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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 vertical activity Ube3aem1(IMPC)Hmgu HOM Early adult 7.28×10-13
decreased respiratory quotient Ube3aem1(IMPC)Hmgu HET Early adult 1.05×10-06
increased hematocrit Ube3aem1(IMPC)Hmgu HET   Early adult 4.31×10-05
abnormal seminal vesicle morphology Ube3aem1(IMPC)Hmgu HOM Early adult 0.00
hyperactivity Ube3aem1(IMPC)Hmgu HOM   Early adult 8.12×10-07
decreased bone mineral content Ube3aem1(IMPC)Hmgu HOM Early adult 7.19×10-06
decreased food intake Ube3aem1(IMPC)Hmgu HOM Early adult 6.40×10-06
decreased food intake Ube3aem1(IMPC)Hmgu HET Early adult 9.80×10-06
decreased locomotor activity Ube3aem1(IMPC)Hmgu HOM   Early adult 5.70×10-11
decreased respiratory quotient Ube3aem1(IMPC)Hmgu HOM Early adult 1.40×10-06
decreased exploration in new environment Ube3aem1(IMPC)Hmgu HOM   Early adult 1.11×10-05
decreased locomotor activity Ube3aem1(IMPC)Hmgu HET   Early adult 2.64×10-06

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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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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
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
15Q11Q13 Microduplication Syndrome
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors ORPHA:238446
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Broad-based gait, Ataxia, Obesity, Seizure, EEG abnormality ORPHA:411515
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Obesity, Se... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Obesity, EEG abnormality, Seizure, Gait imbalance ORPHA:411511
Angelman Syndrome
Broad-based gait, Ataxia, Obesity, EEG abnormality, Progressive gait ataxia, Seizure OMIM:105830

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Loss of ambulati... OMIM:614018
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG abnormality, Irritability, Focal impaired... OMIM:610003
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, EEG with generalized epileptiform dis... OMIM:616187
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, EEG abnormali... ORPHA:2382
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, EEG wit... OMIM:616230
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia, ... OMIM:617836
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Generalized clonic seizure... OMIM:607208
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atte... OMIM:617113
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Focal motor seizure, Generalized non... OMIM:617665
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Abnormal cerebellum morphology, Myoclonic seizure, Depres... OMIM:162350
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... OMIM:619565
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Short stature, Spastic tetraparesis, Hemidystonia, Abnormal pyramidal sign, Bradykinesia, Spastic... OMIM:619052
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, Typical absen... OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Ataxia, Focal-onset seizure, Gait ... OMIM:615362
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Photosensitive tonic-clonic seizur... ORPHA:86909
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, ... OMIM:618824
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Dyst... OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... OMIM:204300
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (abs... OMIM:617810
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... ORPHA:71517
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines... OMIM:300423
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hypertonia OMIM:614023
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Hypsarrh... OMIM:616409
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Myoclonic-Atonic Epilepsy
Ataxia, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... OMIM:616421
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... OMIM:213600
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, EEG with generalized polyspikes, Seizu... OMIM:614706
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Parkinsonism, Rigidity, Focal mo... OMIM:619911
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, EEG with generalized slow activity grade 4, Ataxia,... ORPHA:168491
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... ORPHA:454887
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cachexia, Chorea, Dysmetria, Gait ata... OMIM:618093
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Spinocerebellar Ataxia Type 12
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... ORPHA:98762
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:271980
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, Truncal ataxia OMIM:608636
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Growth delay, Bradykinesia, Lower limb hypertonia... ORPHA:100984
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Irritability... OMIM:609056
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Benign Familial Neonatal-Infantile Seizures
Episodic ataxia, Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clon... ORPHA:140927
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Generalized non-motor (absence) seizure, Choreoathetosis, Seizure, Irritability, ... ORPHA:98811
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Short attention span, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG w... ORPHA:163721
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Lafora Disease
Ataxia, Confusion, Hypsarrhythmia, Focal sensory seizure with visual features, Seizure, Depressio... ORPHA:501
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene... ORPHA:1929
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Parkinson Disease 22, Autosomal Dominant
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:616710
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis ORPHA:329284
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Oculogyric crisis, Bradykinesia, Hypertonia, Dystonia, Limb hypertonia OMIM:617384
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, Bradykinesi... OMIM:607136
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... OMIM:618317
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure OMIM:143100
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Seizure, Bradykinesia, Dystoni... ORPHA:70594
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, Generalized non-motor (a... ORPHA:485350
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... ORPHA:238455
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:248111
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Generalized-onset seizure, Generalized non-motor (absen... ORPHA:35878
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... ORPHA:3006
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Abnormal fear-induced behavior, Seizure, Focal impaired awareness... ORPHA:208441
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular gener... OMIM:607876
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto... OMIM:261640
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Head titubation, Tremor, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Se... OMIM:618877
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, Focal impaired ... OMIM:617435
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... OMIM:617166
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Dominant 5
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Dysplastic corpus callosum, Unsteady g... OMIM:620317
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Brad... ORPHA:13
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Inability to walk, Multifocal epileptiform discharges, ... ORPHA:411986
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Lissencephaly 3
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Seizure, Agenesis of corpus... OMIM:611603
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EE... OMIM:617106
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ataxia, Generalized non-motor (absence) seizure, Difficulty walking OMIM:618242
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Abnormal cerebellum morphology, Seizur... OMIM:204200
Huntington Disease-Like 1
Chorea, Dysmetria, Gait ataxia, Bradykinesia, EEG abnormality, Seizure, Dementia, Gait disturbanc... ORPHA:157941
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Seizu... ORPHA:330050
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Parkinsonism wi... OMIM:311510
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Spastic paraparesis, Oromandibular dystonia OMIM:615643
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Abnormal nervous system electrophysiology, Motor deterioration OMIM:601780
Hyperprolinemia Type 2
Early onset absence seizures, Short attention span, Generalized-onset seizure, Confusion, Dysesth... ORPHA:79101
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE... OMIM:617976
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Hemiparesis, Seizure, Bradykinesi... OMIM:601338
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Seizure, Apraxia, Spasticity OMIM:221820
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Cho... OMIM:606159
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia OMIM:617862
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal choreoathetosis, Nor... OMIM:602066
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Frontotemporal dementia, Irritability, Gait disturbance, EEG with... ORPHA:275864
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, EEG abnormality, Mental deterioration OMIM:610951
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-... OMIM:618170
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Lipoid Proteinosis Of Urbach And Wiethe
Memory impairment, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa... ORPHA:561854
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Seiz... OMIM:603516
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decre... OMIM:614559
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Dysmetria, Seizure, Abnormal nervous system electrophysiology, Dysdia... OMIM:256731
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Cln3 Disease
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Loss of ambulati... ORPHA:228346
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... OMIM:617105
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Spinocerebellar Ataxia Type 13
Torticollis, Short stature, Limb ataxia, Titubation, Gait ataxia, Seizure, Clumsiness, Bradykines... ORPHA:98768
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Startle-induced seizure, Ataxia, Infantile spasms, Hypoplasia of th... ORPHA:467166
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadoch... OMIM:614487
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Confusio... ORPHA:363558
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617600
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Cerebellar atrophy, EEG with focal spike waves, Bilateral tonic-cloni... ORPHA:352582
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis OMIM:300894
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Depression, Seizu... ORPHA:79264
Tempi Syndrome
Hypoxemia, Increased hematocrit, Polycythemia ORPHA:284227
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizu... OMIM:618012
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Spinocerebellar Ataxia 2
Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gai... ORPHA:1947
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Abnorma... ORPHA:163681
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Multifocal epilepti... OMIM:617493
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy... ORPHA:93952
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Perrault Syndrome 5
Seizure, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:616138
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Den Hoed-De Boer-Voisin Syndrome
Short attention span, EEG with focal spike waves, Ataxia, Generalized clonic seizure, Overweight,... OMIM:619229
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Cerebellar atrophy, Generalized-onset seizure, Ataxia, Chorea, Unstea... ORPHA:79263
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ... OMIM:619854
Invasive Mole
Menometrorrhagia ORPHA:99925
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh... OMIM:615859
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Irritability, Dement... ORPHA:199354
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Gait disturbance, Obesity ORPHA:436141
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, EEG abnormality, Dysdiadoc... ORPHA:313772
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism, Seizure OMIM:300062
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... ORPHA:247768
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for gestational age, Inability to... ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset se... OMIM:618917
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, EEG abnormality, Seiz... ORPHA:529665
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gener... ORPHA:395
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Dysmetria,... ORPHA:254881
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Ataxia, Choreoathetosis, Seizure, Colpocephaly, Failure to thrive, Myoclonic ... OMIM:616034
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Seckel Syndrome 7
Hypoplasia of the uterus, Seizure, Primary amenorrhea, Central hypothyroidism OMIM:614851
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Focal-onset seizure, Inability to walk, Un... ORPHA:228360
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, ... ORPHA:289560
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Inability to walk, EEG abnormality, Convulsive status epilepticus OMIM:618760
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... OMIM:617854
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... OMIM:619827
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Irritability, Failure to thrive, Bilateral tonic-clonic seizure OMIM:618237
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Attention deficit hyperactiv... ORPHA:64280
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus OMIM:617507
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure, Failu... OMIM:617201
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Failure to t... OMIM:604317
Hypermanganesemia With Dystonia 2
Limb dystonia, Generalized dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthoto... OMIM:617013
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Bilateral tonic-clonic seizure with generalized onset, ... OMIM:619028
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:300558
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... ORPHA:399
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Irritability, Lethargy ORPHA:314911
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Machado-Joseph Disease
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... OMIM:109150
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Liang-Wang Syndrome
Cerebellar atrophy, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:227510
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo... OMIM:617290
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Harel-Yoon Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Generalized non-motor (absence) seizure OMIM:617183
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Cognitive impairment, Attention defic... ORPHA:216866
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity OMIM:616521
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Seizure, Hypogonad... ORPHA:91351
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Tonic seizure, Inability to walk, Chorea, Generalized non-motor (abse... OMIM:300260
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Gait disturbance, Eating-induced seizure, Abnormality of pain ... ORPHA:544254
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Obesity, Seizure, Difficult... ORPHA:464282
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
15Q11Q13 Microduplication Syndrome
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors ORPHA:238446
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity, Seizure, Generalized myoclon... OMIM:616756
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Generali... ORPHA:1934
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex febrile seizure, Focal ... ORPHA:31709
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Multifocal... OMIM:615398
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Broad-based gait, Ataxia, Obesity, Seizure, EEG abnormality ORPHA:411515
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign... ORPHA:98808
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Dysmetria, Gait ataxia, Bradykinesia, Poor fine mo... OMIM:300623
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Focal impaired awareness hem... OMIM:620149
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia... ORPHA:171695
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, S... OMIM:616672
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... ORPHA:254886
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... OMIM:618067
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Involuntary movements, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Chor... OMIM:612164
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Hernández-Aguirre Negrete Syndrome
EEG abnormality, Seizure, Obesity ORPHA:2139
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressive ... ORPHA:329308
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia... OMIM:619580
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... OMIM:610042
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Overweight, Depression, Seizure, Gait disturbance, Cerebellar dys... ORPHA:457240
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder ORPHA:576283
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Generalized-onset seizure, Unsteady gait, Focal motor seizure, EEG with gener... ORPHA:98761
Ring Chromosome 21 Syndrome
Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Azoospermia, Seizu... ORPHA:1445
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... ORPHA:209370
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Cere... OMIM:272300
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic gait, Dysmetria, Gait ataxia OMIM:615031
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Seizure, Attention deficit hyperactivity disorder OMIM:620065
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,... ORPHA:95232
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dystonia OMIM:168601
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Dysdiadochokinesis, Hyperto... OMIM:610217
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, EEG abnor... OMIM:617798
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Focal motor seizure, Dysmetria, Ga... OMIM:602481
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dystonia, Spasticity ORPHA:98760
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... ORPHA:306682
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms,... ORPHA:544503
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... ORPHA:91131
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168605
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childh... OMIM:620224
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia ORPHA:240094
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Truncal ataxia, Limb ataxia, Gait ataxia, Bradykinesia, Dy... OMIM:258450
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypo... ORPHA:110
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Dpm1-Cdg
Cerebellar atrophy, Early onset absence seizures, Ataxia, Seizure, Pontocerebellar atrophy, Abnor... ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination ORPHA:171442
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Tay-Sachs Disease
Cerebellar atrophy, Short attention span, Inability to walk, Typical absence seizure, Dysmetria, ... ORPHA:845
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Generalized non-motor (a... OMIM:300912
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypsarrhyt... OMIM:619877
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Cachexia, Fatigable weakness, Fatigable weakness of neck ... ORPHA:42
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Depression, Seizure, Irritabil... ORPHA:96147
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Microduplication Xp11.22P11.23 Syndrome
Seizure, EEG with centrotemporal focal spike waves, Obesity ORPHA:217377
Angelman Syndrome
Broad-based gait, Ataxia, Infantile spasms, Inability to walk, Obesity, EEG abnormality, Seizure,... ORPHA:72
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, EEG with abnormally slow frequencies, Dystonic gait, Titubation, Athetosis, Difficulty wa... ORPHA:280219
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Seizure, Micropenis OMIM:244200
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls ORPHA:75567
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... OMIM:604360
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... ORPHA:3464
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... ORPHA:309246
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy, Bilateral tonic-clonic seizure OMIM:618165
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Dysmetria, Gait ataxia, Impaired tandem gait, Lim... OMIM:117360
Mehmo Syndrome
Small for gestational age, Inability to walk, Obesity, Gait ataxia, Seizure, Difficulty walking OMIM:300148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclo... ORPHA:268940
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Seizure, Obesity, Attention deficit hyperactivity disorder OMIM:618725
Childhood-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Clumsiness ORPHA:171439
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Lateral ventricle ... OMIM:615716
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Lethargy, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Seizure, Decreased fertility in males, Delayed ... ORPHA:2965
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Small for gestational age, Infantile spasms, Inability to walk, Chorea, Gener... ORPHA:404454
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Seizure, Gait disturbance, Increased body weight, Attention deficit hyperactivity disorder ORPHA:589905
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia, Dystonia ORPHA:683
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:615802
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Overweight, Seizure, Difficulty walking ORPHA:280763
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Hypoesthesia, Dysplastic corpus callosum... OMIM:619737
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Irritability, Difficulty walk... ORPHA:481152
Autism, Susceptibility To, X-Linked 6
Seizure, Obesity OMIM:300872
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Seizure, Decreased ... ORPHA:330015
Intellectual Developmental Disorder, Autosomal Recessive 46
Seizure, Ataxia, Large for gestational age OMIM:616116
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Bilateral tonic-clonic seizure, Inability to walk, Dysmetria... OMIM:617988
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Status epilepticus, Attention deficit hyper... OMIM:615538
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment ORPHA:459033
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Pontoce... ORPHA:258
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Bilateral tonic-clonic seizure OMIM:540000
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Bilateral tonic-clonic seizure, Small for gestational age, Multifocal epilept... ORPHA:453510
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile... ORPHA:171680
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Ataxia, Narcolepsy OMIM:604121
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... OMIM:619983
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... ORPHA:1809
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... ORPHA:228402
Kufor-Rakeb Syndrome
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Upper motor neuron dysfunction, Babins... ORPHA:306674
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the... OMIM:618325
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable respo... ORPHA:411602
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generaliz... ORPHA:369837
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... OMIM:602668
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Nephronophthisis 15
Seizure, Cerebellar vermis hypoplasia, Obesity OMIM:614845
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Dystonia, Spasticity ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Babinski sign, Bradykinesia, Seizure, Dystonia OMIM:614924
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Obesity, Se... ORPHA:98794
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... OMIM:618143
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Emotional lability, Seizure... ORPHA:2822
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Oligozoospermia, Hypogon... ORPHA:2067
Rett Syndrome
Bradykinesia, Seizure, Limb apraxia, Dystonia ORPHA:778
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Melas
Short attention span, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, EE... ORPHA:550
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Abnormal posturing OMIM:614857
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Generalized non-motor (absence) seizure ORPHA:363686
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Retrocerebellar... ORPHA:364028
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis, Reduced hematocrit ORPHA:79126
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis, Cerebellar hypopl... OMIM:619435
Idiopathic Intracranial Hypertension
Obesity, Depression, Focal sensory seizure with olfactory features, Abnormal emotion, Lethargy ORPHA:238624
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment OMIM:616267
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Progressive neurologic deterioration, Chorea, Focal motor... ORPHA:2131
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... OMIM:618124
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Seizure, High anterior hairline, Hirsutism OMIM:616831
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Focal clonic seizure, Myoclonus, Status ... OMIM:220120
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Dysp... OMIM:617281
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Intention tremor ORPHA:93256
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, B... OMIM:234200
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Seizure, Bradykinesia, ... ORPHA:254892
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Baralle-Macken Syndrome
Inability to walk, Focal-onset seizure, Obesity OMIM:619255
Insulinoma
Increased body weight, Seizure, Transient global amnesia, Paresthesia, Abnormality of pain sensat... ORPHA:97279
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia OMIM:271900
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure OMIM:612337
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric... OMIM:277590
Morgagni-Stewart-Morel Syndrome
Obesity, Depression, Seizure, Cognitive impairment, Memory impairment ORPHA:77296
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... OMIM:600955
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Paucity of anterior ho... ORPHA:79139
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Inability ... OMIM:617799
14Q11.2 Microduplication Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder ORPHA:261229
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Obesity, EEG abnormality, Seizure, Gait imbalance ORPHA:411511
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Attent... ORPHA:466943
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure OMIM:617360
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetria, Titubation, Spasticity ORPHA:459056
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Goiter OMIM:275000
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Primary ... ORPHA:79083
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... ORPHA:43
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, S... OMIM:617193
Sandhoff Disease
Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensation, Progressive psychomotor d... OMIM:268800
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Adiposis Dolorosa
Obesity, Depression, Seizure, Paresthesia, Memory impairment ORPHA:36397
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... ORPHA:99725
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis OMIM:609454
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Seizure, Testicular atrophy OMIM:222300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Obesity, Truncal... ORPHA:466950
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Un... OMIM:614947
Joubert Syndrome 32
Abnormal cerebellum morphology, Ataxia, Tall stature, Large for gestational age OMIM:617757
Intellectual Developmental Disorder, X-Linked 107
Seizure, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Hypoglycemic seizu... ORPHA:480864
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Low frustration toleranc... OMIM:300486
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus ... ORPHA:488627
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... OMIM:601104
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Bilateral tonic-... ORPHA:2388
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Irrita... ORPHA:99742
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia, Sparse hair, Breast hypoplasia OMIM:614813
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Ataxia, Narcolepsy ORPHA:314404
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Scissor gait, Choreoathetosis, Mental deterioration, Oliv... OMIM:278800
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturba... ORPHA:247262
Smith-Magenis Syndrome
EEG abnormality, Seizure, Increased body weight, Impaired pain sensation OMIM:182290
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Memory impa... ORPHA:139396
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Focal myocl... ORPHA:369929
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ... OMIM:620024
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Seizure, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure OMIM:616351
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Hyperactivity, Elevated circulating growth hormone concentration OMIM:608747
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... OMIM:615866
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Increased body weight, Seizure, ... ORPHA:263455
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social ... ORPHA:309256
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Unsteady gait, Obesity,... OMIM:618443
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Seizure, Neoplasm o... ORPHA:370348
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus, Neonatal death OMIM:601186
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Pain insensitivit... OMIM:620330
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Niemann-Pick Disease Type C
Generalized-onset seizure, Ataxia, Progressive neurologic deterioration, Focal-onset seizure, Cho... ORPHA:646
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Memory imp... ORPHA:247585
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Angelman Syndrome
Broad-based gait, Ataxia, Obesity, EEG abnormality, Progressive gait ataxia, Seizure OMIM:105830
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Chiari type I malformation, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Failure to thrive OMIM:618426
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Helsmoortel-Van Der Aa Syndrome
Tonic seizure, Typical absence seizure, Obesity, Seizure, Truncal obesity, Lateral ventricle dila... OMIM:615873
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Failure to t... ORPHA:268261
Histidinemia
Hyperactivity ORPHA:2157
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Febrile seizure (within the age range... ORPHA:496641
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure, Cerebellar hypoplasia, Cerebellar cyst OMIM:618343
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Chiari type I malformation, Seizure, Choreoathetosis, Attention deficit hyperactivity di... ORPHA:261197
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Warburg Micro Syndrome 3
Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... OMIM:620066
Distal 16P11.2 Microdeletion Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Sparse eyelashes, Oligozoos... ORPHA:125
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, Depression, Atte... ORPHA:77293
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Generaliz... ORPHA:255210
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Cerebellar hypoplasia, Genera... OMIM:257300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow, Sparse pub... OMIM:618419
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Inability to walk, Unsteady gait, Obesity, EEG with focal e... OMIM:618493
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Disproportionate tall sta... ORPHA:457359
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Lesch-Nyhan Syndrome
Seizure, Testicular atrophy OMIM:300322
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Ataxia, Bilateral tonic-clonic seizure, Cognitive impairment OMIM:610505
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure OMIM:201475
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Overgrowth, Agenesi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Overgrowth, Agenesi... ORPHA:352665
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure,... OMIM:261515
Hermansky-Pudlak Syndrome 10
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Partial agenesis of the co... OMIM:619512
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Focal-onset seizure, EEG with tempora... ORPHA:217253
Wilson Disease
Increased body weight, Depression, Weight loss, Difficulty walking, Failure to thrive ORPHA:905
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Focal-onset seizure, Typical absence seizure, Obesity, Failure to thrive, A... OMIM:617157
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Ataxia, Weight loss, Generalized myoclonic seizure, Failure to th... ORPHA:99885
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Seizure, Increased body weight OMIM:300860
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Progressive psychomotor deterioration, Obesity, Seizure, Myoclonus ORPHA:251004
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atonic seizure, U... OMIM:614756
Holoprosencephaly 14
Cerebellar atrophy, Bilateral tonic-clonic seizure, Partial absence of cerebellar vermis, Partial... OMIM:619895
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Increased theta f... ORPHA:459070
Sotos Syndrome
Partial agenesis of the corpus callosum, Increased body weight, Seizure, Overgrowth, Attention de... OMIM:117550
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle ORPHA:556
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Alg9-Cdg
Low posterior hairline, Seizure, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples,... ORPHA:79328
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Lethargy, Failure to thrive OMIM:252010
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Depression, Emotional lability, Abdominal obesity, Cognitive impairment, M... ORPHA:189427
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Increased body weight, Seizure, Abdominal obesity, Cognitive impa... ORPHA:398069
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Vici Syndrome
Postnatal growth retardation, Seizure, Abnormal posturing OMIM:242840
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure, Obesity OMIM:615926
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia, Irritability, Myoclonic spasms ORPHA:447997
Lujo Hemorrhagic Fever
Mental deterioration, Seizure, Bilateral tonic-clonic seizure, Confusion ORPHA:319213
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Truncal obesity... OMIM:612474
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Irritability OMIM:252160
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Overweight, Chiari type I malformation, Seizure, Lateral ventricle dilatati... OMIM:619575
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Hypsarrhythmia, Seizure, Colpocephaly, Cerebellar hypoplasia, Fa... ORPHA:75857
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Dysplastic corpus callosum, Generalized ... ORPHA:500150
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Focal motor seizure, Abnormality of the L... ORPHA:3063
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Wolfram Syndrome 2
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea OMIM:604928
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Small for gestational age OMIM:234100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Myoclon... OMIM:280000
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Meningioma
Hemifacial spasm, Ataxia, Abnormal cerebellum morphology, Focal-onset seizure, Obesity, Emotional... ORPHA:2495
Narcolepsy 3
Narcolepsy OMIM:609039
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy ORPHA:79124
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Narcolepsy 1
Narcolepsy OMIM:161400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Seizure, Infertility, Micropenis ORPHA:3310
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Large for gestational age, Gait ataxia, Seizure, Disproportionate tall statur... OMIM:617011
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... ORPHA:821
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Narcolepsy, Impaired proprioception, Choreoathetosis, Seiz... ORPHA:3385
Narcolepsy 7
Narcolepsy OMIM:614250
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Anorexia ORPHA:91500
Mowat-Wilson Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired p... ORPHA:2152
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Carpenter Syndrome 2
Generalized non-motor (absence) seizure, Obesity OMIM:614976
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261552
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Schinzel-Giedion Syndrome
Epileptic spasm, Streak ovary, Hypospadias, Micropenis, Central hypothyroidism, Seizure, Generali... ORPHA:798
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Cushing Disease
Fatiguable weakness of proximal limb muscles, Increased body weight, Depression, Emotional labili... ORPHA:96253
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Depression ORPHA:355
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... ORPHA:709
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Doors Syndrome
Small cerebellar cortex, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awarenes... ORPHA:79500
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinar... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinar... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinar... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinar... ORPHA:881
Ogden Syndrome
Irritability, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Seizure, Narcolepsy, Impaired pain sensation ORPHA:293987
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Hartsfield Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:615465
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Broad-based gait, Inability to walk, Seizure, Myoclonus, Bilateral tonic-clonic ... ORPHA:438213
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Depression, Tru... ORPHA:99889
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Kabuki Syndrome 1
Seizure, Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic s... OMIM:147920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ube3a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ube3a.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of the Ube3a Gene. Cells (September 2022) Ube3aem1(IMPC)Ccpcz PMC9496699
Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation. Nature communications (February 2016) Ube3atm1a(KOMP)Wtsi PMC4754338

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ube3atm3e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ube3atm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ube3aem1(IMPC)Hmgu Deletion Mice
Ube3atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ube3atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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