| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| 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 |
| 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, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
| 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 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
| 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 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure |
OMIM:618596 |
| Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
| Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... |
OMIM:615744 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
| 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 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
| Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
| Jeavons Syndrome |
|
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Generalized myocl... |
ORPHA:139431 |
| Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Focal motor seizu... |
OMIM:617665 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... |
OMIM:617113 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
| Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
| Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Generalized-onset seizure, EEG with spike-wave complexes, Bilateral tonic... |
ORPHA:36387 |
| Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... |
OMIM:254800 |
| Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
| Myoclonic-Atonic Epilepsy |
|
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... |
OMIM:616421 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... |
ORPHA:98811 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... |
OMIM:608636 |
| Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... |
OMIM:613855 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressiv... |
ORPHA:86909 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking |
OMIM:616330 |
| Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... |
ORPHA:33069 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
| Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Chorea, Vertigo, Hand tremor, Athetosis, Thalamic calcification, Motor tics |
OMIM:615483 |
| Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| 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 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Bruxism, EEG abnormality, Falls, Inappropriate laughter, Dys... |
OMIM:619150 |
| Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Hydrocephalus, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Optic atrophy, Abnor... |
OMIM:619470 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Dysphagia, Bradykinesia, Thalamic calcification, Dystonia |
OMIM:618317 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms |
OMIM:602066 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavi... |
ORPHA:382 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generali... |
OMIM:617836 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Compulsive behaviors, Abnormal thalamus morphology, Difficulty walking |
ORPHA:397725 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Hearing imp... |
OMIM:613724 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... |
ORPHA:208447 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
| Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... |
ORPHA:1942 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Multifocal epilept... |
OMIM:617711 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, EEG abnormality, Self-injurious behavior, Dystonia, Abnormal repetitive manner... |
OMIM:617820 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition, Gait disturbance, EEG abnormality |
OMIM:618193 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to walk, T2 hypointens... |
ORPHA:1947 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... |
OMIM:618718 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
| Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Inability to walk, EEG with burst suppression, Spastic tetraplegi... |
OMIM:617929 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus |
ORPHA:86814 |
| Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
| Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Restlessness, Epileptic spasm, EEG with burst suppression, Focal-on... |
ORPHA:3006 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Positive Romberg sign,... |
OMIM:616515 |
| Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment |
OMIM:620270 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Atonic seizure, Infantile spasms, Inability to walk, Multifocal epileptiform discharges, Generali... |
ORPHA:411986 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Difficulty walking, Spasticity |
OMIM:618242 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:363717 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
| Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, A... |
OMIM:618218 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, EEG abnormality, Self-injurious behavior, Dystonia, Stereotypical hand... |
OMIM:618760 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... |
ORPHA:544254 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Limb ataxia, Bradykinesia, Thalamic calcification, Limb dystonia |
OMIM:618824 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... |
OMIM:617600 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... |
ORPHA:101070 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia, Hypsarrhythmia |
OMIM:613668 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Generalized non-motor (absence) seizure, Focal impaired aware... |
OMIM:616521 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:467166 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hydrocephalus, ... |
OMIM:300558 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Decreased thalamic volume, Dystonia |
OMIM:618646 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Focal impaired awareness hemiclonic seizure, Chorea, Generalized non-motor (a... |
OMIM:620149 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
| Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal cent... |
ORPHA:228360 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Focal T2 hyperintense thalamic lesion, Dysphagia, ... |
ORPHA:79264 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper... |
ORPHA:435638 |
| Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... |
OMIM:620166 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing imp... |
ORPHA:300570 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Multifocal epileptiform discharges, Gait disturbance, Inappropriate laug... |
ORPHA:505652 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... |
ORPHA:31709 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... |
OMIM:618170 |
| Neuroferritinopathy |
|
Resting tremor, Writer's cramp, T2 hypointense thalamus, Chorea, Abnormal thalamic MRI signal int... |
ORPHA:157846 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Abnormal thalamic MRI signal intensity, EEG ... |
ORPHA:363558 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Choreoathetosis, Seizure, Colpocephal... |
OMIM:616034 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping |
OMIM:619717 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Ataxia, Agitation |
OMIM:619046 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Dystonia,... |
OMIM:619725 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... |
OMIM:617695 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Overfol... |
OMIM:619092 |
| 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 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Dysto... |
OMIM:600795 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Bruxism, EEG abnormality, Self-injurious behavior, ... |
OMIM:614254 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Bruxism, Dysphagia, Bradykinesia, Agitation, Dystonia, Abnormal repetitive... |
OMIM:617435 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... |
ORPHA:98820 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... |
OMIM:300260 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr... |
OMIM:619229 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Abnormal thalamic MRI signal... |
ORPHA:254930 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Tremor, EEG with burst suppres... |
ORPHA:79139 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... |
OMIM:614104 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Choreoathetosis, Bruxism, Conductive hearing impairment, Stereotypic... |
OMIM:618497 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Myoclonic absence seizure, Atte... |
ORPHA:64280 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... |
OMIM:617188 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Agg... |
OMIM:300912 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears |
OMIM:618147 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Tremor, Inability to walk, Tongue thrusting, Gait ... |
ORPHA:3095 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Benign Familial Neonatal Epilepsy |
|
Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure, Focal ... |
ORPHA:1949 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Lafora Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal... |
ORPHA:501 |
| Christianson Syndrome |
|
Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Macrotia, Abnormal repe... |
ORPHA:85278 |
| Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
| Foxg1 Syndrome |
|
Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Dystonia, Abnormal repetitive ma... |
ORPHA:561854 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
| Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Dysesthesia, Unstea... |
ORPHA:79101 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Cach Syndrome |
|
T2 hypointense thalamus, Optic atrophy, Limb ataxia, Dysmetria, Dysphagia, Truncal ataxia |
ORPHA:135 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari... |
OMIM:619422 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... |
ORPHA:206443 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls |
OMIM:617691 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... |
ORPHA:98761 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal thalamus morphology, Low... |
ORPHA:404440 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
| Periventricular Nodular Heterotopia 7 |
|
Ataxia, Infantile spasms, Cryptorchidism, Generalized non-motor (absence) seizure, Hypsarrhythmia... |
OMIM:617201 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
| Angelman Syndrome |
|
Tremor, Hyperactivity, Ataxia, Tongue thrusting, EEG abnormality, Seizure, Myoclonus, Atypical ab... |
ORPHA:72 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| 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 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
| Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Aggressive behavior, Abnormal th... |
ORPHA:83597 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy, Hearing impairment |
OMIM:619057 |
| Harel-Yoon Syndrome |
|
Inability to walk, Spasticity, Ataxia, Generalized non-motor (absence) seizure |
OMIM:617183 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Dystonia |
ORPHA:280763 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... |
OMIM:182290 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... |
OMIM:617807 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dys... |
ORPHA:79263 |
| Liang-Wang Syndrome |
|
Ataxia, Generalized non-motor (absence) seizure, Status epilepticus |
OMIM:618729 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Intention tremor, Broad-based gait, Tongue thrusting, Gait ataxia |
OMIM:620393 |
| Rett Syndrome |
|
Inability to walk, Bradykinesia, EEG abnormality, Gait disturbance, Abnormal autonomic nervous sy... |
ORPHA:778 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Gait disturbance, Macrotia, Abnorm... |
ORPHA:457240 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Abnormal thalamic MRI sig... |
ORPHA:845 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, EEG abnormali... |
ORPHA:1934 |
| Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Tetraplegia, Opisthotonus, Hy... |
ORPHA:95232 |
| Autism, Susceptibility To, 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608049 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macro... |
OMIM:618004 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Tremor, Bruxism, Choreoathetosis, Bradykinesia, Shuffling g... |
OMIM:300055 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology |
OMIM:611890 |
| Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormal neuron morp... |
ORPHA:163681 |
| 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 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Low-set ears |
OMIM:619072 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:530983 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Opisthotonus, Chor... |
OMIM:619580 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus... |
ORPHA:395 |
| Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... |
ORPHA:99027 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia |
OMIM:614229 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:576283 |
| Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Status epilept... |
ORPHA:3051 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Ataxia, Aganglionic megacolon, Hydrocep... |
ORPHA:59315 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... |
OMIM:620141 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Abnor... |
ORPHA:70595 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
| Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| 7Q31 Microdeletion Syndrome |
|
Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... |
ORPHA:251061 |
| Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal thalamus morphology, He... |
ORPHA:557003 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Self-injurious behavior, Dystonia, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy |
OMIM:605899 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism |
OMIM:300434 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Compulsive behaviors, Low-s... |
OMIM:618430 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... |
OMIM:620021 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... |
ORPHA:98784 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Unsteady gait |
OMIM:617542 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Unsteady gait, Dysmetria, Hypsarrhy... |
OMIM:617773 |
| Leigh Syndrome |
|
Ataxia, Chorea, Sensorineural hearing impairment, Optic atrophy, Abnormal thalamic MRI signal int... |
ORPHA:506 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di... |
OMIM:619121 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Akinesia, Tremor, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxi... |
ORPHA:48818 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Babinski sign, Generalized non-mo... |
OMIM:615802 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interictal e... |
OMIM:617802 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Protruding ear, EEG abnormality, Athetosis, Dystonia, Abnormal... |
OMIM:613454 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... |
OMIM:610883 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Generalized non-motor (absence) seizure, Seizure, Bruxism, Agenesis of corpus callosum, Stereotyp... |
OMIM:612337 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... |
ORPHA:98794 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Lower limb spasticity, Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriat... |
ORPHA:363686 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Unsteady gait, Pica, EEG abnormality, Low-set ears, Recurrent hand flapping |
OMIM:618480 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, EEG abnormality, Gait imbal... |
ORPHA:411511 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Spastic tetraplegia, Generalized non-motor (abse... |
ORPHA:79351 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Progressive sensorineural hearing impairment, Broad-based gait, Abnormal thalamus morphology, Par... |
ORPHA:2959 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Multifocal epileptiform discharges, Genera... |
OMIM:615398 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... |
OMIM:619435 |
| Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism... |
OMIM:620224 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec... |
OMIM:617903 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... |
OMIM:617101 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| 48,Xxyy Syndrome |
|
Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti... |
ORPHA:10 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pica, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:615032 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy... |
OMIM:619312 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Abnormal repetitive mannerisms, Agitation, Ataxia |
ORPHA:927 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... |
ORPHA:3306 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... |
OMIM:619777 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:618205 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... |
OMIM:123450 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Bruxism, Gait ataxia, EEG abnormality, Dystonia, Stereotypical hand... |
OMIM:312750 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera... |
ORPHA:391372 |
| Galloway-Mowat Syndrome 6 |
|
Paroxysmal bursts of laughter, Abnormal repetitive mannerisms, Decreased response to growth hormo... |
OMIM:618347 |
| 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 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Cryptorchidism, Unsteady gait, Generalized... |
OMIM:617798 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Gait disturbance |
ORPHA:88619 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Decreased thalamic... |
ORPHA:370959 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... |
OMIM:300352 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Neurogenic bladder, Aggressive behavior, Progressive ... |
ORPHA:43 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Inappropriate laughter |
OMIM:618859 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait disturbance, Abnormal auto... |
ORPHA:35069 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma... |
ORPHA:2479 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Pica, Generalized non-motor (absence) seizure, Seizure, Spina bifida occulta, Agenesis of corpus ... |
OMIM:617360 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
| Pettigrew Syndrome |
|
Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Optic ... |
OMIM:304340 |
| Smith-Magenis Syndrome |
|
Impaired pain sensation, EEG abnormality, Self-injurious behavior, Gait disturbance, Attention de... |
ORPHA:819 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... |
OMIM:617865 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
| Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypsarrhythmia |
OMIM:618916 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... |
ORPHA:261197 |
| Dpm1-Cdg |
|
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Spasticity, Atonic ... |
ORPHA:79322 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Large earlobe, Bruxism |
OMIM:615716 |
| Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Slurred speech, Generalized non-motor (absence) s... |
OMIM:277590 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Multifocal epileptifo... |
ORPHA:369891 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Recurrent... |
OMIM:617788 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... |
ORPHA:401777 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529799 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga... |
ORPHA:803 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Status epilept... |
ORPHA:96147 |
| Distal Deletion 10Q |
|
Abnormal morphology of the vestibule of the inner ear, Ataxia, Aggressive behavior, Congenital se... |
ORPHA:96148 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Hydrocephalus, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology |
ORPHA:412066 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Inappropriate l... |
OMIM:103050 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Low-set ears |
ORPHA:2570 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia |
OMIM:616977 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized myoclonic seizure, Infantile spasms, Atonic seizure, Inability to walk, Chorea, Oculo... |
ORPHA:404454 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
| Meningioma |
|
Enlarged pituitary gland, Papilledema, Ataxia, Facial palsy, Neoplasm of the anterior pituitary, ... |
ORPHA:2495 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Ataxia, Optic atrophy, Dysphagia, Dystonia, Macrotia, Abnormal repetitive man... |
ORPHA:496641 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysphagi... |
OMIM:610217 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Thalamic edema, Opisthotonus, Infantile sensorineural hearing impairment,... |
ORPHA:2177 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Tip-toe gait, Microtia, Stereotypical body rocking... |
ORPHA:293939 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst... |
ORPHA:93958 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Posteriorly rotated ears, Prominent crus of helix, Inability to walk, Chorea, Bruxism, Lo... |
OMIM:617804 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Optic disc pallor, Ataxia, Abnormal auditory evoked ... |
ORPHA:909 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Attention defic... |
OMIM:619680 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... |
ORPHA:206448 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Macrotia, Ataxia, Decreased thalamic volume |
ORPHA:168577 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Decreased response to growth hormone stimulation... |
OMIM:601853 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment... |
ORPHA:66634 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe... |
ORPHA:457279 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set e... |
OMIM:619575 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... |
OMIM:616364 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Posteriorly rotated ears, Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Low-s... |
OMIM:618929 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon, Ataxia, Hearing impairment |
ORPHA:2720 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... |
OMIM:300672 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... |
OMIM:212066 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
| Ogden Syndrome |
|
Abnormal head movements, Torticollis, Shuffling gait, Low-set ears, Lethargy, Macrotia |
ORPHA:276432 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... |
ORPHA:369837 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... |
OMIM:619103 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, EEG wi... |
OMIM:617864 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Hydrocephalus, Vertigo... |
ORPHA:54595 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... |
ORPHA:320406 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Limb tremor, EEG abnormality, Progressive gait ataxia, P... |
OMIM:105830 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Apert Syndrome |
|
Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morph... |
ORPHA:87 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity |
OMIM:609727 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Hydrocephal... |
ORPHA:96121 |
| Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance |
ORPHA:213 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ataxia, Inability to walk, Myelopathy, Dysmetria, Gait disturbance, Difficulty wal... |
ORPHA:139396 |
| White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
ORPHA:468678 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ... |
ORPHA:217253 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia |
OMIM:607625 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... |
ORPHA:466943 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly, Low-set ears |
ORPHA:2165 |
| Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythmia, Opist... |
OMIM:220120 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Fusion of th... |
OMIM:610828 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Pain insensitivity, Ataxia, Posteriorly rotated ears, Overfolded helix, Dysmetr... |
OMIM:617330 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Low-set ears, Simple ear |
OMIM:619306 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Dysphagia |
ORPHA:258 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azo... |
ORPHA:8 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti... |
OMIM:619475 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, Aqueductal stenosis, Externa... |
ORPHA:138 |
| 9P13 Microdeletion Syndrome |
|
Abnormality of cartilage of external ear, Hand tremor, Low-set ears, Bruxism, Recurrent otitis me... |
ORPHA:324313 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set ears, Dysphagia, Abnormal re... |
ORPHA:447997 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior... |
OMIM:614756 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| 2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Self-mutila... |
ORPHA:314621 |
| Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased am... |
ORPHA:2388 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Inapp... |
OMIM:156200 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:620330 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Cryptorchidism, Ty... |
ORPHA:268261 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... |
OMIM:619005 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... |
ORPHA:90321 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Inability to walk, Gait disturbance, Dysphagia, Hypothalamic atr... |
ORPHA:2822 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Sensorineural hearin... |
OMIM:619512 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Dysphagia, Choreoathetosis, ... |
OMIM:234200 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Hyperlysinemia |
|
Hyperactivity, Tremor, Dysmetria, Opisthotonus, Tip-toe gait, Dysphagia, Hypoplasia of the antihe... |
ORPHA:2203 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... |
OMIM:615485 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Hydrocephalus, Low-set ears |
ORPHA:401973 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Elevated circulating growth hormone concentration |
OMIM:608747 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Ataxia |
ORPHA:760 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Cryptorchidism, Typical absence sei... |
OMIM:615873 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Sensorineural hearing impairment, Abnorm... |
ORPHA:209905 |
| Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... |
ORPHA:261494 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
| Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morph... |
ORPHA:649 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive be... |
ORPHA:580 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Cryptorchidism, Inability to walk, Typical absence seizure, Seizure, Bru... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Cryptorchidism, Inability to walk, Typical absence seizure, Seizure, Bru... |
ORPHA:352665 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Abnormal synaptic transmis... |
ORPHA:1320 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Arthrogryposis, Distal, Type 2A |
|
Spina bifida occulta, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Low-se... |
ORPHA:319182 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Cupped ear, Low-set ears, Attention deficit hyperactivity disorder, Frequent temper tantr... |
OMIM:617062 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Self-injurious behavior, Microtia, Stereotypical body rocking, L... |
ORPHA:261323 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Spina bifida occ... |
OMIM:301030 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Protruding ear, Posterior pituitary hypoplasia, Gait disturbance, Attention de... |
ORPHA:464311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Facial palsy, Abnormal hypothalamus morphology, Lethargy |
ORPHA:68 |
| Dpagt1-Cdg |
|
EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to w... |
ORPHA:86309 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Anterior pituitary hypoplasia, Protruding ear, Gait disturbance... |
ORPHA:464306 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten... |
OMIM:256800 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Macroti... |
OMIM:615574 |
| Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... |
OMIM:216400 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Orthostatic hypotension, Impaired temperature sensation |
OMIM:268800 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... |
OMIM:301040 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Lobar holoprosencep... |
ORPHA:468631 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive... |
ORPHA:369950 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Head-bangin... |
ORPHA:177907 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... |
OMIM:133540 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Rigidity, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Hype... |
ORPHA:2636 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Dysphag... |
OMIM:616268 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Anorexia, Tremor, Tip-toe gait, Compulsive behaviors, Dystonia, Abnormal temper tantrums,... |
ORPHA:3008 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus |
ORPHA:508533 |
| Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Decreased response to growth hormone stimulation test, Ap... |
OMIM:214800 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire... |
ORPHA:642 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... |
OMIM:612474 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Optic atrophy, Holoprosencephaly |
OMIM:253800 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
| Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Dystonia |
OMIM:272750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,... |
OMIM:309590 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:71272 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Apraxia |
ORPHA:77293 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Dysplastic corpus callosum, Generalized non-motor (absence) seizure, L... |
ORPHA:500150 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Spina bifida, Abnormal optic disc morphology, Abnormal repe... |
ORPHA:508498 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Optic atrophy |
OMIM:614298 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Polyphagia, E... |
ORPHA:1606 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Cryptorchidism, Focal-onset... |
ORPHA:2152 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom... |
ORPHA:805 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Cryptorchidism, Focal-onset seizure... |
ORPHA:261537 |
| Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Cryptorchidism, Poor coordination, D... |
ORPHA:821 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
| Williams Syndrome |
|
Low-set, posteriorly rotated ears, Ataxia, Tremor, Macrotia, Sensorineural hearing impairment, Sp... |
ORPHA:904 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... |
OMIM:619325 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Inability to walk, Abnormality... |
ORPHA:438213 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia, EEG with generalized slow activity |
OMIM:618367 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Protruding ear, EEG abnormality, Self-injurious behavior, Atte... |
ORPHA:534 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Macrotia, Hearing impairment |
ORPHA:48652 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Cryptorchidism, Focal-onset seizure... |
ORPHA:261552 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
| Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
| Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... |
OMIM:259050 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypocalcemic seizures |
ORPHA:2239 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Hydrocephalus, Sensorineural hearing impairment, EEG abnormality, Cond... |
OMIM:194190 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Cryptorchidism, Generalized non-motor (absence) seizure |
OMIM:614976 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Hydrocephalus, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Focal-onset seizure, Typical absence seizure, Atonic seizure |
OMIM:617157 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Ogden Syndrome |
|
Torticollis, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Macrotia, Abnormal ... |
OMIM:300855 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus |
OMIM:244400 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Alström Syndrome |
|
Somatic sensory dysfunction, Incoordination, Ataxia, Hypergonadotropic hypogonadism, Testicular f... |
ORPHA:64 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
