| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| 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 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| 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 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Triceps wea... |
ORPHA:482601 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Impaired distal vibrat... |
OMIM:614436 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l... |
ORPHA:98856 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Symmetric lesions of the basal ganglia, Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesi... |
OMIM:609161 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... |
DECIPHER:29 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... |
OMIM:604484 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
| Nystagmus 2, Congenital, Autosomal Dominant |
|
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment |
OMIM:164100 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| 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 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Leber Congenital Amaurosis 11 |
|
Reduced visual acuity, Visual impairment |
OMIM:613837 |
| Retinitis Pigmentosa 35 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Shufflin... |
OMIM:311510 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Cerebral cort... |
ORPHA:306692 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis |
OMIM:616155 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Leukoencephalopathy... |
OMIM:221820 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
| Corneal Dystrophy, Avellino Type |
|
Reduced visual acuity, Visual impairment |
OMIM:607541 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... |
ORPHA:99013 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Decreased motor nerve conduction veloc... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal sensory impairmen... |
OMIM:616280 |
| Optic Atrophy 9 |
|
Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impairment |
OMIM:616289 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... |
OMIM:168600 |
| Macular Dystrophy, Vitelliform, 5 |
|
Central scotoma, Reduced visual acuity, Moderately reduced visual acuity |
OMIM:616152 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ... |
ORPHA:90103 |
| Cataract 7 |
|
Visual loss, Mildly reduced visual acuity |
OMIM:115660 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Cerebral calcification, Ataxia, Isometric tremor, Upper limb postural tremor,... |
ORPHA:101110 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Babinski sign, Spastic para... |
OMIM:612335 |
| Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... |
ORPHA:75567 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Lewy bodies |
OMIM:614251 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... |
ORPHA:100984 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia... |
OMIM:610217 |
| Parkinson Disease 21 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Lewy bodies |
OMIM:616361 |
| Newfoundland Rod-Cone Dystrophy |
|
Nyctalopia, Scotoma, Visual impairment, Color vision defect |
OMIM:607476 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Bradykin... |
ORPHA:521406 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Dystonia, Cerebral cor... |
ORPHA:98934 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Chronic axonal neuropat... |
OMIM:182960 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D... |
OMIM:618276 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... |
OMIM:614298 |
| Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal ganglia, Rigid... |
ORPHA:97355 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... |
ORPHA:88628 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Bab... |
OMIM:619063 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Basal ganglia calcification, Chorea, Hypoesthesia, Abnormal pyramidal sign,... |
OMIM:618317 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,... |
OMIM:617018 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... |
OMIM:607136 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
| Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... |
ORPHA:171695 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Optic atrophy, Distal sensory impai... |
OMIM:615043 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Scoliosis, Failure to thrive |
OMIM:618811 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... |
OMIM:611105 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Nystagmus 1, Congenital, X-Linked |
|
Mildly reduced visual acuity, Reduced visual acuity |
OMIM:310700 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... |
ORPHA:314632 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnormal peripheral nervous sy... |
OMIM:300489 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation... |
OMIM:128230 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... |
OMIM:615157 |
| Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, G... |
ORPHA:248111 |
| Retinitis Pigmentosa 78 |
|
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect |
OMIM:617433 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... |
OMIM:615025 |
| Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Visual impairment |
OMIM:610189 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, ... |
OMIM:616282 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal... |
ORPHA:357043 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait |
OMIM:618138 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Reduced visual acuity |
OMIM:601553 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gai... |
OMIM:615686 |
| 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 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... |
OMIM:143100 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... |
ORPHA:100070 |
| Leber Congenital Amaurosis 12 |
|
Congenital blindness |
OMIM:610612 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... |
OMIM:213600 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... |
OMIM:158600 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Babinski sign, Spastic p... |
OMIM:615658 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Abnormal periventricular white matter morphology, Rigidity |
ORPHA:306686 |
| Macular Dystrophy, Vitelliform, 1 |
|
Reduced visual acuity, Visual impairment, Visual field defect |
OMIM:153840 |
| Retinitis Pigmentosa 29 |
|
Blindness |
OMIM:612165 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iron accumula... |
ORPHA:329284 |
| Cavitary Optic Disc Anomalies |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:611543 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:618511 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, H... |
OMIM:615643 |
| Chorea, Benign Hereditary |
|
Chorea, Dementia, Gait disturbance |
OMIM:118700 |
| Choroideremia |
|
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment |
ORPHA:180 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Corpus callosum atrophy, Abnormal sperm head morpho... |
ORPHA:320391 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Babinski sign, Tip-toe gait, Difficulty w... |
OMIM:615681 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Diaphragmatic paralysis, Axonal degenerati... |
OMIM:620011 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ... |
OMIM:601472 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity |
ORPHA:228169 |
| Retinitis Pigmentosa 85 |
|
Progressive night blindness, Reduced visual acuity |
OMIM:618345 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... |
OMIM:619279 |
| Cone-Rod Dystrophy 12 |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
OMIM:612657 |
| Prolonged Electroretinal Response Suppression 2 |
|
Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ... |
OMIM:620344 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc... |
OMIM:614881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Focal T2 hyperintense basal ganglia ... |
OMIM:619052 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia |
ORPHA:210571 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Basal ganglia calcification, Babinski sign, Limb ataxia, Bradykinesia, Hy... |
OMIM:618824 |
| Stargardt Disease 3 |
|
Reduced visual acuity, Visual impairment |
OMIM:600110 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Distal sensory... |
OMIM:610250 |
| Temporal Arteritis |
|
Blindness |
OMIM:187360 |
| Macular Dystrophy, Retinal, 3 |
|
Central scotoma, Reduced visual acuity, Color vision defect |
OMIM:608850 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... |
OMIM:618418 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Cerebral cortical hemiatroph... |
ORPHA:306669 |
| Cone Rod Dystrophy |
|
Photophobia, Nyctalopia, Visual impairment, Color vision defect |
ORPHA:1872 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Depression, Dementia, Neurodegeneration |
OMIM:615889 |
| X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity |
ORPHA:401805 |
| Retinitis Pigmentosa 18 |
|
Nyctalopia, Progressive visual field defects, Scotoma |
OMIM:601414 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Retinitis Pigmentosa 92 |
|
Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment |
OMIM:619614 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Knee flexion contracture, Tip-toe gait, D... |
ORPHA:401785 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Retinitis Pigmentosa 20 |
|
Nyctalopia, Visual impairment, Severely reduced visual acuity |
OMIM:613794 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Abnormal mitochondrial morphology, Spastic tetraplegia, Choreoathetosis, Spasticit... |
OMIM:300438 |
| Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity |
OMIM:616079 |
| Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Macular Dystrophy, Retinal, 4 |
|
Nyctalopia, Reduced visual acuity |
OMIM:619977 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia |
ORPHA:71517 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness |
OMIM:618036 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:304020 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ... |
OMIM:619216 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... |
OMIM:611890 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| Bietti Crystalline Dystrophy |
|
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... |
ORPHA:41751 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... |
OMIM:604320 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Upper limb muscle weakness, Lower limb ... |
OMIM:617046 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
| X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ... |
ORPHA:1175 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:613643 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... |
OMIM:615528 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Parkinsonism with favorable response to dopamin... |
ORPHA:411602 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera... |
OMIM:605285 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
| Usher Syndrome, Type Iiia |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:276902 |
| Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... |
OMIM:612067 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| 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 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Babinski sign, Spastic paraple... |
OMIM:611225 |
| Fleck Retina, Familial Benign |
|
Nyctalopia, Visual impairment |
OMIM:228980 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, ... |
ORPHA:98755 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Hyperlordosis, Gait disturbance, Difficulty walking, Slender build |
ORPHA:352470 |
| Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal ... |
OMIM:615035 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia |
ORPHA:217012 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... |
ORPHA:454887 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri... |
OMIM:607706 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe... |
OMIM:613710 |
| Fundus Albipunctatus |
|
Nyctalopia, Fundus albipunctatus |
OMIM:136880 |
| Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
| Hereditary Motor And Sensory Neuropathy V |
|
Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Limb muscle weakness, Dista... |
OMIM:600361 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Spastic hemiparesis, Tremor, Chorea, Diffuse spongi... |
ORPHA:282166 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
| Sorsby Fundus Dystrophy |
|
Blindness |
OMIM:136900 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
| Macular Dystrophy, Patterned, 2 |
|
Reduced visual acuity |
OMIM:608970 |
| Leber Congenital Amaurosis 16 |
|
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment |
OMIM:614186 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Abnormal c... |
ORPHA:254886 |
| Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Cerebellar atrophy |
OMIM:615945 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Palatal tremor, Abnormal pyramidal sign, Spasticity, Abnormal cerebra... |
ORPHA:363717 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia |
OMIM:128235 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Back pain, Abnormal libido, Atrophy/Degeneration involving the co... |
ORPHA:139399 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... |
OMIM:619911 |
| Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Severely reduced visual acuity |
OMIM:309555 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
| Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... |
OMIM:610357 |
| Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
| Retinitis Pigmentosa 3 |
|
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... |
OMIM:300029 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:605909 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro... |
ORPHA:401820 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:616502 |
| Persistent Placoid Maculopathy |
|
Scintillating scotoma, Metamorphopsia, Reduced visual acuity, Amblyopia |
ORPHA:97341 |
| Retinitis Pigmentosa 27 |
|
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... |
OMIM:613750 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... |
OMIM:500013 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal... |
ORPHA:157941 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait... |
OMIM:614895 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... |
OMIM:616053 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis |
OMIM:611067 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... |
ORPHA:247604 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... |
OMIM:613660 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Retinitis Pigmentosa 63 |
|
Nyctalopia, Blurred vision |
OMIM:614494 |
| Macular Dystrophy, Retinal, 2 |
|
Central scotoma, Dyschromatopsia, Reduced visual acuity |
OMIM:608051 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
| Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... |
OMIM:620342 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal basal ganglia morphology, Cerebral atrophy,... |
ORPHA:1320 |
| Retinitis Pigmentosa 73 |
|
Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl... |
OMIM:616544 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Abnormal globus pallidus morphology... |
ORPHA:289560 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Hand mus... |
ORPHA:101077 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Decreased activity of mitochondrial com... |
ORPHA:478029 |
| Tritanopia |
|
Photophobia, Tritanomaly, Color vision test abnormality, Reduced visual acuity |
ORPHA:88629 |
| Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Central scotoma, Reduced visual acuity |
OMIM:619382 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atroph... |
OMIM:618877 |
| Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Visual impairment |
OMIM:153700 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Neuronal loss in central nervous system, Apraxia, Lewy bod... |
OMIM:607485 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
| Retinitis Pigmentosa 68 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:615725 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:118210 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Cavitation of the basal ganglia, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, C... |
OMIM:606159 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment |
OMIM:303700 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
| Congenital Stationary Night Blindness |
|
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... |
ORPHA:215 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610743 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... |
ORPHA:435387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Impaired distal vibration sensation, Distal sensory impairment, Wea... |
OMIM:619519 |
| Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity |
OMIM:617111 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... |
OMIM:603516 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign,... |
OMIM:614409 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Blindness |
OMIM:268010 |
| Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili... |
ORPHA:2596 |
| Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Color vision defect |
OMIM:600852 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Abnormal globus pallidus morphology, Abnormality of mitochondrial meta... |
ORPHA:306682 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Optic atr... |
OMIM:612319 |
| Retinitis Pigmentosa 4 |
|
Blindness, Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:613731 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... |
OMIM:616907 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Distal sensory impairm... |
OMIM:263570 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm... |
OMIM:607822 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro... |
OMIM:607731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus... |
OMIM:607677 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity... |
OMIM:183090 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... |
OMIM:617207 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Cortical dysplasia, Bradykinesia, Poor fine motor coordination, G... |
ORPHA:36387 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Macular Degeneration, Atrophic, X-Linked |
|
Reduced visual acuity |
OMIM:300834 |
| Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impai... |
OMIM:618387 |
| Night Blindness, Congenital Stationary, Type 1F |
|
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia |
OMIM:615058 |
| Retinal Cone Dystrophy 3A |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
| Dementia, Lewy Body |
|
Lewy bodies, Parkinsonism |
OMIM:127750 |
| Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Tremor,... |
OMIM:609260 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... |
OMIM:604360 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Ataxia, Tremor, Rigidity |
OMIM:617836 |
| Retinitis Pigmentosa 11 |
|
Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia |
OMIM:600138 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation |
ORPHA:2074 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, ... |
OMIM:261640 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Cerebellar atrophy, Gait ataxia |
ORPHA:423296 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
| Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
| Retinitis Pigmentosa 1 |
|
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity |
OMIM:180100 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Ravine Syndrome |
|
Decreased body weight, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the ... |
ORPHA:99852 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Decreased activity of m... |
OMIM:616811 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
| Central Areolar Choroidal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ... |
ORPHA:75377 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Parkinsonism, Microcephaly, Tremor, Inability to walk, Babinski sign, Scissor... |
OMIM:617013 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Periventricul... |
ORPHA:543470 |
| Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
| Retinal Cone Dystrophy 3B |
|
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:610356 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Dysplastic corpus callosum, Babinski sign, Spasti... |
OMIM:613162 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Nyctalopia, Decreased retinol-binding protein level, Reduced visual acuity, Tritanomaly, Visual i... |
OMIM:615147 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy... |
ORPHA:468661 |
| Retinal Capillary Malformation |
|
Myopia, Blindness, Photopsia, Vitreous floaters, Amblyopia, Reduced visual acuity, Paracentral sc... |
ORPHA:71213 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Impaired pain sensation, K... |
OMIM:618124 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Peripheral ... |
OMIM:619686 |
| Optic Atrophy 12 |
|
Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity |
OMIM:618977 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
| Retinitis Pigmentosa |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:268000 |
| Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac... |
ORPHA:59181 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Sp... |
OMIM:300055 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
| Leber Congenital Amaurosis 4 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:604393 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:617384 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Onion bulb formation, Facial palsy, Impaired pain sensation, Nemaline bodies... |
OMIM:607684 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... |
OMIM:619725 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Visual impairment |
OMIM:616335 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Lower limb muscle weakness, Peroneal muscle atrophy, Degeneration ... |
ORPHA:100989 |
| Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Abnormal putamen morphology... |
ORPHA:157846 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100999 |
| Corneal Dystrophy, Lattice Type Iiia |
|
Reduced visual acuity, Visual impairment |
OMIM:608471 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal senso... |
OMIM:613287 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
| Cone-Rod Dystrophy 13 |
|
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect |
OMIM:608194 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Cone-Rod Dystrophy 2 |
|
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... |
OMIM:120970 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy |
OMIM:162100 |
| Macular Degeneration, Early-Onset |
|
Reduced visual acuity |
OMIM:616118 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Impaired pain sensation, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:99948 |
| Retinitis Pigmentosa 62 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:614181 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, |
