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 |
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Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Spastic Paraplegia 18, Autosomal Recessive |
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Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic paraplegia, Scoliosis, ... |
OMIM:611225 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Gait ataxia, Spasticity, Abnormal pyramidal sign, Lower limb muscle weakness, Torticollis, Myoclo... |
OMIM:607317 |
Combined Oxidative Phosphorylation Defect Type 29 |
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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 |
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Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:615725 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:618877 |
Blue Cone Monochromacy |
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Reduced visual acuity, Blue cone monochromacy, Visual impairment, Myopia, Photophobia |
OMIM:303700 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Flexion... |
OMIM:609260 |
Macular Dystrophy, Patterned, 3 |
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Reduced visual acuity |
OMIM:617111 |
Huntington Disease |
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Chorea, Poor fine motor coordination, Gait imbalance, Inability to walk, Involuntary movements, R... |
ORPHA:399 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Apraxia, Neuronal loss in central nervous s... |
OMIM:607485 |
Congenital Stationary Night Blindness |
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Congenital stationary night blindness with normal fundus, Hypermetropia, Color vision defect, Con... |
ORPHA:215 |
Spinocerebellar Ataxia 20 |
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Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Babinski sign... |
OMIM:606159 |
Tremor, Hereditary Essential, 1 |
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Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Spasticity, Ankle clonus, Resting tremor, Diffuse cerebral atrophy, Babinski sign, Spastic parapa... |
ORPHA:363654 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Impaired vibration sensation in the lower limbs, Global brain atrophy, Cerebellar vermis atrophy,... |
ORPHA:94124 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Spastic Paraplegia 46, Autosomal Recessive |
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Impaired vibration sensation in the lower limbs, Ankle clonus, Kyphosis, Spastic gait, Infertilit... |
OMIM:614409 |
Retinitis Pigmentosa Inversa With Deafness |
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Blindness |
OMIM:268010 |
Myopathy And Diabetes Mellitus |
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Skeletal myopathy, Tip-toe gait, Distal lower limb amyotrophy, Weakness of orbicularis oculi musc... |
ORPHA:2596 |
Spastic Paraplegia 76, Autosomal Recessive |
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Gait ataxia, Lower limb muscle weakness, Ataxia, Babinski sign, Spastic paraplegia, Sensory axona... |
OMIM:616907 |
Retinitis Pigmentosa 17 |
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Color vision defect, Photophobia, Nyctalopia |
OMIM:600852 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Ankle clonus, Optic atrophy, Dysdiadochokinesis, Ataxia, Spastic paraplegia, Babinski sign, Spast... |
OMIM:612319 |
Retinitis Pigmentosa 4 |
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Visual field defect, Reduced visual acuity, Blindness, Nyctalopia |
OMIM:613731 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Spasticity, Inability to walk, Thin corpus callosum, Clumsiness, Paraparesis, Myoclonus, Ataxia, ... |
OMIM:617854 |
Spinocerebellar Ataxia 2 |
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Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Rigidity, Myoc... |
OMIM:183090 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Polyglucosan Body Neuropathy, Adult Form |
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Paresthesia, Gait disturbance, Spastic paraplegia, Tetraparesis, Peripheral axonal neuropathy, Or... |
OMIM:263570 |
Macular Degeneration, Atrophic, X-Linked |
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Reduced visual acuity |
OMIM:300834 |
Muscular Atrophy, Malignant Neurogenic |
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Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
Gerstmann-Straussler Disease |
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Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic atrophy, Inability to walk, Abnormality of the mitochondrion, Diffuse cerebral atrophy, Tre... |
ORPHA:330050 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Paresthesia, Decreased motor nerve... |
OMIM:601098 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Gait ataxia, Ataxia, Dysmetria, Tremor, Peripheral axonal neuropathy, Limb muscle weakness, Foot ... |
OMIM:618387 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Lewy bodies, Amyotrophic lateral sclerosis |
OMIM:619133 |
Spastic Paraplegia 11, Autosomal Recessive |
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Decreased number of peripheral myelinated nerve fibers, Impaired vibration sensation in the lower... |
OMIM:604360 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Retinitis Pigmentosa 27 |
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Blindness, Nyctalopia, Visual impairment |
OMIM:613750 |
Night Blindness, Congenital Stationary, Type 1F |
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Congenital stationary night blindness, Reduced visual acuity, High myopia, Nyctalopia |
OMIM:615058 |
Gemignani Syndrome |
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Impaired pain sensation, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia |
ORPHA:2074 |
Migraine, Familial Hemiplegic, 3 |
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Photophobia, Blindness |
OMIM:609634 |
Dementia, Lewy Body |
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Lewy bodies, Parkinsonism |
OMIM:127750 |
Retinal Cone Dystrophy 3A |
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Photophobia, Dyschromatopsia, Reduced visual acuity, High myopia, Nyctalopia |
OMIM:610024 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
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Spasticity, Spinal muscular atrophy, Spastic tetraplegia, Optic atrophy, Ataxia, Peripheral axona... |
OMIM:617207 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Abnormal nerve conduction velocity, Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, ... |
ORPHA:101075 |
Manganese Poisoning |
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Akinesia, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abnorm... |
ORPHA:306682 |
Distal Hereditary Motor Neuropathy Type 5 |
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Thenar muscle weakness, Thenar muscle atrophy, Distal lower limb muscle weakness, First dorsal in... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
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Impaired distal vibration sensation, Onion bulb formation, Flexion contracture, Lower limb muscle... |
OMIM:607684 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebral atrophy, Eye of the tiger... |
OMIM:300894 |
Spinocerebellar Ataxia Type 38 |
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Gait ataxia, Tremor, Cerebellar atrophy |
ORPHA:423296 |
Retinitis Pigmentosa 11 |
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Constriction of peripheral visual field, Reduced visual acuity, Blindness, Nyctalopia |
OMIM:600138 |
Charcot-Marie-Tooth Disease Type 4A |
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Poor fine motor coordination, Chronic axonal neuropathy, Inability to walk, Frequent falls, Impai... |
ORPHA:99948 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Rigidity, Tremor, Bradykinesia, Ataxia |
OMIM:617836 |
Spinocerebellar Ataxia 10 |
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Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Abnormality of extrapyramidal motor fun... |
OMIM:603516 |
Spinal Muscular Atrophy, Type Iv |
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Increased variability in muscle fiber diameter, Proximal amyotrophy, Centrally nucleated skeletal... |
OMIM:271150 |
Infantile Dystonia-Parkinsonism |
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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 |
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Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spastic Ataxia 2, Autosomal Recessive |
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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 |
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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 |