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, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... |
OMIM:613954 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk, Optic atrophy, Abnormali... |
ORPHA:330050 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Central scotoma, Reduced visual acuity |
OMIM:136550 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171863 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Reduced visual acuity |
OMIM:165510 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atro... |
ORPHA:2254 |
Retinitis Pigmentosa 69 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615780 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Cone Dystrophy 4 |
|
Photophobia, Dyschromatopsia, Reduced visual acuity, Visual impairment |
OMIM:613093 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... |
OMIM:109150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Peroneal muscle atrophy, Thenar muscle atrophy, Degeneration of the latera... |
ORPHA:171617 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Cone Dystrophy 3 |
|
Photophobia, Reduced visual acuity, Progressive visual loss |
OMIM:602093 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ... |
OMIM:612577 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia,... |
ORPHA:48431 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Paresthesia, Fasciculations |
ORPHA:85162 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, Upper... |
ORPHA:139536 |
Stargardt Disease 4 |
|
Reduced visual acuity |
OMIM:603786 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... |
OMIM:620323 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Visual impairment |
OMIM:613758 |
Late-Onset Retinal Degeneration |
|
Visual loss, Adult-onset night blindness, Scotoma |
OMIM:605670 |
Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Parkinsonism |
OMIM:605543 |
Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617460 |
Retinitis Pigmentosa 76 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617123 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity |
OMIM:169150 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,... |
ORPHA:13 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Decreased number of peripheral myelinated nerve... |
OMIM:607250 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... |
ORPHA:139578 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... |
OMIM:312600 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, D... |
OMIM:608323 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... |
ORPHA:2589 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental peripheral demyelination/remye... |
OMIM:606483 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Distal sensory impairment... |
OMIM:601098 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:608161 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Fatty replacement of skeletal muscle, Impaired distal vibration sensatio... |
OMIM:618279 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve co... |
ORPHA:101075 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand... |
ORPHA:101085 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Upper mot... |
ORPHA:52430 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod... |
OMIM:601338 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Abnormal cerebellar pedu... |
ORPHA:98 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait... |
OMIM:620378 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Difficulty walking, Paralysis |
OMIM:608634 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment |
OMIM:601718 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness |
OMIM:608133 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration o... |
OMIM:607596 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Visual impairment |
OMIM:614180 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Somatic sen... |
OMIM:600882 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Blindness, Nyctalopia |
OMIM:180210 |
Usher Syndrome, Type Iid |
|
Nyctalopia |
OMIM:611383 |
Cone-Rod Dystrophy 5 |
|
Photophobia, Central scotoma, Reduced visual acuity, Color vision defect |
OMIM:600977 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ... |
ORPHA:228346 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Babinski sign, Ragged-r... |
OMIM:616924 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk... |
ORPHA:53351 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abn... |
OMIM:616479 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss |
OMIM:613862 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... |
ORPHA:363710 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ... |
ORPHA:99014 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Neuronal loss in ... |
OMIM:610245 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Myoclonus, Aprax... |
OMIM:221770 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Babinski sign, Hoffmann sign, Abnormal pyramidal sign, Dysmetria, Impaired distal vibrati... |
OMIM:618438 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Distal amyotrophy, Steppage ga... |
OMIM:610100 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno... |
ORPHA:309162 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Thenar muscle atrophy, Th... |
OMIM:270685 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Ce... |
ORPHA:276244 |
Retinitis Pigmentosa 81 |
|
Nyctalopia, Reduced visual acuity |
OMIM:617871 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity |
OMIM:613341 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision defect |
OMIM:616732 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Mitochondrial respiratory chain ... |
ORPHA:909 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Microcephaly, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Postural tremor, Rigidit... |
ORPHA:98808 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibra... |
OMIM:258450 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... |
OMIM:607225 |
Postencephalitic Parkinsonism |
|
Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Rigidity, ... |
ORPHA:97349 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Tremor, Gait dist... |
ORPHA:101078 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atro... |
OMIM:278800 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia,... |
OMIM:616719 |
Cataract 11, Multiple Types |
|
Blindness |
OMIM:610623 |
Achromatopsia 3 |
|
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... |
OMIM:262300 |
Achromatopsia 7 |
|
Photophobia, Central scotoma, Achromatopsia, Reduced visual acuity |
OMIM:616517 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Acute Peripheral Arterial Occlusion |
|
Paralysis, Leukocytosis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness |
ORPHA:90064 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... |
ORPHA:71277 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... |
OMIM:608030 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Inability to wal... |
OMIM:618184 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Blindness, Reduced visual acuity, Nyctalopia |
OMIM:204100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I... |
OMIM:616688 |
Retinitis Pigmentosa 70 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615922 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Spinal muscular atrophy, Lower limb muscle weakness, Fasciculations, Difficulty walking, Weakness... |
OMIM:615575 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Visual impairment |
OMIM:607921 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
Bothnia Retinal Dystrophy |
|
Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect... |
ORPHA:85128 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Cone-Rod Dystrophy And Hearing Loss 2 |
|
Photophobia, Reduced visual acuity |
OMIM:618358 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:606068 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... |
OMIM:608907 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... |
ORPHA:227510 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia... |
ORPHA:1020 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Macular Dystrophy With Central Cone Involvement |
|
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, High myopia, Visual impairment |
OMIM:616170 |
Retinitis Pigmentosa 90 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:619007 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... |
OMIM:606324 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Cone-Rod Dystrophy 20 |
|
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri... |
OMIM:615973 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma... |
OMIM:165500 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Visual impairment |
OMIM:613428 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Proximal muscle weakness in upper limbs, Babinski sign... |
ORPHA:496689 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B... |
ORPHA:98768 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakne... |
OMIM:620389 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dysplastic corpus callosum, Decreased activity of mitochondrial complex IV,... |
OMIM:614924 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... |
OMIM:600363 |
Retinal Cone Dystrophy 4 |
|
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment |
OMIM:610478 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Tremor, Dysmetria |
OMIM:615578 |
Leukodystrophy, Hypomyelinating, 14 |
|
Blindness |
OMIM:617899 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea... |
ORPHA:300605 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Gait disturbance |
OMIM:615683 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Adrenoleukodystrophy |
|
Limb ataxia, Impotence, Dementia, Hypogonadism, Neurodegeneration, Attention deficit hyperactivit... |
OMIM:300100 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Usher Syndrome Type 3 |
|
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... |
OMIM:270800 |
Retinitis Pigmentosa 33 |
|
Nyctalopia, Visual impairment |
OMIM:610359 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness |
OMIM:607674 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Microcephaly, Bradykinesia, Slowed slurred speech, Lissencephaly, Pachygyria |
OMIM:619827 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Decreased activity of mitochond... |
OMIM:618237 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Scoliosis, Loss o... |
OMIM:619518 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... |
ORPHA:276241 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Visual impairment, Nyctalopia |
OMIM:258870 |
Retinitis Pigmentosa 66 |
|
Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615233 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Distal sensory impairment, Fasciculations, Sensory axonal neuropathy, Fo... |
OMIM:137200 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171612 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Sensory ataxia, Distal sensory impairment, Calf muscle hypertrophy, Pare... |
ORPHA:101081 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... |
OMIM:612020 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Decreased number of ... |
OMIM:270550 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Difficulty walking |
ORPHA:171442 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop... |
OMIM:118300 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... |
ORPHA:79263 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Babinski sign, Flexion contracture, Spastic tetraplegia, Dysmetria, Progressi... |
OMIM:618404 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
Bothnia Retinal Dystrophy |
|
Nyctalopia |
OMIM:607475 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity... |
OMIM:613662 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Chronic axonal neuropathy, Impaired vibratory sensation, Lower limb spasticit... |
ORPHA:88644 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, ... |
OMIM:164400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Onion bulb formation, Distal sensory impairment, Upper limb muscle weakn... |
OMIM:615284 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss |
OMIM:614500 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness |
ORPHA:2787 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Kyphosis, Unsteady ... |
ORPHA:464282 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Myopia 22, Autosomal Dominant |
|
Reduced visual acuity, High myopia |
OMIM:615420 |
Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Reduced visual acuity, Progressive visual loss |
OMIM:204200 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur... |
ORPHA:240071 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Neuronal loss in central ner... |
ORPHA:683 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Gait disturban... |
ORPHA:412217 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Anterior beaking of lu... |
OMIM:230650 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls, Agenesis of cor... |
OMIM:616540 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibrillary tangles, ... |
OMIM:601104 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy, Tetraparesis, Failure to thriv... |
ORPHA:255182 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Akinesia, Neurofib... |
OMIM:609454 |
Leber Congenital Amaurosis 1 |
|
Photophobia, Blindness, Reduced visual acuity, Nyctalopia |
OMIM:204000 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we... |
OMIM:607791 |
Myopia 23, Autosomal Recessive |
|
Reduced visual acuity, Visual impairment, High myopia |
OMIM:615431 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... |
ORPHA:225147 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Hand muscle weakness, Abnormality of the foot musculature, ... |
ORPHA:100998 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Babinski sign, Abnorma... |
ORPHA:513436 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Ataxia, Dysmetria, Dysdiadochokinesis, ... |
OMIM:614487 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Reduced visual acuity |
OMIM:121820 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypogonadism, Abnormal autonomic nervo... |
ORPHA:97229 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Ataxia, Babinski sign, Lower limb amyotrophy, Distal sensory impairment, Steppage ... |
OMIM:617882 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Ba... |
ORPHA:100988 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Reduced visual acuity |
OMIM:613216 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Albinism, Oculocutaneous, Type Vi |
|
Photophobia, Reduced visual acuity, Visual impairment |
OMIM:113750 |
Ã…land Islands Eye Disease |
|
Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, Color vision defect |
ORPHA:178333 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Retinitis Pigmentosa 32 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:609913 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poo... |
OMIM:617695 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Nyctalopia, Reduced visual acuity |
OMIM:610156 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... |
OMIM:608340 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Cerebellar atrophy, Ataxia, Dysmetria |
OMIM:617917 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100993 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Ataxia, Spastic tetraplegia, Tetraparesis |
ORPHA:263410 |
Usher Syndrome, Type Iv |
|
Nyctalopia, Constriction of peripheral visual field, Ring scotoma |
OMIM:618144 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Atrophy/Degeneration aff... |
OMIM:617954 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... |
OMIM:613280 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking |
ORPHA:171439 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Gait ataxia, Hepatos... |
ORPHA:466794 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Choroideremia |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment |
OMIM:303100 |
Usher Syndrome Type 1 |
|
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231169 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti... |
OMIM:609541 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Upper limb a... |
ORPHA:99953 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Nanophthalmos 4 |
|
Reduced visual acuity, Hypermetropia |
OMIM:615972 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A... |
ORPHA:98759 |
Retinopathy Of Prematurity |
|
Blindness |
ORPHA:90050 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations |
OMIM:620007 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, S... |
ORPHA:100986 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... |
ORPHA:500180 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
Retinitis Pigmentosa |
|
Blindness, Photophobia, Hypogonadism, Progressive night blindness, Abnormal testis morphology, Vi... |
ORPHA:791 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T... |
OMIM:609285 |
Achromatopsia |
|
Myopia, Central scotoma, Monochromacy, Reduced visual acuity, Hypermetropia, Color vision test ab... |
ORPHA:49382 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Nyctalopia |
OMIM:179840 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotr... |
ORPHA:352447 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... |
ORPHA:391428 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity |
OMIM:611895 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the brainstem, Bab... |
ORPHA:445062 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Gait ataxia, Failure to th... |
OMIM:612075 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Nyctalopia, Constriction of peripheral visual field, Hypermetropia |
OMIM:267760 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp... |
ORPHA:320355 |
Bestrophinopathy, Autosomal Recessive |
|
Reduced visual acuity, Hypermetropia |
OMIM:611809 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Congenital blindness, Hypertriglyceridemia |
ORPHA:436182 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di... |
ORPHA:702 |
Chromosome Xq21 Deletion Syndrome |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss |
OMIM:303110 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... |
OMIM:617404 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Progressive cerebellar ataxia, Myoclo... |
OMIM:616640 |
Microphthalmia, Isolated 5 |
|
Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:611040 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Abnormal... |
ORPHA:313772 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Cone-Rod Dystrophy 18 |
|
Central scotoma, Reduced visual acuity, High myopia |
OMIM:615374 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Segmental peripheral demyelination/remyelination, Hypoesthesia, Vocal cord ... |
OMIM:162500 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy... |
ORPHA:33445 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... |
ORPHA:206448 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness |
OMIM:551500 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia |
OMIM:617916 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Peripheral axonal neuropathy, Inability to walk, Upper limb muscle w... |
ORPHA:99939 |
Night Blindness, Congenital Stationary, Type 2A |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment |
OMIM:300071 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Dyschromatopsia,... |
OMIM:612989 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Reduced visual acuity |
OMIM:613194 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:180104 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro... |
ORPHA:98771 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... |
ORPHA:319199 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria |
OMIM:618251 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Abnormal brainstem morphology, Impaired pain sensation |
ORPHA:1532 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha... |
ORPHA:99965 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:613861 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ... |
ORPHA:414 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Peripheral demyelination |
OMIM:616684 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con... |
OMIM:606612 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis, Lafora bodies |
ORPHA:324290 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, W... |
ORPHA:3208 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Progressive visual loss |
OMIM:256730 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
Retinitis Pigmentosa 93 |
|
Constriction of peripheral visual field, Reduced visual acuity |
OMIM:619845 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormal brainstem morphology, Ab... |
ORPHA:79279 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Gait distu... |
ORPHA:101006 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,... |
ORPHA:100996 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode... |
OMIM:245200 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Impaired distal proprioception, Impaired temperature sensation, Abnormal b... |
ORPHA:320365 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:312612 |
Retinitis Pigmentosa 40 |
|
Nyctalopia |
OMIM:613801 |
Retinitis Pigmentosa 96 |
|
Constriction of peripheral visual field, Reduced visual acuity |
OMIM:620228 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Abnormal pyramidal sign, Optic atrophy, Brain... |
OMIM:618228 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration... |
OMIM:157640 |
Retinitis Pigmentosa 51 |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment |
OMIM:613464 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Impa... |
ORPHA:352641 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:600105 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinsk... |
ORPHA:59 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Kyphoscoliosis, Impaired distal proprioception, Segmental peripheral demyelination/remyelination,... |
OMIM:601455 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness |
OMIM:271250 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impa... |
OMIM:616586 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy, Facial palsy |
OMIM:602541 |
Retinitis Pigmentosa 71 |
|
Nyctalopia |
OMIM:616394 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Central scotoma, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:300476 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, G... |
OMIM:610185 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Nyctalopia, Hypogonadism |
OMIM:615982 |
Chromosome 16Q12 Duplication Syndrome |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly |
OMIM:619649 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... |
OMIM:609033 |
Usher Syndrome, Type 1M |
|
Nyctalopia |
OMIM:618632 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, S... |
OMIM:248800 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Obesity, Spasticity, Global brain atrophy |
OMIM:619255 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques |
OMIM:605055 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:118220 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Pontocerebellar Hypoplasia Type 10 |
|
Spasticity, Hypertonia, Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel... |
ORPHA:254892 |
Leber Congenital Amaurosis 9 |
|
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:608553 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Optic Pathway Glioma |
|
Visual loss, Blindness, Reduced visual acuity, Visual field defect |
ORPHA:2086 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner... |
OMIM:257220 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Limb muscle weakness, Gait imbalance, Loss of a... |
ORPHA:329336 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Scapular winging, Facial palsy, Eosinophilia, Flexion contracture, Clumsiness, Proximal... |
OMIM:253600 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
Morm Syndrome |
|
Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab... |
ORPHA:139396 |
Retinitis Pigmentosa 88 |
|
Nyctalopia, Reduced visual acuity |
OMIM:618826 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Prolactinoma |
|
Bitemporal hemianopia, Blindness, Dyspareunia, Hypogonadotropic hypogonadism, Decreased female li... |
ORPHA:2965 |
Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis ... |
ORPHA:85278 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Optic atrophy, Progr... |
ORPHA:1177 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Photophobia, High hypermetropia, Reduced visual acuity |
OMIM:617879 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Nephronophthisis 15 |
|
Blindness |
OMIM:614845 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory... |
OMIM:612954 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, Cerebellar vermi... |
OMIM:213200 |
Cone-Rod Dystrophy 6 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... |
OMIM:601777 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon... |
ORPHA:298 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy |
ORPHA:2047 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis |
ORPHA:505652 |
Cog8-Cdg |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem... |
ORPHA:95428 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration |
OMIM:146500 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion contract... |
OMIM:616505 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie... |
OMIM:613983 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Visual impairment |
OMIM:613310 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera... |
OMIM:301830 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Corpus ... |
ORPHA:98673 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Exaggerated... |
ORPHA:320406 |
Retinitis Pigmentosa 49 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss |
OMIM:613756 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Neurodegeneration, Cognitive impairment |
ORPHA:309246 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma... |
OMIM:125250 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal sensory impairment, Gait disturbance, Periph... |
ORPHA:99944 |
Retinitis Pigmentosa 83 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters |
OMIM:618173 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... |
OMIM:617710 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro... |
OMIM:118200 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D... |
OMIM:615217 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy |
OMIM:203740 |
Retinitis Pigmentosa 84 |
|
Nyctalopia, Visual acuity no light perception |
OMIM:618220 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,... |
OMIM:210370 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Retinitis Pigmentosa 95 |
|
Constriction of peripheral visual field, Reduced visual acuity |
OMIM:620102 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Impaired distal proprioception, Decreased number of large peripheral mye... |
OMIM:162400 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea |
OMIM:603896 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity |
ORPHA:440727 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Flexion contracture... |
OMIM:275900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy, Steppage gait, Periphera... |
OMIM:607736 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spa... |
ORPHA:363722 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Reduced visual acuity, Secondary amenorrhea |
OMIM:617175 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Clonus, Reduced muscle fi... |
ORPHA:370959 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy,... |
OMIM:615084 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spinal cord les... |
ORPHA:401866 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Skeletal musc... |
ORPHA:101082 |
Atypical Rett Syndrome |
|
Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Bitemporal hemianopia, Blindness, Decreased female libido, Hypogona... |
ORPHA:91349 |
Cone-Rod Dystrophy 19 |
|
Reduced visual acuity, High myopia |
OMIM:615860 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N... |
OMIM:616239 |
Retinitis Pigmentosa 72 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia |
OMIM:616469 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor |
OMIM:117300 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity |
ORPHA:2429 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia |
OMIM:300076 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Senile plaques |
DECIPHER:48 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ... |
ORPHA:401815 |
Cataract 48 |
|
Reduced visual acuity, Amblyopia |
OMIM:618415 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Rigidity, Abnormal globus pallidus mor... |
ORPHA:309854 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Constriction of peripheral visual field, Blindness, Cryptorchidism, Nyctalopia, ... |
OMIM:300578 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage g... |
OMIM:302802 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Achilles tendon contracture, Babinski sign, Optic atrophy, Dysmetria,... |
OMIM:612674 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Cone-Rod Dystrophy 8 |
|
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia |
OMIM:605549 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy |
ORPHA:480 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Short neck, Inability to walk, Cerebral atrophy, Hyperton... |
OMIM:616801 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Clonus, Atrophy of the spinal cord, Babinski... |
OMIM:256840 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Inability to walk, Optic atrophy, Cerebral atrop... |
ORPHA:457205 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Narp Syndrome |
|
Abnormal visual field test, Blindness, Constriction of peripheral visual field |
ORPHA:644 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia |
OMIM:617162 |
Jalili Syndrome |
|
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment |
OMIM:217080 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Corneal Dystrophy, Meesmann, 1 |
|
Photophobia, Reduced visual acuity |
OMIM:122100 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Cryptorc... |
OMIM:214150 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Unsteady gait, Dist... |
ORPHA:600 |
Stargardt Disease |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
ORPHA:827 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Neuronal loss in ce... |
OMIM:600072 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... |
OMIM:304700 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Blindness, Constriction of peripheral visual field |
OMIM:617406 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemi... |
ORPHA:300573 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Parkinsonism |
OMIM:606688 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un... |
OMIM:614871 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Primary micr... |
ORPHA:778 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Postural tremor, Rigidity, Corpus call... |
ORPHA:412057 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance |
ORPHA:157973 |
Barth Syndrome |
|
Failure to thrive, Gait disturbance, Abnormal mitochondrial morphology |
OMIM:302060 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbance, ... |
ORPHA:216866 |
Joubert Syndrome 31 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Truncal ataxia |
OMIM:617761 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Rett Syndrome |
|
Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, Cerebral co... |
OMIM:312750 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang... |
OMIM:256700 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Opt... |
OMIM:617481 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Alpers-Huttenlocher Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:726 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp... |
OMIM:618476 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Hypoplasia of the pons, Optic atrophy, Spastic tetraplegia, Abnormality ... |
OMIM:619527 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Skeletal muscle atrophy, Ataxia, Gait disturbance |
OMIM:618239 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Fried Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Retinitis Pigmentosa 77 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617304 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Severe Canavan Disease |
|
Blindness |
ORPHA:314911 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus, Abnormal brainstem morphology |
ORPHA:2382 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis... |
ORPHA:79139 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Inability to walk... |
OMIM:128100 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Hypoplasia ... |
OMIM:605013 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dy... |
OMIM:617988 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Kyphosi... |
ORPHA:171629 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... |
ORPHA:228360 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia |
OMIM:274240 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, Hypoplasia of the br... |
OMIM:616420 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614831 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
X-Linked Immunoneurologic Disorder |
|
Nyctalopia |
ORPHA:2571 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Optic atrophy, Decreased b... |
ORPHA:477814 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Obes... |
ORPHA:3085 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Cryptorchidism, Kyphosis, Gait ataxia, Abdominal obesity, Hypogonadism, Decreased testicu... |
OMIM:300354 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Microcephaly, Unsteady... |
ORPHA:17 |
Irvan Syndrome |
|
Photophobia, Blurred vision, Reduced visual acuity, Vitreous floaters |
ORPHA:209943 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Corneal Dystrophy And Perceptive Deafness |
|
Reduced visual acuity |
OMIM:217400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Chorea, Impa... |
OMIM:606002 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overwei... |
ORPHA:2822 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Lymphopenia, Ataxia, Tremor, Gait disturbance, Spasticity, Failure to th... |
ORPHA:100 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Loss of ability to walk in early childhood, M... |
OMIM:612073 |
Cone-Rod Dystrophy 10 |
|
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss |
OMIM:610283 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Dementia, Neurodegeneration, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Superficial Siderosis |
|
Cerebellar atrophy, Back pain, Ataxia, Impaired temperature sensation, Impaired pain sensation, A... |
ORPHA:247245 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... |
ORPHA:306674 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,... |
OMIM:616827 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity |
OMIM:618323 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Usher Syndrome |
|
Myopia, Blindness, Nyctalopia, Decreased fertility, Visual field defect, Progressive visual loss,... |
ORPHA:886 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:616781 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast... |
OMIM:616795 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro... |
OMIM:615838 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal... |
OMIM:301900 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Decreased pyruvate ... |
OMIM:229300 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Retinitis Pigmentosa 14 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:600132 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100083 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Methanol Poisoning |
|
Hyperlipidemia, Blindness, Visual impairment, Blurred vision |
ORPHA:31825 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Senile plaques, Apraxia, Cerebral amyloid angiopathy |
OMIM:606889 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Mitochondrial swelling, Vocal cord paralysis |
ORPHA:397744 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata... |
OMIM:210000 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Lafora Disease |
|
Ataxia, Inability to walk, Lafora bodies, Gait disturbance, Myoclonus, Brain atrophy, Erratic myo... |
ORPHA:501 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Elevated circulating apolipoprotein B concentration, Elevated circulating apolipo... |
OMIM:144250 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:613617 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia, Horner syndrome |
OMIM:141300 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity |
ORPHA:2828 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia |
ORPHA:436274 |
Idiopathic Panuveitis |
|
Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ... |
ORPHA:280921 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Microcephaly, Mitochondrial swelling, Cerebral atrophy, Hy... |
OMIM:606812 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, M... |
ORPHA:442835 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Onion bulb formation, Peripheral axonal neuropathy, Tremor, Inability to... |
OMIM:218000 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic... |
OMIM:614678 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spastici... |
OMIM:607694 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, S... |
OMIM:211530 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Abnormal me... |
ORPHA:297 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Distal sensory impairment, Fac... |
OMIM:613559 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Failure to thrive, Babinski sign, Spastic paraplegia |
ORPHA:477673 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Ataxia, Head titubation, Abnormal brainstem morphology, Oculomotor apraxia, Elongated superior ce... |
ORPHA:370022 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... |
OMIM:270700 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Hypoplasia of the brains... |
ORPHA:481152 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... |
ORPHA:268882 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Reduced visual acuity |
OMIM:601813 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Visual impairment |
OMIM:600151 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Abnormality of mitochondrial metabolis... |
ORPHA:314404 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Skeletal muscle atrophy, Onion bulb formation, Optic neuropathy, Tibialis ... |
ORPHA:320375 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Limb muscle weakness, Distal sensory impairment, Distal amyotro... |
OMIM:601152 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Im... |
ORPHA:99949 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Peripheral visual field loss |
OMIM:617023 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98863 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment |
OMIM:300614 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cereb... |
OMIM:614969 |
Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Paresthesia, Muscular edema |
ORPHA:3165 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98853 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... |
OMIM:616867 |
Canavan Disease |
|
Blindness, Visual impairment |
ORPHA:141 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness |
OMIM:618225 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Kyphosis, Failure to thrive, Scoliosis |
OMIM:618234 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:255200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Somatic sensory... |
ORPHA:79093 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Joubert Syndrome 4 |
|
Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Thic... |
OMIM:609583 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Cryptorchidism, Kyphosis, Cerebral atrophy, Scoliosis |
OMIM:619797 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Gm1 Gangliosidosis |
|
Ataxia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Optic atrophy, Abnormal form of the verte... |
ORPHA:354 |
Retinitis Pigmentosa 10 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:180105 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy |
ORPHA:324737 |
Retinitis Pigmentosa 89 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:618955 |
Leber Congenital Amaurosis 15 |
|
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:613843 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Retinitis Pigmentosa 45 |
|
Nyctalopia, Peripheral visual field loss |
OMIM:613767 |
Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Spasticity, Ataxia, Cataplexy |
OMIM:607625 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ... |
OMIM:608931 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis |
OMIM:612300 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Myoclonic Epilepsy Of Lafora |
|
Apraxia, Gait disturbance, Myoclonus, Lafora bodies |
OMIM:254780 |
Lissencephaly 8 |
|
Appendicular spasticity, Skeletal muscle atrophy, Hypoplasia of the brainstem, Optic atrophy |
OMIM:617255 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H... |
OMIM:620089 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness |
ORPHA:77299 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness |
OMIM:250940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk... |
OMIM:300243 |
Osteoporosis-Pseudoglioma Syndrome |
|
Congenital blindness, Severely reduced visual acuity, Visual acuity light perception with project... |
ORPHA:2788 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Small for gestational age, Cryptorchidism, Kyphosis, Hypertonia, Scoliosis, Spast... |
ORPHA:352490 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Flexion contracture |
ORPHA:87876 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Gait ata... |
OMIM:616878 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens... |
ORPHA:99857 |
Peroxisome Biogenesis Disorder 9B |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:614879 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski... |
OMIM:617339 |
Vitreoretinochoroidopathy |
|
Blindness, Dyschromatopsia, Color vision defect, Nyctalopia |
OMIM:193220 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy |
OMIM:618244 |
Usher Syndrome Type 2 |
|
Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia |
ORPHA:231178 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Blindness |
ORPHA:171844 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Nyctalopia |
OMIM:616108 |
Tubulinopathy-Associated Dysgyria |
|
Oculomotor apraxia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
Albinism, Oculocutaneous, Type Vii |
|
Photophobia, High hypermetropia, Reduced visual acuity |
OMIM:615179 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu... |
ORPHA:254875 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ti... |
ORPHA:447760 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Inability to walk, ... |
OMIM:257200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Cachexia |
ORPHA:1933 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... |
OMIM:618443 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g... |
ORPHA:221098 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis, ... |
ORPHA:449285 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field |
OMIM:602772 |
Sarcosinemia |
|
Congenital blindness |
ORPHA:3129 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Inability to walk... |
ORPHA:2912 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... |
OMIM:200150 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Myopia, Nyctalopia |
ORPHA:1390 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Lower l... |
ORPHA:845 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, ... |
OMIM:619272 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity |
OMIM:617547 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy |
OMIM:614932 |
Cach Syndrome |
|
Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea |
ORPHA:135 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr... |
ORPHA:51188 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia, Kyphosis, Scoliosis |
ORPHA:2471 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Muscular dystroph... |
ORPHA:559 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Slurred speech, Abnormal form of t... |
ORPHA:812 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:612095 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Visual loss, Large central visual field defect, Blindness |
ORPHA:79264 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia |
OMIM:613612 |
Retinitis Pigmentosa 43 |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
OMIM:613810 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Facial palsy, Short neck, Kyphosis, Inability to walk, Scoliosis, Brain atrophy, Oculomotor aprax... |
OMIM:301041 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration |
OMIM:620210 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spastic dysarthria, ... |
ORPHA:95433 |
Acute Zonal Occult Outer Retinopathy |
|
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... |
ORPHA:284454 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Megalencephaly, Microcephaly, Hypoplasia of the pons, Perisylvian p... |
ORPHA:280195 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ata... |
OMIM:617193 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Irritability, Neurodegeneration |
OMIM:618321 |
Reticular Dysgenesis |
|
Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss |
ORPHA:33355 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:52368 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Retinitis Punctata Albescens |
|
Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot... |
ORPHA:52427 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:618512 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Caudate atrophy, Self-mutilation of tongue and lips... |
ORPHA:2388 |
Lead Poisoning |
|
Somatic sensory dysfunction, Decreased female libido, Abnormality of the menstrual cycle, Oligozo... |
ORPHA:330015 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Midline brainstem ... |
OMIM:617542 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... |
ORPHA:447788 |
Exudative Vitreoretinopathy 1 |
|
Blindness, Reduced visual acuity, Vitreous floaters |
OMIM:133780 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... |
ORPHA:2926 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Retinitis Pigmentosa 56 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:613581 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Inability to walk, Obesity, Hypogonadism,... |
OMIM:615547 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... |
ORPHA:94080 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Weight loss |
ORPHA:100024 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, G... |
OMIM:103050 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Neutropenia, Agene... |
ORPHA:506 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Elevated hemoglobin A1c, Babinski sign, Cerebral atrophy, Sensory ataxia, Gai... |
OMIM:616192 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness |
OMIM:598500 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Metatropic Dysplasia |
|
Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ... |
OMIM:156530 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Retinitis Pigmentosa 13 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:600059 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... |
ORPHA:280210 |
Familial Exudative Vitreoretinopathy |
|
Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters |
ORPHA:891 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Blindness |
ORPHA:1573 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Abnormal visual field test, Hypogonadotropic hypogonadism, Decr... |
ORPHA:91347 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness |
OMIM:236270 |
Achromatopsia 2 |
|
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia |
OMIM:216900 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal... |
OMIM:164310 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Bardet-Biedl Syndrome 20 |
|
Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hypermetropia, Hem... |
OMIM:619471 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Ataxia, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Cryptorchidism, Kyphosis, Gait disturbance, Scoliosis, Difficulty ... |
ORPHA:90322 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, Facial ... |
OMIM:618186 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Optic atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Joint contr... |
OMIM:615419 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Myelin outfoldings, Hand muscle weakness, Tremor, Inabil... |
ORPHA:99956 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Cataract 17, Multiple Types |
|
Reduced visual acuity, Amblyopia |
OMIM:611544 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis |
OMIM:615834 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurred sp... |
OMIM:256550 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculomotor apraxia, Molar tooth sign on... |
OMIM:611560 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:618484 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Facial diplegi... |
ORPHA:171436 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Nyctalopia |
ORPHA:79301 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Blindness |
OMIM:193235 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Canavan Disease |
|
Blindness, Visual impairment |
OMIM:271900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive |
ORPHA:536516 |
Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Nyctalopia, Reduced visual acuity |
OMIM:618195 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
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Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Cerebral atro... |
ORPHA:83629 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
L1 Syndrome |
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Skeletal muscle atrophy, Aqueductal stenosis, Hemiplegia/hemiparesis, Gait disturbance, Spasticity |
ORPHA:275543 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
X-Linked Creatine Transporter Deficiency |
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Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Attrv30M Amyloidosis |
|
Impotence, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Late-Onset Retinal Degeneration |
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Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a... |
ORPHA:67042 |
Keratoconus 9 |
|
Reduced visual acuity |
OMIM:617928 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Cryptorchidism, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis, Apraxia, Oculomot... |
OMIM:314580 |
Eales Disease |
|
Reduced visual acuity, Blindness, Photopsia, Vitreous floaters |
ORPHA:40923 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... |
ORPHA:206436 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Unsteady gait, Op... |
ORPHA:35069 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness |
ORPHA:3137 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Increased body weight, Weight loss, Clumsiness, Proximal muscle w... |
ORPHA:905 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Myopia, Nyctalopia, Visual loss |
ORPHA:5 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Spastic tetrapar... |
ORPHA:356961 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss, Lower limb muscle weakn... |
ORPHA:370348 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Gait disturbance |
OMIM:618578 |
Infantile Refsum Disease |
|
Nyctalopia, Constriction of peripheral visual field, Visual impairment |
ORPHA:772 |
Alstrom Syndrome |
|
Blindness, Hypertriglyceridemia, Constriction of peripheral visual field, Hypergonadotropic hypog... |
OMIM:203800 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive, Agenesis of corpus callosum |
OMIM:618603 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Short neck, Kyphosis, Failure to thrive, Global brain atrophy |
OMIM:608776 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Optic atro... |
ORPHA:500144 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm |
OMIM:612650 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis |
OMIM:612164 |
Isolated Atp Synthase Deficiency |
|
Blindness, Hypogonadism |
ORPHA:254913 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Tip-toe gait, Gait d... |
ORPHA:98855 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Visual loss, Myopia, Blindness, Reduced visual acuity |
ORPHA:168491 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Reduced visual acuity |
OMIM:618031 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Ataxia, Limb joint contracture, Spl... |
OMIM:301072 |
Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy |
ORPHA:79327 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Visual impairment |
ORPHA:53 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Waddling gait |
ORPHA:98896 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Kyphosis, Neurodegeneration, Cervical cord compression |
OMIM:309900 |
Late-Infantile/Juvenile Krabbe Disease |
|
Visual loss, Blindness, Visual impairment |
ORPHA:206443 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Progressive night blindness, Constriction of peripheral visual field, Progressive visual loss |
ORPHA:436245 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Small for gestational age, Cerebral atrophy,... |
OMIM:615471 |
Cinca Syndrome |
|
Blindness, Elevated circulating C-reactive protein concentration, Visual impairment |
ORPHA:1451 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Optic atrophy, Hypochromic microcytic anemia, Normochromic microcy... |
ORPHA:66634 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Spina bifida occulta, Gait disturbance |
ORPHA:2840 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Optic disc pallo... |
OMIM:615512 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyram... |
ORPHA:58 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness |
ORPHA:79243 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Wei... |
OMIM:619487 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Sideroblastic anemia, Rhabdomyolysis, Myopathy, Leukopenia, Increased in... |
OMIM:255125 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Involuntary movements, Hypoplasia of the pons, Hypoplastic anterior commissure, Hypoplasia of the... |
OMIM:618325 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Incoordination, Ataxia, Abnormal medulla oblongata morphology, Babi... |
OMIM:601992 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Hypogonadism, Scoliosis, Decre... |
ORPHA:85293 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Blindness |
OMIM:174800 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia |
ORPHA:31 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss |
ORPHA:767 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Spasticity, Temporal cortical atrophy |
OMIM:618862 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis |
OMIM:300280 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... |
OMIM:271225 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Harrod Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy |
ORPHA:2115 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Widening of cervical spinal canal |
OMIM:253310 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu... |
ORPHA:371364 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build |
OMIM:254090 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Retinitis Pigmentosa 86 |
|
Nyctalopia, Progressive visual loss |
OMIM:618613 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, ... |
ORPHA:496641 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cryptorchidism, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, Sl... |
ORPHA:364028 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensi... |
ORPHA:83597 |
Joubert Syndrome 35 |
|
Nyctalopia, Progressive visual loss |
OMIM:618161 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral... |
OMIM:620327 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... |
ORPHA:507 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Babinski sign, Cerebral atrophy, Hypertonia, Spasticity, Failure to thri... |
OMIM:615802 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Impaired vibratory sensation, Skeletal muscle atrophy, Babinski sign, Slurred spe... |
ORPHA:101000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
Cohen Syndrome |
|
Myopia, Nyctalopia, Reduced visual acuity, Visual impairment |
OMIM:216550 |
Xfe Progeroid Syndrome |
|
Blindness, Premature ovarian insufficiency, Hypoalbuminemia, Visual impairment |
OMIM:610965 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy |
OMIM:618291 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv... |
OMIM:253010 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Ataxia, Impaired temperature sensation, He... |
OMIM:268800 |
Trisomy 20P |
|
Incoordination, Spina bifida, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebra... |
ORPHA:261318 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness |
ORPHA:79107 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy |
OMIM:245400 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Refsum Disease |
|
Abnormality of vision, Nyctalopia, Progressive visual loss, Visual impairment |
ORPHA:773 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Gangliocytoma |
|
Abnormal brainstem morphology, Spinal cord tumor, Syringomyelia, Paresthesia, Ganglioneuroma |
ORPHA:251937 |
Abetalipoproteinemia |
|
Blindness, Scotoma, Nyctalopia, Hypoalbuminemia, Progressive visual loss, Abnormal circulating ap... |
ORPHA:14 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Obesity, Scoliosis |
OMIM:618493 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, High myopia |
OMIM:220500 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight... |
ORPHA:79102 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia |
ORPHA:371 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Poems Syndrome |
|
Papilledema, Weight loss, Paresthesia, Hypogonadism, Hyperesthesia, Erectile dysfunction, Sclerot... |
ORPHA:2905 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Decreased activity of mi... |
OMIM:620351 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Hypermetropia, Visual impairment |
OMIM:614378 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Hypogonadis... |
ORPHA:261349 |
X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive sp... |
ORPHA:85323 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Nyctalopia, High myopia |
OMIM:617763 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Abnormality of neutrophils, Abnormal brainstem morphology, Hypertonia, Hypochromic anemia |
ORPHA:2720 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Cryptorchidism, Kyphosis, Cerebral atrophy, Scoliosis, Failure to thrive |
OMIM:609029 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness |
OMIM:560000 |
Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brainstem, Oculomotor apraxia... |
OMIM:608091 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc... |
OMIM:300966 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness |
ORPHA:3078 |
Kennedy Disease |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:481 |
Majeed Syndrome |
|
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Hypochr... |
ORPHA:77297 |
Plasminogen Deficiency, Type I |
|
Blindness, Decreased level of plasminogen |
OMIM:217090 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Intention tremor |
OMIM:619708 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Blindness |
ORPHA:713 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, Abnormalit... |
ORPHA:1328 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Urban-Rogers-Meyer Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism |
ORPHA:3409 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Decreased testicular size |
OMIM:615433 |
Spinocerebellar Ataxia Type 7 |
|
Blindness, Visual loss, Reduced visual acuity, Photophobia, Hemeralopia |
ORPHA:94147 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Eosinophilic Granulomatosis With Polyangiitis |
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Myositis, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration,... |
ORPHA:183 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Melorheostosis |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:2485 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Blindness |
OMIM:601499 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Failure to thrive |
ORPHA:94065 |
Tay-Sachs Disease |
|
Blindness |
OMIM:272800 |
Amyotrophic Dystonic Paraplegia |
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Skeletal muscle atrophy, Spastic paraplegia |
OMIM:105300 |
Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive, Short neck |
ORPHA:1842 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Waddling gait, Knee flexion contracture |
OMIM:606631 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
Micro Syndrome |
|
Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy |
ORPHA:2510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Hypergonadotropic hypogonadism, Trem... |
OMIM:212065 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Myopia, Nyctalopia, Blurred vision, Reduced visual acuity, Peripheral visual field loss, Photopho... |
ORPHA:364055 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Enhanced S-Cone Syndrome |
|
Hemeralopia, Nyctalopia |
OMIM:268100 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction |
OMIM:612079 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Ataxia, Brainstem dysplasia, Optic disc coloboma, Macrogloss... |
OMIM:213300 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Hepatosplenomegal... |
ORPHA:367 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:1806 |
Diastrophic Dysplasia |
|
Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... |
ORPHA:628 |
Granular Corneal Dystrophy Type Ii |
|
Reduced visual acuity, Visual impairment, Blurred vision |
ORPHA:98963 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Syringomyelia, Failure to thrive |
ORPHA:94063 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Lateral Meningocele Syndrome |
|
Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Dural... |
ORPHA:2789 |
Senior-Loken Syndrome 3 |
|
Visual loss, Congenital blindness |
OMIM:606995 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Weight loss, Hemiparesis, Abnormal skeletal muscle morpholog... |
ORPHA:284 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness |
OMIM:603387 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax... |
OMIM:619475 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Weight loss, Neutropenia, Failure to thr... |
ORPHA:47 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Visual impairment |
OMIM:259700 |
Giant Cell Arteritis |
|
Optic atrophy, Paresthesia, Ataxia, Weight loss |
ORPHA:397 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Blindness, Amblyopia, Cryptorchidism, Visual loss, Hypogonadism |
ORPHA:2250 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Blindness, Visual impairment |
ORPHA:1187 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Hermansky-Pudlak Syndrome 1 |
|
Photophobia, Severely reduced visual acuity, Blindness |
OMIM:203300 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Nyctalopia, Visual field defect, Elevated circulating creatine kinase concentration, Hypocholeste... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Splenomegaly, Skeletal muscle atrophy, Hepatosplenomegaly |
OMIM:616828 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida... |
OMIM:617527 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,... |
OMIM:230500 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Coffin-Lowry Syndrome |
|
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco... |
ORPHA:192 |
Pituitary Dermoid And Epidermoid Cysts |
|
Diplopia, Reduced visual acuity, Oligozoospermia, Sudden loss of visual acuity, Oligomenorrhea, H... |
ORPHA:91351 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:180870 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Visual impairment |
ORPHA:2318 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa... |
ORPHA:70 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Rhabdomyolysis, Paresthesia, Failure to thrive |
OMIM:263800 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking |
ORPHA:98895 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Kyphosis, Hypogonadism, Gait disturbance, Scoliosis, Failure to thrive |
ORPHA:500055 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology |
ORPHA:163961 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Cryptorchidism, Kyphosis, Abnormal form of t... |
ORPHA:2311 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Unsteady ... |
ORPHA:637 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Leukocytosis, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity |
ORPHA:134 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Ina... |
ORPHA:258 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ... |
OMIM:607014 |
Stickler Syndrome, Type I |
|
Myopia, Blindness |
OMIM:108300 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cryptorchidism, Gait disturbance, ... |
ORPHA:191 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Cryptorchidism, Oligozoospermia, Azoospermia, Congenital statio... |
ORPHA:8 |
Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, ... |
ORPHA:333 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Optic atrophy, Calf m... |
OMIM:253800 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Nyctalopia, Peripheral visual field loss, Visual field defect, Visual impairment |
ORPHA:157850 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Dec... |
ORPHA:98915 |
Trisomy 13 |
|
Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis |
ORPHA:3378 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Babinski sign, Flexion contracture, Tetraparesis |
OMIM:300232 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,... |
OMIM:216400 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps... |
OMIM:255800 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weight loss, Distal ... |
OMIM:603041 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Reduced visual acuity, Hypermetropia |
OMIM:618283 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Infertility, Weight loss |
OMIM:212750 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Cryptorchidism, Kyphosis, Cerebral atrophy |
OMIM:619244 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness |
OMIM:259710 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Tethered cord, Short neck, Cryptorchidism, Kyphosis, Dural ectasia, Syringomyel... |
OMIM:130720 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia |
OMIM:615630 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Broad-based gait, Contractures of the large joints |
OMIM:616716 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Scoliosis, C... |
OMIM:617011 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive |
ORPHA:99885 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Whipple Disease |
|
Myositis, Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Myoclonus, Anemia |
ORPHA:3452 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Leukocytosis, Weight loss, Leukopenia, Myoclonus, Thrombocytosis, Sp... |
ORPHA:20 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbra... |
ORPHA:68 |
Edict Syndrome |
|
Reduced visual acuity, Visual impairment |
OMIM:614303 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Hepatosplenomegaly |
OMIM:232500 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa... |
ORPHA:144 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia... |
ORPHA:521426 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Optic atrophy, Ataxia |
ORPHA:220295 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Short neck |
ORPHA:1438 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy |
OMIM:614300 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck |
ORPHA:2983 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Steppage gait, ... |
ORPHA:168563 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Small for gestational age, Cryptorchidism, Kyphosis, Gait disturbance, Scolios... |
ORPHA:464311 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Cancer-Associated Retinopathy |
|
Constriction of peripheral visual field, Photopsia, Testicular neoplasm, Visual loss, Central sco... |
ORPHA:71505 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis |
ORPHA:1545 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness |
OMIM:617914 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... |
ORPHA:1344 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Obesity, Scoliosis, Short neck |
ORPHA:3191 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Felty Syndrome |
|
Splenomegaly, Weight loss, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte ... |
ORPHA:47612 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness |
ORPHA:853 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa... |
ORPHA:440437 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Optic Nerve Hypoplasia, Bilateral |
|
Reduced visual acuity, Visual impairment |
OMIM:165550 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Myopathy |
ORPHA:85329 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Tethered cord, Ataxia, Cryptorchidism, Kyphosis, Optic atrophy, Abnormal form of t... |
ORPHA:280 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr... |
ORPHA:90045 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Momo Syndrome |
|
Blindness |
OMIM:157980 |
Joubert Syndrome 6 |
|
Blindness |
OMIM:610688 |
White-Sutton Syndrome |
|
Myopia, Blindness, Hypermetropia, Visual impairment |
ORPHA:468678 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Nyctalopia, Visual field defect |
ORPHA:166035 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Small for gestational age, Abnormal auditory evoked pote... |
OMIM:133540 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Myopia, Nyctalopia, Ring scotoma |
OMIM:616959 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, An... |
OMIM:615934 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Abnormal brainstem morphology |
ORPHA:231160 |
Polymyositis |
|
Weight loss, Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy... |
ORPHA:465508 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Failure to thrive, Optic nerve hypoplasia, Kyphoscoliosis, Bilateral cryptorc... |
OMIM:602535 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Webb-Dattani Syndrome |
|
Cryptorchidism, Blindness |
OMIM:615926 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Impaired pain sensation, Cryptorchid... |
OMIM:176270 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Refsum Disease, Classic |
|
Nyctalopia |
OMIM:266500 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Pancytopenia, Spastic tetraparesis, ... |
OMIM:615846 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia |
ORPHA:2821 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Splenom... |
OMIM:252010 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss |
ORPHA:324964 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness |
OMIM:608688 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thro... |
ORPHA:2072 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:230839 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Small for gestational age, Cryptorchidism, Kyphosis, Gait disturbance, Scolios... |
ORPHA:464306 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm |
ORPHA:97289 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Abnormal brainstem MRI signal intensity, Failure to thrive, Right v... |
ORPHA:444013 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Meningioma |
|
Bitemporal hemianopia, Decreased circulating cortisol level, Blindness, Hypogonadotropic hypogona... |
ORPHA:2495 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Cryptorchidism, Kyphosis, Increased body weight, Primary amenorrh... |
ORPHA:398069 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... |
OMIM:605373 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Short neck |
ORPHA:3082 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Lowry-Wood Syndrome |
|
Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Hydrocele testis, Syringomyelia, Scoliosis |
ORPHA:314588 |
Sturge-Weber Syndrome |
|
Abnormality of vision, Blindness, Hemianopia |
ORPHA:3205 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive |
ORPHA:476126 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Male hypogonadism, Kyphosis, Scoliosis |
OMIM:615381 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... |
OMIM:617799 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Obesity, Scoliosis |
ORPHA:254346 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell... |
ORPHA:361 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Failure to thrive |
OMIM:169400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, Difficult... |
ORPHA:457359 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy |
ORPHA:156 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture |
ORPHA:435638 |
Momo Syndrome |
|
Blindness |
ORPHA:2563 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Kyphosis, Pain insensitivity, Scoliosis |
OMIM:617061 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Scoliosis, Decreased testicular ... |
ORPHA:813 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Ab... |
ORPHA:800 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Optic disc coloboma, Weight loss |
ORPHA:92050 |
Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Facial palsy, Scoliosis |
OMIM:617143 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Spasticity, Scoliosis, Cerebral atrophy |
OMIM:616449 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Oculomotor apraxia, Arthrogryposis ... |
OMIM:617822 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis, Spasticity |
OMIM:301040 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Blindness, Red-green dyschromatopsia, Central scotoma, Reduced visual acuity, Tritanomaly, Visual... |
ORPHA:67036 |
Cystic Echinococcosis |
|
Abscess, Eosinophilia, Weight loss, Splenic cyst, Abnormality of the diaphragm, Peritoneal abscess |
ORPHA:400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Myopia, Blindness, Elevated circulating creatine kinase concentration, Cryptorchidism |
OMIM:236670 |
Multiple Myeloma |
|
Spinal cord compression, Vertebral compression fracture, Paresthesia, Weight loss |
ORPHA:29073 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Blindness |
OMIM:148210 |
3C Syndrome |
|
Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis |
ORPHA:7 |
Cogan Syndrome |
|
Photophobia, Blindness, Reduced visual acuity |
ORPHA:1467 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Kyphosis, Cerebral atrophy, Difficulty walking, Scoliosis, Spasticity |
ORPHA:464738 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, L... |
ORPHA:99867 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4... |
ORPHA:90362 |
Cronkhite-Canada Syndrome |
|
Anemia, Splenomegaly, Cachexia |
ORPHA:2930 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon, Obesity |
ORPHA:261222 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Weight loss, Obesity, Short neck |
ORPHA:251071 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Cryptorchidism |
ORPHA:847 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology, Abnormality of masseter muscle, Decreased bo... |
ORPHA:314621 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Microphthalmia, Lenz Type |
|
Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc coloboma, Scoliosis |
ORPHA:568 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi... |
OMIM:256810 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma... |
ORPHA:85450 |
Cohen Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Optic atrophy, Obesity, Scoliosis |
ORPHA:193 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... |
ORPHA:349 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Bone marrow hypocellularity, O... |
OMIM:131300 |
Persistent Hyperplastic Primary Vitreous |
|
Blindness, Reduced visual acuity, Amblyopia |
ORPHA:91495 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Asparagine Synthetase Deficiency |
|
Blindness, Cerebral visual impairment |
OMIM:615574 |
Trisomy 17P |
|
Macroglossia, Skeletal muscle atrophy, Hypertonia, Flexion contracture |
ORPHA:261290 |
Wolman Disease |
|
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia |
ORPHA:54251 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination |
ORPHA:420741 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle... |
ORPHA:2020 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss |
ORPHA:1332 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve... |
ORPHA:90793 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity |
ORPHA:127 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... |
ORPHA:268261 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Cerebral palsy, Opisthotonus |
OMIM:210210 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Hypogonadism, Decreased ... |
OMIM:209900 |
Aredyld Syndrome |
|
Cachexia, Scoliosis |
ORPHA:1133 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness |
OMIM:158310 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:404440 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Cerebral cortical atrophy, Weight loss |
ORPHA:37 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scolios... |
ORPHA:251014 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Kyphosis, Optic nerve hypoplasia, Scoliosis |
ORPHA:261250 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skel... |
ORPHA:899 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h... |
OMIM:614162 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Paresthesia, Thr... |
ORPHA:71493 |
Listeriosis |
|
Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Abnormal brai... |
ORPHA:533 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis |
ORPHA:2616 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, S... |
OMIM:162300 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Marden-Walker Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
Corneodermatoosseous Syndrome |
|
Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Cataract 49 |
|
Reduced visual acuity |
OMIM:619593 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Paresthesia, Cachexia |
OMIM:175500 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Unsteady gait, Scoliosis, Brain atroph... |
ORPHA:90324 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Cryptorchidism, Abnormal spinal cord morphology, Kyphosis, Spinal canal stenosi... |
ORPHA:1724 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia |
ORPHA:581 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:217346 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Cryptorchidism, Kyphosis, Scoliosis, ... |
OMIM:610443 |
Gm1 Gangliosidosis Type 1 |
|
Blindness |
ORPHA:79255 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Splenomegaly, Cerebral atrophy, Failure to thrive |
OMIM:608779 |
Weill-Marchesani Syndrome 1 |
|
Blindness, High myopia |
OMIM:277600 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Aplasia/Hypoplasia of the ab... |
ORPHA:2990 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Rhabdomyosarcoma, T lymphocytopenia, B lymphocytopenia, Neurodegener... |
OMIM:251260 |
Cystinosis, Nephropathic |
|
Male infertility, Blindness, Reduced visual acuity, Photophobia, Male hypogonadism, Visual impair... |
OMIM:219800 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision |
ORPHA:2526 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc... |
ORPHA:26791 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weight |
OMIM:616200 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Hypertonia, Focal T2 hyperint... |
ORPHA:255210 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Weight loss, Abnormal autonomic nervous syste... |
ORPHA:71273 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive |
ORPHA:420794 |
Cryptococcosis |
|
Abnormality of vision, Blindness, Prostatitis |
ORPHA:1546 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Splenomegaly, Rhabdomyolysis, Increased bod... |
ORPHA:79240 |
Dysosteosclerosis |
|
Blindness |
OMIM:224300 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of... |
ORPHA:444072 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compr... |
OMIM:219090 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Thrombocytopenia, Hemiparesis, Decerebrate rigidity, Anemia |
ORPHA:319251 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Cryptorchidism, Kyphosis, Scoliosis, Decreased body weight |
OMIM:619005 |
Mgat2-Cdg |
|
Kyphosis, Failure to thrive, Scoliosis, Brain atrophy |
ORPHA:79329 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp... |
ORPHA:763 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:96169 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Hepatosplenomegaly, Hemophagocytosis, F... |
ORPHA:39812 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Decreased body weight |
OMIM:614856 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture |
OMIM:619183 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Sacral dimple, Small for gestational age, Testicular neoplasm, Spina bifida, Hype... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Sacral dimple, Small for gestational age, Testicular neoplasm, Spina bifida, Hype... |
ORPHA:363958 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Fused cervical vertebrae, Gait dis... |
OMIM:265000 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Weight loss |
ORPHA:35687 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100085 |
Donohue Syndrome |
|
Severe failure to thrive, Skeletal muscle atrophy |
OMIM:246200 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss |
ORPHA:188 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis |
OMIM:617602 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Failure to thrive, Scoliosis, Tip-toe gait |
OMIM:618050 |
Weaver Syndrome |
|
Cryptorchidism, Kyphosis, Slurred speech, Hydrocele testis, Poor fine motor coordination, Hyperto... |
OMIM:277590 |
Bronchial Neuroendocrine Tumor |
|
Weight loss, Pulmonary carcinoid tumor |
ORPHA:97287 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple... |
ORPHA:264580 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Kyphoscoliosis, Cryptorchidism, Kyphosis, Unsteady gait, Inability to walk... |
ORPHA:3063 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Saul-Wilson Syndrome |
|
Nyctalopia |
OMIM:618150 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss |
OMIM:250410 |
Behçet Disease |
|
Ataxia, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait disturbance |
ORPHA:117 |
Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Chronic lymphatic leukemia, Spontaneous pain sensation |
ORPHA:91139 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness |
OMIM:612199 |
Norrie Disease |
|
Blindness |
OMIM:310600 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Constriction of peripheral visual field, Hypertriglyceridemia, Primary amenorrhea, Nyctalopia |
OMIM:619418 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Art... |
ORPHA:2671 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Brucellosis |
|
Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytopenia, Chorea, ... |
ORPHA:1304 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Al Amyloidosis |
|
Macroglossia, Howell-Jolly bodies, Anemia, Weight loss |
ORPHA:85443 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619951 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence |
ORPHA:49041 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo... |
ORPHA:37042 |
Isolated Complex I Deficiency |
|
Blindness |
ORPHA:2609 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Cryptorchidism, Kyphosis, Scoliosis, Slender build |
OMIM:300967 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Cerebral atrophy |
OMIM:618252 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vert... |
ORPHA:666 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Weight loss, Failure to thrive |
ORPHA:199299 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis, Brain stem compression |
OMIM:602080 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm... |
ORPHA:220386 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Obesity |
ORPHA:110 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm... |
ORPHA:93924 |
Solitary Fibrous Tumor |
|
Low back pain, Weight loss |
ORPHA:2126 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Cryptorchidism, Weight loss, Azoospermia, Decreased fertilit... |
ORPHA:84 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Cryptorchidism... |
ORPHA:536532 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... |
ORPHA:3042 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:2215 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Failure to thrive, Anemia |
OMIM:615895 |
Mucolipidosis Type Ii |
|
Inability to walk, Kyphosis, Weight loss |
ORPHA:576 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Anemia, Thrombocytopenia |
OMIM:619743 |
Pyomyositis |
|
Leukocytosis, Recurrent cutaneous abscess formation, Myositis, Weight loss |
ORPHA:764 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Truncal obesity |
OMIM:219080 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Diastasis recti, Inability to walk, Macroglossia, Global brain atrophy |
ORPHA:488632 |
Arima Syndrome |
|
Ataxia, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar tooth sign on MRI,... |
OMIM:243910 |
Neuroendocrine Tumor Of Stomach |
|
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100075 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
Primrose Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Kyphosis, Irreg... |
OMIM:259050 |
Pierson Syndrome |
|
Blindness, Hypoproteinemia, High myopia |
OMIM:609049 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:2075 |
Cowden Syndrome 1 |
|
Hydrocele testis, Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
Gitelman Syndrome |
|
Paralysis, Rhabdomyolysis, Iron deficiency anemia, Paresthesia, Failure to thrive |
ORPHA:358 |
Weill-Marchesani Syndrome 2 |
|
Blindness, High myopia |
OMIM:608328 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Spina bifida, Hypertonia |
ORPHA:3380 |
Spondyloenchondrodysplasia |
|
Kyphosis, Chorea, Platyspondyly, Spasticity |
ORPHA:1855 |
Mucopolysaccharidosis, Type Iiid |
|
Nyctalopia, Visual impairment |
OMIM:252940 |
1P36 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Obesity, ... |
ORPHA:1606 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... |
ORPHA:2232 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Thrombocytopeni... |
ORPHA:3260 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Hydranencephaly |
|
Abnormality of vision, Blindness |
ORPHA:2177 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation |
OMIM:616482 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr... |
OMIM:259730 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Leprosy |
|
Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, A... |
ORPHA:548 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Thrombocytopenia, Anemia |
OMIM:620370 |
Noonan Syndrome 14 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:619745 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutropenia, Anemia |
ORPHA:50918 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Myopia, Blindness |
OMIM:225400 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Werner Syndrome |
|
Skeletal muscle atrophy, Slender build |
ORPHA:902 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Failure to thrive, Paralysis |
ORPHA:18 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Kyphosis, Pheochromocytoma, Paresthesia, Plexiform neurofibroma, Scoliosi... |
ORPHA:636 |
Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Decreased male libido, Amenorr... |
ORPHA:652 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Anemia |
ORPHA:89842 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Myositis, Abnormal spinal cord morphology, Chorea... |
ORPHA:289390 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, H... |
ORPHA:284339 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Blindness, Elevated circulating creatine kinase concentration |
OMIM:615287 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Visual loss, Blindness, Abnormal testis morphology, Amblyopia |
ORPHA:2556 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Dural ectasia |
OMIM:616914 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemophagocy... |
OMIM:222700 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Weight loss, Hepatosplen... |
ORPHA:275761 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight... |
ORPHA:2298 |
Aspartylglucosaminuria |
|
Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, ... |
OMIM:208400 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Williams Syndrome |
|
Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bi... |
ORPHA:904 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormality of the tongue muscle, Inabilit... |
ORPHA:273 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Generalized amyotr... |
ORPHA:171 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Rhabdomyosarcom... |
ORPHA:647 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Native American Myopathy |
|
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... |
ORPHA:168572 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity, Secondary amenorrhea |
OMIM:610489 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Small for gestational age, Poor coordination, Flexion contracture, Spast... |
OMIM:309590 |
Microsporidiosis |
|
Brain abscess, Myositis, Cachexia, Abnormality of the spleen, Weight loss, Decreased proportion o... |
ORPHA:2552 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Weight loss |
ORPHA:93672 |
Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Failure to thrive, ... |
ORPHA:401973 |
Q Fever |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia |
ORPHA:781 |
Xq21 Microdeletion Syndrome |
|
Progressive night blindness, Visual acuity test abnormality, Reduced visual acuity, Peripheral vi... |
ORPHA:1435 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Polycythemia Vera |
|
Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Addison Disease |
|
Orthostatic hypotension, Primary testicular failure, Premature ovarian insufficiency, Decreased f... |
ORPHA:85138 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Failure to thrive, Decreased female libido, Weight loss |
ORPHA:95409 |
Osteoporosis-Pseudoglioma Syndrome |
|
Congenital blindness, Blindness |
OMIM:259770 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic endocrine tumor, Leukocytosis, Increased body weight, Weight loss, Proximal amyotrophy... |
ORPHA:99889 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis |
OMIM:607015 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte... |
ORPHA:955 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Optic atrophy, Hypertonia, Scoliosis, Erectile dysfunction, Fai... |
ORPHA:649 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... |
ORPHA:2461 |
Classic Homocystinuria |
|
Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis |
ORPHA:394 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... |
OMIM:143095 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Liver abscess, Weight loss |
ORPHA:53035 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia, Weight loss |
ORPHA:537 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Joubert Syndrome 5 |
|
Congenital blindness, Reduced visual acuity |
OMIM:610188 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss |
ORPHA:36426 |
Ramon Syndrome |
|
Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Renpenning Syndrome 1 |
|
Blindness, Decreased testicular size, Hypermetropia |
OMIM:309500 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:616894 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss |
ORPHA:160 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Kyphosis, Subcortical cerebral atrophy, Abnormality of the... |
ORPHA:2273 |
Marfan Syndrome |
|
Cachexia, Kyphosis, Dural ectasia, Scoliosis, Slender build, Spondylolisthesis |
ORPHA:558 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Tyrosinemia, Type I |
|
Splenomegaly, Failure to thrive, Anemia, Periodic paralysis |
OMIM:276700 |
Congenital Erythropoietic Porphyria |
|
Blindness, Reduced haptoglobin level |
ORPHA:79277 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Short neck, Cryptorchidism, Kyphosis, Optic atrophy, Abnormal form of the ... |
ORPHA:818 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Flexion contracture, Anemia, Weight loss |
ORPHA:85408 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619718 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Rat-Bite Fever |
|
Anemia, Tendonitis, Weight loss |
ORPHA:31205 |
Mend Syndrome |
|
Sacral dimple, Cryptorchidism, Kyphosis, Hypertonia, Failure to thrive |
OMIM:300960 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive |
OMIM:239000 |
Cowden Syndrome |
|
Kyphosis, Failure to thrive, Ataxia, Scoliosis |
ORPHA:201 |
Duane Retraction Syndrome |
|
Blepharospasm, Skeletal muscle atrophy, Spina bifida occulta, Camptodactyly |
ORPHA:233 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... |
ORPHA:570 |
Zttk Syndrome |
|
Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity, Failure to thrive |
OMIM:617140 |
Stickler Syndrome |
|
Myopia, Blindness, Visual impairment |
ORPHA:828 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis |
ORPHA:2658 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:619123 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Cryptorchidism, Kyphosis, Hypertonia, Scoliosis |
OMIM:619194 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Weight loss |
ORPHA:79430 |
Fraser Syndrome 1 |
|
Cryptorchidism, Blindness |
OMIM:219000 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Hepatoerythropoietic Porphyria |
|
Blindness |
ORPHA:95159 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... |
OMIM:601701 |
Hyper-Igd Syndrome |
|
Nyctalopia |
OMIM:260920 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Tethered cord, Small for gestational age, Cryptorchidism, Kyphos... |
OMIM:194190 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Testicular adrenal rest tumor,... |
ORPHA:90794 |
Seckel Syndrome |
|
Cachexia, Scoliosis |
ORPHA:808 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Weight loss, Abnormality of the extraocular muscles, Optic nerve compression, Thrombocy... |
ORPHA:79078 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Abnormal central motor function, Kyphosis, Schwannoma, Glomus jugular ... |
ORPHA:97685 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Zollinger-Ellison Syndrome |
|
Weight loss, Neuroendocrine neoplasm, Glucagonoma |
ORPHA:913 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Small intestine carcinoid, Weight loss |
ORPHA:100078 |
Familial Pancreatic Carcinoma |
|
Back pain, Weight loss |
ORPHA:1333 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Large for gestational age, Short neck |
ORPHA:77301 |
Granulomatosis With Polyangiitis |
|
Hemiplegia, Granulomatosis, Weight loss |
ORPHA:900 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... |
OMIM:255995 |
Poland Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Sp... |
ORPHA:2911 |
Somatomammotropinoma |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp... |
ORPHA:314769 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
ORPHA:217085 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Menke-Hennekam Syndrome 1 |
|
Cryptorchidism, Blindness, Hypermetropia |
OMIM:618332 |
Grfoma |
|
Pheochromocytoma, Intestinal carcinoid, Weight loss |
ORPHA:97261 |
Dermatomyositis |
|
Inflammatory myopathy, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Mucopolysaccharidosis Type 2 |
|
Large central visual field defect, Peripheral visual field loss, Nyctalopia |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
ORPHA:217093 |
Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Cryptorchidism, Kyphosis, Azoospermia, Platyspondyly, Scoliosis, Failure to thrive |
ORPHA:534 |
Postinfectious Vasculitis |
|
Orchitis, Abnormality of the peripheral nervous system, Weight loss |
ORPHA:48435 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
Vipoma |
|
Ganglioneuroma, Weight loss |
ORPHA:97282 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:619482 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
Acromegaly |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp... |
ORPHA:963 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Nyctalopia, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Renal Cysts And Diabetes Syndrome |
|
Cerebral cortical atrophy, Reduced sperm motility |
OMIM:137920 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Microcytic anemia, Splenomeg... |
OMIM:256040 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Cryptorchidism, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta |
OMIM:135900 |
Fraser Syndrome |
|
Cryptorchidism, Blindness |
ORPHA:2052 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Weight loss, Shuffling gait, Severe failure to thrive, Delayed menarche |
ORPHA:740 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Photophobia, Visual loss, Blindness |
ORPHA:95455 |
Sarcoidosis |
|
Hemolytic anemia, Facial palsy, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight lo... |
ORPHA:797 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness, Female hypogonadism, Cryptorchidism |
OMIM:607932 |
Parathyroid Carcinoma |
|
Testicular neoplasm, Weight loss |
ORPHA:143 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Weight loss |
OMIM:181000 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Decreased circulating carnitine concentration |
ORPHA:3337 |
Dpagt1-Cdg |
|
Nyctalopia |
ORPHA:86309 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Glucagonoma |
|
Acanthocytosis, Normochromic anemia, Weight loss |
ORPHA:97280 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopathy, Difficulty walking |
ORPHA:536545 |
Somatostatinoma |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Spina bifida |
ORPHA:1393 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Limb Body Wall Complex |
|
Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal cord morphology, ... |
ORPHA:2369 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Ganglioneuroma, Abnormal midbrain morphology, Obesity, Impaired pain sensation |
ORPHA:293987 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Cachexia |
ORPHA:79076 |
Carney Complex |
|
Sertoli cell neoplasm, Testicular neoplasm, Testicular adrenal rest tumor, Oligozoospermia, Decre... |
ORPHA:1359 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky... |
ORPHA:881 |
Nocardiosis |
|
Brain abscess, Cutaneous abscess, Liver abscess, Weight loss |
ORPHA:31204 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Aganglionic megacolon, Tremor, Cryptorchidism, Kyphosis, Poor coordinati... |
ORPHA:821 |
Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:309000 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Proteus Syndrome |
|
Testicular neoplasm, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Macroo... |
ORPHA:744 |
Alström Syndrome |
|
Blindness, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Testicular fibrosis, Visual loss... |
ORPHA:64 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Decreased body weight, Failure to thrive, Abnor... |
ORPHA:79474 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Orthostatic hypotension |
OMIM:304150 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Weight loss, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Leprechaunism |
|
Skeletal muscle atrophy, Failure to thrive, Decreased body weight |
ORPHA:508 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Weight loss |
ORPHA:449395 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Flexion contracture, Weight loss |
ORPHA:99921 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Cystic Fibrosis |
|
Male infertility, Steatorrhea |
OMIM:219700 |
Wrinkly Skin Syndrome |
|
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis |
OMIM:278250 |
Coffin-Lowry Syndrome |
|
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Tetrasomy 9P |
|
Abnormal spinal cord morphology, Myositis |
ORPHA:3310 |
Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis |
OMIM:113620 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Cachexia, Eosinophilia, Myocardial calcification |
ORPHA:75565 |
Microphthalmia, Syndromic 1 |
|
Cryptorchidism, Blindness |
OMIM:309800 |
Viss Syndrome |
|
Kyphosis, Failure to thrive, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
Yunis-Varon Syndrome |
|
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... |
OMIM:216340 |