Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety |
OMIM:617665 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... |
OMIM:619191 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior |
OMIM:619639 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract |
ORPHA:75858 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... |
OMIM:605361 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Phenylketonuria |
|
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... |
OMIM:261600 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Mental deterioration, Ataxia |
OMIM:615924 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritabil... |
ORPHA:248111 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... |
OMIM:614306 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior |
OMIM:604317 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait |
OMIM:615516 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Isolated Ectopia Lentis |
|
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... |
ORPHA:98973 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia |
ORPHA:247815 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait |
ORPHA:411515 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism |
ORPHA:54 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety |
OMIM:616977 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... |
OMIM:221900 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Uveitis |
OMIM:617044 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... |
ORPHA:3163 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... |
ORPHA:209959 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:619467 |
Charcot-Marie-Tooth Disease Type 1E |
|
Gait disturbance, Gait imbalance, Steppage gait, Abnormal pupil morphology, Inability to walk, An... |
ORPHA:90658 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Uveal Melanoma |
|
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma |
ORPHA:39044 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Revesz Syndrome |
|
Leukocoria, Ataxia, Progressive neurologic deterioration, Megalocornea |
OMIM:268130 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Aggressive behavior, Anisocoria |
ORPHA:289483 |
Triopia |
|
Abnormal pupil morphology, Microcornea, Iris coloboma |
ORPHA:3374 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Irritability, Emotional lab... |
ORPHA:1929 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon |
OMIM:602482 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Familial Dysautonomia |
|
Gait disturbance, Corneal erosion, Heterochromia iridis, Ataxia, Abnormal pupil morphology, Corne... |
ORPHA:1764 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk |
OMIM:618718 |
Mental Retardation, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Self-mutilation, Keratitis, Hyperactivity, Emotional lability, Corneal ulcerati... |
OMIM:256800 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Trichinellosis |
|
Conjunctival hyperemia, Conjunctivitis, Apathy, Abnormal uvea morphology, Irritability, Anisocori... |
ORPHA:863 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Anxiety |
ORPHA:101039 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Self-injurious behavior, Corneal opacity, Abnormal... |
ORPHA:96125 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Astigmatism, Hyperactivity,... |
ORPHA:168491 |
Superficial Siderosis |
|
Dementia, Dysmetria, Cognitive impairment, Progressive gait ataxia, Ataxia, Dysdiadochokinesis, U... |
ORPHA:247245 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... |
ORPHA:363400 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Gait disturbance, Anisocoria |
OMIM:615510 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Pierson Syndrome |
|
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... |
OMIM:609049 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Duane Retraction Syndrome |
|
Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris coloboma, Central heterochromia, ... |
ORPHA:233 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Aggressive behavior, Hyperactivity, Anxiety |
OMIM:300558 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... |
ORPHA:485350 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hyperactivity, Aggressive behavior, Developmental cataract |
OMIM:616809 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration |
OMIM:610042 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... |
OMIM:180500 |
Proteus-Like Syndrome |
|
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid |
ORPHA:2969 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia |
ORPHA:88616 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Ataxia, Anisocoria |
OMIM:231550 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... |
ORPHA:43 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Alagille Syndrome |
|
Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Psychomotor deterioration, Hyperactivity, Ataxia, Emotional lability,... |
ORPHA:35069 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Self-injurious behavior, ... |
ORPHA:649 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Opacification of the cornea... |
OMIM:601853 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... |
ORPHA:163681 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Mental ... |
OMIM:610217 |
Mend Syndrome |
|
Hyperactivity, Cataract |
OMIM:300960 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... |
ORPHA:1942 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Hyperactivity |
OMIM:614613 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Mental Retardation, Autosomal Dominant 7 |
|
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor |
OMIM:614104 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Arachnoid Cyst |
|
Mydriasis, Gait disturbance, Social and occupational deterioration, Inability to walk, Irritabili... |
ORPHA:2356 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:300354 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Persistent pupillary membrane, Cataract |
OMIM:257850 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to walk, Gait ataxia |
OMIM:103050 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Serotonin Syndrome |
|
Mental deterioration, Anxiety, Irritability, Mydriasis |
ORPHA:43116 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based gait |
ORPHA:98794 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia |
ORPHA:228402 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Intellectual Developmental Disorder, X-Linked 21 |
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Hyperactivity |
OMIM:300143 |
Cri-Du-Chat Syndrome |
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Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Cataract, A... |
OMIM:123450 |
Fragile X Syndrome |
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Hyperactivity |
OMIM:300624 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... |
OMIM:175780 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Self-mutilation, Hyperopic astigmatism, Hyperactivity, Low frustration tolerance, Astigmatism |
ORPHA:363686 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Self-injurious behavior, Chorioretinal dysplasia, Lentiglobus, Abnormal pupil morpho... |
ORPHA:534 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly |
OMIM:613150 |
Charcot-Marie-Tooth Disease Type 4C |
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Inability to walk, Gait ataxia, Anisocoria, Difficulty walking |
ORPHA:99949 |
Smith-Magenis Syndrome |
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Hyperactivity, Self-mutilation, Head-banging |
OMIM:182290 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Aggressive behavior, Hyperactivity, Anxiety, Ataxia |
OMIM:618430 |
Chromosome 10Q26 Deletion Syndrome |
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Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:609625 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... |
ORPHA:139396 |
16P12.1P12.3 Triplication Syndrome |
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Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Angelman Syndrome |
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Happy demeanor, Self-injurious behavior, Aggressive behavior, Astigmatism, Hyperactivity, Inabili... |
ORPHA:72 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Nephronophthisis 11 |
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Anisocoria |
OMIM:613550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation |
OMIM:300486 |
Alternating Hemiplegia Of Childhood |
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Mydriasis, Dystonia, Aggressive behavior, Progressive neurologic deterioration, Ataxia, Emotional... |
ORPHA:2131 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Self-mutilation |
ORPHA:412035 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Witteveen-Kolk Syndrome |
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Aggressive behavior, Conspicuously happy disposition, Iris coloboma, Hyperactivity, Attention def... |
OMIM:613406 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity |
OMIM:619239 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Hyperactivity, Aggressive behavior, Ataxia, Ocular anterior segment dysgenesis |
ORPHA:369891 |
Glass Syndrome |
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Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Angelman Syndrome |
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Blue irides, Hyperactivity, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Bickerstaff Brainstem Encephalitis |
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Mydriasis, Ataxia, Anisocoria |
ORPHA:79138 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia |
ORPHA:530983 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Motor deterioration |
OMIM:252930 |
19P13.3 Microduplication Syndrome |
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Self-injurious behavior, Hyperactivity, Irritability |
ORPHA:447980 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Cataract |
ORPHA:2714 |
Legius Syndrome |
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Dystonia, Cognitive impairment, Hyperactivity, Cataract, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Infant Botulism |
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Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
Cutis Marmorata Telangiectatica Congenita |
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Cognitive impairment, Leukocoria |
ORPHA:1556 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Ectopia pupillae |
OMIM:618223 |
Pediatric-Onset Graves Disease |
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Mood swings, Hyperactivity, Irritability, Keratitis |
ORPHA:525731 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Anisocoria, Difficulty walking |
OMIM:618653 |
Citrullinemia Type Ii |
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Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy |
ORPHA:247585 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity |
OMIM:252900 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Dementia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Mental deter... |
OMIM:234200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Low frustration tolerance, Hyperactivity, Aggressive behavior, Shuffling gait |
OMIM:300534 |
Retinoblastoma |
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Heterochromia iridis, Hypopyon, Uveitis, Leukocoria |
ORPHA:790 |
Spastic Paraplegia 29, Autosomal Dominant |
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Hyperactivity |
OMIM:609727 |
Argininemia |
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Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
White-Sutton Syndrome |
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Self-injurious behavior, Aggressive behavior, Iris coloboma, Hyperactivity, Astigmatism |
ORPHA:468678 |
Choreoacanthocytosis |
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Hair-pulling, Lingual dystonia, Loss of ambulation, Bradyphrenia, Oromandibular dystonia, Self-in... |
ORPHA:2388 |
Joubert Syndrome 1 |
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Chorioretinal coloboma, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia |
OMIM:213300 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
X-Linked Intellectual Disability, Cabezas Type |
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Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Intellectual Developmental Disorder, X-Linked 98 |
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Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Purine Nucleoside Phosphorylase Deficiency |
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Hyperactivity, Ataxia |
ORPHA:760 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Happy demeanor, Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pupil morphology, Inabili... |
ORPHA:261552 |
Pituitary Apoplexy |
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Mydriasis |
ORPHA:95613 |
Retinoblastoma |
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Leukocoria |
OMIM:180200 |
Koolen-De Vries Syndrome |
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Conspicuously happy disposition, Hyperactivity, Cataract, Iris hypopigmentation, Anxiety |
OMIM:610443 |
Oculoectodermal Syndrome |
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Limbal dermoid, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Microcornea |
OMIM:600268 |
Mowat-Wilson Syndrome |
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Chorioretinal coloboma, Happy demeanor, Iris coloboma, Cataract, Microcornea, Ectopia pupillae |
OMIM:235730 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... |
ORPHA:581 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Wiedemann-Steiner Syndrome |
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Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety |
ORPHA:319182 |
Dubowitz Syndrome |
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Hyperactivity, Megalocornea, Hypoplasia of the iris, Iris coloboma |
OMIM:223370 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity |
ORPHA:424 |
Wolf-Hirschhorn Syndrome |
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Rieger anomaly, Ectopia pupillae, Iris coloboma |
OMIM:194190 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Cognitive imp... |
OMIM:619475 |
Scorpion Envenomation |
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Mydriasis, Ataxia |
ORPHA:466677 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Decreased corneal reflex, Corneal scarring, Self-mutilation, Hyperactivity, Corneal ulceration, D... |
ORPHA:642 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Gait disturbance, Astigmatism, Hyperactivity, Corneal opacity, Anxiety |
ORPHA:464306 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Cocaine Intoxication |
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Mydriasis |
ORPHA:90068 |
Plague |
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Unsteady gait, Anxiety, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Chorioretinal hypopigmentation, Anxi... |
ORPHA:805 |
Mend Syndrome |
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Hyperactivity, Aggressive behavior, Cataract |
ORPHA:401973 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal pupil morphology, Cognitive impairment, Keratoconus |
ORPHA:286 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Mucopolysaccharidosis Type 2 |
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Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Hyperactivity, C... |
ORPHA:580 |
Sponastrime Dysplasia |
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Microcoria, Congenital aphakia, Cataract |
ORPHA:93357 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Mydriasis |
OMIM:613834 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Dystonia, Self-injurious behavior, Episodic ataxia |
ORPHA:1934 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Hyperactivity |
ORPHA:280651 |