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 mean corpuscular hemoglobin Zfyve26em1(IMPC)J HOM Early adult 6.43×10-06
decreased circulating calcium level Zfyve26em1(IMPC)J HOM   Early adult 1.13×10-05
abnormal lens morphology Zfyve26em1(IMPC)J HOM Early adult 2.91×10-05
abnormal sleep behavior Zfyve26em1(IMPC)J HOM Early adult 8.03×10-05
increased vertical activity Zfyve26em1(IMPC)J HOM Early adult 7.20×10-05

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 Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

14 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
Hand tremor, Functional abnormality of the bladder, Impaired vibratory sensation, Upper limb spas... ORPHA:100996
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, Abnormal cerebellum morphology, ... OMIM:270700

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
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 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
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
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Slurred speech, Babinski sign, Episodic ataxia, Vertigo, Tremor OMIM:160120
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Hyperlysinemia, Type I
Cognitive impairment, Hyperlysinemia, Hyperactivity, Anemia, Ectopia lentis OMIM:238700
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor 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
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Hand tremor OMIM:300905
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Hearing impairment, Tremor ORPHA:217012
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Choreoathetosis, Basal ganglia gliosis, Astro... ORPHA:225154
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Steppage gait, Distal sensory impairment, Scoliosis, Gait disturbance OMIM:616155
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Steppage gait, Axonal degene... OMIM:614436
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 25
Spastic dysarthria, Impaired distal tactile sensation, Impaired pain sensation, Decreased number ... ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Lower limb spasticity, Ataxia, Gait ataxia, Scoliosis, Lim... ORPHA:488594
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Frequent falls, Ha... OMIM:302800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Neuronal loss in central nervous system, Rigidity, Cerebral cortical atrophy, Gait ... OMIM:600795
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Prog... ORPHA:2589
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Fasciculations, Hypoplasia of the pons, Degeneratio... OMIM:607596
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Apraxia, Spas... OMIM:615157
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Atrophy of the spinal cor... OMIM:602433
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Axonal degeneration, Failure to thrive, Tongue fasciculations, Clonus, Scoliosis,... OMIM:618811
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Fasciculations, Amyotrophic lateral sclerosis, Gait dist... OMIM:608030
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Spinocerebellar Ataxia 25
Cerebellar atrophy, Abolished vibration sense, Impaired pain sensation, Ataxia, Decreased number ... OMIM:608703
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Choreoathetosis, Decreased number of large pe... OMIM:208920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Extrapyramidal dyskinesia... OMIM:105550
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic tetraparesis, Spastic gait, Abnormal lower motor neuron morphology, Upper limb spasticity... OMIM:205100
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Hearing impairment, Tremor OMIM:165300
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Hearing impairment OMIM:220300
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Apraxia, Senile plaques, Temp... ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Cerebral cortical atrophy, Babinski sign, Amyotrophic lateral sclerosis OMIM:615911
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Spastic dysarthria, Cerebellar hypoplasia, Gait ataxia, Progressive cerebellar ataxia,... ORPHA:314603
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Spastic gait, Dysmetria, Spastic paraplegia, Ataxia, Lower limb spasticity, U... OMIM:610357
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Peripheral axonal neuropathy, Distal sensory impairment, Optic disc pallor, Scoliosis, ... OMIM:617087
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Urinary urgency, Urinary bladder sphincter dysfunction, Spasticity... ORPHA:100985
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Difficulty walking, Brain atrophy ORPHA:363432
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Impaired proprioception, Abnormal sensory nerve conduction velocity, Impaired vibration... ORPHA:88628
Juvenile Amyotrophic Lateral Sclerosis
Parkinsonism, Opisthotonus, Spastic diplegia, Inability to walk, Lower limb spasticity, Ataxia, H... ORPHA:300605
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Amyloidosis of peripheral nerves, Abnormal pyramidal sign, V... ORPHA:282166
Spastic Paraplegia 83, Autosomal Recessive
Spastic paraplegia, Unsteady gait, Gait ataxia, Urinary urgency, Paresthesia, Babinski sign OMIM:619027
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Fasciculations, Spasticity, Babi... OMIM:602099
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Spastic Paraplegia 10, Autosomal Dominant
Spastic gait, Parkinsonism, Spastic paraplegia, Ataxia, Lower limb spasticity, Impaired vibration... OMIM:604187
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, Impaired vib... OMIM:607565
Spastic Paraplegia 3, Autosomal Dominant
Spastic gait, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Lower limb spa... OMIM:182600
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Spastic Paraplegia 8, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation in the lowe... OMIM:603563
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Sensory axonal neuropathy, Fasciculations, Hyperlordosis, Up... ORPHA:52430
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Spasticity, Amyot... OMIM:614373
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Scoliosis, Tongue fasciculat... OMIM:159950
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Babinski sign, Sp... ORPHA:101007
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Resting tremor, Impaired vibratory sen... OMIM:617225
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Axonal degeneration, ... OMIM:604168
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Camos Syndrome
Nephrotic syndrome, Optic atrophy, Ataxia, Progressive extrapyramidal movement disorder, Spastici... ORPHA:83472
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia, Urinary bladder sphincter dysfunction ORPHA:284282
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... ORPHA:157941
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation in the lowe... OMIM:600363
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormal lower motor neuron morphology, Imp... ORPHA:95434
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Scoli... OMIM:610743
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Gait ataxia, Urinary urgency, Scoliosis, Spasticity, Cerebral cort... OMIM:611390
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... ORPHA:3115
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Spastic gait, Urinary incontinence, Lower limb spasticity, Impair... ORPHA:100989
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 1
Fasciculations, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tr... OMIM:105400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spastic Paraplegia 27, Autosomal Recessive
Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation at ankles, Babinski sign,... OMIM:609041
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Back pain, Lumbar hyperlordosis, Gait disturbance, Facial palsy, Amyot... OMIM:167320
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Urinary urgency, Scoliosis, ... OMIM:607259
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis OMIM:612577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Tetraparesis, Abnormal lower motor neuron morphology, Fasciculations, Lower limb spasticity, Spas... OMIM:613954
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:444099
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Hypertrophic nerv... DECIPHER:29
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction, Spastic gait, Spastic paraplegia, Babinski sign OMIM:615625
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Cerebellar atrophy, Degeneration of the striatum, Abnormal lower motor n... ORPHA:276244
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... ORPHA:275864
Spastic Paraplegia 31, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Urinary urgency, Distal sensory impairme... OMIM:610250
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Hearing i... ORPHA:401830
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxi... ORPHA:1368
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Fasciculations, Amyotrophic lateral sclerosis, Cerebral c... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Fasciculations, Amyotrophic lateral sclerosis, Cerebral c... OMIM:616437
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Dysmetria, Cerebellar atrophy... OMIM:612319
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Frequent falls, Spastic paraplegia, Ataxia, Lower limb spasticity, Abnor... OMIM:609195
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells, Limb fasciculations OMIM:253400
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... OMIM:604320
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:171612
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Kyphosis, Upper limb spasticity, Head tremor,... OMIM:614409
Spastic Paraplegia 4, Autosomal Dominant
Spastic gait, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Lower limb spa... OMIM:182601
Autosomal Dominant Spastic Paraplegia Type 13
Abnormal pyramidal sign, Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibrat... ORPHA:100994
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Sensorineural hearing impairment, Tremor, Poor coordination, Spasticity, Clumsiness, B... OMIM:270500
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Degeneration of anterior horn cells, Scoliosis, Tongue fasciculations, Facial palsy, ... OMIM:301830
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis OMIM:619141
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253550
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Kyphosis, Obesity, Inability to walk, Ataxia, Lower limb spasticity, Lumbar hyp... OMIM:616756
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Lower limb spasticity, Imp... ORPHA:100999
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Dysmetria, Frequent falls, Spinocerebellar tract degeneration, Intention tremor, Spa... ORPHA:1175
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Obesity, Spastic paraplegia, Ataxia, Impaired vibration sensation in the lower limb... OMIM:604360
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Autosomal Spastic Paraplegia Type 72
Spastic gait, Urinary bladder sphincter dysfunction, Rigidity, Impaired vibration sensation at an... ORPHA:401849
Spastic Paraplegia 12, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation in the lowe... OMIM:604805
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment, Splenomegaly ORPHA:172
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Dysmetria, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... OMIM:270550
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Spastic gait, Spastic paraplegia OMIM:613364
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Paralysis, Cerebellar atrophy, Astrocytosis, 3-Methylglutaconic aciduria, Ataxia, Hepat... OMIM:203700
Spastic Paraplegia 19, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation in the lowe... OMIM:607152
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Cerebellar atrophy, Ataxia, Unsteady gait, Urinary urgency... OMIM:616795
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head trem... ORPHA:352641
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... OMIM:611225
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Amyotrophic lateral sclerosis OMIM:612069
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ... ORPHA:363710
Frontotemporal Dementia
Neuronal loss in central nervous system, Parkinsonism, Amyotrophic lateral sclerosis OMIM:600274
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis, Spastic dysarthria, Spasticity, Abno... ORPHA:247604
Diaminopentanuria
Cystinuria, Hyperlysinuria, Ataxia, Spasticity, Neurodegeneration OMIM:222350
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Spastic gait, Somatic sensory dysfunction, Cerebellar atrophy, Impaired ... ORPHA:99013
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Spastic Paraplegia 37, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:611945
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy of the spinal cord, Spastic gait, Urinary retention, Dors... ORPHA:139399
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Slowed slurred speech, Ataxia, Nephropathy, Astrocytosis OMIM:172500
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Spastic Paraplegia 13, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation in the lowe... OMIM:605280
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Frequent falls, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... ORPHA:100984
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Intention tremor, Apraxia, Urinary incontinence, Bra... OMIM:607136
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor ORPHA:210571
Spinocerebellar Ataxia 10
Incoordination, Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Urinary incontinence, Dec... OMIM:603516
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Abnormal sperm morphology, Upper l... ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Abnormality of the cervical spine, Lo... ORPHA:306511
Autosomal Dominant Spastic Paraplegia Type 12
Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Lower limb spasticity, Imp... ORPHA:100993
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Distal sensory impairment, Scoliosis, ... OMIM:615284
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Abnormal pyramidal sign, Decreased body weight, Parkinsonism, Cere... OMIM:617672
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Chronic axonal neuro... ORPHA:88644
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Hypertonia, Cerebellar atrophy, Caudate atrophy, Kypho... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Gliosis, Torticollis OMIM:618369
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Gait di... ORPHA:101075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Cerebral atrophy, Caudate atrophy, Peripheral demyelination, Apraxia, Spasticity, Ga... OMIM:221770
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Astrocytosis, Slender build, Inability to walk, Difficulty walking OMIM:611087
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Peripheral demyelination, Functional abnormality of the bladder, Par... ORPHA:71211
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Fasciculations, Postural tremor, Amyotrophic lateral scl... OMIM:608627
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spinocerebellar Ataxia 1
Olivopontocerebellar atrophy, Spinocerebellar atrophy, Progressive cerebellar ataxia, Abnormality... OMIM:164400
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Kyphosis, Delayed peripheral myelination, Obesi... ORPHA:464282
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Action tremor, Parkinsonism, Cerebellar atrophy, Inten... ORPHA:98762
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Distal sensory impairment, Axonal degeneration, Decreased number ... OMIM:608720
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Spastic paraplegia, Gait disturbance, Paresthesia, Distal sensory impairment, Perip... OMIM:263570
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Spasticity, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... ORPHA:275872
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Cerebellar vermis atrophy, Global bra... OMIM:312080
Spastic Paraplegia 36, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:613096
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Scoliosis, Gait d... ORPHA:101078
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Hearing impairment, Tremor OMIM:612438
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Spastic Paraplegia 84, Autosomal Recessive
Hypertonia, Frequent falls, Impaired vibratory sensation, Cervical spinal cord atrophy, Hoffmann ... OMIM:619621
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Short neck, Kyphosis, Inability to walk, Paucity of anterior horn motor neurons... OMIM:611890
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Autosomal Dominant Spastic Paraplegia Type 36
Progressive spastic paraplegia, Spastic gait, Impaired distal tactile sensation, Lower limb spast... ORPHA:320365
Foix-Alajouanine Syndrome
Frequent falls, Urinary retention, Somatic sensory dysfunction, Functional abnormality of the bla... ORPHA:79093
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Autosomal Recessive Spastic Paraplegia Type 15
Hand tremor, Functional abnormality of the bladder, Impaired vibratory sensation, Upper limb spas... ORPHA:100996
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Dystonia 31
Parkinsonism, Difficulty walking, Abnormal posturing OMIM:619565
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... OMIM:221820
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia
Microcytic anemia, Cognitive impairment, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglo... ORPHA:846
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Friedreich Ataxia
Sensory axonal neuropathy, Dysmetria, Impaired proprioception, Cervical spinal cord atrophy, Inte... ORPHA:95
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Urinary incontinence, Bradykinesia, Gait ataxia, Urinary urgency, Impaired di... ORPHA:98768
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Parkinsonism, Degeneration of anterior horn cells, Decreased nerve conduction veloci... OMIM:118301
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment... ORPHA:600
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Degeneration of the lateral ... ORPHA:320355
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Involuntar... ORPHA:391411
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
X-Linked Spastic Paraplegia Type 16
Tetraplegia, Functional abnormality of the bladder ORPHA:100997
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Hearing impairment, ... ORPHA:139485
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Spastic paraplegia, Lower limb spasticity, Urinary urgency, Babinski sign, Gait dis... OMIM:618418
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... ORPHA:48431
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Spinocerebellar tract degeneration, Impaired vibratory sensatio... OMIM:109150
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Kyphosis, Cerebellar hypoplasia, Obesity, Inability to walk, Ataxia, Unsteady g... OMIM:618443
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:36913
Baralle-Macken Syndrome
Kyphosis, Global brain atrophy, Inability to walk, Obesity, Spasticity, Urinary incontinence OMIM:619255
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Cerebra... OMIM:606353
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Hyperlordosis, Scoliosis, Waddling gait, Difficulty walking OMIM:611067
Cerebrotendinous Xanthomatosis
Global brain atrophy, Gliosis, Paraparesis, Abnormal cerebellar peduncle morphology, Abnormality ... ORPHA:909
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Scoli... ORPHA:99014
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Autosomal Dominant Spastic Paraplegia Type 10
Parkinsonism, Spastic paraparetic gait, Upper limb spasticity, Lower limb spasticity, Paresthesia... ORPHA:100991
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Gait ataxia, ... OMIM:117360
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Distal sensory impai... OMIM:606070
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis, Gait disturbance ORPHA:85317
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Tremor, Impaired vibration sensation i... ORPHA:447753
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Ataxia, Unsteady gait, Increas... ORPHA:79263
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Sandhoff Disease
Kyphosis, Splenomegaly, Hepatomegaly, Ataxia, Failure to thrive ORPHA:796
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Spastic paraplegia, Ankle clonus, Cerebellar atrophy, Dysmetria, Frequent f... ORPHA:171629
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Spinocerebellar Ataxia Type 10
Kinetic tremor, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, Unsteady ... ORPHA:98761
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Kyphosis, Choreoathetosis, Inability to walk, Gait ataxia, Failure... OMIM:617988
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Olivopontocerebellar atrophy, Ataxia, Ax... OMIM:278800
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Axonal degeneration, Poor coordination,... ORPHA:478029
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Impaired vibratory sensation, Spinocerebellar tract degen... OMIM:183090
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Cerebral atrophy, Kyphosis OMIM:618453
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Resting tremor, Titubation, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progress... ORPHA:225147
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Waddling gait, Small for gestational age, Kyphosis OMIM:618392
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Tongue fasciculations, Degeneration of an... ORPHA:1145
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor ORPHA:79234
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Abnormal pyramidal sign, Dysmetria, Frequent falls, Cerebellar atrophy, Titubat... ORPHA:397946
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Urinary incontinence, Ataxia, Poor coordination, Cogwheel rigidity, Limb atax... ORPHA:98772
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Kyphosis, Ataxia, Unsteady gait, Scoliosis OMIM:300861
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, Abnormal cerebellum morphology, ... OMIM:270700
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Inability to walk, Tip-toe gait, Optic disc pallor, Spasticity, Gai... ORPHA:216866
Glut1 Deficiency Syndrome 2
Ataxia, Dystonia, Choreoathetosis, Tremor OMIM:612126
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:94089
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Dementia, Memory impairment, Narcolepsy OMIM:604121
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Urinary retention, Kyphoscoliosis, Tetraplegia, Spasticity, Corpus callosum atrophy... ORPHA:447760
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Sensorineural hearing impairment, Gait ataxia,... ORPHA:504476
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Global brain atrophy, Optic neuropathy, Axonal degeneration, Spasticity, Opti... OMIM:616811
Pelizaeus-Merzbacher Disease
Kyphosis, Choreoathetosis, Failure to thrive in infancy, Ataxia, Scoliosis, Spasticity, Abnormali... ORPHA:702
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Cockayne Syndrome Type 3
Unilateral renal agenesis, Hydroureter, Urinary retention, Kyphosis, Intention tremor, Astrocytos... ORPHA:90324
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Adult Polyglucosan Body Disease
Abnormal pyramidal sign, Ataxia, Gait disturbance, Urinary bladder sphincter dysfunction, Distal ... ORPHA:206583
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Masa Syndrome
Kyphosis, Shuffling gait, Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Paraplegia, H... OMIM:303350
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, A... OMIM:215470
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea OMIM:606438
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Scol... ORPHA:2590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Dysmetria, Bradykinesia, Ataxia, Gait ataxia, Urinary urgency, Peripheral axonal ... OMIM:601338
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Low-set ears, Tremor OMIM:618951
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Idiopathic Camptocormia
Cerebral atrophy, Abnormal pons morphology, Parkinsonism, Syringomyelia, Spinal canal stenosis, A... ORPHA:1320
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Urinary urgency, Recurrent urinary tract infections, C... ORPHA:99027
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Abnormal pyramidal sign, Kyphosis, Impaired pain sensation, Inability to walk, ... ORPHA:500180
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesia, Scoliosis, Hemiparesis, Difficulty wal... ORPHA:306669
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Ataxia, Abnormal cerebellum morphology, Spasticity, Cerebral corti... OMIM:607694
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Oculocerebrodental Syndrome
Hypocalcemia, Developmental cataract, Hypercalcemia ORPHA:557003
Adamantinoma
Hypercalcemia ORPHA:55881
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic paraplegia, Scoliosis, Tetra... OMIM:607225
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Superficial Siderosis
Atrophy of the spinal cord, Functional abnormality of the bladder, Cerebellar atrophy, Dysmetria,... ORPHA:247245
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, To... ORPHA:71517
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Mental deterioration, Ataxia OMIM:618476
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Frequent falls, Kyphosis, Cerebellar cyst, Hyperlordosis, Scoliosis, Vertebra... OMIM:606612
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Ataxia, Scoliosis, Brain atrophy, Tremor OMIM:278760
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Cerebellar a... ORPHA:98759
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Hearing impairment, Head tremor, Fasciculations, Ataxia... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Spastic Paraplegia 16, X-Linked
Shuffling gait, Spastic paraplegia, Lower limb spasticity, Urinary urgency, Urinary bladder sphin... OMIM:300266
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Kyphosis, Blepharospasm, Hyperlordosis, Scoliosis, Torticollis, Abnormal posturing, T... OMIM:128100
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Diffuse cerebral atroph... OMIM:230650
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Adrenoleukodystrophy
Incoordination, Urinary incontinence, Spastic paraplegia, Paraparesis, Truncal ataxia, Urinary bl... OMIM:300100
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis ORPHA:47
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Spasticity, Babinski sign, Hearing impairment, Hypertonia OMIM:609260
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Spinocerebellar Ataxia Type 18