Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
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 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 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
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 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... |
ORPHA:401840 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
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 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
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 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Seizure, Spastic paraparesis |
OMIM:182610 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... |
ORPHA:208981 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Seizure, Tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility, Hearing impairment |
OMIM:608653 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Falls,... |
ORPHA:2932 |
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 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:180800 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia |
OMIM:165200 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor,... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Steppage gait, Difficulty walking, Frequent falls |
OMIM:618279 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Steppage gait |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... |
OMIM:606483 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Distal sensory impairment, Axonal regeneration, Steppage gait |
OMIM:615185 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Abnormal myelination, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hy... |
ORPHA:401820 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Motor conduction block,... |
ORPHA:206594 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor |
OMIM:615127 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Seizure, Tetraplegia, Status epilepticus, Inability to walk, Cerebral atrophy, Delayed myelination |
OMIM:618331 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Epilepsy, Progressive Myoclonic 7 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation |
OMIM:147530 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... |
OMIM:610245 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Tremor |
OMIM:312910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Seizure, Cavitating leukodystrophy |
OMIM:619061 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Spasticity, Delayed myelination |
OMIM:618185 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Lower limb spasticity |
ORPHA:401835 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Impaired distal proprioception, Frequent falls, Loss... |
ORPHA:101097 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, F... |
OMIM:611228 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia ... |
ORPHA:401830 |
Pelizaeus-Merzbacher Disease |
|
Dystonia, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Abnormal CNS myelination... |
OMIM:312080 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... |
OMIM:607677 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... |
OMIM:249900 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of e... |
OMIM:617672 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:601098 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... |
OMIM:608340 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... |
OMIM:607731 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... |
ORPHA:497764 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:118200 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, Limb ataxia, Gait... |
OMIM:617018 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... |
OMIM:609260 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Peripheral demyelination, Chorea, ... |
ORPHA:397946 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity |
OMIM:616494 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Steppag... |
OMIM:615035 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure |
OMIM:616421 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... |
OMIM:609311 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:118220 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, CNS demyelination, Abnormal oligodendroglia morph... |
ORPHA:217260 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... |
OMIM:615362 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Axonal loss, Peripheral demyelination, Ataxia, Difficulty walking |
OMIM:616684 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:614018 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... |
OMIM:258650 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:145900 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hand tremor, Axonal degeneration, Fasciculations, Tetraplegia, Distal sensory i... |
OMIM:604484 |
Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic paraparesis, Spastic ataxia |
OMIM:613672 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Segmental perip... |
OMIM:311070 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... |
ORPHA:99944 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spasticity, Babinski sign, Progressive spastic paraparesis, Seizure, Ankle clonus, De... |
ORPHA:506353 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Clumsiness, Hypertonia, Slurred speech, Tip-toe gait, Tetraparesis, Unsteady gait, Decreased numb... |
ORPHA:2386 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce... |
OMIM:300660 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Tremor, Hyperactivity, Inabil... |
OMIM:618090 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Rigidity, Fa... |
OMIM:300423 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Status epilepticus, Spasti... |
OMIM:614959 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Axonal loss, Peripheral demyelination, Myoclonus, Seizure, Aprax... |
OMIM:221770 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor, Focal-onset seizure |
OMIM:608105 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... |
ORPHA:94122 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... |
OMIM:607791 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... |
OMIM:104290 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic p... |
OMIM:182815 |
Developmental And Epileptic Encephalopathy 97 |
|
Seizure, Stereotypical hand wringing, Epileptic spasm, Tremor |
OMIM:619561 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory im... |
OMIM:604563 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Seizure, Ataxia, Tr... |
OMIM:617862 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis |
ORPHA:2815 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... |
OMIM:143100 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Seizure, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Leukodystrophy, Hypomyelinating, 13 |
|
Clonus, Leukodystrophy, Ataxia, Hypertonia, Spasticity, Delayed myelination |
OMIM:616881 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia |
OMIM:613721 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... |
OMIM:608673 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Seizure, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Distal sensory impairment, Axonal degeneration/regeneration |
OMIM:607736 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady g... |
OMIM:213200 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... |
OMIM:600116 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... |
ORPHA:2590 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Hypertonia, Bilateral tonic-clonic seizure |
OMIM:269720 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:85292 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations,... |
OMIM:607317 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number of pe... |
OMIM:608703 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia, Cerebellar vermis hyp... |
OMIM:618876 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Mast Syndrome |
|
Spastic paraplegia, Babinski sign, Spastic paraparesis, Apraxia |
OMIM:248900 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spastic paraplegia, Babinski sign, Abnormal myelination, Spasticity |
ORPHA:431329 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Impaired distal tactile sensation, Decreased number of large peripheral myelinated... |
ORPHA:101111 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Neuronal loss in central nervous system, Myoclonus, Seizure, Tremor, Ataxia, Hyperactiv... |
OMIM:615924 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Babinski sign, Spastic gait, Poor fine motor coordination, Spasticity, Spastic paraparesis |
ORPHA:320370 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Leukodystrophy, Intention tremor, Seizure, Hypertonia, Broad-based gait, Abn... |
OMIM:617964 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Tremor, Ataxia, Apl... |
ORPHA:79262 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... |
OMIM:162350 |
Pontocerebellar Hypoplasia, Type 2D |
|
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure, Cerebral atrophy, Delayed myeli... |
OMIM:613811 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Seizure, Ataxia, Spasticity, Paraparesis |
OMIM:617854 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, C... |
OMIM:600143 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... |
OMIM:607136 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 58 |
|
Stereotypy, Seizure, Status epilepticus, Spastic diplegia, Delayed myelination |
OMIM:617830 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Kufor-Rakeb Syndrome |
|
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... |
OMIM:606693 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... |
ORPHA:363654 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Adult Krabbe Disease |
|
Clumsiness, Babinski sign, Gait disturbance, Hoffmann sign, Acroparesthesia, CNS demyelination, F... |
ORPHA:206448 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... |
OMIM:600882 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cerebral hypom... |
OMIM:608804 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
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 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy... |
OMIM:612438 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Gait disturbance, Axonal loss, Decreased nerve conduction velocity, Distal ... |
OMIM:601455 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Seizure, Tongue fasciculations, Abnormal pyramidal sign... |
ORPHA:99 |
Metachromatic Leukodystrophy |
|
Babinski sign, Optic atrophy, Gait disturbance, Dystonia, Chorea, Peripheral demyelination, Decre... |
OMIM:250100 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Seizure, Generalized-onset seizu... |
OMIM:159950 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... |
OMIM:610532 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
Developmental And Epileptic Encephalopathy 91 |
|
Seizure, Spasticity, Cerebral atrophy, Unsteady gait, Delayed myelination |
OMIM:617711 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy of the dent... |
OMIM:125370 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
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 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... |
ORPHA:53583 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:98763 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Ataxia, Paraparesis |
ORPHA:99014 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... |
OMIM:607458 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Seizure, Impaired vibration s... |
OMIM:600363 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Motor conduction block, Impaired distal proprioception, Decreased ... |
ORPHA:99948 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Dystonia, Optic atrophy, Peripheral demyelination, Spastic tetraplegia, Seizure |
OMIM:618237 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
OMIM:616053 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Delayed myelination |
OMIM:617393 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis |
ORPHA:101005 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... |
OMIM:617836 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign |
OMIM:612016 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... |
OMIM:604168 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased ner... |
OMIM:245200 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... |
ORPHA:254343 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogwheel rigid... |
OMIM:607483 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations, Cer... |
OMIM:618170 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Seizure, Tre... |
OMIM:614831 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... |
ORPHA:275872 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Abnormal myelination, Seizure, Brain atrophy, Cerebral a... |
ORPHA:85179 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... |
OMIM:617810 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... |
OMIM:609033 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Seiz... |
OMIM:225753 |
Behr Syndrome |
|
Progressive spasticity, Optic atrophy, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Spasticity, Delayed myelination |
OMIM:617800 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Seizure, Spasticity, Leukodystrophy, Delayed myelination |
OMIM:617613 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... |
OMIM:270550 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Chorea, Benign Hereditary |
|
Anxiety, Gait disturbance |
OMIM:118700 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment... |
OMIM:618387 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism |
OMIM:105550 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Tremor, Fasciculations, Degeneration of anterior horn... |
ORPHA:65684 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor... |
ORPHA:330050 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral axonal neuropathy, Tremor... |
ORPHA:101077 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Br... |
OMIM:221820 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... |
OMIM:619191 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction |
ORPHA:71211 |
Diaminopentanuria |
|
Seizure, Ataxia, Spasticity, Neurodegeneration |
OMIM:222350 |
Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Rigidity, Leukodystrophy, Tremor, Loss of ability to walk |
OMIM:615010 |
Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
Leukodystrophy, Hypomyelinating, 9 |
|
Dysmetria, Abnormality of extrapyramidal motor function, Leukodystrophy, Intention tremor, Ataxia... |
OMIM:616140 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... |
ORPHA:79263 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Ataxia, Tremor, Hyperactivity, Spasticity, Delayed CNS myelination, Cerebral cortical at... |
OMIM:300983 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Cerebellar atrophy, Reduced sperm motility, Hearing impai... |
ORPHA:320391 |
Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticu... |
OMIM:615338 |
Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve conduction ve... |
ORPHA:276435 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Subcortical cerebral atrophy, Seizure, Ataxia, Hypertonia, Tremor, Spasticity, Cerebell... |
ORPHA:33445 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Delayed myelination, Stereotypy |
OMIM:613886 |
Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Cerebral hypomyelination, Spastic tetraplegia, Tremor, Status epi... |
OMIM:612164 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... |
ORPHA:228360 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Optic atrophy, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... |
ORPHA:216873 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... |
OMIM:615376 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central nervous system, Glios... |
OMIM:614498 |
Primary Angiitis Of The Central Nervous System |
|
Paralysis, Hemiparesis, Paraparesis, Ataxia, Seizure, Tetraparesis, Parkinsonism |
ORPHA:140989 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Frequent f... |
ORPHA:3115 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Peripheral demyelination, Tremor, Ataxia, Seizure |
OMIM:220111 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Seizure, Spastic tetraparesis, Spastic ataxia |
ORPHA:496756 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity, Bilateral ton... |
OMIM:619639 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Abnormal CNS myelin... |
ORPHA:477673 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Falls, Chin myoclonus, Generalized myoclonic seizure, Generalized... |
ORPHA:139426 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ata... |
ORPHA:313772 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... |
ORPHA:391411 |
3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Adrenoleukodystrophy |
|
Paraparesis, Hypogonadism, Seizure, Slurred speech, Incoordination, Truncal ataxia, Impotence, Sp... |
OMIM:300100 |
Continuous Spikes And Waves During Sleep |
|
Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... |
ORPHA:725 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Babinski sign, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Dysmyelinating leukodystro... |
OMIM:612319 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Seizure, Ataxia, Inability to walk, ... |
OMIM:617804 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Babinski sign, Leukodystrophy, Ataxia, Difficulty walking, Spasticity, Generalized non-motor (abs... |
OMIM:618242 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Falls, Resting tremor, Shor... |
ORPHA:306692 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Chorea, T... |
OMIM:618093 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Tremor, Ataxia, Seizure, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... |
ORPHA:352675 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Stereotypy |
OMIM:616341 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Myoclonus, Gliosis, Abnormality of extrapyramidal motor ... |
OMIM:604218 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Falls, Bradykinesia, Spastic tetrapleg... |
OMIM:617225 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Involuntary movements, Multifocal seizures, Ataxia, Status epilepticus, Spasticity, Delayed myeli... |
OMIM:615905 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Developmental And Epileptic Encephalopathy 79 |
|
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... |
OMIM:618559 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... |
OMIM:256731 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Seizure, Hypertonia |
OMIM:261630 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination, Spasticity |
OMIM:617731 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Leukodystrophy, Hypomyelinating, 3 |
|
Sudanophilic leukodystrophy, Leukodystrophy, Seizure, Abnormal pyramidal sign, Spastic paraparesis |
OMIM:260600 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Frequent falls... |
ORPHA:512260 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Focal motor seizure, Spastic paraparesis, Generalized non-motor (... |
OMIM:619338 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia |
ORPHA:101078 |
Infantile Convulsions And Choreoathetosis |
|
Athetosis, Involuntary movements, Experiential epileptic aura, Choreoathetosis, Chorea, Paroxysma... |
ORPHA:31709 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss, Fas... |
ORPHA:98756 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, General... |
ORPHA:79137 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired proprioception, Babinski sign, Peripheral axonal neuropathy, Spastic dysarthria, Lower l... |
ORPHA:352641 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Lower limb spasticity, Seizure, Ataxia, Generalized myo... |
ORPHA:464282 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... |
OMIM:162400 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Seizure, Tremor, Hypertonia, Ankle c... |
OMIM:617435 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Spastic ataxia, Seizure, Cerebral atrophy, Loss of ambulation, Hypertonia, Slurred sp... |
ORPHA:137898 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis |
OMIM:302802 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... |
ORPHA:101071 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... |
OMIM:615157 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... |
OMIM:604360 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Parietal cortical atrophy, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Demy... |
ORPHA:98 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Lower limb spasticity, Seizure, Ataxia, Inability to walk, Waddling gait, Broad-based g... |
OMIM:616756 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Cystathioninuria |
|
Seizure, Tremor |
ORPHA:212 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Pa... |
ORPHA:71517 |
Folinic Acid-Responsive Seizures |
|
Dystonia, Cerebellar atrophy, Cerebral hypomyelination, Chorea, Seizure, Clonic seizure, Status e... |
ORPHA:79097 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Seizure, Broad-based gait |
OMIM:619470 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Seizure, Status ep... |
ORPHA:168486 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Seizure, Ataxia, Tetraparesis |
ORPHA:27 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Delayed myelination |
OMIM:617391 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... |
OMIM:610185 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism |
ORPHA:210571 |
Spastic Ataxia 5, Autosomal Recessive |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia,... |
OMIM:614487 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Myoclonic Epilepsy Of Infancy |
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Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... |
ORPHA:86909 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Dystonia, Decreased number of large peripheral myelinated nerve f... |
OMIM:208920 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Dystonia, Cerebellar atrophy, Myoclonus, Seizure, Progressive cerebellar ataxia, Tremor, Abnormal... |
ORPHA:139485 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Seizure, Tremor, H... |
OMIM:618877 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Abnormality of extrapyramidal mot... |
ORPHA:320406 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Spastic tetrap... |
OMIM:609136 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Charcot-Marie-Tooth Disease, Type 4B3 |
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Onion bulb formation, Gait disturbance, Distal sensory impairment, Decreased nerve conduction vel... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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Onion bulb formation, Distal sensory impairment, Axonal loss, Steppage gait |
OMIM:614455 |
47,Xyy Syndrome |
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Hypospadias, Oligospermia, Macroorchidism, Dysgenesis of the cerebellar vermis, Azoospermia, Cere... |
ORPHA:8 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Febrile seizure (within the age range of 3 months to 6 years), Abnormal myelination, Bilateral to... |
ORPHA:289266 |
Neuronal Intranuclear Inclusion Disease |
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Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... |
OMIM:603472 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Irregular myelin loops, Distal sensory impairment, Fac... |
OMIM:601382 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
L-2-Hydroxyglutaric Aciduria |
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Cerebellar atrophy, Severe demyelination of the white matter, Global brain atrophy, Gliosis, Abno... |
OMIM:236792 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Dystonia 24 |
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Torticollis, Head tremor, Blepharospasm |
OMIM:615034 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
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Seizure, Inability to walk, Cerebellar atrophy, Abnormal myelination |
OMIM:618324 |
Spastic Paraplegia 2, X-Linked |
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Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Spastic paraplegia, Spastic parapa... |
OMIM:312920 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Seizure, Spasticity |
OMIM:612716 |
Spinocerebellar Ataxia Type 28 |
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Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
Spinocerebellar Ataxia Type 27 |
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Gait disturbance, Hand tremor, Sensory axonal neuropathy, Tremor, Truncal ataxia, Akinesia, Limb ... |
ORPHA:98764 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
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CNS hypomyelination, Ataxia, Hypergonadotropic hypogonadism |
ORPHA:88637 |
Atypical Rett Syndrome |
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Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... |
ORPHA:3095 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Speech apraxia, Seizure, Bilate... |
OMIM:245570 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Rigidity, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
Young Syndrome |
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Azoospermia |
OMIM:279000 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Lennox-Gastaut Syndrome |
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Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 17 |
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Athetosis, Dystonia, Chorea, Cerebral atrophy, Generalized tonic seizure, Delayed myelination |
OMIM:615473 |
Juvenile Absence Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Limb fasciculations, Tremor, Abnormal peripheral action potential amplitude, Inability to walk, D... |
ORPHA:90117 |
Pontocerebellar Hypoplasia, Type 14 |
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Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegia, Hyperto... |
OMIM:619301 |
Parkinson Disease 14, Autosomal Recessive |
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Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... |
OMIM:612953 |
Developmental And Epileptic Encephalopathy 28 |
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