Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
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 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
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 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
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 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media |
OMIM:617585 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
Spinocerebellar Ataxia Type 4 |
|
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... |
ORPHA:98765 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Spastic Ataxia With Congenital Miosis |
|
Hemiplegia/hemiparesis, Spastic ataxia, Ataxia |
ORPHA:1182 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Glioma Susceptibility 1 |
|
Ependymoma, Astrocytoma, Glioblastoma multiforme |
OMIM:137800 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Upper limb postural tremor, Limb dystonia, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogre... |
ORPHA:94122 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy |
OMIM:615268 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Ataxia, Hypertonia |
ORPHA:2672 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... |
OMIM:615768 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia |
OMIM:617133 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:607458 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dysto... |
OMIM:614860 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia |
OMIM:611694 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Broad-... |
ORPHA:284332 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim... |
OMIM:610245 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Torsion dystonia, Focal dystonia, Action tremor, Cra... |
ORPHA:98807 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal proprioception, Spasticity, Impaired distal vibration sensation, Spastic gait, At... |
OMIM:619742 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, Intention tremor, Cerebellar vermis hypoplasia |
OMIM:618876 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... |
OMIM:605407 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... |
ORPHA:98763 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... |
OMIM:302500 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy |
OMIM:141500 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Cerebell... |
OMIM:604326 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... |
ORPHA:95434 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Impaired vibration sensation at ankles, Spastic gait, Postural tremor |
ORPHA:401849 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor |
OMIM:608029 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Babinski sign, Aplasia/Hypoplasia of the cerebellar... |
ORPHA:401820 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia |
ORPHA:85338 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormalit... |
ORPHA:79262 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... |
OMIM:615386 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Huntington Disease |
|
Gait ataxia, Chorea, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Bradyk... |
OMIM:143100 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Brain atrophy, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Bradykinesia |
OMIM:618317 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Cerebellar atrophy |
OMIM:614322 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... |
OMIM:610357 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Cerebellar atrophy, Ventriculomegaly, Ataxia |
OMIM:613402 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... |
ORPHA:454887 |
Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
Microlissencephaly |
|
Subcortical heterotopia, Cerebral cortical atrophy, Periventricular heterotopia, Ventriculomegaly... |
ORPHA:1083 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... |
OMIM:616127 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... |
OMIM:619028 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
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 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:618387 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Rigidity, Abnormality of extrapyramidal motor function, Cerebellar atrophy, D... |
ORPHA:385 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... |
OMIM:607565 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spinocerebellar Ataxia 50 |
|
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... |
OMIM:620158 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia |
OMIM:208700 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ventriculomegaly, Agyria, Ataxia, Dysgyria, Hypoplasia of the... |
ORPHA:467166 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... |
ORPHA:399805 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections |
OMIM:617014 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Intention tremor, Trunca... |
OMIM:117360 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Dysdiadochokinesis, Spastic dysarthria, Clumsiness, Progressive gait a... |
ORPHA:1175 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia |
OMIM:615705 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Spastic dysarthria, Hand tremor, Aplasia/Hypoplasia of the cerebe... |
ORPHA:401830 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Dense calcifications in the cerebellar dentate nucleus, Abnormal pyramidal sign, Dysdiado... |
OMIM:213600 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Cerebellar cortical at... |
ORPHA:171622 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly, Lissencephaly, Pachygyria, Cerebral atrophy, Cerebellar atrophy, Polymicrogyria |
OMIM:618730 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigm... |
OMIM:610951 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Retrocerebellar cyst, Dilated fourth ventricle, Gait ataxia, Abnormal pyramidal sign, Dysdiadocho... |
OMIM:614831 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Dandy-Walker Syndrome |
|
Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cereb... |
OMIM:220200 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor, Cerebellar atrophy... |
OMIM:618090 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Trem... |
OMIM:615362 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Loss of Purkinje cells in the cerebellar vermis, Spastic ... |
OMIM:616795 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Progressive gait ataxia, Truncal ataxia, Paralysis, Limb ataxia, Bab... |
ORPHA:101112 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Cerebellar hypoplasia, Atrophy of the dentate nucleus, Truncal ataxia, Dysmet... |
OMIM:610185 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys... |
ORPHA:453521 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Rigidity, Gait disturbance, Slurred speech, Degeneration of the striatum, Bra... |
OMIM:609161 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Limb ataxia, Diffuse cerebral atrophy, Ataxia, Positive Romberg sign, Neuron... |
OMIM:607136 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Falls, Shuffling gait, Resting tremor, Rigidity, Parkinsonism, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
Spinocerebellar Ataxia 46 |
|
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Cerebellar atrophy |
OMIM:617770 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... |
ORPHA:98764 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy, ... |
OMIM:618093 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb tremor, Ce... |
OMIM:256731 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... |
OMIM:617225 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Limb dystonia, Or... |
ORPHA:420485 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Global brain atrophy, Shuffling gait, Gait disturbance, Neuronal los... |
OMIM:221820 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Basal ganglia gliosis, Optic atrophy, Atrophy/Degeneration involving the caudate nuc... |
ORPHA:225154 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Gait ataxia, Spasticity, Spastic ataxia, Cerebellar hypoplasia, Spastic dysarthria, Dysmetria, Pr... |
ORPHA:314603 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Tremor, Cerebellar atrophy |
OMIM:616494 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Cerebellar atrophy, Dystonia |
OMIM:617916 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations |
OMIM:183050 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa... |
OMIM:616719 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Cer... |
ORPHA:71517 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Poor fine motor coordination, Gait ataxia, Cerebellar vermis atrophy, Broad-based gait, Frequent ... |
ORPHA:512260 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... |
ORPHA:397946 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Ataxia |
OMIM:613925 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... |
ORPHA:98773 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy |
OMIM:609306 |
Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... |
OMIM:619806 |
Alexander Disease Type I |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Hydrocephalus, Ataxia |
ORPHA:363717 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Spastic gait, Cerebral atrophy, Difficulty walking |
OMIM:611252 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Spinocerebellar Ataxia 5 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... |
OMIM:600224 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy |
OMIM:614229 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Cerebellar atrophy |
OMIM:610743 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... |
OMIM:224050 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Inability to walk, Ataxia, Hypoplasia of the pons, Cerebellar atrophy, Dysp... |
OMIM:618276 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy |
OMIM:617691 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, Truncal ataxia, Limb ataxia, T2 hypointe... |
ORPHA:135 |
Spinocerebellar Ataxia Type 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... |
ORPHA:208513 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... |
OMIM:617633 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Cerebellar atrophy, Ataxia |
OMIM:600143 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Atrophy/Degeneratio... |
OMIM:617862 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Limb ataxia, Bradykinesia, Cerebellar calcifications |
OMIM:618824 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Dysdiadochokinesis, Progressive gait ataxia, Truncal ataxia, Dysmetria, Slurred speec... |
ORPHA:352403 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Chiari type I malformation, Dystonia, Bradykinesia |
OMIM:617836 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Ventriculomegaly, Cerebellar hypoplasia, Gliosis, Pachygyria, Cerebellar atrophy, Abnormal astroc... |
ORPHA:168486 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Clumsiness, Limb dystonia, G... |
ORPHA:216873 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy... |
ORPHA:139485 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, Gait disturbance |
OMIM:600795 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Cerebellar atrophy, Ventriculomegaly |
OMIM:619323 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Cerebellar atrophy, Cerebral atrophy |
OMIM:611726 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Cerebellar Purkinje layer atrophy, Kinetic tr... |
ORPHA:98756 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... |
ORPHA:1170 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Simplified gyral pattern, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased thalamic vo... |
OMIM:619072 |
Hemimegalencephaly |
|
Gray matter heterotopia, Ventriculomegaly, Gliosis, Pachygyria, Abnormal neuron morphology, Polym... |
ORPHA:99802 |
Behr Syndrome |
|
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... |
OMIM:210000 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... |
OMIM:619862 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking |
OMIM:613608 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Cerebel... |
ORPHA:79243 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, Dysmetria, Tremor, Ce... |
OMIM:617810 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Ataxia, Babinski sign, Positive Romberg sign, Dysmetria, Loss of amb... |
OMIM:618088 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar hemisphere hypoplasia, Simplified gyral pattern, Gliosis, Cerebral atrophy, Cerebellar... |
OMIM:615095 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Cerebral cortical atrophy, Spastic ataxia, Gait imbalance, Gait disturbance, Gliosis... |
OMIM:618369 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia |
OMIM:605909 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Gait ataxia, Inability to walk, T2 hypointense thalamus, Ataxia, Cerebral atrophy, Cerebellar atr... |
ORPHA:1947 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Polymicrogyria |
OMIM:618973 |
Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:614255 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Unsteady gait, Agene... |
OMIM:617542 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Global brain atrophy, Chorea, Neuronal loss in central nervous system, Central nervo... |
ORPHA:282166 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere... |
OMIM:608768 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Gliosis, Distal senso... |
OMIM:604484 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking |
OMIM:614018 |
Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Unsteady gait, Progressive cerebellar ataxia... |
ORPHA:497764 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Gait disturbance, Cerebral cortical atrophy, T2 hypointense thalamus, Caudate atrophy |
OMIM:618193 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Inability to walk, Ataxia, Cerebellar atrophy, Corpus callosum atrophy |
OMIM:619389 |
Monomelic Amyotrophy |
|
Fasciculations, Tremor, Degeneration of anterior horn cells |
ORPHA:65684 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia |
ORPHA:101078 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Rigidity, Ataxia, Tremo... |
ORPHA:33445 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... |
OMIM:614409 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Retinal dysplasia, Partial agenesis of th... |
OMIM:615771 |
Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atrop... |
ORPHA:101111 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy |
OMIM:618468 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia |
ORPHA:101075 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Choreoathetosis, Limb ataxia, Gait disturbance, Cerebellar atrophy, Atroph... |
OMIM:616230 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa... |
ORPHA:100988 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Juvenile Huntington Disease |
|
Chorea, Gait ataxia, Cerebellar vermis atrophy, Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, ... |
ORPHA:248111 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar atrophy, Dystonia |
OMIM:615889 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... |
ORPHA:98772 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... |
OMIM:183090 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Cerebell... |
OMIM:619738 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Cerebellar atrophy |
ORPHA:98771 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebe... |
OMIM:133190 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Ventriculomegaly, Cerebellar cyst, Difficulty walking, Pac... |
ORPHA:370980 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... |
ORPHA:240103 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy |
OMIM:612020 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Cerebral cortical atrophy, Ventriculomegaly, Gait disturbance, Dysmetria, Gl... |
ORPHA:157941 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Abnormality of thalamus morphology, Lateral ventricle dilatation, Cerebellar hypo... |
ORPHA:300570 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... |
OMIM:612067 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, Limb ataxia, Han... |
ORPHA:276198 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... |
ORPHA:370959 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Decreased thalamic volume |
OMIM:618646 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis |
OMIM:614959 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Gait disturbance, Gliosis, Cerebral atrophy, Caudate atrophy, Abnor... |
OMIM:221770 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... |
OMIM:215470 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... |
ORPHA:251347 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebellar atrophy, Dystonia, Bradykinesia |
ORPHA:329284 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri... |
OMIM:302800 |
Spinocerebellar Ataxia 6 |
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Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee... |
OMIM:183086 |
Peroxisome Biogenesis Disorder 8B |
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Gait ataxia, Spasticity, Cerebellar vermis atrophy, Ankle clonus, Tip-toe gait, Limb tremor, Rigi... |
OMIM:614877 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Coenzyme Q10 Deficiency, Primary, 4 |
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Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Cerebellar atrophy |
OMIM:612016 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the... |
ORPHA:137898 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... |
ORPHA:420492 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Oculomoto... |
ORPHA:370022 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Dis... |
OMIM:208920 |
Lopes-Maciel-Rodan Syndrome |
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Spasticity, Cerebellar vermis atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia,... |
OMIM:617435 |
Hemochromatosis, Type 5 |
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Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Leukodystrophy, Hypomyelinating, 6 |
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Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Cerebellar atrophy, Dy... |
OMIM:612438 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... |
OMIM:616171 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
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Myoclonus, Tremor, Dystonia |
OMIM:619651 |
Spermatogenic Failure 14 |
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Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
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Cerebellar atrophy, Brain atrophy |
OMIM:618741 |
Neurodevelopmental Disorder With Dystonia And Seizures |
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Chorea, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Temperature instabili... |
OMIM:619922 |
Spastic Ataxia 3, Autosomal Recessive |
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Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Ataxia, Dysmetria, Loss of am... |
OMIM:611390 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
Myopathy, spheroid body |
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Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
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Periodic paralysis, Hand tremor |
OMIM:609153 |
Peroxisome Biogenesis Disorder 5B |
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Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:614867 |
Behavioral Variant Of Frontotemporal Dementia |
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Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy |
ORPHA:275864 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
Isolated Follicle Stimulating Hormone Deficiency |
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