Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Candidiasis, Familial, 4 |
|
Recurrent vulvovaginal candidiasis, Onychomycosis |
OMIM:613108 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections |
OMIM:617585 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia |
OMIM:168885 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Monocyte and dendritic cell deficiency, autosomal recessive |
|
Recurrent infections |
OMIM:614894 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Abasia |
OMIM:209100 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia |
OMIM:613855 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, Limb ataxia, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... |
ORPHA:98765 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... |
ORPHA:94122 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Neuhauser-Eichner-Opitz Syndrome |
|
Ataxia, Hypertonia, Spasticity, Rigidity |
ORPHA:2672 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Glioma Susceptibility 1 |
|
Ependymoma, Astrocytoma, Glioblastoma multiforme |
OMIM:137800 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination |
ORPHA:98766 |
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Immunodeficiency 32A |
|
Lymphadenopathy, Recurrent infections |
OMIM:614893 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Ataxia, Progressiv... |
OMIM:613402 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617133 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... |
OMIM:611302 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Microlissencephaly |
|
Cerebral dysmyelination, Cerebellar atrophy, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l... |
OMIM:610245 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Babinski sign, Gait disturbance, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology |
OMIM:618418 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia |
OMIM:611031 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Ataxia, Cerebellar vermis hypoplasia |
OMIM:618876 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Ataxia, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, Microcephaly |
OMIM:615771 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... |
OMIM:613925 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:98763 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Ventriculomegaly, Pachygyria, Hypoplasia of... |
OMIM:618730 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia |
OMIM:611694 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Difficulty walking, Hy... |
ORPHA:171622 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... |
ORPHA:401820 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... |
OMIM:213200 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Torticollis, Gliosis, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Gait disturbance, Dystonia, Choreoathetosis, Basal ganglia gliosis, Astrocytosis, ... |
ORPHA:225154 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity |
ORPHA:401849 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... |
ORPHA:79262 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Ataxia, Progr... |
OMIM:617862 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal cerebellu... |
OMIM:162350 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus |
OMIM:125370 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor |
OMIM:300660 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Retinopathy, Pigmentary retinopathy... |
OMIM:610951 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia, Cerebral degeneration |
OMIM:260970 |
Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... |
OMIM:607341 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait ataxia, Cerebral atrophy |
OMIM:616192 |
Huntington Disease |
|
Cerebellar atrophy, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Gait ... |
OMIM:143100 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615705 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia |
ORPHA:210128 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Spastic gait, Cerebral atrophy, Hypoplasia of the corpus callosum, Difficulty... |
OMIM:611252 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Bradykinesia, Generalized dystonia, Basal ganglia calcification, Limb ata... |
OMIM:618824 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... |
OMIM:600143 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... |
ORPHA:300573 |
Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Gliosis, Astrocytosis, Ataxia, Cerebral atrophy, Cerebra... |
ORPHA:204 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Neuronal loss in central nervous system, Gliosis... |
OMIM:607136 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcep... |
OMIM:611726 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Neuronal loss in the cerebral cortex,... |
ORPHA:168486 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections |
OMIM:617014 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Spastic ataxia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Hemiplegia/hemipa... |
ORPHA:2572 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Neuronal loss in central nervous system, Astrocytosis, Cerebral corti... |
OMIM:600795 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Iron accumulation in globus pallidus, Ataxia, Inability to walk, Corpus callo... |
OMIM:619389 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia, Inability to walk, Microcephaly |
OMIM:618276 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Hemimegalencephaly |
|
Hemimegalencephaly, Abnormal neuron morphology, Gliosis, Ventriculomegaly, Pachygyria, Polymicrog... |
ORPHA:99802 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... |
ORPHA:401830 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Periventricular white matter hyperintensities, Inability to walk, Cerebral at... |
OMIM:618468 |
Spinocerebellar Ataxia Type 26 |
|
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... |
ORPHA:101112 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cerebellar atrophy, Tetraplegia, Oculomotor apraxia, Ataxia |
OMIM:616267 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... |
OMIM:610185 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis, Recurrent herpes |
OMIM:610551 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Hypoplasia of the olfactory bulb, Inability to walk, Abnormality of the basal ganglia, ... |
OMIM:618646 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... |
OMIM:617633 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Babinski sign, Dystonia, Knee clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Cerebral atrophy, Hypoplasia of the c... |
OMIM:618973 |
Leukodystrophy, Hypomyelinating, 9 |
|
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity |
OMIM:616140 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Leukoencephalopathy, Shuffling gait, Bradykines... |
OMIM:221820 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... |
OMIM:300423 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor, Abnormal cerebellum morphology |
OMIM:190310 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebral cortical atrophy, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the cor... |
OMIM:619072 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Oromandibular dystonia,... |
ORPHA:397725 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Neuronal loss in basal ganglia, Chorea, Bradykinesia, Ventriculomeg... |
ORPHA:248111 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Agenesis of cereb... |
OMIM:220200 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... |
OMIM:618317 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... |
ORPHA:385 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Gordon Holmes Syndrome |
|
Ataxia, Cerebellar atrophy, Cerebral atrophy |
OMIM:212840 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia |
OMIM:615217 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Degeneration of anterior horn cells, Astrocytosis, Cerebral atrophy |
OMIM:600333 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Gait disturbance, Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointen... |
OMIM:618193 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar cyst, Cereb... |
ORPHA:79243 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Spinocerebellar Ataxia 28 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... |
OMIM:618093 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... |
ORPHA:53583 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Inc... |
OMIM:616204 |
Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Hypoplasia of the corpus callosum, Cerebral cor... |
OMIM:614959 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... |
ORPHA:98773 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Diaminopentanuria |
|
Ataxia, Spasticity, Neurodegeneration |
OMIM:222350 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Inherited Creutzfeldt-Jakob Disease |
|
Central nervous system degeneration, Global brain atrophy, Neuronal loss in central nervous syste... |
ORPHA:282166 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, ... |
ORPHA:208513 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Cerebellar atrophy, Ventriculomegaly, Pachygyria, Tip-toe gait, Abnormal cerebra... |
ORPHA:370980 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity |
OMIM:617916 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... |
OMIM:604187 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Head tremor, Blepharospasm |
OMIM:615034 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity |
ORPHA:401835 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Dysmetria, Simplified gyral pattern, Pachygyria, Dysdiadochokinesis, Truncal ... |
OMIM:224050 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Neuroferritinopathy |
|
Dystonia, Arm dystonia, Leg dystonia, Writer's cramp, Caudate atrophy, Chorea, Abnormal caudate n... |
ORPHA:157846 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... |
ORPHA:397946 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Ventriculomegaly, Cere... |
OMIM:614946 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis |
OMIM:609161 |
Nescav Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Microcephaly |
OMIM:614255 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... |
OMIM:133190 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Leukoencephalopathy, Abnormal motor neuron morphology, Abnormality of thalamus morph... |
OMIM:613724 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Spasticit... |
ORPHA:314603 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy, Cerebral atrophy |
OMIM:609924 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... |
OMIM:617964 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... |
ORPHA:71517 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Polymicrogyria, Cerebellar hypoplasia... |
ORPHA:300570 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal cerebral white matter m... |
ORPHA:275864 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:616531 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Oculomo... |
ORPHA:1170 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoplasia of the corpus callosum, Cerebellar atrophy, Iron accumulation in substantia nigra, Spa... |
ORPHA:496756 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Dystonia, Cerebellar atrophy, Chorea, Ventriculomegaly, Ataxia, Inability to walk, Cerebral atrop... |
OMIM:617804 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brain... |
ORPHA:135 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... |
OMIM:617542 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Ataxia, Cerebellar vermis atrophy, Inability to walk, Gait ataxia |
OMIM:618501 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Microcephaly, Cerebral atrophy |
OMIM:617899 |
Spinocerebellar Ataxia 27 |
|
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... |
OMIM:609307 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Spinocerebellar Ataxia Type 43 |
|
Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Unsteady gai... |
ORPHA:497764 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... |
OMIM:615157 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Gait ataxia, Ventriculomegaly |
OMIM:619323 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia |
OMIM:618412 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Gliosis, Axonal degeneration, Distal sensory impairment, Degeneration of anteri... |
OMIM:604484 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Gait disturbance, Dystonia, Parkinsonism, Cerebellar atrophy, Rigidity, Wr... |
ORPHA:98759 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Dystonia, Ataxia, Choreoathetosis |
OMIM:612126 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:612936 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Gait disturbance, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dysto... |
ORPHA:216873 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Dystonia, Cerebral white matter atrophy, Chorea, Abnormal substantia ... |
ORPHA:98756 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... |
ORPHA:352641 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Cerebellar atrophy |
OMIM:614706 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Cerebellar atrophy, Difficulty ... |
ORPHA:468661 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Spastic ataxia, Gait ataxia, Cerebr... |
OMIM:611390 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Choreoathetosis, Cerebral atrophy |
OMIM:616981 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking |
OMIM:619191 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... |
OMIM:606183 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cerebellar hypopla... |
OMIM:617810 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Brain atrophy, Microcephaly |
OMIM:618741 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... |
OMIM:608768 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Pachygyria, Progressive microcephaly, Hypoplasia of the cor... |
OMIM:617507 |
Spinocerebellar Ataxia Type 25 |
|
Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atrophy, Distal se... |
ORPHA:101111 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypoplasia, Abnormal cerebellar verm... |
ORPHA:33445 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells |
ORPHA:65684 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
Huntington Disease-Like 1 |
|
Gait disturbance, Cerebellar atrophy, Dysmetria, Chorea, Gliosis, Bradykinesia, Ventriculomegaly,... |
ORPHA:157941 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Caudate atrophy, Gliosis, Leukoencephalopathy, Cerebral atrophy, Basal ganglia ... |
OMIM:221770 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Hyperactivity, Ataxia, Spasticity |
OMIM:612716 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Spinocerebellar Ataxia 25 |
|
Ataxia, Cerebellar atrophy, Abolished vibration sense, Impaired pain sensation |
OMIM:608703 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia |
OMIM:618302 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Chorea, Progressive microcephaly, Cerebral atrophy, Abnormal periventricular ... |
OMIM:613811 |
Dystonia 7, Torsion |
|
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... |
OMIM:602124 |
Nystagmus, Hereditary Vertical |
|
Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... |
OMIM:617435 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Babinski sign, Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... |
ORPHA:98 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Chorea, Ataxia, Cerebral atrophy, Hypoplasia of ... |
OMIM:617672 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... |
OMIM:618598 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
Spastic Ataxia 9, Autosomal Recessive |
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Ataxia, Cerebellar vermis atrophy |
OMIM:618438 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Postural tremor, Gait disturbance, Babinski sign, Lower limb spasticity, Impaired vibratory sensa... |
ORPHA:100988 |
Spinocerebellar Ataxia Type 36 |
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Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Loss of ... |
ORPHA:276198 |
Spinocerebellar Ataxia Type 19/22 |
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Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
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Distal sensory impairment, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
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Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... |
OMIM:617560 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... |
OMIM:105550 |
Parkinson Disease 14, Autosomal Recessive |
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Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
Frontotemporal Dementia With Motor Neuron Disease |
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Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Neuronal loss in... |
ORPHA:275872 |
Isolated Follicle Stimulating Hormone Deficiency |
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Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Ataxia, ... |
OMIM:256600 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Joubert Syndrome 25 |
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Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cerebellar cyst, Diffuse white matter abnormalities, Fusion of the cerebellar hemispheres, Dilate... |
ORPHA:370959 |
Familial Dyskinesia And Facial Myokymia |
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Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
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Cerebellar atrophy, Waddling gait, Microcephaly, Cerebral atrophy |
OMIM:619090 |
Leigh Syndrome With Cardiomyopathy |
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Dystonia, Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal globus pal... |
ORPHA:70474 |
Familial Acute Necrotizing Encephalopathy |
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Gait disturbance, Gliosis, Fever, Abnormal putamen morphology, Cerebral edema, Abnormality of tha... |
ORPHA:88619 |
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