Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioratio... |
OMIM:605361 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Dementia, Cerebellar atrophy, Tremor by anatomical site, Cogni... |
ORPHA:98762 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Cerebellar atrophy, Bradykinesia, Hyperactivity, Progressive cerebellar ataxi... |
ORPHA:248111 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Ataxia |
OMIM:613402 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... |
OMIM:619191 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, A... |
ORPHA:98764 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Mental deterioration |
OMIM:615924 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract |
OMIM:246000 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Tremor, Dysdiado... |
OMIM:617145 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract |
OMIM:604307 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Cln5 Disease |
|
Cerebellar atrophy, Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dys... |
ORPHA:228360 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety, Cerebellar hypoplasia |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety, Cerebellar hypoplasia |
OMIM:300979 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia |
OMIM:612716 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior |
OMIM:604317 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract |
ORPHA:2528 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Retinitis Pigmentosa 37 |
|
Cataract |
OMIM:611131 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synaptic transmis... |
ORPHA:683 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Iris coloboma |
OMIM:212550 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract |
ORPHA:2489 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety |
OMIM:616977 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Tremor |
OMIM:618718 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract |
OMIM:257790 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait |
ORPHA:411515 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Tremor, Hyperactivity, Ataxia, Gait ... |
ORPHA:363400 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia |
OMIM:617302 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract |
OMIM:619420 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadoc... |
OMIM:610217 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Cerebellar gliosis, Hyperactivity, Ataxia, Emotio... |
ORPHA:35069 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Cerebellar atrophy, Motor deterioration, Aggressive behavior, Hyperac... |
ORPHA:168491 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal pons morphology |
ORPHA:85327 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619467 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Happy demeanor, Opisthotonus, Aggressive behavior, Self-mutilation, Hyperacti... |
OMIM:103050 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract |
OMIM:614879 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Cerebellar atrophy |
ORPHA:369939 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Cerebellar vermis atrophy, Gait ataxia |
OMIM:300354 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Abnormal cerebellar vermis morphology |
OMIM:613192 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract |
OMIM:613730 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Gomez-Lopez-Hernandez Syndrome |
|
Agenesis of cerebellar vermis, Self-injurious behavior, Cognitive impairment, Hyperactivity, Atax... |
OMIM:601853 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Hyperactivity, At... |
ORPHA:163681 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Self-mutilation, Hyperactivity, Cerebellar ver... |
OMIM:300486 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract |
OMIM:616395 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... |
ORPHA:1942 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior |
ORPHA:101039 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Dystonia, Juvenile-Onset |
|
Cataract |
OMIM:607371 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract |
OMIM:601794 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... |
ORPHA:43 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia |
ORPHA:88616 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract |
ORPHA:363741 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration |
OMIM:610042 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Cataract, Keratitis |
OMIM:619016 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Mental Retardation, Autosomal Dominant 7 |
|
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia |
OMIM:614104 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Cerebellar dysplasia, Tremor, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... |
ORPHA:139396 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia |
ORPHA:228402 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:609625 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Mend Syndrome |
|
Dandy-Walker malformation, Hyperactivity |
OMIM:300960 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... |
OMIM:123450 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dementia, Dystonia, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Ment... |
OMIM:234200 |
Argininemia |
|
Hyperactivity, Spastic gait, Irritability, Cerebellar atrophy |
OMIM:207800 |
Citrullinemia Type Ii |
|
Aggressive behavior, Tremor, Hyperactivity, Irritability, Memory impairment, Lethargy |
ORPHA:247585 |
47,Xyy Syndrome |
|
Cerebellar dysplasia, Hyperactivity, Attention deficit hyperactivity disorder, Dysgenesis of the ... |
ORPHA:8 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Tremor, Hyperactivity, Inability to... |
ORPHA:72 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Angelman Syndrome |
|
Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Keratitis, Cataract, Corneal neovascularization, Conjunctivitis |
OMIM:278730 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:614756 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia |
ORPHA:530983 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hyperactivity, Irritability, Tremor |
ORPHA:525731 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Low frustration tolerance |
ORPHA:363686 |
Joubert Syndrome 1 |
|
Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Aggressive behavior, Self-mut... |
OMIM:213300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
|
Microcornea, Cataract |
OMIM:608279 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration |
OMIM:252930 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Lenticonus, Cataract, Anterior lenticonus |
OMIM:308940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance |
OMIM:300534 |
Legius Syndrome |
|
Dystonia, Cognitive impairment, Hyperactivity, Chiari type I malformation, Attention deficit hype... |
ORPHA:137605 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Self-injurious behavior, Hypoplasia of the pons, Aggressive behavior, Hyperac... |
ORPHA:468678 |
Hyperlysinemia |
|
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait |
ORPHA:2203 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... |
ORPHA:67036 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Falls, Intention tremor, Hyperactivity, Ataxia |
ORPHA:209905 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Cerebellar atrophy, Self-injurious behavior, Tremor, Hyperactivity, Episodic ataxia |
ORPHA:1934 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... |
ORPHA:581 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Hypoplasia of the pons, Hyperactivity, Cerebellar hypoplasia, Abnormal d... |
OMIM:619512 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety |
ORPHA:319182 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Violent behavior, Head titubation, Torticollis, Suicidal ideation, Cognitive impairment... |
OMIM:619475 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Mend Syndrome |
|
Dandy-Walker malformation, Hyperactivity, Aggressive behavior |
ORPHA:401973 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Chiari malformation, Agoraphobia, Self-injurious behavior... |
ORPHA:353281 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperacti... |
ORPHA:805 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Olivopontocerebellar hypoplasia |
ORPHA:457284 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Hyperactivity, Difficulty walking, Abnormal emotion/affect behavior, Nail-biting |
ORPHA:642 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Cerebellar cortical atrophy |
ORPHA:48652 |