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Gene: Pla2g6 MGI:1859152

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Gene Summary

Name:
phospholipase A2, group VI
Synonyms:
iPLA2,  iPLA2beta

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Pla2g6tm1a(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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DSS Histology

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Pla2g6tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 80 images

Pla2g6tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, HOM, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HOM, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, asymmetric snout, HOM, Male, WTSI
Pla2g6tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, asymmetric snout, HOM, Male, WTSI

View all 6 images

Pla2g6tm1a(EUCOMM)Wtsi
abnormal retinal blood vessel pattern, HOM, Female, WTSI

Human diseases caused by Pla2g6 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 Pla2g6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Lewy bodies, Spasticity, Dysdiadochokinesis, Babinski sign, Dysmetria, Cereb... OMIM:610217
Adult-Onset Dystonia-Parkinsonism
Spasticity, Frontotemporal cerebral atrophy, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism w... ORPHA:199351
Parkinson Disease 14, Autosomal Recessive
Global brain atrophy, Spasticity, Ankle clonus, Frontotemporal cerebral atrophy, Resting tremor, ... OMIM:612953
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Optic atrophy, Spastic tetraplegia, Ataxia, Neuronal loss in central ner... OMIM:256600
Infantile Neuroaxonal Dystrophy
Spasticity, Abnormality of peripheral nerve conduction, Abnormal pyramidal sign, Optic atrophy, P... ORPHA:35069

The table below shows human diseases predicted to be associated to Pla2g6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spinocerebellar Ataxia Type 4
Motor deterioration, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioceptio... ORPHA:98765
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Sensory axonal neuropathy, Shoulder girdle muscle atrophy, Steppage gait, Clus... ORPHA:98856
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Somatic sensory dysfunction, Upper limb amyotrophy, Quadriceps muscle atrophy, Distal lower limb ... ORPHA:482601
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Tip-toe gait, Peripheral axonal degeneration, Decreased moto... OMIM:614436
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Babinski sign, Abnormal lowe... OMIM:602433
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Rigidity, Gait disturbance, Symmetric lesions of the basal ganglia, Slurred s... OMIM:609161
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Cerebral atrophy, Bra... OMIM:600116
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Mildly reduced visual acuity, Visual impairment OMIM:164100
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Parkinsonism with ... OMIM:607060
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Failure to thrive in infancy, Impaired vibration sensation at ankles, Abnormality of... ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Miyoshi Myopathy
Tibialis muscle weakness, Tip-toe gait, Distal lower limb amyotrophy, Calf muscle hypertrophy, Tr... ORPHA:45448
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Perip... OMIM:302800
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Waisman Syndrome
Lewy bodies, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable ... OMIM:311510
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Thin corpus callosum, Apraxia, Gait disturbance, Babin... OMIM:300423
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Subcortical cerebral atrophy, Shuffling gait, Falls, Resting tremor, P... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Gait disturbance, Scoliosis, Steppage gait, Distal sensory impairment OMIM:616155
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Abnorma... OMIM:617225
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... ORPHA:95434
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Global brain atrophy, Somatic sensory dysfunction, Spasticity, Shuffling gai... OMIM:221820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Optic atrophy, Peripheral axonal neuropathy, Scoliosis, Difficulty walking, Optic disc ... OMIM:617087
Optic Atrophy 9
Reduced visual acuity, Red-green dyschromatopsia, Visual impairment, Paracentral scotoma OMIM:616289
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Gait disturbance, Peripheral axonal neuropathy, Foot dorsiflexor weakness, D... OMIM:616280
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Reduced visual acuity, Central scotoma OMIM:616152
Spastic Paraplegia Type 7
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Cerebral cortical a... ORPHA:99013
Cataract 7
Visual loss, Mildly reduced visual acuity OMIM:115660
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Peripheral axonal degeneration, Truncal... OMIM:208920
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Cere... ORPHA:101110
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:615268
Parkinson Disease, Late-Onset
Lewy bodies, Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Short stepped shuf... OMIM:168600
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Lewy bodies, Spasticity, Dysdiadochokinesis, Babinski sign, Dysmetria, Cereb... OMIM:610217
Spastic Paraplegia 38, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Thenar muscle weakness, Spastic gait, Lower limb... OMIM:612335
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Periph... OMIM:604168
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies, Resting tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:614251
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Parkinson Disease 21
Lewy bodies, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:616361
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Nyctalopia, Visual impairment OMIM:607476
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Tip-toe gait, Spastic gait, Rigidity, Gait disturbance, Babinski sign, Hyperesthesi... ORPHA:100984
Primary Progressive Freezing Gait
Lewy bodies, Cerebral cortical atrophy, Gait imbalance, Shuffling gait, Postural tremor, Rigidity... ORPHA:75567
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Hyperintensity of cerebral white matter on MRI, Parkinsonism, Babinski ... ORPHA:521406
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... ORPHA:88628
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Type I
Chronic axonal neuropathy, Impaired vibration sensation at ankles, Babinski sign, Hypertonia, Dis... OMIM:182960
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number, Bab... OMIM:619063
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Weight loss, Parkinsonism, Caudate atrophy, Involuntary moveme... ORPHA:98934
Caribbean Parkinsonism
Lewy bodies, Midline brain calcifications, Cerebral cortical atrophy, Parkinsonism, Progressive g... ORPHA:97355
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Sl... OMIM:618317
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Neurodegeneration With Brain Iron Accumulation 4
Lewy bodies, Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal mot... OMIM:614298
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Spasticity, Motor axonal neuropathy, Inability to walk, Tongue fasciculatio... OMIM:618276
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal amyotrophy,... OMIM:617018
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Parkinson Disease 23, Autosomal Recessive Early-Onset
Lewy bodies, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Akinesia, Parkinsoni... OMIM:616840
Spastic Paraplegia 43, Autosomal Recessive
Knee flexion contracture, Spasticity, Optic atrophy, Gait disturbance, Babinski sign, Spastic par... OMIM:615043
Mitochondrial Dna Depletion Syndrome 18
Falls, Failure to thrive, Scoliosis, Clonus, Tongue fasciculations, Axonal degeneration OMIM:618811
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Mental deterioration, Cerebellar atrophy, Neurodegeneration OMIM:610951
Parkinsonian-Pyramidal Syndrome
Lewy bodies, Spasticity, Abnormal pyramidal sign, Shuffling gait, Parkinsonism, Rigidity, Substan... ORPHA:171695
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Flexion contracture, Ataxia, Babinski sign, Tremor, Peripheral axonal neuropathy, Ske... OMIM:611105
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Spinocerebellar Ataxia Type 43
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Unsteady gait, Peripheral axonal neuropathy,... ORPHA:497764
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Abnormal peripheral nervous system morphology, Distal amyotrophy, Unstea... OMIM:300489
Dystonia, Dopa-Responsive
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... OMIM:128230
Parkinson Disease 1, Autosomal Dominant
Global brain atrophy, Lewy bodies, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclo... OMIM:168601
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... OMIM:619862
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Resting tremor, Apraxia... OMIM:615157
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment OMIM:610189
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Neuronal loss in basal ganglia, Rigidity, Myoclon... ORPHA:248111
Retinitis Pigmentosa 78
Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia OMIM:617433
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Somatic sensory dysfunction, Impaired distal vibration sensation, Skeletal muscle atrophy, Diffic... OMIM:615025
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spastic Paraplegia 73, Autosomal Dominant
Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Skeletal muscle atrophy, ... OMIM:616282
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Amyotrophic Lateral Sclerosis Type 4
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait disturbance, Babinski sign, Spastic pa... ORPHA:357043
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Neuronopathy, Distal Hereditary Motor, Type Viib
Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration, Kyphosis, Waddling gait OMIM:618138
Fleck Retina Of Kandori
Blindness, Nyctalopia OMIM:228990
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness OMIM:601553
Spastic Paraplegia 63, Autosomal Recessive
Impaired vibration sensation at ankles, Gait disturbance, Babinski sign, Spastic paraplegia, Scis... OMIM:615686
Huntington Disease
Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Cerebellar atrophy, Brady... OMIM:143100
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spastic Paraplegia 57, Autosomal Recessive
Somatic sensory dysfunction, Optic atrophy, Hand muscle atrophy, Babinski sign, Spastic paraplegi... OMIM:615658
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Spasticity, Childhood-Onset, With Hyperglycinemia
Spasticity, Abnormal pyramidal sign, Spastic ataxia, Spastic diplegia, Gait disturbance, Decrease... OMIM:616859
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Hypoplasia of... OMIM:615643
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Visual impairment OMIM:153840
Retinitis Pigmentosa 29
Blindness OMIM:612165
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:611543
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... OMIM:158600
Choroideremia
Progressive visual loss, Visual impairment, Myopia, Nyctalopia, Abnormality of vision ORPHA:180
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Abnormal periventricular white matter morphology, Bradykinesia ORPHA:306686
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Anxiety OMIM:118700
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Cerebral cortical atrophy, Cognitive impairment, Truncal ... ORPHA:320391
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Spastic gait, Babinski sign, Skeletal muscle atrophy, Difficulty walkin... OMIM:615681
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cereb... ORPHA:329284
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Fiber ... OMIM:620011
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness OMIM:618345
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus... OMIM:601472
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis, Focal T2 hyperintense basal ganglia ... OMIM:619052
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Abnormal pyramidal sign, Subcortical white matter calcifications... ORPHA:542310
Cone-Rod Dystrophy 12
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:612657
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Distal lower limb amyotrophy, Gait disturbance, Foot dorsiflexor weaknes... OMIM:614881
Stargardt Disease 3
Reduced visual acuity, Visual impairment OMIM:600110
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Central scotoma OMIM:608850
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Torticollis, Unsteady gait, Bradykinesia ORPHA:210571
Spastic Paraplegia 31, Autosomal Dominant
Ankle clonus, Spastic gait, Lower limb muscle weakness, Babinski sign, Spastic paraplegia, Skelet... OMIM:610250
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of anterior horn cells, Proxima... OMIM:253400
Autosomal Recessive Spastic Paraplegia Type 43
Poor fine motor coordination, Knee flexion contracture, Spasticity, Spastic gait, Babinski sign, ... ORPHA:320370
Temporal Arteritis
Blindness OMIM:187360
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Limb ataxia, Babinski sign, Basal ganglia calcification, Hypertonia, Brad... OMIM:618824
Progressive Non-Fluent Aphasia
Lewy bodies, Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramida... ORPHA:100070
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Shuffling gait, Falls, Frontotemporal cerebral atrophy, Parkinsonism, Short... ORPHA:412066
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Ankle clonus, Impaired vibration sensation at ankles, Lower limb muscle weakness, Ata... ORPHA:100985
Cone Rod Dystrophy
Color vision defect, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Autosomal Recessive Spastic Paraplegia Type 76
Gait ataxia, Ankle clonus, Lower limb muscle weakness, Limb ataxia, Ataxia, Babinski sign, Skelet... ORPHA:488594
Spastic Paraplegia 80, Autosomal Dominant
Upper limb spasticity, Gait disturbance, Limb ataxia, Babinski sign, Spastic paraplegia, Lower li... OMIM:618418
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Flexion contracture, Peripheral axonal degeneration, Frequent falls, C... ORPHA:101097
Hemiparkinsonism-Hemiatrophy Syndrome
Brain atrophy, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Cerebral cortical hemiatrop... ORPHA:306669
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Somatic sensory dysfunction, Flexion contracture, Optic atrophy, Ba... ORPHA:99947
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradyk... OMIM:607688
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Decreased body weight, Scissor gait, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Retinitis Pigmentosa 18
Progressive visual field defects, Scotoma, Nyctalopia OMIM:601414
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Axonal regeneration, Par... OMIM:605285
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Diffus... OMIM:619279
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture, Tip-toe gait, Spastic gait, Skeletal muscle atrophy, Difficulty walking... ORPHA:401785
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Abolished vibration sense, Motor axonal neuropathy, Axonal loss, Decreased motor nerv... OMIM:620068
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Visual impairment, Paracentral scotoma OMIM:619614
Retinitis Pigmentosa 20
Severely reduced visual acuity, Nyctalopia, Visual impairment OMIM:613794
Spastic Paraplegia 2, X-Linked
Flexion contracture, Optic atrophy, Spastic gait, Lower limb muscle weakness, Babinski sign, Spas... OMIM:312920
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Decreased motor nerve ... OMIM:615490
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Nyctalopia OMIM:619977
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Leber Congenital Amaurosis 3
Visual loss, Constriction of peripheral visual field, Nyctalopia OMIM:604232
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Peripheral axonal neuropathy, ... OMIM:610743
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness, Steppage gait OMIM:618036
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Color vision defect, Visual impairment, Myopia, Reduced visual acuity, Nyctalopia OMIM:304020
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Spasticity of facial muscles, Spastic gait, Appendicular spasticity, S... OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:607706
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Lethargy, Ataxia OMIM:618683
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Paresthesia, Motor axonal neuropathy, Impaired tactile sensation, EMG: myopa... OMIM:619216
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Sensory axonal neuropathy, Dysmetria,... OMIM:607458
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Dysdiadochokinesis, Axonal loss, Progressive gait ataxia, Clumsiness, ... ORPHA:1175
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Bietti Crystalline Dystrophy
Blindness, Large central visual field defect, Central scotoma, Paracentral scotoma, Color vision ... ORPHA:41751
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Brain atrophy,... ORPHA:391411
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Hsd10 Mitochondrial Disease
Spasticity, Cerebral cortical atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Abnor... OMIM:300438
Retinitis Pigmentosa 35
Blindness, Nyctalopia OMIM:610282
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:276902
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia, Resting tremor, Parkinsonism, R... ORPHA:411602
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Nyctalopia OMIM:617781
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Reduced visual acuity, Photophobia, Visual impairment OMIM:204870
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Torticollis, Cerebellar atrophy, Bradykinesia ORPHA:71517
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 1
Chorea, Gait imbalance, Dysdiadochokinesis, Abnormal brainstem morphology, Postural tremor, Gait ... ORPHA:98755
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment OMIM:228980
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Caudate atr... OMIM:617435
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Decreased body weight, Abnormal pyramidal sign, In... OMIM:617672
Hereditary Motor And Sensory Neuropathy V
Spasticity, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Babinski sign, Li... OMIM:600361
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Mild myopia, Nyctalopia OMIM:617024
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Wrist flexion contracture, Impaired distal vibration sensation, Wrist drop, Distal lower limb amy... OMIM:619519
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Dementia, Ataxia, Cerebellar atrophy, Neurodegeneration OMIM:615889
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy ORPHA:217012
Spastic Paraplegia 55, Autosomal Recessive
Impaired distal vibration sensation, Onion bulb formation, Optic atrophy, Lower limb muscle weakn... OMIM:615035
Ravine Syndrome
Spasticity, Decreased body weight, Abnormal brainstem morphology, Ataxia, Failure to thrive, Atro... ORPHA:99852
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... ORPHA:454887
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Calf muscle hypertrophy, Tremor, Skeletal muscle atrophy, Difficulty wal... OMIM:615048
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Rigidity, Action tremor, Bradykinesia OMIM:606438
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Global brain atrophy, Chorea, Abnormal pyramidal sign, Spastic dysarthria, Clumsines... ORPHA:282166
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Peripheral axonal neuropathy, D... OMIM:613710
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia OMIM:136880
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Ataxia, Babinski sign, EMG: myopathic abnormalities, Ragged... OMIM:500002
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Adrenomyeloneuropathy
Progressive spastic paraparesis, Back pain, Female sexual dysfunction, Abnormality of central som... ORPHA:139399
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Leber Congenital Amaurosis 16
Visual field defect, Photophobia, Visual impairment, Reduced visual acuity, Nyctalopia OMIM:614186
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Vocal ... OMIM:614895
Dysequilibrium Syndrome
Ataxia, Skeletal muscle atrophy, Cerebral palsy, Gait disturbance ORPHA:1766
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... OMIM:615957
Autosomal Recessive Progressive External Ophthalmoplegia
Paresthesia, Shuffling gait, Parkinsonism with favorable response to dopaminergic medication, Ata... ORPHA:254886
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Frequent falls, Ataxia OMIM:615945
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Decreased mitochondrial number, Gait disturbance, Difficulty walking, Slender build ORPHA:352470
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Palatal tremor, Rosenthal fibers, Ataxia, Abnormal cerebral ... ORPHA:363717
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Postural tremor, Lower limb muscle weakness, Decreased ... ORPHA:3115
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Severely reduced visual acuity, Blindness OMIM:309555
Spastic Paraplegia 42, Autosomal Dominant
Babinski sign, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia OMIM:612539
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Lower limb muscle weakness, Ataxia, Spastic paraplegia, Babinski sign... OMIM:610357
Dystonia 23
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Ax... OMIM:614860
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Persistent Placoid Maculopathy
Scintillating scotoma, Amblyopia, Metamorphopsia, Reduced visual acuity ORPHA:97341
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Akinesia, Resting tremor, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... OMIM:619911
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Generalized amyotrophy, ... ORPHA:401820
Retinitis Pigmentosa 3
Reduced visual acuity, Color vision defect, Constriction of peripheral visual field, Ring scotoma... OMIM:300029
Cone-Rod Dystrophy 21
Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis, Distal amyotrophy OMIM:158580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Short neck,... OMIM:611890
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, Po... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Primary Lateral Sclerosis
Somatic sensory dysfunction, Spasticity, Progressive spastic paraparesis, Motor axonal neuropathy... ORPHA:35689
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Hyperlordosis, Abnormal lower motor neuron morphology, Difficulty walking, Scoliosis, Waddling gait OMIM:611067
Macular Dystrophy, Retinal, 2
Reduced visual acuity, Central scotoma, Dyschromatopsia OMIM:608051
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal pyramidal sign, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic te... ORPHA:247604
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls ORPHA:494526
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Distal lower limb amyotrophy, Inability to walk, Decreased motor ner... ORPHA:101077
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Spastic dysarthria, Babinski sign, Spastic tetraparesis, Abnormal upper motor neuro... OMIM:611637
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:101150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Poor fine motor coordination, Abolished vibration sense, Frequent falls, Difficulty walking, Step... ORPHA:435387
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia OMIM:614494
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Decreased activity of mitochondrial complex III, Decreased activity of mitochondri... OMIM:500013
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Huntington Disease-Like 1
Gait ataxia, Chorea, Poor fine motor coordination, Cerebral cortical atrophy, Clumsiness, Gait di... ORPHA:157941
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Inability to walk, Ataxia, Waddling gait, Scoliosis, Cerebral atrophy, Lower limb spast... OMIM:616756
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Reduced visual acuity, Central scotoma OMIM:619382
Idiopathic Camptocormia
Lewy bodies, Parkinsonism, Abnormal cerebral white matter morphology, Amyotrophic lateral scleros... ORPHA:1320
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Visual impairment OMIM:153700
Cone-Rod Dystrophy 15
Progressive visual loss, Color vision defect, Constriction of peripheral visual field, Photophobi... OMIM:613660
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Abnormal substantia nigra morphology, Shuffling gait, Parkinsonism, Rigidity, Gait di... ORPHA:289560
Tritanopia
Color vision test abnormality, Tritanomaly, Reduced visual acuity, Photophobia ORPHA:88629
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic paraplegia, Scoliosis, ... OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Lower limb muscle weakness, Torticollis, Myoclo... OMIM:607317
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Myoclonic spasms, Abnormal autonomic nervous system physiology, Poor coordi... ORPHA:478029
Retinitis Pigmentosa 73
Visual field defect, Blurred vision, Central scotoma, Color vision defect, Constriction of periph... OMIM:616544
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:615725
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... OMIM:618877
Blue Cone Monochromacy
Reduced visual acuity, Blue cone monochromacy, Visual impairment, Myopia, Photophobia OMIM:303700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Flexion... OMIM:609260
Macular Dystrophy, Patterned, 3
Reduced visual acuity OMIM:617111
Huntington Disease
Chorea, Poor fine motor coordination, Gait imbalance, Inability to walk, Involuntary movements, R... ORPHA:399
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Apraxia, Neuronal loss in central nervous s... OMIM:607485
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Hypermetropia, Color vision defect, Con... ORPHA:215
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Babinski sign... OMIM:606159
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Diffuse cerebral atrophy, Babinski sign, Spastic parapa... ORPHA:363654
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired vibration sensation in the lower limbs, Global brain atrophy, Cerebellar vermis atrophy,... ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Ankle clonus, Kyphosis, Spastic gait, Infertilit... OMIM:614409
Retinitis Pigmentosa Inversa With Deafness
Blindness OMIM:268010
Myopathy And Diabetes Mellitus
Skeletal myopathy, Tip-toe gait, Distal lower limb amyotrophy, Weakness of orbicularis oculi musc... ORPHA:2596
Spastic Paraplegia 76, Autosomal Recessive
Gait ataxia, Lower limb muscle weakness, Ataxia, Babinski sign, Spastic paraplegia, Sensory axona... OMIM:616907
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Optic atrophy, Dysdiadochokinesis, Ataxia, Spastic paraplegia, Babinski sign, Spast... OMIM:612319
Retinitis Pigmentosa 4
Visual field defect, Reduced visual acuity, Blindness, Nyctalopia OMIM:613731
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Inability to walk, Thin corpus callosum, Clumsiness, Paraparesis, Myoclonus, Ataxia, ... OMIM:617854
Spinocerebellar Ataxia 2
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Rigidity, Myoc... OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Polyglucosan Body Neuropathy, Adult Form
Paresthesia, Gait disturbance, Spastic paraplegia, Tetraparesis, Peripheral axonal neuropathy, Or... OMIM:263570
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity OMIM:300834
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Inability to walk, Abnormality of the mitochondrion, Diffuse cerebral atrophy, Tre... ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Paresthesia, Decreased motor nerve... OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Peripheral axonal neuropathy, Limb muscle weakness, Foot ... OMIM:618387
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies, Amyotrophic lateral sclerosis OMIM:619133
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired vibration sensation in the lower... OMIM:604360
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Retinitis Pigmentosa 27
Blindness, Nyctalopia, Visual impairment OMIM:613750
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, Reduced visual acuity, High myopia, Nyctalopia OMIM:615058
Gemignani Syndrome
Impaired pain sensation, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia ORPHA:2074
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Dementia, Lewy Body
Lewy bodies, Parkinsonism OMIM:127750
Retinal Cone Dystrophy 3A
Photophobia, Dyschromatopsia, Reduced visual acuity, High myopia, Nyctalopia OMIM:610024
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Spinal muscular atrophy, Spastic tetraplegia, Optic atrophy, Ataxia, Peripheral axona... OMIM:617207
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, ... ORPHA:101075
Manganese Poisoning
Akinesia, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abnorm... ORPHA:306682
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, Thenar muscle atrophy, Distal lower limb muscle weakness, First dorsal in... ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired distal vibration sensation, Onion bulb formation, Flexion contracture, Lower limb muscle... OMIM:607684
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebral atrophy, Eye of the tiger... OMIM:300894
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Cerebellar atrophy ORPHA:423296
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Reduced visual acuity, Blindness, Nyctalopia OMIM:600138
Charcot-Marie-Tooth Disease Type 4A
Poor fine motor coordination, Chronic axonal neuropathy, Inability to walk, Frequent falls, Impai... ORPHA:99948
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Tremor, Bradykinesia, Ataxia OMIM:617836
Spinocerebellar Ataxia 10
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Abnormality of extrapyramidal motor fun... OMIM:603516
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Proximal amyotrophy, Centrally nucleated skeletal... OMIM:271150
Infantile Dystonia-Parkinsonism
Chorea, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Cerebral palsy, Hypertonia, Brady... ORPHA:238455
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Microcephaly, Hypertoni... OMIM:261640
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Myopia, Reduced visual acuity, Nyctalopia OMIM:180100
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Dyschromatopsia, Visual loss, Visual impairment, Reduced visual a... ORPHA:75377
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Spasticity, Optic atrophy, Decreased activity of mitochondrial complex III,... OMIM:616811
Lethal Congenital Contracture Syndrome 7
Knee flexion contracture, Distal arthrogryposis, Paralysis, Facial diplegia, Skeletal muscle atro... OMIM:616286
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Loss of ambulation, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasc... OMIM:182980
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Foot dorsiflexor weakness, Proximal amyotro... OMIM:616040
Boucher-Neuhauser Syndrome
Gait ataxia, Spasticity, Ataxia, Hypogonadotropic hypogonadism, Spinocerebellar atrophy, Cerebell... OMIM:215470
Amyotrophic Lateral Sclerosis 11
Somatic sensory dysfunction, Upper motor neuron dysfunction, Decreased nerve conduction velocity,... OMIM:612577
Leber Congenital Amaurosis 4
Reduced visual acuity, Blindness, Nyctalopia OMIM:604393
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Skeletal muscle atroph... OMIM:253550
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... OMIM:615362
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Hyperintensity of cerebral white matte... OMIM:617013
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Generalized amyotrophy, Lower limb muscle weakness, Torticollis, Upper limb spasti... OMIM:619686
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Incoordination, Generalized cerebral atrophy/hypoplasia, Ataxia, Tr... ORPHA:36387
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar... OMIM:618093
Fragile X Tremor/Ataxia Syndrome
Gait ataxia, Poor fine motor coordination, Impaired distal vibration sensation, Dysdiadochokinesi... OMIM:300623
Leber Optic Atrophy And Dystonia
Spasticity, Athetosis, Upper motor neuron dysfunction, Bradykinesia OMIM:500001
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Spastic gait, Optic atrophy, Babinski sign, Spastic paraplegia, Skeletal mus... OMIM:613162
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Photophobia, Dyschromatopsia OMIM:618977
Retinal Capillary Malformation
Progressive visual loss, Amblyopia, Blindness, Vitreous floaters, Blurred vision, Paracentral sco... ORPHA:71213
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Decreased retinol-binding protein level, Visual impairment, Reduced visual acuity, N... OMIM:615147
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinal Cone Dystrophy 3B
Scotoma, Photophobia, Myopia, Reduced visual acuity, Nyctalopia OMIM:610356
Autosomal Recessive Spastic Paraplegia Type 74
Progressive spastic paraplegia, Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Diffi... ORPHA:468661
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity,... ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Lower limb muscle weakness, Decreased motor nerve conduction veloci... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal amyotrophy... OMIM:608673
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Neuronal loss in central nervous system, ... OMIM:615924
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Visual loss, Severely reduced visual acuity, Nyctal... ORPHA:59181
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... OMIM:606693
Retinitis Pigmentosa
Constriction of peripheral visual field, Nyctalopia OMIM:268000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment OMIM:616335
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradyki... ORPHA:240085
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Spinocerebellar Ataxia Type 8
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... ORPHA:98760
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Ataxia, Impaired pain sensation, Loss of ambulation, P... OMIM:618124
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia OMIM:613402
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Spastic gait, Lo... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Peroneal muscle ... ORPHA:100989
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Corneal Dystrophy, Lattice Type Iiia
Reduced visual acuity, Visual impairment OMIM:608471
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Distal lower... OMIM:600882
Parkinson Disease 17
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia OMIM:614203
Macular Degeneration, Early-Onset
Reduced visual acuity OMIM:616118
Cone-Rod Dystrophy 13
Color vision defect, Reduced visual acuity, Photophobia, Visual impairment OMIM:608194
Neuroferritinopathy
Chorea, Iron accumulation in substantia nigra, Blepharospasm, Abnormal putamen morphology, Restin... ORPHA:157846
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Spastic gait, Lo... ORPHA:171863
Cone-Rod Dystrophy 2
Blindness, Central scotoma, Color vision defect, Constriction of peripheral visual field, Metamor... OMIM:120970
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Limb hypertonia, Parkinsonism, Hypertonia, Broad-based gait, Bradykinesia OMIM:617384
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma OMIM:136550
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Reduced visual acuity OMIM:165510
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy OMIM:162100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Spasticity, Ankle clonus, Lower limb muscle weakn... OMIM:613954
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Optic atrophy, Postural trem... OMIM:615491
Retinitis Pigmentosa 62
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:614181
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Thenar muscle weakness, Postural tremor, Spastic... OMIM:270685
Pontocerebellar Hypoplasia Type 1
Spasticity, Cerebral cortical atrophy, Optic atrophy, Degeneration of anterior horn cells, Ataxia... ORPHA:2254
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired distal vibration sensation, Onion bulb formation, Fatty replacement of skeletal muscle, ... OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Wrist drop, Decreased ... OMIM:616688
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Abnormal s... ORPHA:139578
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Hypoplasia of the frontal lobes, Spasticity, Abnormal mitochondrial shape, Diffuse c... ORPHA:543470
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Retinitis Pigmentosa 69
Reduced visual acuity, Constriction of peripheral visual field, Nyctalopia OMIM:615780
Alzheimer Disease 3
Cerebral cortical atrophy, Apraxia, Abnormality of ext