Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Occult Macular Dystrophy |
|
Abnormal multifocal electroretinogram |
OMIM:613587 |
Cln5 Disease |
|
Generalized-onset seizure, Ataxia, Tremor, Focal-onset seizure, Inability to walk, Unsteady gait,... |
ORPHA:228360 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:209850 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Seizure, Ataxia, Difficulty walking |
ORPHA:320401 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci... |
OMIM:608636 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Undetectable visual evoked poten... |
OMIM:601338 |
Usher Syndrome, Type I |
|
Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Inability to walk, Unsteady gait, Abnormality of pattern visual evoked potentials, Gait a... |
ORPHA:1947 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Gait disturbance, Myoclonus, Limb dystonia, Abnor... |
ORPHA:508093 |
Developmental And Epileptic Encephalopathy 3 |
|
Generalized myoclonic seizure, Seizure, Abnormality of visual evoked potentials |
OMIM:609304 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Inability t... |
ORPHA:168491 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Gait disturbance, Dystonia, Abnormality of visual ... |
ORPHA:96 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Seizure, Abnormal electroretinogram, Ataxia |
ORPHA:1933 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Ataxia, Myoclonus, Undetectable electroretinogram |
OMIM:204500 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Focal dystonia, Attention defi... |
OMIM:605361 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Abnormal electroretinogram |
OMIM:165510 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Seizure, Abnormal electroretinogram, Gait disturbance |
ORPHA:2971 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Seizure, Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Choreoathetosis, Seizure, Gait disturbance, Dystonia, Abnormality of visual evoked potent... |
ORPHA:702 |
Late-Infantile/Juvenile Krabbe Disease |
|
Ataxia, Tremor, Seizure, Gait disturbance, Difficulty walking, Loss of ambulation, Febrile seizur... |
ORPHA:206443 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
X-Linked Retinoschisis |
|
Abnormal electroretinogram |
ORPHA:792 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Seizure |
ORPHA:141 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Postural tremor, Dysmetria, Bradykinesia, Progressive ce... |
ORPHA:98755 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Seizure, Unsteady gait, Ataxia |
OMIM:256600 |
Optic Atrophy 5 |
|
Abnormality of pattern visual evoked potentials |
OMIM:610708 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Seizure, Abnormal electroretinogram, Gait disturbance |
OMIM:125310 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Inability to walk, Focal dystonia, Shuffling gait, Dystonia, Oroman... |
ORPHA:52368 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform disc... |
ORPHA:599373 |
Oligocone Trichromacy |
|
Abnormal electroretinogram |
ORPHA:75378 |
Macular Dystrophy, Vitelliform, 2 |
|
Abnormal electroretinogram |
OMIM:153700 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Optic Atrophy 1 |
|
Abnormal amplitude of pattern reversal visual evoked potentials, Ataxia |
OMIM:165500 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Unsteady gait, Seizure, Gait disturbance, Dystonia, Abnormality of visual evoked potentials |
ORPHA:35069 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Generalized myoclonic seizure, Seizure, Abnormality of visual evoked potentials |
OMIM:614457 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Seizure, Abnormal electroretinogram, Dystonia |
OMIM:616875 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Dystonia, Abnormality of visual evok... |
ORPHA:309256 |
Sorsby Fundus Dystrophy |
|
Abnormal electroretinogram |
OMIM:136900 |
Retinitis Pigmentosa 31 |
|
Abnormal electroretinogram |
OMIM:609923 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... |
ORPHA:309246 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormal electroretinogram, Ataxia |
ORPHA:2246 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Chorea, Depression, Gait ataxia, Irritability, Progressive cerebellar atax... |
ORPHA:248111 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... |
ORPHA:2382 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials |
OMIM:616648 |
Retinitis Pigmentosa 39 |
|
Abnormal electroretinogram |
OMIM:613809 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormality of visual evoked potentials, Ataxia |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials, Unsteady gait, Gait disturbance |
OMIM:601455 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Seizure, Progressive gait ataxia, Dystonia, Abnormality of visual evoked potentials, Intention tr... |
ORPHA:309263 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Seizure, Abnormal electroretinogram |
OMIM:617173 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... |
OMIM:610042 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Seizure |
OMIM:245200 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Seizure, Myoclonus |
OMIM:260565 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Seizure, Abnormal electroretinogram |
ORPHA:3121 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, EEG abnormality, Bruxism, Abnormal repetitive man... |
OMIM:618718 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Seizure |
ORPHA:163961 |
Joubert Syndrome 25 |
|
Abnormal electroretinogram, Ataxia |
OMIM:616781 |
Stargardt Disease |
|
Abnormality of visual evoked potentials |
ORPHA:827 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal amplitude of pattern reversal visual evoked potentials, Ataxia, Gait disturbance |
OMIM:125250 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Seizure, Epileptic spasm |
ORPHA:485421 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Unsteady gait, Dysmetria, Seizure, Abnormal amplitude ... |
ORPHA:79263 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Steppage gait |
OMIM:601152 |
Xq12-Q13.3 Duplication Syndrome |
|
Generalized myoclonic seizure, Abnormality of visual evoked potentials |
ORPHA:314389 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... |
ORPHA:1929 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... |
ORPHA:1942 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Undetectable visual evoked potentials, Limb ataxia, Truncal ataxia |
OMIM:619051 |
Metachromatic Leukodystrophy, Adult Form |
|
Seizure, Progressive gait ataxia, Difficulty walking, Dystonia, Abnormality of visual evoked pote... |
ORPHA:309271 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ... |
ORPHA:500180 |
Bothnia Retinal Dystrophy |
|
Abnormal electroretinogram |
OMIM:607475 |
Metachromatic Leukodystrophy |
|
Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Dystonia, Abnormality of visual evoked p... |
ORPHA:512 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Progressive Cone Dystrophy |
|
Abnormal electroretinogram |
ORPHA:1871 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Ataxia, Limb ataxia, Gait ataxia |
OMIM:229300 |
Infantile Krabbe Disease |
|
Opisthotonus, Seizure, Myoclonus, Generalized myoclonic seizure, Abnormality of visual evoked pot... |
ORPHA:206436 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials |
OMIM:617523 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials |
ORPHA:352731 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormal electrooculogram |
OMIM:179840 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormal electroretinogram |
ORPHA:1574 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Mental deterioration... |
ORPHA:163681 |
Blue Cone Monochromatism |
|
Abnormal electroretinogram |
ORPHA:16 |
White-Sutton Syndrome |
|
Waddling gait, Abnormal electroretinogram, Hypoglycemic seizures, Focal impaired awareness seizur... |
OMIM:616364 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials |
ORPHA:436245 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Dystonic gait |
ORPHA:480898 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Seizure |
ORPHA:79323 |
Leber Congenital Amaurosis 14 |
|
Falls, Decreased light- and dark-adapted electroretinogram amplitude, Undetectable electroretinogram |
OMIM:613341 |
Retinal Cone Dystrophy 1 |
|
Abnormal electroretinogram |
OMIM:180020 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity, Dysmetria, Gait ataxia |
OMIM:618090 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Seizure |
ORPHA:2510 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials |
OMIM:618195 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials, Seizure, Dystonia |
ORPHA:79330 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... |
ORPHA:449291 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Abnorma... |
ORPHA:258 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormall... |
ORPHA:98794 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Ataxia |
OMIM:231550 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Undetectable visual evoked potentials, Bilateral tonic-clonic seizure |
ORPHA:423479 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious behavior |
OMIM:271980 |
Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Tremor, Tongue thrusting, Gait ataxia, Pill-rollin... |
ORPHA:3095 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Retinitis Pigmentosa 54 |
|
Abnormal electroretinogram |
OMIM:613428 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Abnormality of pattern visual evoked potentials, Seizure, Gait disturb... |
ORPHA:2822 |
Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... |
ORPHA:64280 |
Night Blindness, Congenital Stationary, Type 1C |
|
Abnormal electroretinogram |
OMIM:613216 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Status epilepticus, Myoclonus, Abnormality of visual evoked... |
OMIM:203700 |
Choroideremia |
|
Abnormal electroretinogram |
ORPHA:180 |
Leber Congenital Amaurosis |
|
Seizure, Abnormal electroretinogram |
ORPHA:65 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610217 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials |
ORPHA:79431 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Seizure, Gait disturbance, Dystonia, Abnormality of visual evoked potenti... |
ORPHA:909 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Progressive psychomotor deterioration, Gait ataxia, Cognitive impa... |
ORPHA:363400 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal electroretinogram, Dystonia |
OMIM:304700 |
Usher Syndrome Type 3 |
|
Abnormal electroretinogram, Ataxia |
ORPHA:231183 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram |
ORPHA:166035 |
Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Abnormal electroretinogram, Status epilepticus |
OMIM:616211 |
Ã…land Islands Eye Disease |
|
Abnormal electroretinogram |
ORPHA:178333 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Opisthotonu... |
OMIM:619913 |
Retinitis Pigmentosa 7 |
|
Abnormal electroretinogram |
OMIM:608133 |
Cockayne Syndrome A |
|
Ataxia, Tremor, Seizure, Gait disturbance, Abnormality of visual evoked potentials |
OMIM:216400 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Usher Syndrome Type 1 |
|
Abnormal electroretinogram, Ataxia |
ORPHA:231169 |
Cockayne Syndrome B |
|
Tremor, Seizure, Ataxia, Abnormality of visual evoked potentials |
OMIM:133540 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Abnormal electroretinogram |
ORPHA:1369 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
Retinitis Pigmentosa 50 |
|
Abnormal electroretinogram |
OMIM:613194 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, EEG with focal sharp waves, Dysmetria, Athetosis, Stereotypical body rocki... |
OMIM:617302 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Multifocal epileptiform discharges, Inappropriate laughter, Bruxism, Ste... |
ORPHA:505652 |
Osteopetrosis, Autosomal Recessive 5 |
|
Undetectable visual evoked potentials, Seizure, Generalized-onset seizure |
OMIM:259720 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormal electroretinogram |
ORPHA:2743 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Cogniti... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Retinitis Pigmentosa 4 |
|
Abnormal electroretinogram |
OMIM:613731 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials |
OMIM:614225 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Undetectable visual evoked potentials, Lethargy, Bilateral tonic-clonic seizure, Ataxia |
OMIM:252010 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Retinitis Pigmentosa 19 |
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Abnormal electroretinogram |
OMIM:601718 |
Machado-Joseph Disease |
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Dystonia, Ataxia, Abnormal electrooculogram, Limb ataxia, Bradykinesia, Progressive cerebellar at... |
OMIM:109150 |
Adenylosuccinase Deficiency |
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Hyperactivity, Aggressive behavior, Gait ataxia, Opisthotonus, Inappropriate laughter, Self-mutil... |
OMIM:103050 |
Angelman Syndrome |
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Hyperactivity, Ataxia, Limb tremor, EEG abnormality, Progressive gait ataxia, Paroxysmal bursts o... |
OMIM:105830 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:79430 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Choreoacanthocytosis |
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Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decrease... |
ORPHA:2388 |
Van Den Bosch Syndrome |
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Abnormal electroretinogram |
ORPHA:3417 |
Autosomal Recessive Malignant Osteopetrosis |
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Tremor, Abnormality of visual evoked potentials |
ORPHA:667 |
Citrullinemia Type Ii |
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Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Tremor, Ir... |
ORPHA:247585 |
47,Xyy Syndrome |
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Hyperactivity, Impulsivity, Impaired social interactions, Attention deficit hyperactivity disorder |
ORPHA:8 |
Cerebellar Ataxia-Hypogonadism Syndrome |
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Abnormal electroretinogram, Ataxia |
ORPHA:1173 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
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Abnormal electroretinogram |
ORPHA:1154 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Seizure, Abnormal electroretinogram |
ORPHA:5 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
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Abnormal electroretinogram |
ORPHA:1390 |
Mucolipidosis Type Iv |
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Abnormal electroretinogram, Ataxia, Gait disturbance |
ORPHA:578 |
Niemann-Pick Disease Type C |
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Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... |
ORPHA:646 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Seizure, Abnormal electroretinogram |
ORPHA:542306 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Dystonia, Ataxia, Tremor, Phonic tics, Depression, Choreoathetosis, Blepharospasm,... |
OMIM:234200 |
Retinitis Pigmentosa 45 |
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Abnormal electroretinogram |
OMIM:613767 |
Retinitis Pigmentosa |
|
Abnormal electroretinogram |
ORPHA:791 |
Joubert Syndrome 3 |
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Abnormal electroretinogram, Ataxia |
OMIM:608629 |
Vitreoretinopathy, Neovascular Inflammatory |
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Abnormal electroretinogram |
OMIM:193235 |
Usher Syndrome Type 2 |
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Abnormal electroretinogram, Ataxia |
ORPHA:231178 |
Arthrogryposis, Distal, Type 5 |
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Abnormal electroretinogram |
OMIM:108145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Seizure, Decreased light- and dark-adapted electroretinogram amplitude, Myoclonus, Enlarged flash... |
OMIM:253280 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Self-injuriou... |
ORPHA:1934 |
Usher Syndrome |
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Vestibular areflexia, Abnormal electroretinogram, Ataxia |
ORPHA:886 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Short attention span, Pain insensitivity, Somatic sensory dysfunction... |
ORPHA:642 |
Retinitis Pigmentosa 43 |
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Abnormal electroretinogram |
OMIM:613810 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Loss of ambulation, Seizure, Unsteady gait, Abnormal electroretinogram |
OMIM:214100 |
Cone-Rod Dystrophy 2 |
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Abnormal electroretinogram |
OMIM:120970 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Abnormal electroretinogram |
ORPHA:96181 |
Bardet-Biedl Syndrome |
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Abnormal electroretinogram |
ORPHA:110 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal electroretinogram |
OMIM:614195 |
Acute Zonal Occult Outer Retinopathy |
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Abnormal electroretinogram, Marcus Gunn pupil |
ORPHA:284454 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Cockayne Syndrome |
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Ataxia, Inability to walk, Abnormal electroretinogram, Seizure, Progressive gait ataxia, Gait dis... |
ORPHA:191 |
Developmental And Epileptic Encephalopathy 2 |
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Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... |
OMIM:300672 |
Congenital Fibrosis Of Extraocular Muscles |
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Torticollis, Abnormal electroretinogram |
ORPHA:45358 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Neurofibromatosis Type 1 |
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Seizure, Abnormal electroretinogram, Ataxia |
ORPHA:636 |
Degcags Syndrome |
|
Abnormal electroretinogram |
OMIM:619488 |