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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.

DSS Histology

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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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
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Cho... OMIM:610217
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... ORPHA:199351
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... OMIM:612953
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Abnormality of peripheral nerve conduction... 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
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Motor deterioration, ... ORPHA:98765
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege... OMIM:614436
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... OMIM:602433
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Symmetric lesions of the basal ganglia, Tremor, Rigidity, Gait dist... OMIM:609161
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
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
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Hand muscle atrophy, Distal sensory impairment, Motor ax... ORPHA:98856
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Lewy bodies, Rigidity, Substantia nigra gliosis, Parkinsonism, Parkinsonism with ... OMIM:607060
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased motor nerve conduction v... OMIM:214400
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Inability to w... ORPHA:482601
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Retinitis Pigmentosa 35
Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Hypoplasia of the corpus ... OMIM:300423
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu... OMIM:302800
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Lewy bodies, Rigidity, Parkinsonism, Parkinson... OMIM:311510
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention t... ORPHA:98762
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration, Gait disturbance, Steppage gait, Scoliosis OMIM:616155
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunctio... OMIM:221820
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma OMIM:616289
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Reduced visual acuity, Central scotoma OMIM:616152
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Reduced visual acuity, Moderate myopia, Congenital stationary night blindness OMIM:163500
Cataract 7
Visual loss, Mildly reduced visual acuity OMIM:115660
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impair... ORPHA:99013
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Lewy bodies, Tremor, Rigidity, Substantia nigra gli... OMIM:168600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Progressive spastic parapleg... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Cerebral calcification, Gait ataxia... ORPHA:101110
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Impair... OMIM:612335
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, L... ORPHA:75567
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelina... OMIM:604168
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Lewy bodies, Rigidity, Parkinsonism, Bradykinesia OMIM:614251
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Cho... OMIM:610217
Parkinson Disease 21
Lewy bodies, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Frontotemporal cerebral atrophy, Falls, Diffuse cer... ORPHA:412066
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Nyctalopia, Ring scotoma OMIM:607476
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Caudate atrophy, Weight l... ORPHA:98934
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hyperton... OMIM:182960
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Cerebellar atro... OMIM:618276
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Eye of the tiger anomaly of globus pallidus, Neurodegeneration, L... OMIM:614298
Ceroid Lipofuscinosis, Neuronal, 7
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Babinski sign, Bradykinesia, Decreased activity of mitochondrial ... OMIM:619063
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hy... OMIM:618317
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Foot dorsiflexor we... ORPHA:497764
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Lewy bo... OMIM:616840
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Lewy bodies, Rigidity, Substantia nigra gliosis, Babinski ... ORPHA:171695
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia,... OMIM:611105
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Falls, Failure to thrive, Axonal degeneration, Clonus, Scoliosis OMIM:618811
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Lewy bodies, Rigidity, Loss of a... OMIM:168601
Nystagmus 3, Congenital, Autosomal Dominant
Reduced visual acuity OMIM:608345
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Abnormal caudate nucleus morphology, Tremor, Rigidity, Diffuse cerebr... ORPHA:314632
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neuronopathy, Distal Hereditary Motor, X-Linked
Abnormal peripheral nervous system morphology, Distal amyotrophy, Distal sensory impairment, Spin... OMIM:300489
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Babi... OMIM:128230
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Retinitis Pigmentosa 78
Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia OMIM:617433
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Cerebellar atrophy, Cerebellar vermis atrophy, ... ORPHA:248111
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Gait dis... ORPHA:357043
Choroideremia
Abnormality of vision, Progressive visual loss, Nyctalopia, Myopia, Visual impairment ORPHA:180
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... OMIM:615686
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
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 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Basal Ganglia Calcification, Idiopathic, 1
Basal ganglia calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyr... OMIM:213600
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Parkinsonism, Bradyk... ORPHA:329284
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Abnormal periventricular white matter morphology, Rigidity ORPHA:306686
Retinitis Pigmentosa 29
Blindness OMIM:612165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait OMIM:618138
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:611543
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Visual impairment OMIM:153840
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Hypoplasia of the corpus callosum, Rigidity... OMIM:615643
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Impaired pain sensation, Upper limb muscle weakness, Lower limb muscle weakness, C... OMIM:618511
Chorea, Benign Hereditary
Dementia, Chorea, Gait disturbance OMIM:118700
Cone-Rod Dystrophy 12
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:612657
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Caribbean Parkinsonism
Cerebral cortical atrophy, T2 hypointense basal ganglia, Midline brain calcifications, Myoclonus,... ORPHA:97355
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness OMIM:618345
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... OMIM:601472
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment OMIM:610189
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Deafness, Autosomal Recessive 55
Reduced visual acuity OMIM:609952
Deafness, Autosomal Recessive 47
Reduced visual acuity OMIM:609946
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Reduced sperm motility, Cerebral... ORPHA:320391
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... OMIM:619279
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Brad... OMIM:618824
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... OMIM:614881
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intentio... OMIM:601238
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal sign, Spasti... OMIM:619052
Prolonged Electroretinal Response Suppression 2
Photophobia, Reduced visual acuity, Difficulty adjusting to changes in luminance, Mildly reduced ... OMIM:620344
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait, Bradykinesia ORPHA:210571
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Temporal Arteritis
Blindness OMIM:187360
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Cerebellar atrophy, Neurodegeneration, Ataxia, Dementia, Premature ovarian insufficiency OMIM:615889
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensation, Quadriceps... ORPHA:99947
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesi... ORPHA:306669
Cone Rod Dystrophy
Color vision defect, Visual impairment, Photophobia, Nyctalopia ORPHA:1872
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Gait disturbance, Bradykin... OMIM:618418
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Impaired vibratory sensation, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... OMIM:615490
Retinitis Pigmentosa 92
Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Nyctalopia OMIM:619614
Retinitis Pigmentosa 18
Scotoma, Progressive visual field defects, Nyctalopia OMIM:601414
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Stargardt Disease 3
Reduced visual acuity, Visual impairment OMIM:600110
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia ORPHA:401805
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... OMIM:615681
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Knee flexion contracture, Lower limb s... ORPHA:401785
Leber Congenital Amaurosis 3
Constriction of peripheral visual field, Visual loss, Nyctalopia OMIM:604232
Retinitis Pigmentosa 20
Severely reduced visual acuity, Visual impairment, Nyctalopia OMIM:613794
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Abnormal mitochondrial morphology, Spastic ... OMIM:300438
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Bietti Crystalline Dystrophy
Color vision defect, Visual impairment, Constriction of peripheral visual field, Blindness, Centr... ORPHA:41751
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Nyctalopia OMIM:619977
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal vibration sensation OMIM:618036
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Intracerebral periventricular calcifications, Basal ganglia calc... ORPHA:542310
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Lowe... OMIM:620068
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia OMIM:304020
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Reduced visual acuity, Mildly reduced visual a... OMIM:620629
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Limb... OMIM:604320
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Parkinsonism, Abno... OMIM:615528
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Limb ataxia, Intention ... ORPHA:1175
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Lewy bodies, Rigidity, Parki... ORPHA:411602
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Limb muscle weakness, Tre... OMIM:607458
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Bradykinesia OMIM:606438
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:276902
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal lower limb amyotrophy, Claw hand deformity, Distal sensory impairment,... OMIM:605285
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Nyctalopia OMIM:617781
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Fleck Retina, Familial Benign
Visual impairment, Nyctalopia OMIM:228980
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus... OMIM:617435
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor, Cerebellar atrophy ORPHA:217012
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Dis... OMIM:615048
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia OMIM:136880
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Peripheral axo... OMIM:613710
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Inherited Creutzfeldt-Jakob Disease
Diffuse spongiform leukoencephalopathy, Global brain atrophy, Central nervous system degeneration... ORPHA:282166
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Macular Dystrophy, Patterned, 2
Reduced visual acuity OMIM:608970
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Difficulty walking, Limb muscle weakness, Foot dorsiflexor weaknes... OMIM:600361
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Cerebellar atrophy, Limb ataxia, Gait disturbance, A... OMIM:616230
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Dysequilibrium Syndrome
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidity, Action trem... ORPHA:254886
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal si... ORPHA:363717
Adrenomyeloneuropathy
Spasticity, Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraparesis, ... ORPHA:139399
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Retinitis Pigmentosa 27
Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia, Visual imp... OMIM:613750
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Decreased mitochondrial number, Gait disturbance, Hyperlordosis ORPHA:352470
Huntington Disease
Involuntary movements, Degeneration of the striatum, Cerebral atrophy, Difficulty walking, Inabil... ORPHA:399
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ... OMIM:619911
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Abnormal brainstem morphology,... ORPHA:98755
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Blindness, Severely reduced visual acuity OMIM:309555
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dysto... OMIM:614860
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Reduced visual acuity,... OMIM:300029
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... ORPHA:401820
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty walking, Inability to walk, ... OMIM:611890
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Abn... ORPHA:157941
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Pontocereb... OMIM:616053
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Eye of the tiger anomaly of globus pal... OMIM:300894
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina on... OMIM:614895
Persistent Placoid Maculopathy
Metamorphopsia, Scintillating scotoma, Reduced visual acuity, Amblyopia ORPHA:97341
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Abnormal lower motor neuron morphology, Hyperlordosis, Scoliosis, Waddling gait OMIM:611067
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Myoclonus, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Decreas... ORPHA:478029
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Congenital Stationary Night Blindness
Color vision defect, Congenital stationary night blindness with abnormal fundus, Congenital stati... ORPHA:215
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... OMIM:613660
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas... ORPHA:247604
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Abnormal substantia nigra morpholog... ORPHA:289560
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia OMIM:614494
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Blurred vision, Central scotoma, Vi... OMIM:616544
Idiopathic Camptocormia
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Lewy bodies, ... ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Reduced visual acuity, Pericentral scotoma, Nyctalopia, Myopia, Pho... OMIM:620342
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Thenar muscle weakness, Impaired... ORPHA:171617
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Visual impairment OMIM:153700
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Polymicrogyria, Inability to walk, Gait ataxia, Myoc... OMIM:618877
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb ... OMIM:616756
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies, Apraxia, Parkinsonism, Neuronal ... OMIM:607485
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc... ORPHA:3115
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, My... OMIM:607317
Tritanopia
Color vision test abnormality, Reduced visual acuity, Photophobia, Tritanomaly ORPHA:88629
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
Reduced visual acuity, Central scotoma OMIM:619382
Retinitis Pigmentosa 4
Visual field defect, Reduced visual acuity, Blindness, Nyctalopia OMIM:613731
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:615725
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Global brain atrophy, Spinocerebellar tract degeneration, ... ORPHA:94124
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Cavitation of the basal ganglia, Neurodegeneration, Chorea, Tremor, Ri... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Decreased activity of mito... OMIM:500013
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Blue Cone Monochromacy
Visual impairment, Reduced visual acuity, Myopia, Blue cone monochromacy, Photophobia OMIM:303700
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Myoclonus, Tre... OMIM:137440
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Night Blindness, Congenital Stationary, Type 1F
Reduced visual acuity, High myopia, Nyctalopia, Congenital stationary night blindness OMIM:615058
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Impaired distal vibration sensation, Distal lower limb amyotrophy, Distal uppe... OMIM:619519
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, De... OMIM:118210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Cortical dysplasia, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Brad... ORPHA:36387
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma, Dyschromatopsia OMIM:136550
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Impaired vibratory sensation, Weakness of orbicularis oculi muscl... ORPHA:2596
Macular Dystrophy, Retinal, 2
Reduced visual acuity, Central scotoma, Dyschromatopsia OMIM:608051
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Manganese Poisoning
Postural tremor, Akinesia, Abnormality of mitochondrial metabolism, Cogwheel rigidity, Abnormalit... ORPHA:306682
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... OMIM:263570
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dys... OMIM:612319
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Reduced visual acuity OMIM:165510
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Abnormality of extrapyramidal moto... OMIM:607822
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... OMIM:607731
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607677
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... OMIM:616907
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies, Amyotrophic lateral sclerosis OMIM:619133
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Secondary microcephaly, Myoclonus, Pontocerebell... OMIM:617854
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Myopia OMIM:180100
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness OMIM:601553
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Distal amyotrophy, Cerebral atrophy, Head tremor, Impaired vibration sensation in the... ORPHA:352641
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal se... OMIM:618387
Dementia, Lewy Body
Parkinsonism, Lewy bodies OMIM:127750
Macular Dystrophy, Patterned, 3
Reduced visual acuity OMIM:617111
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia OMIM:600138
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Rigidity, Tremor, Ataxia OMIM:617836
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Di... OMIM:609260
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Cerebellar atrophy ORPHA:423296
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Microcephaly, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, ... OMIM:261640
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty w... ORPHA:100989
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Decreas... OMIM:616811
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ... OMIM:615924
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100999
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Dis... OMIM:603516
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext... OMIM:615362
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Ravine Syndrome
Spasticity, Failure to thrive, Abnormal brainstem morphology, Decreased body weight, Atrophy/Dege... ORPHA:99852
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity OMIM:300834
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:240085
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Inability to walk, Secondary micr... OMIM:617013
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Dyschromatopsia, Visual loss, Reduced visual acuity, Nyctalopia, ... ORPHA:75377
Leber Congenital Amaurosis 4
Reduced visual acuity, Blindness, Nyctalopia OMIM:604393
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Hypogonadotr... OMIM:215470
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Retinal Cone Dystrophy 3B
Scotoma, Reduced visual acuity, Nyctalopia, Myopia, Photophobia OMIM:610356
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Spasticity, Athetosis, Bradykinesia OMIM:500001
Retinitis Pigmentosa
Constriction of peripheral visual field, Nyctalopia OMIM:268000
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Decreased retinol-binding protein level, Reduced visual acuity, Nyctalopia, Tritanomaly, Visual i... OMIM:615147
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Dysplastic corpus callosum, Babinski ... OMIM:613162
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... ORPHA:468661
Retinal Capillary Malformation
Blindness, Blurred vision, Vitreous floaters, Reduced visual acuity, Progressive visual loss, Amb... ORPHA:71213
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Peripheral axona... OMIM:618124
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Optic Atrophy 12
Abnormal Ishihara plate test, Photophobia, Reduced visual acuity, Dyschromatopsia OMIM:618977
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia OMIM:617384
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Optic atrophy, Cerebella... OMIM:619686
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Visual loss, Nyctalopia, Severely reduced visual acuity, Large central visual field de... ORPHA:59181
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Abnormal periventricular white matter morphology, Cogwheel rigidity, Myoc... OMIM:619725
Cone-Rod Dystrophy 13
Color vision defect, Reduced visual acuity, Visual impairment, Photophobia OMIM:608194
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:615780
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia OMIM:613402
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Poor fine motor coordinatio... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Impaired pain sensation, Lower limb muscle weakness, Foot dor... OMIM:607684
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Eye of the tiger anomaly of globus pallidus... ORPHA:157846
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3