Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
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 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
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 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms |
OMIM:619964 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus |
ORPHA:22 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Delayed speech and language development,... |
OMIM:618090 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
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 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Generalized hypotonia, Ataxia, Hypotonia, Tremor |
OMIM:213000 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure |
OMIM:117100 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
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 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... |
ORPHA:280397 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy |
OMIM:616187 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Dysphagia, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic se... |
OMIM:615006 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Hand tremor, Absent speech, Bilateral tonic-clonic seizure, Dysphagia, Cerebellar at... |
OMIM:617862 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyr... |
OMIM:162350 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy |
OMIM:613909 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... |
OMIM:611726 |
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 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Delayed speech and language development, Myoclonus, Choreoathetosis, Limb ... |
OMIM:616230 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:613721 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... |
ORPHA:330050 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... |
OMIM:614322 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Hypogonadism, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babin... |
OMIM:615768 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Delayed speech and language developm... |
OMIM:300423 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616410 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Absent speech, Focal ... |
OMIM:616981 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Migraine, Familial Hemiplegic, 1 |
|
Seizure, Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor, Cerebellar atrophy |
OMIM:141500 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure |
OMIM:615127 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal proprioception, Spasticity, Impaired distal vibration sensation, Seizure, Spastic... |
OMIM:619742 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Cerebellar atrophy,... |
OMIM:610003 |
Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... |
OMIM:619970 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy |
OMIM:617769 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Delayed speech and language development, Myoclonus, Choreoathetosis, Gen... |
OMIM:301020 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... |
OMIM:618924 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... |
OMIM:620103 |
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 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral ... |
OMIM:618093 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, De... |
OMIM:617810 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy |
ORPHA:211017 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Clonic seizure, Absent spee... |
OMIM:619605 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Cerebellar corti... |
ORPHA:171622 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, Delayed speech and language development, Bilateral tonic-clonic seizure with ... |
OMIM:617643 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
X-Linked Intellectual Disability, Hedera Type |
|
Echolalia, Inability to walk, Apraxia, Delayed speech and language development, Gait disturbance,... |
ORPHA:93952 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:604213 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater... |
OMIM:618141 |
Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia, Cerebellar atrophy |
OMIM:619333 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Generalized hypotonia, Broad-based gait, Inte... |
ORPHA:94122 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Delayed speech and language development, Generalized myoclonic seizure, Ataxia, Bilater... |
OMIM:617836 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy |
OMIM:615268 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Dysphagia, Absent speech, Bilateral tonic-clonic seizure, Cerebellar atrophy,... |
OMIM:617493 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Hypotonia, Intention tremor |
OMIM:601238 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive status epil... |
OMIM:617389 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Dysphagia, Cerebellar atrophy, Progressive cerebellar ataxia,... |
OMIM:611694 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Spasticity, Febrile seizure (within the age range of 3 months to 6 years), I... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Seizure, Delayed speech and language development, Upper limb spasticity, Ataxia, Cerebellar atrop... |
OMIM:613925 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Epilepsy, Progressive Myoclonic, 11 |
|
Seizure, Rigidity, Delayed speech and language development, Myoclonus, Ataxia, Cerebellar atrophy... |
OMIM:618876 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Seizure, Delayed speech and language development, Generalized myoclonic seizure, S... |
OMIM:271980 |
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 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Seizure, Ataxia |
OMIM:613402 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Absent speech... |
OMIM:619301 |
Epilepsy, Pyridoxine-Dependent |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Clonic seizure |
OMIM:266100 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Dysphagia, Cerebellar atroph... |
OMIM:302500 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, Focal motor seizure |
OMIM:608105 |
Developmental And Epileptic Encephalopathy 47 |
|
Inability to walk, Focal-onset seizure, Gait disturbance, Limb ataxia, Agitation, Ataxia, Absent ... |
OMIM:617166 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligospermia, Increased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:615703 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... |
OMIM:607317 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Impulsivity, Lower limb spasticity, C... |
OMIM:619028 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Echolalia, Seizure, Impaired social interactions, Truncal ataxia, Delayed speech and language dev... |
OMIM:608636 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Bilateral tonic-cl... |
OMIM:245570 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebella... |
OMIM:617917 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Delayed speech and la... |
ORPHA:284332 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo... |
OMIM:614487 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Seizure, Delayed speech and language development, Ataxia, Cerebellar atrophy, Unstea... |
OMIM:615705 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Status epilepticus... |
OMIM:616645 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Generalized neonatal hypot... |
ORPHA:314978 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... |
OMIM:605021 |
Infantile Cerebellar-Retinal Degeneration |
|
Decreased body weight, Focal-onset seizure, Ataxia, Failure to thrive, Bilateral tonic-clonic sei... |
OMIM:614559 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:613608 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Gait imbalance, Seizure, Cerebellar hypoplasia, Delayed speech and language developm... |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... |
OMIM:617831 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Delayed speech and language development, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:600143 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia, Spastic gait |
OMIM:617133 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... |
ORPHA:101071 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, A... |
ORPHA:79262 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, My... |
ORPHA:313772 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Lissencephaly 3 |
|
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure, ... |
OMIM:611603 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:614706 |
Nescav Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Seizure, Inability to walk, Appendicular spasticity, Delay... |
OMIM:614255 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hydrocephalus... |
OMIM:619302 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Anxiety, Elevated circulating creatine kinase concentration, Focal dystonia, Tremor,... |
ORPHA:309169 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Act... |
OMIM:616540 |
Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Delayed speec... |
OMIM:226750 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... |
OMIM:617916 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dysto... |
OMIM:614860 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... |
ORPHA:363549 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, My... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Generalized hypotonia, Ataxia, Dysmetria, Hypotonia, Cerebel... |
OMIM:608029 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... |
OMIM:617113 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Seizure, Choreoathetosis, Ataxia, Babinski sign, Absent speech, Positive Romberg sign... |
OMIM:618088 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Seizure, Cerebellar hypoplasia, Oculomotor apraxia, Delayed speech and l... |
ORPHA:529665 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... |
ORPHA:725 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Seizure, Inability to walk, Ataxia, Absent speech, Lower limb spastici... |
OMIM:619389 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Seizure, Dy... |
OMIM:614831 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infantile spasms, Epilepti... |
OMIM:616139 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Seizure, Agitation,... |
OMIM:617435 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, General... |
ORPHA:98763 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... |
OMIM:617935 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim... |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
Gordon Holmes Syndrome |
|
Primary amenorrhea, Chorea, Secondary amenorrhea, Ataxia, Hypogonadotropic hypogonadism, Absence ... |
OMIM:212840 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... |
ORPHA:71517 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:616409 |
Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... |
ORPHA:2382 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism, Cerebellar hypoplasia, Ataxia, Dystonia |
OMIM:616113 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Focal impaired awareness seizure, Frequent falls, Steppage gait, Spee... |
ORPHA:98818 |
Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Attention deficit... |
OMIM:605361 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased female libido, Decreased testicular size,... |
ORPHA:52901 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Bilateral Frontoparietal Polymicrogyria |
|
Abnormal pyramidal sign, Gait imbalance, Cerebellar dysplasia, Abnormal cerebellum morphology, Se... |
ORPHA:101070 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor, Hypogonadism |
OMIM:312910 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
Developmental And Epileptic Encephalopathy 109 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Hyperactivity, Typical absence seizure, Crouch gait, ... |
OMIM:620145 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Depression |
OMIM:602079 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure |
ORPHA:163721 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Delayed speech and langu... |
ORPHA:352582 |
47,Xyy Syndrome |
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Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Dysgenesis of the cereb... |
ORPHA:8 |
Spinocerebellar Ataxia Type 21 |
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Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... |
ORPHA:98773 |
Spinocerebellar Ataxia Type 35 |
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Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Spastic Ataxia 2, Autosomal Recessive |
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Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... |
OMIM:611302 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Cerebellar vermis atrophy, Seizure, Ataxia, Babinski sign, Dysmetria, Bilateral tonic-clonic seiz... |
OMIM:618170 |
Encephalopathy Due To Prosaposin Deficiency |
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Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Lichtenstein-Knorr Syndrome |
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Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Appendicular ... |
OMIM:616127 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Poor fine motor coordination, Chorea, Spasticity, Generalized-onset seizure, Seizure, Myoclonic s... |
ORPHA:79263 |
Folate Malabsorption, Hereditary |
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Leukopenia, Neutropenia, Ataxia, Athetosis, Thrombocytopenia, Irritability, Folate-responsive meg... |
OMIM:229050 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... |
OMIM:618587 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure |
OMIM:254800 |
Autosomal Recessive Spastic Paraplegia Type 46 |
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Impaired vibration sensation at ankles, Abnormal pyramidal sign, Decreased testicular size, Trunc... |
ORPHA:320391 |
Epilepsy, Progressive Myoclonic, 12 |
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Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Depression, Mental deterior... |
OMIM:619191 |
Leukodystrophy, Hypomyelinating, 21 |
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Ataxia, Hypogonadotropic hypogonadism, Tetraparesis, Cryptorchidism, Cerebellar atrophy, Athetosi... |
OMIM:619310 |
Developmental And Epileptic Encephalopathy 59 |
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Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness sei... |
OMIM:617904 |
Intellectual Developmental Disorder, X-Linked 1 |
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Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxie... |
ORPHA:401901 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
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Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Seizure, Dysdiadochokinesis, Cer... |
OMIM:224050 |
Epilepsy, Progressive Myoclonic, 6 |
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Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... |
OMIM:614018 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Spastic tetraplegia, Failure to thrive, Bilateral tonic-clonic seizure, Cerebellar atrophy, Dystonia |
OMIM:618237 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Chorea, Delayed speech and language development, Torticollis, Ataxia, Bilateral tonic-clonic seiz... |
OMIM:618425 |
Young Syndrome |
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Azoospermia |
OMIM:279000 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Familial Focal Epilepsy With Variable Foci |
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Focal-onset seizure, Deja vu aura, Focal aware seizure, Simple febrile seizure, Bilateral tonic-c... |
ORPHA:98820 |
Mast Syndrome |
|
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... |
OMIM:248900 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje... |
OMIM:616795 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:618387 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Seizure, Inability to walk, P... |
OMIM:617672 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl... |
OMIM:616531 |
Peho-Like Syndrome |
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Myoclonus, Status epilepticus, Absent speech, Bilateral tonic-clonic seizure, Cerebellar atrophy |
OMIM:617507 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Sulfite Oxidase Deficiency, Isolated |
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Cerebellar hypoplasia, Choreoathetosis, Hemiplegia, Ataxia, Agitation, Absent speech, Bilateral t... |
OMIM:272300 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
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Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
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Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Delaye... |
OMIM:610185 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Autosomal Dominant Cerebellar Ataxia |
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Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Progressive spastic paraplegia, Spastic gait, Babinski sign, Aplasia/Hypoplasia of the cerebellar... |
ORPHA:401820 |
Episodic Ataxia With Slurred Speech |
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Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Spermatogenic Failure 15 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Coenzyme Q10 Deficiency, Primary, 4 |
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Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... |
OMIM:612016 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
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Gait ataxia, Spasticity, Abnormal pyramidal sign, Impotence, Abnormal cerebellum morphology, Impa... |
ORPHA:98 |
Lissencephaly 10 |
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Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Dysmetria, ... |
OMIM:615386 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Dysphagi... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
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Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar a... |
ORPHA:139485 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment, Anemia |
OMIM:238700 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Cerebell... |
OMIM:604326 |
Cln5 Disease |
|
Spasticity, Hyperactivity, Generalized-onset seizure, Seizure, Dysdiadochokinesis, Inability to w... |
ORPHA:228360 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Developmental And Epileptic Encephalopathy 99 |
|
Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Seizure, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Ataxia, Attent... |
OMIM:619971 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Seizure, Delayed speech and language development, Upper limb spasticity, Ga... |
ORPHA:457240 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy |
OMIM:616494 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Seizure, Spastic tetraplegia, Hypertonia, Cerebellar atrophy, Bilateral tonic-clonic seizure with... |
OMIM:618730 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Pancytope... |
OMIM:159550 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... |
OMIM:617225 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Seizure,... |
OMIM:213600 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor |
OMIM:613724 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Dysphagia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Seizure, Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, B... |
ORPHA:284324 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb t... |
OMIM:256731 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Spasticity, Seizure, Inability to walk, Absent speech, Dysphagia, Cerebellar atrophy, Epileptic s... |
OMIM:617086 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus, Absent speech, Tonic seizure, Hypoplasia of the pons, Atonic seizure, Focal impaired a... |
OMIM:615859 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:619157 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6... |
ORPHA:512260 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclon... |
ORPHA:382 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... |
ORPHA:251347 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... |
ORPHA:86909 |
Behr Syndrome |
|
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... |
OMIM:210000 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Seizure, Inability to walk, Cerebellar hypoplasia, Delayed speech and language development, Ataxi... |
OMIM:619556 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Babinski sig... |
OMIM:607565 |
Chorea, Benign Hereditary |
|
Chorea, Dementia, Anxiety |
OMIM:118700 |
Huntington Disease-Like 2 |
|
Chorea, Inertia, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical deme... |
OMIM:606438 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Sandhoff Disease, Juvenile Form |
|
Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait disturbance,... |
ORPHA:309162 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Spasticity, Hyperactivity, Typical absence seizure, Seizur... |
ORPHA:168491 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Seizure, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Loss of ambulatio... |
OMIM:607694 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Impaired social interactions, Ataxia, Tremor, Cerebellar atrophy, Action tr... |
OMIM:619738 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Seizure, Inability to walk, Ataxia, Absent speech, Failure to thrive, Dysmetria, Cere... |
OMIM:617954 |
Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive... |
OMIM:617106 |
Huntington Disease-Like 1 |
|
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Restlessness |
OMIM:603218 |
Myoclonus-Dystonia Syndrome |
|
Writer's cramp, Torticollis, Panic attack, Depression, Anxiety, Dystonia, Personality disorder |
ORPHA:36899 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Inability to walk, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, ... |
OMIM:619701 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... |
OMIM:619862 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... |
OMIM:617633 |
Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Seizure, Cerebellar hypoplasia, Rigidity, Abnormal cerebellar vermis morphology, Atax... |
ORPHA:33445 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Decreased circulating gonadotropin concentration, Hypogonadotrop... |
OMIM:215470 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Br... |
OMIM:607136 |
Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Myoclonic seizure, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathetosis, St... |
OMIM:619317 |
Cln3 Disease |
|
Myoclonic seizure, Shuffling gait, Seizure, Focal-onset seizure, Ataxia, Loss of ambulation, Bila... |
ORPHA:228346 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Lower limb spas... |
OMIM:610357 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Cerebellar hypoplasia, Eyelid myoclonus, Oculomotor apraxia, Generalized... |
OMIM:618060 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor |
OMIM:266130 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Elevated circulating luteinizi... |
OMIM:229070 |
Leukodystrophy, Hypomyelinating, 18 |
|
Spasticity, Seizure, Spastic tetraplegia, Progressive spasticity, Delayed speech and language dev... |
OMIM:618404 |
Perrault Syndrome 1 |
|
Gait ataxia, Spastic diplegia, Ataxia, Increased circulating gonadotropin level, Gonadal dysgenes... |
OMIM:233400 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... |
OMIM:614409 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... |
OMIM:618086 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Delayed speech and language developme... |
OMIM:117360 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... |
OMIM:605407 |
Crome Syndrome |
|
Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Cerebellar vermis atrophy, Falls... |
ORPHA:329308 |
4H Leukodystrophy |
|
Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor functio... |
ORPHA:289494 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Akinesia, Postural tremor, Parkinsonism, Abnormality of extrapyramidal motor functio... |
OMIM:607454 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia, Dysphagia, Uns... |
OMIM:614877 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Delayed speech and language development, Progressive cerebellar ataxia, Febri... |
OMIM:618412 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri... |
OMIM:302800 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys... |
OMIM:617691 |
Spinocerebellar Ataxia 50 |
|
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... |
OMIM:620158 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:208441 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Axial hypotonia, Hyperkinetic movements, Unsteady ... |
OMIM:616921 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Apraxia, Premature ovarian insufficiency, Hand tremor, Ataxia, Babinski sign, Cerebel... |
OMIM:615889 |
Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Focal motor seizure, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, T... |
OMIM:602481 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the... |
ORPHA:137898 |
Developmental And Epileptic Encephalopathy 44 |
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Spasticity, Seizure, Absent speech, Failure to thrive, Cerebellar atrophy, Athetosis, Dystonia |
OMIM:617132 |
Spinocerebellar Ataxia 5 |
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Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Limb ataxia, Upper motor neuron dysfuncti... |
OMIM:600224 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Immunodeficiency 110 With Lymphoproliferation |
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Neutropenia, Lymphopenia |
OMIM:614868 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Premature ovarian insufficiency, Ataxia, Difficulty walking, Cerebellar atrophy, Amenorrhea |
OMIM:619425 |
Whim Syndrome 2 |
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Chronic neutropenia |
OMIM:619407 |
Alexander Disease Type I |
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Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Cachexia, Hydrocephalus, Ataxia, Fa... |
ORPHA:363717 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
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Myoclonic seizure, Seizure, Inability to walk, Myoclonus, Choreoathetosis, Absent speech, Tonic s... |
OMIM:618497 |
Intellectual Developmental Disorder With Seizures And Language Delay |
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Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Gait ataxia, Myoclonic seizure, Echolalia, Limb hypertonia, Inability to walk, Delayed speech and... |
OMIM:619580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Spastic diplegia, Delayed speech and language development, Myoclonus, Ataxia, Babinski sign, Bila... |
OMIM:619065 |
Spastic Paraplegia 85, Autosomal Recessive |
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Torticollis, Upper limb spasticity, Impaired tactile sensation, Babinski sign, Spastic paraplegia... |
OMIM:619686 |
Pandas |
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Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impuls... |
ORPHA:66624 |
Developmental And Epileptic Encephalopathy 106 |
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Limb hypertonia, Cerebellar hypoplasia, Focal clonic seizure, Absent speech, Tonic seizure, Bilat... |
OMIM:620028 |
Spinocerebellar Ataxia Type 26 |
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Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... |
ORPHA:101112 |
Hyperprolinemia, Type I |
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Hyperactivity, Aggressive behavior, Hyperprolinemia, Ataxia |
OMIM:239500 |
Spinocerebellar Ataxia Type 29 |
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Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Delayed speech an... |
ORPHA:208513 |
Developmental And Epileptic Encephalopathy 91 |
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Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... |
OMIM:617711 |
Leukodystrophy, Hypomyelinating, 6 |
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