Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
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 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
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 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
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 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:22 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
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, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia, Generalized hypotonia, Hypotonia |
OMIM:213000 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures |
OMIM:117100 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia |
OMIM:613909 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Episodic Ataxia, Type 9 |
|
Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Cerebellar edema, Seizure, Clonic seizur... |
OMIM:618924 |
Spinocerebellar Ataxia 37 |
|
Dysphagia, Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Spastic tetraplegia, Ataxia, Inability to walk, Pachygyria, Hypoplasia of the brainstem, Cerebell... |
OMIM:618174 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Fa... |
OMIM:300423 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... |
OMIM:611726 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Ataxia, Tremor, Limb ataxia, Gait... |
OMIM:617018 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617643 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... |
OMIM:615768 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
ORPHA:330050 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Dysphagia, Cerebellar atrophy, Babinski sign, Cachexia, Bilateral tonic-clonic seizure,... |
OMIM:618093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency |
OMIM:615889 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
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 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... |
OMIM:617810 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy |
ORPHA:211017 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... |
ORPHA:171622 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... |
ORPHA:139426 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... |
ORPHA:93952 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:604213 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Seizure, Hemiplegia |
OMIM:141500 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... |
OMIM:618090 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure |
OMIM:616187 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Oligomenorrhea, Infertility, Hypogonadotropic hypogonadism, Ataxia |
OMIM:212840 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Genera... |
ORPHA:94122 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia |
OMIM:619333 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Toni... |
OMIM:618917 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia, Hypotonia |
ORPHA:1397 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Hypoplasi... |
OMIM:619301 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, M... |
OMIM:615771 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... |
OMIM:615703 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Generalized hypotonia, Hypotonia, Unste... |
OMIM:616127 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Gen... |
OMIM:617831 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Dysphagia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial... |
OMIM:611694 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... |
OMIM:611252 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 56 |
|
Attention deficit hyperactivity disorder, Ataxia, Anxiety, Broad-based gait |
OMIM:617665 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic... |
OMIM:245570 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Loss of ability to walk, Generalized hypotonia, Un... |
OMIM:617917 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... |
ORPHA:313772 |
47,Xyy Syndrome |
|
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Dysgenesis of the ... |
ORPHA:8 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... |
OMIM:619302 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Failure to thrive, Poor eye contact, Ataxia, Inability to walk, Tet... |
OMIM:618276 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Cerebellar hypoplasi... |
ORPHA:488635 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615957 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:601764 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o... |
ORPHA:79262 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Cerebellar atrophy, Seizure |
OMIM:613402 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Cerebellar vermis hypoplasia,... |
OMIM:618876 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Seizure, Ataxia, Generalized myoclonic seizure, Cerebellar atrophy |
OMIM:614706 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Tremor, Oculomotor apraxia, Seizur... |
ORPHA:529665 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Cerebellar atrophy, Limb myoclonus, Febrile seizure (within the... |
ORPHA:263516 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Ataxia, Status epilep... |
OMIM:271980 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:117210 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... |
ORPHA:65683 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Gait ataxia |
OMIM:615705 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... |
ORPHA:276193 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... |
OMIM:613925 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Generalized hypo... |
OMIM:608029 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Intention tremor, Ataxia, Action tremor, Neonatal hypotonia |
OMIM:302500 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... |
ORPHA:101110 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic... |
OMIM:616981 |
Behr Syndrome |
|
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:600143 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent falls, Sponta... |
ORPHA:1947 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure, Abnormal pyramidal sign |
OMIM:612016 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:98763 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... |
ORPHA:2382 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... |
OMIM:610245 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Generalized hypotonia, Incoordination, Cerebellar hypoplasia, Spastici... |
OMIM:213200 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure |
OMIM:608278 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Gait disturbance, Hypertriglyceridemia, Elevated circula... |
OMIM:616516 |
Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting... |
ORPHA:71517 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Pr... |
ORPHA:248111 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure |
ORPHA:163721 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebel... |
OMIM:607346 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Central hypothyroidism, Hypogonadism, Ataxia, Cerebellar hypoplasia |
OMIM:616113 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Gait disturbance, Simple febrile seizure, Cerebellar atrophy, Limb myoclonus, Bilater... |
ORPHA:352582 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Seizure, Inability to walk |
OMIM:618468 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Iron accumulation in globus pallidus, Cerebellar vermi... |
OMIM:619389 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Babinski sign, Cerebellar atrophy, Gait ataxia |
OMIM:616192 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-o... |
OMIM:614559 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Dysphagia, Cerebellar atrophy, Dysmetria, Focal dystonia,... |
OMIM:605361 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, Focal impaire... |
ORPHA:98820 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Dysphagia, Cerebellar atrophy, Bradykinesia, Tremor, Seizure, Hypertonia, Ankle clonus,... |
OMIM:617435 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... |
ORPHA:101070 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Cerebellar dysplasia, St... |
ORPHA:457240 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... |
OMIM:611302 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Tremor, Ataxia, Anxiety, Depressi... |
ORPHA:401901 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Pancytopenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, ... |
OMIM:159550 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... |
OMIM:618425 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure |
OMIM:616281 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Aplasia/Hypoplasia of the cerebellar vermis, Lower limb... |
ORPHA:401820 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Cerebellar atro... |
ORPHA:320391 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Seizure, Tongue fasciculations |
OMIM:618170 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Hypertriglyceridemia |
OMIM:618010 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618873 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression |
OMIM:159900 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... |
OMIM:607616 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Seizure, Abnormal... |
ORPHA:139485 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:86909 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysphagia, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity |
OMIM:617916 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Dysphagia, Cerebellar atrophy, Babinski sign, Spastic gai... |
OMIM:616795 |
Nescav Syndrome |
|
Babinski sign, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Inability to walk, Spasticity |
OMIM:614255 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure, Generalized non-... |
OMIM:619157 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... |
ORPHA:412066 |
Chorea, Benign Hereditary |
|
Chorea, Anxiety, Gait disturbance |
OMIM:118700 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Torticollis, Intention tremor, Hypergonadotropic hypogonadism, Head tremor |
OMIM:613724 |
Trimethylaminuria |
|
Anemia, Depression, Neutropenia, Splenomegaly |
OMIM:602079 |
Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... |
ORPHA:385 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis, Seizure, Spastic tetraparesis |
ORPHA:496756 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Dysphagia, Cerebellar atrophy, Babinski sign, Dysmetria, Lower limb spa... |
ORPHA:98 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Frequent falls... |
ORPHA:512260 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Dysphagia, Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilateral tonic-clon... |
ORPHA:329308 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclon... |
ORPHA:79263 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Seizure, Hypertonia, Bilateral tonic-clonic seizure with... |
OMIM:618730 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyra... |
OMIM:617672 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression |
OMIM:606438 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Gait ataxia |
OMIM:618369 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense |
OMIM:608703 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Seizure, Cerebellar hypoplasia, Spasticity, Abnormal cerebe... |
ORPHA:33445 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysphagia, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor... |
OMIM:164500 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Poor eye ... |
ORPHA:561854 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... |
OMIM:610185 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Dilated fourth ventricle, Myoclo... |
ORPHA:251347 |
Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... |
OMIM:220200 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Leukoencephalopathy, Spastic ataxia, Progressive cerebel... |
ORPHA:314603 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:618856 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Cerebellar atrophy, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... |
ORPHA:168491 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Glutathione Synthetase Deficiency |
|
Ataxia, Hemolytic anemia, Neutropenia, Intention tremor |
OMIM:266130 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysphagia, Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxi... |
OMIM:617633 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Dysphagia, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Abnormal cortical gyration, Kinetic tremor, Chorea, Cerebral white mat... |
ORPHA:98756 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Seizure, Dysdiadochokinesis, Truncal ataxia, Cer... |
OMIM:224050 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Seizure, Spasticity |
OMIM:612438 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... |
OMIM:616719 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Cerebellar atrophy, Abnormality of extrapyramidal motor function, ... |
OMIM:301020 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Intention tremor, Generalized-onset se... |
OMIM:254900 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Positive Romberg... |
OMIM:607136 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Bilateral tonic-clonic s... |
ORPHA:98818 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce... |
OMIM:618060 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Partial absence of cerebellar vermis, Focal impaired awareness seizure, Aplasia/Hypoplasia of the... |
ORPHA:137831 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Dysphagia, Cerebellar atrophy, Seizure, Inability to walk, Spasticity |
OMIM:617086 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Seizure, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Crome Syndrome |
|
Cerebellar dysplasia, Renal tubular epithelial necrosis |
OMIM:218900 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... |
OMIM:215470 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:208441 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Spastic tetraplegia, Seizure, Ataxia, Spasticity |
OMIM:617207 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Dysphagia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Spasticity |
OMIM:618088 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... |
ORPHA:228360 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Seizure, Gait ataxia |
OMIM:143100 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking |
OMIM:619425 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia |
OMIM:300660 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Seizure |
OMIM:607250 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Gait disturbance, Dysphagia, Cerebellar atrophy, Babinski sign, Frequent falls, Dysmetria, Hand t... |
OMIM:302800 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Poor motor coordination, Bilateral t... |
ORPHA:79264 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Seizure, Ataxia, Cerebellar atrophy |
OMIM:618879 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus, Muscular hypotonia of the trunk |
ORPHA:494526 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus, Muscular hy... |
OMIM:616921 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Dystonia, Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tetraparesis, Cry... |
OMIM:619310 |
4H Leukodystrophy |
|
Dystonia, Dysphagia, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of... |
ORPHA:289494 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... |
ORPHA:66624 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive, Seizure, Ataxia, Spasticity |
OMIM:617954 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Irritability, Thrombocytopenia, Folate-responsive meg... |
OMIM:229050 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... |
ORPHA:3006 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:609056 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... |
OMIM:615960 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Opisthotonus, Limb hypertonia, Tonic seizure, Choreoathetosis, Bilateral toni... |
OMIM:619580 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
Rare Non-Syndromic Intellectual Disability |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:101685 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Infertility, Knee clonus, Upper limb spa... |
OMIM:614409 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Delayed social development, Intention tremor, Cerebellar vermis at... |
ORPHA:208513 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic para... |
ORPHA:329284 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Dystonia, Gait disturbance, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive... |
OMIM:618404 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Babinski sign, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus,... |
OMIM:619065 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Stereotypy, Tremor, Ataxia, Attention defici... |
ORPHA:10 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Seizure, Ataxia, Inability to walk |
OMIM:617804 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... |
ORPHA:453521 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... |
OMIM:617836 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Hyponatremia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precociou... |
OMIM:300200 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Ataxia, Cerebellar vermis atrophy, Dysdiadochokines... |
OMIM:616204 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... |
ORPHA:137898 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy |
OMIM:610951 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Torticollis, Spasti... |
ORPHA:397946 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... |
OMIM:619054 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizur... |
ORPHA:178469 |
Pontocerebellar Hypoplasia, Type 2D |
|
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure |
OMIM:613811 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia |
OMIM:239500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Dystonia, Neutropenia, Choreoathetosis, Chorea, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... |
OMIM:618317 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Huntington Disease-Like 1 |
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Dementia, Dysmetria, Chorea, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Oligospermia, Cryptorchidism |
OMIM:314300 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Dystonia, Babinski sign, Cerebellar atrophy, Shyness, Spastic dysarthria, Stereotypy, Seizure, Wa... |
ORPHA:280763 |
Systemic Primary Carnitine Deficiency |
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Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
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Tremor, Spastic paraplegia |
OMIM:309560 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... |
ORPHA:1170 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Gabriele-De Vries Syndrome |
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Tremor, Dystonia, Cryptorchidism, Waddling gait |
OMIM:617557 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
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