Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract, Hearing impairment |
OMIM:300719 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hearing impairment |
OMIM:312910 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment |
OMIM:274205 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration, Decreased body weight |
OMIM:616311 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Cataract |
ORPHA:2663 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hearing impairment |
OMIM:620270 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Morm Syndrome |
|
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy, Obesity |
OMIM:615995 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... |
ORPHA:599373 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor, Hearing impairment |
ORPHA:401830 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Chorioretinal atrophy, Op... |
OMIM:143200 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age |
ORPHA:85288 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Birdshot Chorioretinopathy |
|
Optic disc pallor, Retinal detachment, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... |
ORPHA:90654 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Tortuosity of conjunctival vessels, Hearing impairment |
OMIM:248510 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract, Small for gestational age |
OMIM:278780 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Fundus atrophy, Optic disc drusen, Pigme... |
OMIM:204000 |
Nathalie Syndrome |
|
Cataract, Hearing impairment |
OMIM:255990 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the antihelix, Hea... |
ORPHA:2489 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis,... |
OMIM:614932 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma, Hearing impairment |
OMIM:120433 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Small for gestational age, Sensorineural heari... |
OMIM:607371 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal p... |
OMIM:616108 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Sensorineural hearing impairme... |
OMIM:612674 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairm... |
OMIM:310600 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Failure to thrive, ... |
OMIM:616881 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, EEG abnormality, Inappropriate laughter, Polyphagia, Iris hypopigmentation |
ORPHA:411515 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia |
ORPHA:500180 |
Stickler Syndrome, Type V |
|
Retinal detachment, Sensorineural hearing impairment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... |
ORPHA:1215 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... |
ORPHA:65 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Polydip... |
OMIM:615986 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Cataract, Sensorineural hearing impairment, Hand tremo... |
OMIM:162400 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration |
ORPHA:3233 |
Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Tremor, Multifocal epileptiform discharges, Obsessive-compuls... |
ORPHA:228360 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, Optic atrophy... |
OMIM:617302 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Abnormal eating behavior, Tongue thr... |
ORPHA:98794 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
ORPHA:99027 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... |
ORPHA:168491 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, Obesity, EEG with generalize... |
ORPHA:163681 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma, Obesity |
OMIM:601794 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Cataract, Tremor, Optic atrophy, Pigmenta... |
ORPHA:90321 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Absen... |
OMIM:612109 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract, Hearing impairment |
OMIM:620327 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Aggressive behavior, Tremor, Tongue thrusting, Opt... |
ORPHA:72 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Sensorineural hearing impairment, Cataract, Dysphagia, Generalized dystonia |
ORPHA:79107 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, A... |
OMIM:256800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Failure to thrive, EEG with gener... |
OMIM:617864 |
Chronic Bilirubin Encephalopathy |
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Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529799 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Tremor... |
OMIM:133540 |
Arthrogryposis, Distal, Type 2A |
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Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... |
OMIM:193700 |
Mend Syndrome |
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Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, ... |
ORPHA:401973 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Idiopathic Panuveitis |
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Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Cockayne Syndrome A |
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Cataract, Abnormal pinna morphology, Retinal atrophy, Abnormal auditory evoked potentials, Tremor... |
OMIM:216400 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Enhanced S-Cone Syndrome |
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Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Dysp... |
OMIM:308940 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Trisomy 10P |
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Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Sympathetic Ophthalmia |
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Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Norrie Disease |
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Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Abnormal repetit... |
ORPHA:649 |
Xeroderma Pigmentosum, Complementation Group D |
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Cataract, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivitis sicc... |
OMIM:278730 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Tremor, EEG with burst s... |
OMIM:615574 |
Tay-Sachs Disease |
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Exaggerated startle response, Tremor, Optic atrophy, Dysphagia, Dystonia, Cherry red spot of the ... |
ORPHA:845 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Sandhoff Disease, Infantile Form |
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Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, F... |
OMIM:617527 |
Autosomal Dominant Optic Atrophy And Cataract |
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Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sandhoff Disease |
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Cherry red spot of the macula, Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Low-set ears, Dystonia, Cherry red spot of the macula, Macrotia, He... |
ORPHA:79255 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Motor tics, Hyperactivity, Tremor, Optic atrophy, Phonic tics, Dysphagia, Blepharospasm, Choreoat... |
OMIM:234200 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Dysphagia, EEG with generalized slow activity |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Dystonia, Dysphagia, Stereotypical hand wringing |
ORPHA:438213 |