Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Hearing impairment, Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:620038 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis, Cognitive impairment |
OMIM:238700 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... |
ORPHA:280397 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Cataract |
ORPHA:75858 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... |
OMIM:619191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Charcot-Marie-Tooth Disease Type 1B |
|
Hearing impairment, Abnormal pupil morphology, Decreased nerve conduction velocity |
ORPHA:101082 |
Hyperprolinemia, Type I |
|
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... |
ORPHA:2382 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Alexander Disease |
|
Ataxia, Microcoria, Apathy, Dysmetria |
OMIM:203450 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Phenylketonuria |
|
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, C... |
OMIM:261600 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Norrie Disease |
|
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacifi... |
OMIM:310600 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Iris hypopigmentation |
ORPHA:411515 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Aggressive behavior |
OMIM:300983 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... |
OMIM:609425 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior |
OMIM:604317 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Blue irides, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:615516 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment |
ORPHA:1885 |
Cln5 Disease |
|
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... |
ORPHA:228360 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... |
OMIM:619827 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Focal EE... |
ORPHA:3077 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... |
ORPHA:1929 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Ataxia, Hyperactivity |
OMIM:615924 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior |
ORPHA:382 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:271980 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism |
OMIM:619927 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Irritability... |
ORPHA:248111 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... |
ORPHA:168491 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism |
ORPHA:54 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Inability to walk, Self-injurious behavior, Hyperactivity, Low-set ears |
OMIM:618718 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Charcot-Marie-Tooth Disease Type 1E |
|
Sensorineural hearing impairment, Gait imbalance, Inability to walk, Abnormal pupil morphology, D... |
ORPHA:90658 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment |
OMIM:617302 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... |
ORPHA:88616 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Mydriasis, Progressive gait ataxia |
ORPHA:247815 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... |
OMIM:601596 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Short Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Abnormal pupil morphology, Abnormal anterior c... |
ORPHA:3163 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, S... |
ORPHA:163681 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Abnormal autonomic nervous system... |
OMIM:256800 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... |
OMIM:109120 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior |
OMIM:610042 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... |
ORPHA:206448 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... |
ORPHA:1942 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Ectopia pupillae, Posterior embryotoxon, Hypoplasia of the iris... |
OMIM:602482 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... |
OMIM:106210 |
Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Optic atrophy, Gait ... |
ORPHA:1764 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Hyperactivity, Inability to walk, Gait ataxia, Aggressive behavior |
ORPHA:500180 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619467 |
Distal Monosomy 6P |
|
Low-set ears, Corneal opacity, Self-injurious behavior, Abnormal anterior chamber morphology, Ect... |
ORPHA:96125 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
EEG abnormality, Hyperactivity, Dysmetria, Aggressive behavior, Unsteady gait, Hypsarrhythmia, Lo... |
OMIM:617773 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
Superficial Siderosis |
|
Ataxia, Limb ataxia, Dysmetria, Cognitive impairment, Dysdiadochokinesis, Anisocoria, Memory impa... |
ORPHA:247245 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Anx... |
ORPHA:485350 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait |
OMIM:617865 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
Norrie Disease |
|
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... |
ORPHA:649 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Anisocoria, Optic ... |
OMIM:231550 |
Triopia |
|
Iris coloboma, Abnormal pupil morphology, Microcornea |
ORPHA:3374 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... |
ORPHA:101085 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... |
ORPHA:99027 |
Trisomy 9P |
|
Protruding ear, Abnormal pupil morphology, Macrotia |
ORPHA:236 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:300558 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Optic disc pallor, Cataract, Abnormal auditory evoked p... |
OMIM:619260 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Aggressive behavior |
ORPHA:289483 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Duane Retraction Syndrome |
|
Sensorineural hearing impairment, Hypoplastic iris stroma, Abnormal pupil morphology, External ea... |
ORPHA:233 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... |
ORPHA:35069 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:300958 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Attention ... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... |
OMIM:619913 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
Revesz Syndrome |
|
Ataxia, Megalocornea, Progressive neurologic deterioration, Leukocoria |
OMIM:268130 |
Trichinellosis |
|
Apathy, Anisocoria, Memory impairment, Tinnitus, Abnormal uvea morphology, Facial palsy, Conjunct... |
ORPHA:863 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Thi... |
OMIM:614104 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Hyperactivity, Happy demeanor, EEG wit... |
ORPHA:98794 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Fragile X Syndrome |
|
Hyperactivity, Self-biting, Macrotia |
OMIM:300624 |
Proteus-Like Syndrome |
|
Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis |
ORPHA:2969 |
Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Alagille Syndrome |
|
Protruding ear, Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Hyperactivity, Self-injurious behavior, Cognitive impairment, Opacification of the cornea... |
OMIM:601853 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... |
ORPHA:909 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, EEG abnormality, Abnormality of the autonomic nervous system, Decreased motor nerve condu... |
ORPHA:79138 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Irritability, Mental deterioration, Progressive neurologic d... |
ORPHA:206436 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Charcot-Marie-Tooth Disease Type 4C |
|
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, A... |
ORPHA:99949 |
Mend Syndrome |
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Low-set ears, Hyperactivity, Cataract |
OMIM:300960 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Aggressive behavior, Irritability, Macrotia |
ORPHA:391307 |
Intellectual Developmental Disorder, X-Linked 21 |
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Uplifted earlobe, Hyperactivity |
OMIM:300143 |
Serotonin Syndrome |
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Mental deterioration, Abnormality of the autonomic nervous system, Anxiety, Mydriasis, Irritability |
ORPHA:43116 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Large earlobe, Microcornea, Cataract, Low-set ears, Persistent pupillary membrane |
OMIM:257850 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... |
ORPHA:90321 |
Iatrogenic Botulism |
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Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... |
ORPHA:529799 |
X-Linked Creatine Transporter Deficiency |
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Ataxia, Hyperactivity, Self-mutilation, Athetosis, Aganglionic megacolon |
ORPHA:52503 |
Arachnoid Cyst |
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Social and occupational deterioration, Inability to walk, Cranial nerve compression, Memory impai... |
ORPHA:2356 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Optic atrophy, Ectopia pupillae, Cataract, Astigmatism |
OMIM:618727 |
Adenylosuccinase Deficiency |
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Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... |
OMIM:103050 |
Oculopalatocerebral Syndrome |
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Leukocoria |
OMIM:257910 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
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Orthostatic hypotension, Hearing impairment, Anisocoria, Ataxia |
OMIM:615510 |
Mend Syndrome |
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Hyperactivity, Cataract, Aggressive behavior, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Angelman Syndrome |
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Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Inability to walk, Hyperactivity, Self... |
ORPHA:72 |
Oculocerebrorenal Syndrome Of Lowe |
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Protruding ear, EEG abnormality, Abnormal pupil morphology, Corneal opacity, Self-injurious behav... |
ORPHA:534 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:449291 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria |
OMIM:219250 |
X-Linked Cerebral Adrenoleukodystrophy |
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Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... |
ORPHA:139396 |
Angelman Syndrome |
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Broad-based gait, EEG abnormality, Hyperactivity, Blue irides, Progressive gait ataxia |
OMIM:105830 |
Knobloch Syndrome 1 |
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Ataxia, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Optic disc pallor, Iris transi... |
OMIM:267750 |
Arthrogryposis, Distal, Type 2A |
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Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Intestinal Botulism |
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Mydriasis |
ORPHA:178481 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
Toxin-Mediated Infectious Botulism |
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Mydriasis |
ORPHA:230800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Mydriasis |
OMIM:619365 |
Iris Hypoplasia With Glaucoma |
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Hypoplasia of the iris, Iris atrophy |
OMIM:308500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane |
OMIM:613150 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Optic atrophy, Gait ataxia, E... |
OMIM:610217 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Cataract, Thickened helices, Macrotia |
ORPHA:2714 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Overfolded helix, Low-set ears, Cupped ear, Ectopia pupillae |
OMIM:618223 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:216400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Self-mutilation, Gait ataxia, Macrotia, Low frustration tolerance |
OMIM:300486 |
Alternating Hemiplegia Of Childhood |
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Ataxia, Abnormal autonomic nervous system physiology, Progressive neurologic deterioration, Mydri... |
ORPHA:2131 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:133540 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Nephronophthisis 11 |
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Anisocoria |
OMIM:613550 |
Spastic Paraplegia 29, Autosomal Dominant |
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Sensorineural hearing impairment, Hyperactivity |
OMIM:609727 |
Pierson Syndrome |
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Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... |
OMIM:609049 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Microcephaly 29, Primary, Autosomal Recessive |
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Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Legius Syndrome |
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Hyperactivity, Cognitive impairment, Vestibular schwannoma, Attention deficit hyperactivity disor... |
ORPHA:137605 |
Witteveen-Kolk Syndrome |
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Sensorineural hearing impairment, Uplifted earlobe, Protruding ear, Conspicuously happy dispositi... |
OMIM:613406 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Juvenile Glaucoma |
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Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... |
ORPHA:98977 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Polycoria, Corneal opacity, Corneal neovascularization, Ectopia pupillae, Facial paralysis, Micro... |
OMIM:175780 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overfolded helix, Low-set ears, Difficulty walking, Anisocoria |
OMIM:618653 |
Cutis Marmorata Telangiectatica Congenita |
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Cognitive impairment, Leukocoria |
ORPHA:1556 |
Infant Botulism |
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Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Osteopetrosis, Autosomal Recessive 5 |
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Mydriasis, Optic atrophy, Optic disc pallor, Facial palsy, Irritability |
OMIM:259720 |
Trisomy 10P |
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EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Mowat-Wilson Syndrome |
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Large earlobe, Uplifted earlobe, Happy demeanor, Ectopia pupillae, Cupped ear, Microcornea, Iris ... |
OMIM:235730 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment |
ORPHA:79330 |
Retinoblastoma |
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Hypopyon, Uveitis, Heterochromia iridis, Leukocoria |
ORPHA:790 |
Argininemia |
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Spastic gait, Hyperactivity, Irritability |
OMIM:207800 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, EEG abnormality, Inability ... |
ORPHA:261552 |
Early Infantile Epileptic Encephalopathy |
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EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... |
ORPHA:1934 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling |
ORPHA:447997 |
Wolf-Hirschhorn Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, EEG a... |
OMIM:194190 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Akinesia, Ataxia, Hyperactivity, Mental deterioration, Optic atrophy, Gait disturbance, Choreoath... |
OMIM:234200 |
Pituitary Apoplexy |
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Mydriasis |
ORPHA:95613 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Astigmatism, Gait ataxia, Sho... |
OMIM:614756 |
Craniotubular Dysplasia, Ikegawa Type |
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Optic neuropathy, Mydriasis, Optic atrophy, Optic nerve compression, Hearing impairment |
OMIM:619727 |
Choreoacanthocytosis |
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Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Abnormal autono... |
ORPHA:2388 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Corneal scarring, Corneal ulceration, Hyperactivity, Self-mutilation, Orthostatic hypotension due... |
ORPHA:642 |
Retinoblastoma |
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Leukocoria |
OMIM:180200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Sensorineural hearing impairment, Mydriasis |
OMIM:619351 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Mydriasis |
OMIM:613834 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Plague |
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Anxiety, Mydriasis, Unsteady gait, Hearing impairment, Conjunctival hyperemia |
ORPHA:707 |
Vascular Ehlers-Danlos Syndrome |
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Protruding ear, Abnormal pupil morphology, Cognitive impairment, Keratoconus, Aplasia/Hypoplasia ... |
ORPHA:286 |
Cocaine Intoxication |
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Mydriasis |
ORPHA:90068 |
Scorpion Envenomation |
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Ataxia, Mydriasis |
ORPHA:466677 |
Sponastrime Dysplasia |
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Congenital aphakia, Microcoria, Cataract |
ORPHA:93357 |