Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619964 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... |
OMIM:615400 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
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 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Hypotonia |
OMIM:213000 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure |
OMIM:117100 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... |
OMIM:162350 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia |
ORPHA:276183 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Spinocerebellar Ataxia 32 |
|
Infertility, Ataxia, Testicular atrophy, Cerebellar atrophy, Azoospermia |
OMIM:613909 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:605021 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy, Dysphagia |
OMIM:615945 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... |
OMIM:616230 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Cerebellar edema, Bilateral tonic-clonic seizu... |
OMIM:618924 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Seizure |
OMIM:617643 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... |
OMIM:608096 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... |
OMIM:615697 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... |
OMIM:616981 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy |
ORPHA:211017 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... |
OMIM:618093 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... |
OMIM:615369 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature ovarian insufficiency |
OMIM:615889 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, G... |
OMIM:617810 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:604213 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait distur... |
OMIM:618090 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... |
ORPHA:94122 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... |
ORPHA:101046 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Developmental And Epileptic Encephalopathy 98 |
|
Clonic seizure, Poor eye contact, Bilateral tonic-clonic seizure with focal onset, Refractory sta... |
OMIM:619605 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Hypertriglyceridemia, Tremor, Dystonia |
OMIM:615924 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Appendicular hypotonia, Ataxia, Inability to walk, Cerebellar atrophy, Hypotonia |
OMIM:619333 |
Gordon Holmes Syndrome |
|
Infertility, Ataxia, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar atrophy |
OMIM:212840 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure |
OMIM:141500 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy |
OMIM:615268 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Atonic seizure, Extrapyramidal muscular rigidity, Dysmetria, Ba... |
ORPHA:93952 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure, Cerebellar atrophy |
OMIM:610003 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure |
OMIM:616187 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure |
OMIM:266100 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Sei... |
OMIM:615362 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Clonic seizure, Tonic seizure, Stereotypical hand wringing, ... |
OMIM:618917 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... |
OMIM:617831 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:245570 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol con... |
OMIM:615703 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dysphagia,... |
OMIM:611694 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypertonia, Hypoplasia of the pons, Cerebellar hypoplasia, Infantile spasms, Myoclonic seizure, B... |
OMIM:619301 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Ataxia, Decreased body weight, Athetosis, Bilateral tonic-clonic seizure, Cere... |
OMIM:614559 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Tremor, Cerebellar atrophy, Seizure |
OMIM:617862 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic ataxia, Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus,... |
OMIM:614487 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure |
OMIM:616409 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:601217 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:614558 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy, Hypotonia |
OMIM:617917 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Clumsiness, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:1947 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity, Cerebellar atrophy, Seizure |
OMIM:613402 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... |
OMIM:617935 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Developmental And Epileptic Encephalopathy 34 |
|
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... |
OMIM:616645 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... |
ORPHA:65683 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Hyperactivity, Generalized myoclonic seizure, Hyperkinetic movements,... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... |
OMIM:204300 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Neonatal hypotonia, Intention tremor, Cerebellar atrophy |
OMIM:302500 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Infantile spasms, Cerebellar hypoplasia, Myoclonic seizure, Bilateral ... |
OMIM:619302 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... |
ORPHA:363549 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... |
ORPHA:313772 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Ce... |
ORPHA:314978 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... |
OMIM:618876 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... |
OMIM:617145 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Cerebellar atrophy, Seizure, Dysphagia, Upper limb spasticity, Lower limb spa... |
OMIM:613925 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... |
OMIM:617113 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy, Seizure |
OMIM:614706 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Delayed menarche,... |
ORPHA:52901 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... |
ORPHA:263516 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Poor eye contact, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebel... |
OMIM:618237 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Gait ataxia... |
OMIM:213200 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure |
OMIM:612016 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... |
OMIM:616139 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Status epilepticus, Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Bi... |
ORPHA:529665 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure |
OMIM:614322 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Cerebellar... |
OMIM:614860 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure |
OMIM:615705 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hyp... |
ORPHA:98763 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Bilateral tonic-clon... |
OMIM:204200 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar at... |
ORPHA:488635 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia |
OMIM:607458 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... |
ORPHA:101071 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure |
ORPHA:163721 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Cerebellar hypoplasia, Hypogonadism, Dystonia, Central hypothyroidism |
OMIM:616113 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Hypogonadotropic hypogonadism, Athetosis, Tetraparesis, Cerebellar atrophy, Cryptorchidis... |
OMIM:619310 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... |
OMIM:210000 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Ataxia, Cerebellar atrophy, Seizure |
OMIM:600143 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Hyperactivity... |
ORPHA:248111 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... |
OMIM:619028 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ataxia, Cerebellar vermis atrophy, Multifocal seizures, Dysmetria, Intention tremor, Babinski sig... |
OMIM:618170 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Bilateral tonic-clonic seizure, Cerebellar atrophy |
OMIM:608278 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... |
OMIM:616127 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Mental deteriorati... |
OMIM:607616 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Hypoplasia of the pons, Tetrapare... |
OMIM:618276 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, At... |
OMIM:605361 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Hydrocephalus, Neonatal hypotonia, Cryptorchidism, Micropenis... |
ORPHA:8 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... |
OMIM:616531 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... |
OMIM:616948 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:254800 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... |
ORPHA:71517 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Folate Malabsorption, Hereditary |
|
Ataxia, Irritability, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive meg... |
OMIM:229050 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... |
ORPHA:423275 |
Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... |
OMIM:614018 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... |
OMIM:616053 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Cerebellar atrophy, Seizure, Lower limb spa... |
OMIM:619389 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gait d... |
OMIM:614561 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... |
ORPHA:98773 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior |
OMIM:618010 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar a... |
OMIM:617435 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Infertility, Impaired vibration sensation at ankles, Ataxia, Reduced sperm moti... |
ORPHA:320391 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Bilateral tonic-clonic seizure with generalized onset, General... |
ORPHA:352582 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Lissencephaly 10 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... |
OMIM:618873 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
Myoclonic Epilepsy Of Infancy |
|
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:86909 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Abnormal cerebellum morphology, Bilateral tonic-clonic s... |
ORPHA:101070 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Trimethylaminuria |
|
Depression, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... |
OMIM:619157 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Bilateral tonic-clonic seizur... |
ORPHA:457240 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... |
OMIM:613855 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... |
ORPHA:401820 |
Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy, Dysphagia |
OMIM:617916 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... |
ORPHA:139485 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Progressive cerebellar ataxia, ... |
ORPHA:98 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, Cerebella... |
OMIM:618730 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Cer... |
OMIM:301020 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Myoclonu... |
ORPHA:251347 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... |
OMIM:617225 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, Azoospermia |
OMIM:613724 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy, Dysphagia |
OMIM:618369 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619191 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Generalized hypotonia, Cerebellar hypop... |
OMIM:618060 |
Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Landau-Kleffner Syndrome |
|
Atypical absence seizure, Focal motor seizure, Bilateral tonic-clonic seizure with generalized on... |
ORPHA:98818 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Chorea, Memory impairm... |
ORPHA:401901 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Olivopontocerebellar atrophy, Chorea, Tr... |
OMIM:164500 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Aplasia of the infe... |
OMIM:610185 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Typical absence seizure, Ataxia, Cortical myoclonus, Hyperactivity, Inability t... |
ORPHA:168491 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Epileptic spasm, Attention deficit h... |
OMIM:619971 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Truncal... |
OMIM:224050 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Abnormal cerebellar vermis morphology, Rigidity, Cerebellar hypoplasia, Tremo... |
ORPHA:33445 |
Foxg1 Syndrome |
|
Motor stereotypy, Status epilepticus, Inability to walk, Decreased body weight, Poor eye contact,... |
ORPHA:561854 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Infantile spasms, Generalized m... |
OMIM:619701 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:382 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Intention tremor, Hypogonadotropic hypogonadism, Gait ataxia, Sp... |
OMIM:215470 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Abnormality of extrapyramidal motor function, Abnormal pyramidal s... |
OMIM:617672 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Neutropenia, Dysmetria, Impaired vibration sensation in the lower lim... |
OMIM:159550 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:615942 |
Crome Syndrome |
|
Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait, Dysphagia |
ORPHA:284271 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:208441 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia |
OMIM:612438 |
Perrault Syndrome 1 |
|
Ataxia, Intention tremor, Spastic diplegia, Primary amenorrhea, Gonadal dysgenesis, Gait ataxia, ... |
OMIM:233400 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Cerebellar at... |
OMIM:254900 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... |
ORPHA:36387 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Cerebellar atrophy |
OMIM:617915 |
Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetria, Inability to walk, D... |
ORPHA:228360 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia |
OMIM:300660 |
Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Bilateral tonic-clo... |
OMIM:602481 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Loss of ambulation, Dysmetria, Hypogonadotropic hypogonadism, Babinski sign, Tremor, Spas... |
OMIM:607694 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Loss of ambulation, Cerebellar vermis atrophy, Progressive spastic quadriplegia, Progressive extr... |
ORPHA:329308 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypotonia |
ORPHA:494526 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... |
OMIM:619317 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... |
OMIM:605407 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... |
ORPHA:66624 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Sulfite Oxidase Deficiency, Isolated |
|
Hemiplegia, Hypertonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis, Bilateral tonic-clonic se... |
OMIM:272300 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gener... |
OMIM:600224 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... |
OMIM:619862 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Ataxia, Difficulty walking, Cerebellar atrophy, Premature ovarian insufficiency |
OMIM:619425 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Ataxia, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity... |
OMIM:308700 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Cerebellar atrophy, Seizure |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 44 |
|
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia |
OMIM:617132 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Rare Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:101685 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia |
OMIM:125370 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypot... |
OMIM:616921 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... |
OMIM:619738 |
4H Leukodystrophy |
|
Ataxia, Dysmetria, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Tremor, Cerebellar atrophy,... |
ORPHA:289494 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Spasticity, Cerebellar atrophy, Seizure, Dysphagia |
OMIM:617086 |
Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Parkinsonism, Cog... |
OMIM:607454 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Glutathione Synthetase Deficiency |
|
Intention tremor, Ataxia, Hemolytic anemia, Neutropenia |
OMIM:266130 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Nonprogressive cerebellar ... |
ORPHA:453521 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Dysmetria, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dysphagia, Dystonia |
OMIM:618088 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Developmental And Epileptic Encephalopathy 102 |
|
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... |
OMIM:619881 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... |
OMIM:117360 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Failure to thrive, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy, Seizure, Dystonia |
OMIM:617954 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... |
OMIM:229070 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Distal sensory impairment, Cerebellar atrophy, Seizure, Steppage gait |
OMIM:607250 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... |
ORPHA:100988 |
Neurodegeneration With Brain Iron Accumulation |
|
Rigidity, Chorea, Spasticity, Cerebellar atrophy, Dystonia, Abnormality of extrapyramidal motor f... |
ORPHA:385 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Focal impaired awareness se... |
OMIM:619580 |
Pyridoxine-Dependent Epilepsy |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia |
OMIM:615483 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Infertility, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb d... |
OMIM:614409 |
Huntington Disease |
|
Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar atrophy, Seizure |
OMIM:143100 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... |
ORPHA:79264 |
48,Xxyy Syndrome |
|
Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Hypergonad... |
ORPHA:10 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Progressive cerebellar ataxia, Dysmetria, Increased LDL cholesterol concentration, Dysdia... |
OMIM:277460 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Dystonia |
OMIM:617557 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Autosomal Spastic Paraplegia Type 58 |
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Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Spinocerebellar Ataxia Type 29 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Lymphopenia, Neutropenia |
OMIM:614868 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... |
ORPHA:1170 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Status epilepticus, Loss of ambulation, Ataxia, Clumsiness, Poor eye contact, Hypergonadotropic h... |
OMIM:271245 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Bilateral tonic-clonic seizure, Infantile spasms, Seizure |
ORPHA:250972 |
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