrome
Back pain, Low back pain, Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dys... ORPHA:79093
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Spastic Paraplegia 84, Autosomal Recessive
Impaired vibratory sensation, Babinski sign, Hoffmann sign, Spastic paraplegia, Ankle clonus, Uri... OMIM:619621
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Tetraplegia ORPHA:100997
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... ORPHA:458803
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Hearing impairment ORPHA:101075
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins... OMIM:275900
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Urinary urge... OMIM:618418
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Urinary incontinence, Babinski sign, Spastic paraplegia, ... OMIM:607225
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Baralle-Macken Syndrome
Urinary incontinence, Inability to walk, Kyphosis, Obesity, Spasticity, Global brain atrophy OMIM:619255
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis OMIM:611067
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, ... OMIM:618124
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Sp... ORPHA:363722
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spinocerebellar Ataxia 1
Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, Spinocerebellar atrophy, ... OMIM:164400
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Optic atrophy, Dysmetria, Gait... ORPHA:95
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Urinary incontinence, Impaired temperature sensation, Impaired distal prop... ORPHA:320365
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... ORPHA:48431
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol... OMIM:615157
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Difficulty walking, Voca... ORPHA:600
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior be... OMIM:230650
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Hearing impairment ORPHA:101078
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:85317
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Corpus... OMIM:601162
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Urin... ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 10
Lower limb spasticity, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparetic gait, Impa... ORPHA:100991
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal cerebellar ped... ORPHA:909
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Cryptorchidism, Degeneration of anterior ... ORPHA:1145
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... ORPHA:98761
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Urinary incontinence, Corpus ... ORPHA:447753
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Urinary incontinence, Chorea, Babinski sign, Gait ataxia, Titubatio... ORPHA:225147
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Dysmetria, Enuresis nocturna, Oculomotor apraxia, Cerebellar atrophy, Spast... ORPHA:171629
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gait d... ORPHA:216866
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ... ORPHA:99014
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,... OMIM:606070
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Urinary incontinence, Abnorm... OMIM:270700
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babin... OMIM:616586
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... ORPHA:98772
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Global brai... OMIM:616811
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Abnorma... ORPHA:702
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... OMIM:617404
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Spinal cana... ORPHA:1320
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... ORPHA:206583
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, Paraplegia, Sh... OMIM:303350
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign, Spastic gait, Tetraplegi... ORPHA:447760
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... ORPHA:319199
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Peripheral axonal neurop... ORPHA:90324
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Incoordination, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Hemi... OMIM:601338
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... OMIM:615290
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Vertigo, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Cerebral atrophy, Titubation OMIM:619405
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Gait at... ORPHA:98771
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hypertonia, Spasticity, Hearing impairment OMIM:609260
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Superficial Siderosis
Back pain, Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyrami... ORPHA:247245
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Failure to thrive OMIM:618237
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Ane Syndrome
Motor neuron atrophy, Kyphoscoliosis ORPHA:157954
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Ataxia, Functional abnormality of the bladder OMIM:620379
Adamantinoma
Hypercalcemia ORPHA:55881
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance, Myoclonu... OMIM:168601
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Ataxia, Urinary incontinence, Rigidity, Babinski sign, Abnormal pyramidal sign, Ga... OMIM:600142
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Adrenoleukodystrophy
Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxi... OMIM:300100
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
X-Linked Agammaglobulinemia
Anemia, Conjunctivitis, Hypocalcemia, Neutropenia, Thrombocytopenia ORPHA:47
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Spastic Paraplegia 16, X-Linked
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Tetraplegia, Urin... OMIM:300266
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Failure to... OMIM:248800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Rigidity, Splenomegaly, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor... ORPHA:309854
Cystathioninuria
Tremor, External ear malformation ORPHA:212
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Cerebral atrophy, Methylmalonic aciduria, Abnormal posturing, Failure to thrive, ... OMIM:614857
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Left ventricular hypertrophy, Optic... ORPHA:228346
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was... ORPHA:199343
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Inappropriate laughter, Difficulty walking, Cognitive impairment, Mental deterioration, H... OMIM:618476
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis, Hearing impairment ORPHA:391417