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 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Seizure |
OMIM:618113 |
Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Mental Retardation, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Mental Retardation, Autosomal Dominant 41 |
|
Seizure |
OMIM:616944 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
Mental Retardation, Autosomal Dominant 2 |
|
Seizure |
OMIM:614113 |
Mental Retardation, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Autism, Susceptibility To, X-Linked 6 |
|
Seizure |
OMIM:300872 |
Mental Retardation, X-Linked 88 |
|
Seizure |
OMIM:300852 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
|
Seizure |
OMIM:616887 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
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 |
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 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:22 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures |
OMIM:117100 |
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 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
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 |
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 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
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 |
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 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... |
ORPHA:98818 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuous spike and... |
ORPHA:725 |
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 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Dementia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epi... |
OMIM:254800 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
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 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Irritabilit... |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
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 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, EEG with focal sharp slow ... |
ORPHA:2382 |
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, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Seizure, Spast... |
OMIM:615528 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
ORPHA:36387 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617643 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:86909 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Rigidity, Short stature, Bradykinesia, Tremor, Ataxia, ... |
OMIM:617836 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... |
ORPHA:139426 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, EEG with focal epileptiform discharges, Paresthesia, Bilateral tonic-clon... |
ORPHA:98820 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Rigidity, Falls, Bradykinesia, I... |
OMIM:300423 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety, Cryptorchidism |
OMIM:617796 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... |
OMIM:619565 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Aggressive behavior, ... |
OMIM:619157 |
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 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, Motor deterioration, Anx... |
ORPHA:168491 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Hirsutism, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, ... |
OMIM:300510 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive psychomotor deterioration, Dementia, Photosensitive myoclonic seizure, EEG with focal... |
ORPHA:263516 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG ... |
OMIM:245570 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior,... |
OMIM:271980 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Phosphoserine Phosphatase Deficiency |
|
Seizure, Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... |
OMIM:619317 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Short stature, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal... |
OMIM:619052 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Myoclonus, L... |
ORPHA:454887 |
Unilateral Focal Polymicrogyria |
|
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... |
ORPHA:268947 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... |
ORPHA:1929 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, Apathy, Emotional ... |
ORPHA:275864 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Inability to wa... |
OMIM:617810 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Atte... |
OMIM:619191 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... |
ORPHA:2590 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
Hypermanganesemia With Dystonia 2 |
|
Gait disturbance, Dystonia, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal tonic seizure, A... |
ORPHA:485350 |
Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Cog... |
ORPHA:65683 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:613643 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Ataxia... |
OMIM:618093 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... |
OMIM:611726 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:618117 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Babinski sign, Rigidity, Bradykinesia, Seizure, Hypertonia, Generalized dystonia, Parkinsonism, L... |
OMIM:618824 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:601764 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Dystonia, Paresthesia, Choreoathetosis, Chorea, Aggressive behavior, Seizure, Ataxia, Irritabilit... |
ORPHA:98811 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:101039 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... |
ORPHA:101070 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ata... |
ORPHA:71517 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, EEG with centrotempor... |
ORPHA:1945 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness |
OMIM:618221 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Seizure, ... |
OMIM:300894 |
Episodic Ataxia, Type 9 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus |
OMIM:618924 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Self-injurious behavior, Focal impaired awareness seizure, Leukoencephalopathy, Seizure, Bilatera... |
ORPHA:178469 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Seizure, Ataxia, EEG abnormality, Mental deterioration, Generalized myoclonic... |
OMIM:614706 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Dysgenesis of the basal ganglia, Absent septum pellucid... |
ORPHA:101685 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... |
ORPHA:391411 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Gait disturbance, Babinski sign, Growth delay, Rigidity, Frequent falls, Spastic gait, Lower limb... |
ORPHA:100984 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Abnormal hair morphology, Long penis, Male infertility, Precocious ... |
ORPHA:3000 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Alternating Hemiplegia Of Childhood 1 |
|
Mental deterioration, Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:104290 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
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 |
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 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Focal T2 hyperintense basal ganglia lesion, Focal impaired awareness seizure, B... |
ORPHA:363558 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... |
ORPHA:3006 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Multifocal epileptiform discharges, Abnormal cerebral white matter morphology,... |
OMIM:618596 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Multifocal epilept... |
OMIM:609056 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Aggressiv... |
ORPHA:307 |
Myoclonic-Astatic Epilepsy |
|
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, EEG with ge... |
ORPHA:1942 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Seizure, Hypertonia, Ataxia, Parkinsonism |
OMIM:261640 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Dementia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cognitive impairment, EEG with gene... |
ORPHA:1947 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Dementia, Deep cerebral white matter hyperintensities, Akinetic mutism, Bilater... |
ORPHA:199354 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Hand tremor, Chorea, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generali... |
OMIM:615744 |
Dystonia 16 |
|
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... |
OMIM:612067 |
Perrault Syndrome 3 |
|
Seizure, Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:614129 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Seizure, Resting tremor, Ankle clon... |
ORPHA:363654 |
Lafora Disease |
|
Lafora bodies, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure with foc... |
ORPHA:501 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Cerebellar atrophy, Megalencephaly, Progressive neurologic de... |
OMIM:613925 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnor... |
ORPHA:208447 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory ev... |
OMIM:607876 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism |
OMIM:618317 |
Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Seizure, Ataxia... |
OMIM:607136 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure, Leukoencephalopathy, Ataxia, Difficulty walking, Abnorma... |
OMIM:618242 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Hypoplasia of the uterus |
OMIM:617690 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure |
ORPHA:163721 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Gait disturbance, Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seiz... |
OMIM:618141 |
Developmental And Epileptic Encephalopathy 57 |
|
Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Hypoplasia of the corpus callosum, Atypic... |
OMIM:617771 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Seizure, Hyperactivity, Progressive cerebell... |
ORPHA:248111 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Chorea, Generalized-onset seizure, EEG with spike-wave complexes ... |
ORPHA:79137 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Dementia, Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Emotional lability, Diffuse cerebral at... |
OMIM:615362 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Seizure, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abn... |
OMIM:617435 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired a... |
ORPHA:330050 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Hypoplasia of the co... |
ORPHA:488635 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus, Irritability |
OMIM:263550 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Seizure, Ataxia, Difficulty walking, Atonic seizure, Generalized non-motor (absence) s... |
OMIM:614018 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Seizure, Gait ataxia |
OMIM:143100 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Absent pubic hair, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estrad... |
OMIM:614841 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... |
ORPHA:97355 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Familial Infantile Myoclonic Epilepsy |
|
Simple febrile seizure, EEG with focal spike waves, Cerebellar atrophy, Limb myoclonus, Gait dist... |
ORPHA:352582 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... |
ORPHA:13 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Interictal epileptiform activity, Abnormal neuron morphology, Aggressive behavior, ... |
ORPHA:163681 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dystonia, Babinski sign, Chorea, Bradykinesia, Seizure, Atypical absence status... |
ORPHA:225147 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... |
ORPHA:411986 |
Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Seizure, H... |
OMIM:618877 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Bila... |
OMIM:618917 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Foxg1 Syndrome |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Choreoathetosis, Cognitive impairment... |
ORPHA:561854 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Self-injurious behavior, Chorea, Convulsive status epilepticus, Inability to walk, EEG ... |
OMIM:618760 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Bilateral tonic-clonic seizure, Suicidal ideation, Aggres... |
ORPHA:208441 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dementia, Cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Cognitive impairm... |
ORPHA:79264 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... |
OMIM:606693 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure |
OMIM:616281 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Infantile spasms, Hypoplasia of the pons, Myoclonic seizure, Hypsarrhythmia, Thick cerebral corte... |
OMIM:618677 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Cln5 Disease |
|
Seizure, Corpus callosum atrophy, Focal-onset seizure, Anxiety, EEG with spike-wave complexes, Dy... |
ORPHA:228360 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Developmental And Epileptic Encephalopathy 18 |
|
Thick corpus callosum, Generalized-onset seizure, EEG abnormality, Focal-onset seizure, Generaliz... |
OMIM:615476 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Growth delay, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Seizure,... |
ORPHA:70594 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... |
OMIM:617225 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism |
OMIM:128235 |
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 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Periventr... |
OMIM:619616 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Gait disturbance, Dystonia, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar cyst, Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callos... |
ORPHA:79243 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... |
ORPHA:99750 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, EEG with generalized epileptiform discharges, Generaliz... |
ORPHA:35878 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Cognitive impairment, My... |
OMIM:614487 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:618856 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Seizure, Motor deterioration, Abnormal nervous system electrophysiology |
OMIM:601780 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Seizure, ... |
ORPHA:1934 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Myoclonic sei... |
OMIM:619301 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Sparse body hair, Hypogonadotropic hy... |
ORPHA:432 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, EEG abnormality, Cerebral atrophy, Mental deterioration, Generalized ... |
OMIM:610951 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, EEG abnormality, Cerebral atrophy |
OMIM:600143 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Seizure, Generalized myo... |
ORPHA:464282 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Bilateral tonic-clonic seizure |
OMIM:608278 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
Waisman Syndrome |
|
Shuffling gait, Bradykinesia, Cogwheel rigidity, Seizure, Resting tremor, Parkinsonism |
OMIM:311510 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dementia, Dysmetria, Chorea, Cognitive impairment, Bradykinesia, Seizure, EEG a... |
ORPHA:157941 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Generalized... |
OMIM:300558 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Inability to wal... |
ORPHA:93952 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Dementia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment... |
ORPHA:79263 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Chorea, Aggressive ... |
ORPHA:382 |
Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... |
ORPHA:238455 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Abnormal cerebr... |
OMIM:614559 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Seizure, Ataxia, Abnormal cerebral white matter morphology, Unsteady gait, ... |
OMIM:614947 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... |
OMIM:606159 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Abnormal nervous system electrophysiology, Seizure, Ata... |
OMIM:256731 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Severe Canavan Disease |
|
Megalencephaly, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Seizure, Inability... |
ORPHA:314911 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Dystonia, Infantile spasms, Bilateral tonic-clonic seizu... |
OMIM:619302 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Abnormal periventricular white matter morphology, Bilateral tonic-clonic seizur... |
ORPHA:395 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Mental deterioration |
OMIM:616187 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Chorea, EEG with generaliz... |
ORPHA:88616 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Spinocerebellar Ataxia 14 |
|
Dysphagia, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attent... |
OMIM:605361 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... |
OMIM:615157 |
Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Short stature, Torticollis, Myoclonus, Bradykinesia, Seizure, Titubation, Gait ataxia... |
ORPHA:98768 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdi... |
ORPHA:313772 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Small for gestational age, Bilater... |
ORPHA:289266 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism |
ORPHA:412066 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Tonic seizure, EEG with occipital epileptiform discharges, Bilateral tonic-clonic seizure, Infant... |
OMIM:619428 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Bilateral tonic-clonic seizure, N... |
ORPHA:98784 |
Liang-Wang Syndrome |
|
Dystonia, Cerebellar atrophy, Ataxia, Status epilepticus, Cerebral atrophy, Generalized non-motor... |
OMIM:618729 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia |
OMIM:619065 |
Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Seizure, Posterior predominant thick cortex pachygyria, Agyria,... |
ORPHA:95232 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 52 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ata... |
OMIM:617350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... |
OMIM:300055 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Dementia, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Progressive... |
OMIM:254780 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Ataxia, Cerebellar hypoplasia, Cerebral atrophy, Secondary microcephaly, Genera... |
OMIM:613839 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Lack of peer relationships, ... |
ORPHA:96369 |
Estrogen Resistance |
|
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:615363 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Seizure, Status epilepticus, EEG a... |
ORPHA:529665 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure, Anxie... |
OMIM:602066 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Gait disturbance, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... |
ORPHA:289560 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:611634 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Seizure, Hypogonadism |
OMIM:618165 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... |
OMIM:183090 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Seizure, Pachygyria, Bilater... |
OMIM:618730 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia |
OMIM:608747 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
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 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:240071 |
46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... |
ORPHA:243 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Seizure, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Cerebral atrophy, ... |
OMIM:616756 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, ... |
ORPHA:98795 |
Microlissencephaly |
|
Cerebellar atrophy, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Lissencephaly... |
ORPHA:1083 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Huntington Disease |
|
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Rigidity, ... |
ORPHA:399 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... |
ORPHA:251510 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... |
OMIM:613280 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormal hair morphology, Amenorrhea, Hypoplasia of the ovary, Abnormal... |
ORPHA:3130 |
Tempi Syndrome |
|
Polycythemia, Hypoxemia, Increased hematocrit |
ORPHA:284227 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Developmental And Epileptic Encephalopathy 79 |
|
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... |
OMIM:618559 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Parkinson Disease 8, Autosomal Dominant |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607060 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Loss of ambulation, Falls, Progressive gait a... |
ORPHA:329308 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Opisthotonus, Frequent falls, Seizure, Inability to walk, Generalized dystonia,... |
ORPHA:216866 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure, EEG abnormality |
OMIM:300801 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonus, Seizure, Ataxia, Cerebellar... |
OMIM:618876 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Seizure, Anxiety, EEG abnormality, Cerebral dysmyelinati... |
ORPHA:72 |
Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Early onset a... |
ORPHA:79101 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure |
OMIM:618770 |
Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Cerebellar atrophy, Generalized non-motor (absence) seizure |
OMIM:617183 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:614483 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Blepharospasm, Tremor, Hypertonia, Torsion dystonia, Abnormal posturing |
OMIM:128100 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Bilateral tonic-clonic seizure, Cerebellar dysplasia, Self-mutilation, Seizure,... |
ORPHA:457240 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Abnormality of pain sensation, Eating-induced seizure, Ataxia, Generalized-onse... |
ORPHA:544254 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hirsuti... |
ORPHA:247768 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Seizure, Obesity, Gait disturbance |
ORPHA:436141 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradykinesia, Fas... |
ORPHA:98755 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Neuroferritinopathy |
|