Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... |
ORPHA:280397 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... |
OMIM:619191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... |
OMIM:615516 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Dysphagia |
OMIM:300858 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... |
ORPHA:411515 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis |
ORPHA:1885 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... |
ORPHA:98818 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Ataxia |
OMIM:615924 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis |
ORPHA:247815 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Serotonin Syndrome |
|
Restlessness, Confusion, Irritability, Agitation, Mental deterioration, Delirium, Mydriasis |
ORPHA:43116 |
Intestinal Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Dysphagia, Mydriasis |
ORPHA:230800 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Charcot-Marie-Tooth Disease Type 1E |
|
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... |
ORPHA:90658 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Miller Fisher Syndrome |
|
Anisocoria, Ataxia, Dysphagia, Mydriasis |
ORPHA:98919 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... |
ORPHA:168491 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... |
ORPHA:1764 |
Trichinellosis |
|
Confusion, Anisocoria, Irritability, Conjunctivitis, Abnormal uvea morphology, Dysphagia, Memory ... |
ORPHA:863 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... |
ORPHA:449291 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... |
ORPHA:43 |
Iatrogenic Botulism |
|
Dysphagia, Mydriasis |
ORPHA:254509 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Wound Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178475 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Nephronophthisis 11 |
|
Anisocoria, Polydipsia |
OMIM:613550 |
Superficial Siderosis |
|
Ataxia, Unsteady gait, Dysmetria, Limb ataxia, Anisocoria, Progressive gait ataxia, Dysdiadochoki... |
ORPHA:247245 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Revesz Syndrome |
|
Megalocornea, Ataxia, Leukocoria, Progressive neurologic deterioration |
OMIM:268130 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... |
ORPHA:163681 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Proteus-Like Syndrome |
|
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis |
ORPHA:2969 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Arachnoid Cyst |
|
Inability to walk, Depression, Social and occupational deterioration, Irritability, Disinhibition... |
ORPHA:2356 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... |
ORPHA:233 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis |
ORPHA:178478 |
Botulism |
|
Dysphagia, Mydriasis |
ORPHA:1267 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... |
OMIM:610217 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Foodborne Botulism |
|
Dysphagia, Mydriasis |
ORPHA:228371 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Progressive neurol... |
ORPHA:2131 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... |
ORPHA:139396 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity |
OMIM:608747 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Ataxia, Dysphagia |
OMIM:615510 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Ataxia |
OMIM:231550 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Depression, Buphth... |
ORPHA:534 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Attention deficit hyperactivity disorder |
OMIM:618223 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Cataract |
ORPHA:45358 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ataxia, Confusion, Mydriasis |
ORPHA:79138 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Inability to walk, Difficulty walking, Gait ataxia |
ORPHA:99949 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Knobloch Syndrome 1 |
|
Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d... |
OMIM:267750 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Cognitive impairment |
ORPHA:1556 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
Pituitary Apoplexy |
|
Confusion, Mydriasis |
ORPHA:95613 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Cocaine Intoxication |
|
Mania, Agitation, Delirium, Mydriasis |
ORPHA:90068 |
Retinoblastoma |
|
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis |
ORPHA:790 |
Osteopetrosis, Autosomal Recessive 5 |
|
Irritability, Mydriasis |
OMIM:259720 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior, Anisocoria, Attention deficit hyperactivity disorde... |
OMIM:613406 |
Wolf-Hirschhorn Syndrome |
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Abnormal repetitive mannerisms, Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Broad-based gait, Cataract, Inability to walk, Abnormal pupil morphology, Dysphagia... |
ORPHA:261552 |
Retinoblastoma |
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Leukocoria |
OMIM:180200 |
Plague |
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Anorexia, Unsteady gait, Depression, Conjunctival hyperemia, Delirium, Mydriasis |
ORPHA:707 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Mydriasis |
OMIM:613834 |
Scorpion Envenomation |
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Restlessness, Ataxia, Mydriasis |
ORPHA:466677 |
Mowat-Wilson Syndrome |
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Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma |
OMIM:235730 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Mydriasis |
OMIM:619351 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal pupil morphology, Cognitive impairment |
ORPHA:286 |
Sponastrime Dysplasia |
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Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Craniotubular Dysplasia, Ikegawa Type |
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Mydriasis |
OMIM:619727 |