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Gene: Ube3a MGI:105098

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Gene Summary

Name:
ubiquitin protein ligase E3A
Synonyms:
5830462N02Rik,  A130086L21Rik,  E6-AP ubiquitin protein ligase,  Hpve6a

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Ube3aem1(IMPC)Hmgu HOM   Early adult 3.69×10-05
abnormal seminal vesicle morphology Ube3aem1(IMPC)Hmgu HOM Early adult 0.00
hypoactivity Ube3aem1(IMPC)Hmgu HET   Early adult 4.14×10-08
decreased food intake Ube3aem1(IMPC)Hmgu HET Early adult 9.80×10-06
decreased prepulse inhibition Ube3aem1(IMPC)Hmgu HET   Early adult 8.45×10-06
decreased vertical activity Ube3aem1(IMPC)Hmgu HOM Early adult 7.28×10-13
decreased respiratory quotient Ube3aem1(IMPC)Hmgu HOM Early adult 1.57×10-06
decreased food intake Ube3aem1(IMPC)Hmgu HOM Early adult 6.40×10-06
decreased respiratory quotient Ube3aem1(IMPC)Hmgu HET Early adult 9.38×10-07
hypoactivity Ube3aem1(IMPC)Hmgu HOM   Early adult 5.70×10-11
increased hematocrit Ube3aem1(IMPC)Hmgu HET   Early adult 5.41×10-05
decreased bone mineral content Ube3aem1(IMPC)Hmgu HOM Early adult 5.35×10-06
hyperactivity Ube3aem1(IMPC)Hmgu HOM   Early adult 8.12×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Ube3a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ube3a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, ... ORPHA:98795
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Seizure, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity, Cessa... ORPHA:411515
15Q11Q13 Microduplication Syndrome
Ataxia, Attention deficit hyperactivity disorder ORPHA:238446
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Myoclonus, Seizure, Ataxia, Hyperactivity, EEG abnormality, EEG w... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Gait imbalance, Seizure, Ataxia, EEG abnormality, Broad-based gait, Obesity, Seco... ORPHA:411511
Angelman Syndrome
Progressive gait ataxia, Seizure, Hyperactivity, EEG abnormality, Broad-based gait, Obesity, Seco... OMIM:105830

The table below shows human diseases predicted to be associated to Ube3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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