Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Wagner Vitreoretinopathy |
|
Myopia, Cataract, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Opti... |
OMIM:143200 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... |
ORPHA:504476 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Scotoma, Optic atrophy, Reduced visual acuity, Hearing impairment |
OMIM:165300 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Spinocerebellar Ataxia 6 |
|
Ataxia, Vertigo, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia, Loss of amb... |
OMIM:183086 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Myopia, Retinal detachment, Central scotoma, Reduced ... |
OMIM:300476 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal... |
ORPHA:90654 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Retinal Dystrophy And Obesity |
|
Myopia, Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Myopia, Optic atrophy |
OMIM:600510 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Myopia, Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... |
ORPHA:49382 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of ... |
OMIM:180100 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Myopia, Optic atrophy, Visual impairment, Abnormality of retinal pigmentation |
ORPHA:1574 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Red-green dyschromatopsia, Central scotoma, Reduced vi... |
OMIM:616170 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Myopia, Optically empty vitreous, Rhegmatogenous retinal detachment, Hearing impairment |
OMIM:609508 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal auton... |
ORPHA:247234 |
Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... |
OMIM:620342 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Myopia, Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrim... |
OMIM:300614 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Choroidal neovascularization, Blind-spot enlargment, Vitritis, Photophobia, Atte... |
ORPHA:179 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Cataract, Constriction of peripheral visual field, Chorioretinal degeneration,... |
ORPHA:414 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... |
ORPHA:95 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hearing impairment |
OMIM:620270 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Cataract, Ring scotoma, Bul... |
OMIM:312600 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia 27A |
|
Abnormal vestibulo-ocular reflex, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:193003 |
Cataract 12, Multiple Types |
|
Progressive cataract, Myopia, Developmental cataract |
OMIM:611597 |
Cataract 42 |
|
Myopia, Cataract, Developmental cataract |
OMIM:115900 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Myopia, Optic atrophy |
ORPHA:320396 |
Usher Syndrome Type 3 |
|
Cataract, Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea mo... |
ORPHA:231183 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Reduced visual acuity, Pho... |
OMIM:617879 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Myopia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... |
OMIM:616544 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Sensorineural hearing impairment, High myopia, Vitreoretinopathy |
OMIM:614284 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... |
ORPHA:178333 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... |
OMIM:300843 |
Lamb-Shaffer Syndrome |
|
Posteriorly rotated ears, Myopia, Optic atrophy, Low-set ears |
OMIM:616803 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Myopia, Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac... |
OMIM:152950 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Myopia, Cataract, Retinal thinning, Asteroid hyalosis, Conductive hearing impairment |
OMIM:132450 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Bothnia Retinal Dystrophy |
|
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... |
ORPHA:85128 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Ambly... |
ORPHA:71213 |
Usher Syndrome Type 1 |
|
Cataract, Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea mo... |
ORPHA:231169 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Myopia, Optic atrophy |
OMIM:613162 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Abnormality of refraction, Diplopia, Visual field defect, Macular degen... |
ORPHA:75382 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Autosomal Recessive Stickler Syndrome |
|
Myopia, Retinal detachment, Cataract, Amblyopia, Sensorineural hearing impairment, Astigmatism, V... |
ORPHA:250984 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Myopia, Posteriorly rotated ears, Chorioretinal degeneration, Posterior subcapsular cataract, Mic... |
OMIM:615458 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Blindness, Cataract, Peripheral retinal avascularization, Rhegmatogenous retinal... |
ORPHA:891 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Cataract, Vitreous floaters, Lattice retinal de... |
OMIM:614292 |
Glaucoma 1, Open Angle, A |
|
Myopia, Abnormal iris vasculature |
OMIM:137750 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Ectopia lentis, Abnormal helix morphology, Iris colo... |
ORPHA:1259 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Myopia, Chorioretinal dystrophy, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
X-Linked Intellectual Disability, Najm Type |
|
Myopia, Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Chorio... |
ORPHA:163937 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Blindness, Cataract, Sensorineural hearing impairment, Nyctalopia, Fundus atrophy, R... |
OMIM:204000 |
Cataract-Microcornea Syndrome |
|
Myopia, Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, R... |
OMIM:618144 |
Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Congenital Stationary Night Blindness |
|
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal b... |
OMIM:608553 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Blindness, Cataract, Nyctalopia, Fundus atrophy, Reduced visual a... |
OMIM:204100 |
Exudative Vitreoretinopathy 6 |
|
Myopia, Retinal detachment, Cataract, Tractional retinal detachment, Patchy atrophy of the retina... |
OMIM:616468 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Myopia, Cataract, Rod-cone dystrophy |
OMIM:136300 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Hypertryptophanemia |
|
Myopia, Sensorineural hearing impairment, Visual impairment |
OMIM:600627 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of neuronal migration, Ab... |
ORPHA:65 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness, Cataract, Retinal detachment, Optic nerve hypoplasia, Polymicrogyria, Type II ... |
OMIM:615181 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Flat cornea, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Microcornea, Sh... |
OMIM:602499 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Optic disc pallor, Retinal detachment, Cataract, Abnormality of retinal pigmentation, Chorioretin... |
OMIM:251270 |
Stickler Syndrome Type 1 |
|
Myopia, Retinal detachment, Cataract, Visual loss, Sensorineural hearing impairment, Abnormal vit... |
ORPHA:90653 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Rod-cone dystro... |
OMIM:600059 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,... |
OMIM:614186 |
Sveinsson Chorioretinal Atrophy |
|
Peripapillary chorioretinal atrophy, Myopia, Astigmatism |
OMIM:108985 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver... |
OMIM:610202 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, An... |
OMIM:619649 |
Neuroectodermal Melanolysosomal Disease |
|
Myopia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ... |
ORPHA:33445 |
Leber Congenital Amaurosis 15 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Myopia, Constriction of peripheral visua... |
OMIM:613843 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Macrotia... |
OMIM:609425 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Usher Syndrome Type 2 |
|
Myopia, Cataract, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:231178 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Myopia, Retinal dysplasia, Low-set ears |
ORPHA:96183 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... |
OMIM:304700 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Myopia, Cataract, Sensorineural hearing impairment, Abnormal vitreous humor m... |
OMIM:604841 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Van Bogaert-Hozay Syndrome |
|
Myopia, Astigmatism, Abnormal pinna morphology |
OMIM:277150 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, A... |
ORPHA:401777 |
Juvenile Glaucoma |
|
Optic neuropathy, Central scotoma, Abnormality iris morphology, Peripheral visual field loss, Hig... |
ORPHA:98977 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Myopia, Cataract, Type II lissencephaly, Optic atrophy, Retinal dysplasia, Visual impairment |
ORPHA:272 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity, Astigmatism |
OMIM:300600 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Myopia, Sensorineural hearing impairment, Retinal dystrophy |
OMIM:616756 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration |
ORPHA:3233 |
Achondrogenesis Type 2 |
|
Retinal detachment, Myopia, Cataract, Abnormal vitreous humor morphology, Lens subluxation, Heari... |
ORPHA:93296 |
Renal Coloboma Syndrome |
|
Myopia, Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma, Visual impairment, Hearing ... |
ORPHA:1475 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Myopia, Ectopia lentis, Hearing impairment |
ORPHA:2325 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,... |
OMIM:618718 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Abnormality of retinal pigmentation, Abnormal retinal ... |
ORPHA:1390 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Posterior subcapsular cataract, Nyctalopia, Chorioretinal atrophy, Foveoschisi... |
OMIM:258870 |
Usher Syndrome |
|
Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Tin... |
ORPHA:886 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Myopia, Astigmatism, Low-set ears, Amblyopia |
OMIM:620021 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness |
|
High myopia, Hearing impairment |
OMIM:226950 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Achromatopsia 3 |
|
Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops... |
OMIM:262300 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
Retinitis Pigmentosa 23 |
|
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... |
OMIM:300424 |
Glaucoma, Primary Open Angle |
|
Myopia |
OMIM:137760 |
Stickler Syndrome, Type Iv |
|
Sensorineural hearing impairment, Astigmatism, Degenerative vitreoretinopathy, High myopia |
OMIM:614134 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
Chromosome Xp11.3 Deletion Syndrome |
|
Blindness, Cataract, Moderate myopia, Constriction of peripheral visual field, Posterior subcapsu... |
OMIM:300578 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Myopia, Astigmatism, Optic atrophy |
OMIM:248000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Microcornea, Myopia, Sensorineural hearing impairment |
ORPHA:300179 |
Cone-Rod Dystrophy 18 |
|
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... |
OMIM:615374 |
Stickler Syndrome, Type Vi |
|
Sensorineural hearing impairment, Astigmatism, High myopia, Moderate myopia |
OMIM:620022 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Myopia, Abnormal pinna morphology, Visual loss, Abnormal optic nerve morphology, Low-set ears, Hy... |
ORPHA:77300 |
5Q35 Microduplication Syndrome |
|
Myopia |
ORPHA:228415 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Myopia, Blindness, Constriction of peripheral visual field, Retinal atro... |
OMIM:617406 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Myopia 15, Autosomal Dominant |
|
Myopia |
OMIM:612717 |
Myopia 9 |
|
Myopia |
OMIM:609258 |
Myopia 10 |
|
Myopia |
OMIM:609259 |
Myopia 7 |
|
Myopia |
OMIM:609256 |
Myopia 8 |
|
Myopia |
OMIM:609257 |
Myopia 1, X-Linked |
|
Myopia |
OMIM:310460 |
Myopia 18, Autosomal Recessive |
|
Myopia |
OMIM:255500 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Red-green dyschromatopsia, Patchy a... |
ORPHA:67042 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Myopia |
OMIM:174310 |
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 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Donnai-Barrow Syndrome |
|
Myopia, Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Sensorineural hearing im... |
ORPHA:2143 |
Spondylo-Ocular Syndrome |
|
Myopia, Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Visual loss, Abnormal antih... |
ORPHA:85194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Myopia, Optic atrophy |
OMIM:613151 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, High myopia, Chorioretinal coloboma, Iris coloboma, Hearing impairment |
OMIM:617662 |
Myopia 17, Autosomal Dominant |
|
Retinal hole, Presenile cataracts, High myopia |
OMIM:608367 |
Norrie Disease |
|
Retinal detachment, Blindness, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic... |
OMIM:310600 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Myopia, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane,... |
ORPHA:1067 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Myopia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Cornea... |
OMIM:614170 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy |
OMIM:605899 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
Desanto-Shinawi Syndrome |
|
Myopia, Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, As... |
OMIM:616708 |
Cln5 Disease |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w... |
ORPHA:228360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Myopia, Retinal dystrophy, Facial palsy, Developmental cataract |
OMIM:613155 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Failure to thrive, Optic atrophy |
OMIM:274270 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Deafness And Myopia |
|
Sensorineural hearing impairment, High myopia |
OMIM:221200 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Myopia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial di... |
OMIM:611890 |
Microphthalmia With Brain And Digit Anomalies |
|
Myopia, Cataract, Retinal dystrophy, Sclerocornea, Sensorineural hearing impairment, Microcornea,... |
ORPHA:139471 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Nyctalopia, Progre... |
ORPHA:52427 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
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 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Myopia, Cataract, Hearing impairment |
ORPHA:1856 |
Woolly Hair Nevus |
|
Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary membrane |
ORPHA:79414 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myopia, Optic atrophy, Visual impairment |
OMIM:617810 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Amblyopia, Gray matter heterotopia |
OMIM:615960 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Visual los... |
ORPHA:98964 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Myopia, Retinal detachment, Cataract, Corneal opacity, Simplified gyral pattern, Lissencephaly, P... |
OMIM:613153 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Myopia, Posteriorly rotated ears, Visual impairment |
OMIM:300887 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG ab... |
ORPHA:500180 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Large fleshy ears, Myopia, Astigmatism, Hypermetropia |
OMIM:619556 |
Flynn-Aird Syndrome |
|
Myopia, Cataract, Progressive sensorineural hearing impairment, Rod-cone dystrophy, Visual impair... |
ORPHA:2047 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Myopia, Rod-cone dystrophy, Hearing impairment |
OMIM:615996 |
Optic Atrophy 11 |
|
Myopia, Optic nerve hypoplasia, Amblyopia, Macrotia, Optic atrophy, Hypermetropia, Facial diplegi... |
OMIM:617302 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Reduced visual acuity |
OMIM:613216 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract, High myopia |
OMIM:619781 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopia, Cataract, Corneal dystrophy |
ORPHA:1369 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Myopia, Cerebral visual impairment, Sensorineural hearing impairment, Gray mat... |
OMIM:617201 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Sensorineural hearing impairment, Optic atrophy, Low-set ears |
ORPHA:2971 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment |
ORPHA:1620 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Corneal erosion, Photophobia, Macular degeneration, ... |
ORPHA:816 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Myopia, Visual loss, Keratoglobus, Abnormal cornea morphology, Decreased corneal thi... |
OMIM:229200 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Cerebral visual impairment, Anisometropia, Optic atrop... |
ORPHA:494344 |
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 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Myopia, Posteriorly rotated ears, Amblyopia, Hypermetropia, Astigmatism, Chorioretinal coloboma, ... |
ORPHA:284169 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Posteriorly rotated ears, Corneal dystrophy, Nyctalopia, High myopia, Low-set ears, Rod-c... |
OMIM:617763 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Myopia |
OMIM:614199 |
Apert Syndrome |
|
Sensorineural hearing impairment, Corneal erosion, Optic atrophy, Abnormal semicircular canal mor... |
ORPHA:87 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopia, Myopic astigmatism, Moderate hypermetropia, B... |
OMIM:614077 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Myopia, Posteriorly rotated ears, Low-set ears |
ORPHA:444002 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613983 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Myopia, Blindness, Cataract, Retinal detachment, Optic nerve hypoplasia, Optic atrophy, Abnormali... |
ORPHA:370959 |
Harel-Yoon Syndrome |
|
Myopia, Developmental cataract, Optic atrophy, Corneal opacity |
OMIM:617183 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Myopia, Blue irides, Reduced visual acuity, Hypopigmentation of the fund... |
OMIM:203200 |
Aniridia 2 |
|
Cataract, Amblyopia, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Redu... |
OMIM:309300 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Muscle-Eye-Brain Disease |
|
Myopia, Cataract, Optic atrophy, Visual impairment |
ORPHA:588 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Myopia |
OMIM:203550 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Myopia, Bone spicule pigmentation of the retina, Nyctalopia... |
OMIM:617023 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Myopia, Hypermetropia, Protruding ear |
OMIM:619595 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Fundus atrophy, Optic atrophy, Abnormal helix morphology |
ORPHA:1970 |
Temtamy Syndrome |
|
Myopia, Ectopia lentis, Lop ear, Lens luxation, Low-set ears, Chorioretinal coloboma, Iris coloboma |
OMIM:218340 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Myopia |
ORPHA:309288 |
Folinic Acid-Responsive Seizures |
|
Myopia, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79097 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Myopia, Optic atrophy |
OMIM:618688 |
Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... |
OMIM:615860 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Myopia, Abnormal retinal morphology, Visual impairment |
ORPHA:2786 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Myopia, Atresia of the exter... |
ORPHA:3236 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Amblyopia, Optic disc coloboma |
ORPHA:35737 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Myopia, Low-set ears, Protruding ear |
OMIM:618522 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia... |
OMIM:225200 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Myopia, Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Polydactyly-Myopia Syndrome |
|
Myopia |
ORPHA:2917 |
Mehmo Syndrome |
|
Myopia, Macrotia |
OMIM:300148 |
16P11.2P12.2 Microduplication Syndrome |
|
Myopia |
ORPHA:261204 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Myopia, Ectopia lentis, Microspherophakia, Deep anterior chamber, Hypermetropia, Bu... |
OMIM:251750 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Myopia, Cataract, Retinal thinning, Asteroid hyalosis, Hearing impairment |
ORPHA:166011 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Myopia, Abnormal pupil morphology, Ocular albinism, Abnormal macular mor... |
ORPHA:54 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... |
OMIM:601455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Myopia, Blindness, Cataract, Corneal opacity, Optic nerve hypoplasia, Agyria, Retinal atrophy, Re... |
OMIM:236670 |
4H Leukodystrophy |
|
Myopia, Cataract, Optic atrophy |
ORPHA:289494 |
Split-Hand/Foot Malformation 3 |
|
Myopia, Abnormal pinna morphology |
OMIM:246560 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, High myopia |
OMIM:301076 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Abnormal pinna mo... |
OMIM:614104 |
Alport Syndrome 2, Autosomal Recessive |
|
Myopia, Cataract, Corneal erosion, Anterior lenticonus, Hearing impairment |
OMIM:203780 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Stickler Syndrome, Type I |
|
Myopia, Blindness, Cataract, Retinal detachment, Sensorineural hearing impairment, Vitreoretinopa... |
OMIM:108300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Ring scotoma, Retinal pigment epithelial atrophy, Epi... |
OMIM:616959 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Cardiofaciocutaneous Syndrome 2 |
|
Myopia, Posteriorly rotated ears, Low-set ears |
OMIM:615278 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Myopia, Astigmatism, Low-set ears |
OMIM:615761 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Myopia, Ectopia lentis |
OMIM:110150 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Myopia, Optic atrophy |
OMIM:618800 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Myopia, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy |
ORPHA:496790 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG wi... |
ORPHA:1929 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Myopia, Sensorineural hearing impairment, Retinal dystrophy |
ORPHA:464282 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Myopia, Hearing impairment |
ORPHA:3218 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Myopia, Ectopia lentis |
ORPHA:833 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Myopia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myopia, Retinal detachment, Cataract, Agyria, Optic atrophy, Hypermetropia, Lissencephaly, Retina... |
OMIM:253800 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Blurred vision, Developmental cataract, Corneal stromal edem... |
ORPHA:566 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Myopia, Macrotia, Low-set ears |
OMIM:615433 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia |
ORPHA:370022 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Abnormal pinna morphology, Cerebral visual impairment, Optic atrophy, Astigmatism |
ORPHA:480898 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Myopia, Optic atrophy, Visual impairment |
ORPHA:529665 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Myopia, Underdeveloped superior crus of antihelix, Congenital sensorineural hearing impairment, P... |
ORPHA:293967 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Frontoocular Syndrome |
|
Myopia, Posteriorly rotated ears, Low-set ears |
OMIM:605321 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Myopia, Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Myopia, Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Posteriorly rotated ears, Retinal dystrophy, Sensorineural hearing ... |
OMIM:222448 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Myopia, Optic atrophy, Facial palsy |
OMIM:608804 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... |
OMIM:216550 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Cataract, Sensorineural hearing impairment, Optic atrophy, High myopia, Bilateral sens... |
OMIM:220500 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Astigmatism |
OMIM:616875 |
Jaberi-Elahi Syndrome |
|
Myopia, Cataract, Optic atrophy, Protruding ear, Low-set ears, Visual impairment |
OMIM:617988 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... |
OMIM:120330 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Myopia, Bone spicule pigmentation of the retina, Cataract, ... |
OMIM:209900 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myopia, Visual loss, Optic atrophy, Reduced visual acuity, Opto-chiasmatic atrophy, Progressive v... |
OMIM:615491 |
Oculoauricular Syndrome |
|
Ultra-low vision with retained light perception, Sclerocornea, Microcornea, Iris cyst, Chorioreti... |
OMIM:612109 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
Marshall Syndrome |
|
Myopia, Retinal detachment, Cataract, Amblyopia, Ectopia lentis, Sensorineural hearing impairment... |
ORPHA:560 |
Pontocerebellar Hypoplasia, Type 8 |
|
Myopia, Posteriorly rotated ears, Cerebral visual impairment, Hypermetropia, Astigmatism, Low-set... |
OMIM:614961 |
Cri-Du-Chat Syndrome |
|
Myopia, Cataract, Abnormal pinna morphology, Optic atrophy, Low-set ears, Stenosis of the externa... |
OMIM:123450 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Failure to thrive, Hearing impairment |
ORPHA:369939 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Decreased body weight, Hearing impairment |
OMIM:300958 |
16Q24.3 Microdeletion Syndrome |
|
Myopia, Optic nerve hypoplasia, Periventricular heterotopia, Protruding ear, Astigmatism, Chronic... |
ORPHA:261250 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Myopia, Hypermetropia, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Hearing impair... |
ORPHA:369891 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Myopia, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iris, A... |
ORPHA:2479 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Myopia, Choroideremia, Developmental cataract |
OMIM:116600 |
Xp22.3 Microdeletion Syndrome |
|
Myopia, Opacification of the corneal stroma |
ORPHA:1643 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Myopia, Myopic astigmatism, Bilateral conductive hearing impairment, Low-set ears |
OMIM:617802 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Obesity, EEG with ge... |
ORPHA:163681 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, High myopia, Ectopia lentis |
OMIM:614819 |
Short Syndrome |
|
Myopia, Rieger anomaly, Cataract, Sensorineural hearing impairment, Astigmatism, Low-set ears, Hi... |
OMIM:269880 |
Cornelia De Lange Syndrome 5 |
|
Myopia, Hearing impairment |
OMIM:300882 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Myopia |
OMIM:300210 |
Stiff Skin Syndrome |
|
Myopia, Cataract |
OMIM:184900 |
Kniest Dysplasia |
|
Myopia, Retinal detachment, Cataract, Recurrent otitis media, Conductive hearing impairment |
OMIM:156550 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
White-Sutton Syndrome |
|
Myopia, Posteriorly rotated ears, Optic nerve hypoplasia, Mild myopia, Sensorineural hearing impa... |
OMIM:616364 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypsarrhyth... |
OMIM:619913 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Myopia, Optic atrophy |
OMIM:607694 |
Microcoria, Congenital |
|
Microcoria, Myopia, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Reduced visual acuity, Re... |
ORPHA:79098 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Myopia, Optic atrophy |
ORPHA:313892 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Myopia, Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Cho... |
ORPHA:2707 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Visual loss, Corneal erosion, Sensorineural hearing impair... |
ORPHA:90354 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Myopia |
ORPHA:2475 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Myopia, Cataract, Optic atrophy, Reduced visual acuity, Ectopia pupillae, Astigmatism |
OMIM:618727 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macro... |
OMIM:617864 |
Weill-Marchesani Syndrome |
|
Visual loss, Cataract, High myopia, Ectopia lentis |
ORPHA:3449 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Myopia, Sensorineural hearing impairment, Cataract, Low-set ears |
ORPHA:85321 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Myopia, Rieger anomaly, Retinal detachment, Primary congenital glaucoma, Buphthalmos, Bilateral s... |
ORPHA:521445 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Alport Syndrome 1, X-Linked |
|
Myopia, Sensorineural hearing impairment, Corneal erosion, Developmental cataract, Anterior lenti... |
OMIM:301050 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cataract, Posteriorly rotated ears, Mild myopia, Sensorineural hearing impair... |
ORPHA:1427 |
Sengers Syndrome |
|
Myopia, Cataract, Developmental cataract |
OMIM:212350 |
Congenital Ptosis |
|
Congenital Horner syndrome, Myopia, Congenital facial diplegia, Amblyopia, Abnormality of refract... |
ORPHA:91411 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Myopia, Sensorineural hearing impairment, Photophobia, Conjunctivitis |
OMIM:242150 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Myopia, Cataract, Corneal arcus, Low-set ears, Macrotia |
OMIM:219150 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Myopia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Cardiofaciocutaneous Syndrome 4 |
|
Myopia, Cataract, Optic nerve hypoplasia |
OMIM:615280 |
19P13.3 Microduplication Syndrome |
|
Myopia, Posteriorly rotated ears, Amblyopia, Hypermetropia, Microtia, Low-set ears |
ORPHA:447980 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Myopia, Abnormal pinna morphology, Facial palsy, Protruding ear |
ORPHA:3068 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Myopia, Optic atrophy, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromat... |
OMIM:614800 |
Distal Deletion 10Q |
|
Myopia, Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facia... |
ORPHA:96148 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Myopia, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual... |
ORPHA:73272 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia |
OMIM:619239 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Pachygyria, Myopia, Astigmatism, Optic atrophy |
OMIM:619576 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Abnormality of refraction, Blue irides, Ocular albinism, Reduced... |
OMIM:203100 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Myopia, Abnormal pinna morphology, Abnormality of the middle e... |
ORPHA:949 |
Schuurs-Hoeijmakers Syndrome |
|
Myopia, Macrotia, Low-set ears |
OMIM:615009 |
B4Galt1-Cdg |
|
Myopia, Low-set ears, High myopia |
ORPHA:79332 |
White-Sutton Syndrome |
|
Myopia, Blindness, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Hyp... |
ORPHA:468678 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Myopia, Cerebral visual impairment, Amblyopia, Optic atrophy, Hypermetropia, Astigmatism |
OMIM:618493 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Myopia, Optic atrophy, Autonomic bladder dysfunction |
ORPHA:447896 |
Noonan Syndrome 6 |
|
Myopia, Sensorineural hearing impairment, Low-set ears |
OMIM:613224 |
Paganini-Miozzo Syndrome |
|
Microtia, Posteriorly rotated ears, Low-set ears, High myopia |
OMIM:301025 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking |
ORPHA:320406 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Sensorineural hearing impairment, Diplopia, Amyloid deposition in the vitreous humor, High myopia... |
OMIM:105210 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Cataract, Retinal detachment, Chorioretinal dysplasia, Retinal dystrophy, Ambl... |
ORPHA:2526 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... |
ORPHA:168491 |
Cowden Syndrome 5 |
|
Myopia, Cataract, Angioid streaks of the fundus, Hearing impairment |
OMIM:615108 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Dystonia, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait disturbance, Abn... |
ORPHA:35069 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision... |
ORPHA:83461 |
Marshall Syndrome |
|
Myopia, Retinal detachment, Cataract, Lens luxation, Sensorineural hearing impairment, Vitreoreti... |
OMIM:154780 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Myopia, Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, Abnormality... |
ORPHA:2719 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Myopia, Optic disc hypoplasia |
OMIM:617873 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Oculodentodigital Dysplasia |
|
Myopia, Neurogenic bladder, Cataract, External ear malformation, Optic atrophy, Abnormality of th... |
ORPHA:2710 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Myopia, Hearing impairment |
ORPHA:93346 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Myopia, Hypermetropia, Hearing impairment |
ORPHA:404473 |
Neuhauser Syndrome |
|
Iridodonesis, Myopia, Cupped ear, Large fleshy ears, Hypoplasia of the iris, Megalocornea |
OMIM:249310 |
Gapo Syndrome |
|
Keratoconus, Myopia, Optic atrophy, Low-set ears, Visual impairment, Hearing impairment |
ORPHA:2067 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Myopia 23, Autosomal Recessive |
|
Reduced visual acuity, Visual impairment, High myopia |
OMIM:615431 |
Kury-Isidor Syndrome |
|
High myopia, Exudative vitreoretinopathy, Astigmatism, Low-set ears, Recurrent otitis media |
OMIM:619762 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Retinal dystrophy, High myopia, Buphthalmos, Polymicrogyria, Agyria |
ORPHA:370997 |
Cowden Syndrome 6 |
|
Myopia, Cataract, Angioid streaks of the fundus, Hearing impairment |
OMIM:615109 |
Cataract 16, Multiple Types |
|
Retinal dystrophy, High myopia, Developmental cataract, Posterior polar cataract, Lenticonus |
OMIM:613763 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Myopia, Low-set ears |
ORPHA:2180 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Myopia, Optic atrophy, High myopia |
OMIM:614381 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Myopia, Astigmatism, Abnormal pinna morphology |
OMIM:618109 |
Schwartz-Jampel Syndrome, Type 1 |
|
Myopia, Cataract, Microcornea, Low-set ears, Overfolded helix |
OMIM:255800 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Constriction of p... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 66 |
|
Myopia, Astigmatism, Hypermetropia |
OMIM:618067 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Myopia, Optic atrophy, Low-set ears |
OMIM:619383 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Myopia, Cupped ear, Lens coloboma |
OMIM:618914 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Myopia, Corneal opacity, Amblyopia, Retinal arteriolar tortuosity, Polycoria, Reduced visual acui... |
OMIM:175780 |
Smith-Magenis Syndrome |
|
Retinal detachment, Myopia, Microcornea, Conductive hearing impairment, Chronic otitis media |
ORPHA:819 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Myopia, Cataract, Posteriorly rotated ears, Abnormal cortical gyration, Hypermetropia, Astigmatis... |
OMIM:300968 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
16P12.1P12.3 Triplication Syndrome |
|
Hypermetropia, Large earlobe, Myopia, Low-set ears |
ORPHA:485405 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Myopia, Cataract, Hypopigmentation of the fundus |
ORPHA:163649 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Conductive hearing impairment, Myopia, Sensorineural hearing impairment, Low-set, posteriorly rot... |
ORPHA:1307 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, High myopia |
ORPHA:1117 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Myopia, Posteriorly rotated ears, Underfolded helix, Large earlobe, Low-set ears |
OMIM:618316 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Myopia |
ORPHA:126 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdia... |
OMIM:610217 |
Alport Syndrome 3A, Autosomal Dominant |
|
Myopia, Sensorineural hearing impairment, Anterior polar cataract, Lenticonus, Hearing impairment |
OMIM:104200 |
Down Syndrome |
|
Myopia, Cataract, Aganglionic megacolon, Round ear, Conductive hearing impairment |
ORPHA:870 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Myopia, Posteriorly rotated ears, Low-set ears |
OMIM:618430 |
Schaaf-Yang Syndrome |
|
Myopia, Low-set ears |
OMIM:615547 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Myopia, Lop ear, Ectopia lentis |
OMIM:130000 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, EEG abnormality, Progressive gait ... |
OMIM:105830 |
Emanuel Syndrome |
|
Myopia, Hypermetropia, Astigmatism, Recurrent otitis media, Low-set ears, Severe hearing impairme... |
ORPHA:96170 |
Knobloch Syndrome |
|
Myopia, Retinal detachment, Cataract, Ectopia lentis, Visual loss, Abnormal vitreous humor morpho... |
ORPHA:1571 |
Emanuel Syndrome |
|
Myopia, Astigmatism, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment |
OMIM:609029 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... |
ORPHA:138 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, High myopia, Shallow anterior chamber, Posterior synechiae of the a... |
OMIM:613195 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, High myopia, Abnormal cornea morphology, Pachygyria, Hearing impairment |
ORPHA:357058 |
Cohen Syndrome |
|
Myopia, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Sensorineural hearing impai... |
ORPHA:193 |
Familial Dysautonomia |
|
Myopia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Opt... |
ORPHA:1764 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Cataract, Retinal atrophy, Retinal degeneration, Optic atrophy, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Myopia, Retinal detachment, Corneal opacity, Amblyopia, Abnormality of neurona... |
ORPHA:464311 |
Myopia 22, Autosomal Dominant |
|
Reduced visual acuity, High myopia |
OMIM:615420 |
Char Syndrome |
|
Myopia, Hearing impairment |
ORPHA:46627 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Myopia, Hypermetropia |
OMIM:618092 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Hypermetropia, Myopia, Hemianopia, Low-set ears |
ORPHA:404440 |
Classic Homocystinuria |
|
Myopia, Retinal detachment, Cataract, Abnormality of retinal pigmentation, Amblyopia, Ectopia len... |
ORPHA:394 |
19P13.12 Microdeletion Syndrome |
|
Myopia, External ear malformation, Sensorineural hearing impairment, Low-set ears, Conductive hea... |
ORPHA:254346 |
Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
Bone Marrow Failure Syndrome 3 |
|
Myopia, Retinal dystrophy, Cupped ear, Hypermetropia, Astigmatism, Retinal dysplasia, Hearing imp... |
OMIM:617052 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal detachment, Band keratopathy, Ch... |
OMIM:267750 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Myopia, Sensorineural hearing impairment, Cataract, Low-set ears |
OMIM:612394 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Myopia, Retinal detachment, Abnormal pinna morphology, Hypermetropia, Microcornea, Abnormality of... |
ORPHA:1900 |
Mesomelia-Synostoses Syndrome |
|
Myopia, Hearing impairment |
ORPHA:2496 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Myopia, Cataract, Microcornea, Large earlobe, Low-set ears, Persistent pupillary membrane |
OMIM:257850 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Myopia, Pachygyria, Polymicrogyria, Low-set ears |
OMIM:219200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Decreased body weight |
OMIM:608747 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Retinal detachment, External ear malformation, Protrud... |
ORPHA:2953 |
Fountain Syndrome |
|
Myopia, Sensorineural hearing impairment, Visual impairment |
ORPHA:3219 |
Van Den Bosch Syndrome |
|
Choroideremia, High myopia |
ORPHA:3417 |
Cowden Syndrome 1 |
|
Myopia, Cataract, Angioid streaks of the fundus, Hearing impairment |
OMIM:158350 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Macrotia, Optic atrophy, Gait disturbance, D... |
ORPHA:90321 |
Cranioectodermal Dysplasia |
|
Myopia, High hypermetropia |
ORPHA:1515 |
Mucolipidosis Iii Gamma |
|
Myopia, Opacification of the corneal stroma |
OMIM:252605 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Myopia, Corneal dystrophy, Abnormality of the ear, Abnormal vitreous humor morphology, Abnormal o... |
ORPHA:1101 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Abnormal antihelix morphology, Abnormal helix morpholo... |
ORPHA:1005 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Myopia, Vitreoretinopathy, Hearing impairment |
OMIM:183900 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Myopia, Cupped ear, Hypermetropia, Protruding ear, Microtia, Astigmatism, Low-set ears, Visual im... |
OMIM:156200 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Myopia, Cataract, Attenuation of retinal blood vessels |
OMIM:614376 |
Lopes-Maciel-Rodan Syndrome |
|
Myopia |
OMIM:617435 |
Proteus-Like Syndrome |
|
Myopia, Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia ir... |
ORPHA:2969 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Moderate myopia, Cataract, Ectopia lentis, Spherophakia, Reduced visual acuity, Hig... |
OMIM:601552 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Myopia, Retinal hemorrhage, Reduced visual acuity, Angioid streaks of the fundus, Macular degener... |
OMIM:177850 |
Leukodystrophy, Hypomyelinating, 11 |
|
Myopia |
OMIM:616494 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Myopia, Macrotia, Low-set ears |
ORPHA:562528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, High myopia, Buphthalmos, Polymicrogyria, Agyria |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Myopia, Cataract, Hypermetropia, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Pach... |
OMIM:613150 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Myopia, Chorioretinal coloboma |
ORPHA:1116 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Blindness, Remnants... |
OMIM:609049 |
Microphthalmia, Isolated, With Corectopia |
|
Myopia, Ectopia pupillae |
OMIM:156900 |
Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... |
OMIM:193700 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopia, Cataract |
ORPHA:369847 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myopia, Lens subluxation, Visual impairment, Ectopia lentis |
OMIM:236200 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Myopia, Sensorineural hearing impairment |
ORPHA:411543 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavi... |
ORPHA:909 |
Contractural Arachnodactyly, Congenital |
|
Crumpled ear, Myopia, Ectopia lentis |
OMIM:121050 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Sensorineural hearing impairment, High myopia |
ORPHA:440354 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Cardiofaciocutaneous Syndrome 1 |
|
Myopia, Posteriorly rotated ears, Cerebral visual impairment, Optic nerve dysplasia, Anterior cre... |
OMIM:115150 |
Aplasia Cutis Congenita, High Myopia, And Cone-Rod Dysfunction |
|
High myopia |
OMIM:601075 |
Trichothiodystrophy |
|
Myopia, Protruding ear, Microcornea, Developmental cataract, Keratoconjunctivitis sicca, Astigmat... |
ORPHA:33364 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Myopia, Hypermetropia, Astigmatism, Low-set ears, Visual impairment, Hearing impairment |
OMIM:616078 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Myopia, Abnormal pinna morphology, Microcornea, Astigmatism, Low-set ears |
OMIM:244450 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Myopia, Retinal dystrophy, Visual loss, Subretinal deposits, A... |
ORPHA:397715 |
1P21.3 Microdeletion Syndrome |
|
Abnormality of vision, Myopia, Astigmatism, Long ear |
ORPHA:293948 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Myopia, Sensorineural hea... |
ORPHA:309282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Myopia, Macrotia, Hypermetropia, Protruding ear |
OMIM:300534 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Bohring-Opitz Syndrome |
|
Myopia, Posteriorly rotated ears, Gray matter heterotopia, Abnormal optic nerve morphology, Low-s... |
OMIM:605039 |
Intellectual Developmental Disorder, X-Linked 92 |
|
High myopia |
OMIM:300851 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Myopia, Cataract, Keratitis, Sensorineural hearing impairment, Anterior lenticonus |
ORPHA:1018 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Myopia, Posteriorly rotated ears, Cerebral visual impairment, Sensorineural hearing impairment, P... |
ORPHA:466943 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Myopia, Hearing impairment |
ORPHA:94068 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Aganglionic megacolon, Sensorineural hearing impairment, Optic atrophy |
ORPHA:847 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Myopia, Corneal opacity, Amblyopia, Hypermetropia, Protruding ear, Astigmatism... |
ORPHA:464306 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypermetropia, High myopia, Low-set ears, Focal polymicrogyria |
OMIM:619103 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Moderate myopia, Glue ear, Amblyopia, Low-set ears, Recurrent otitis media |
OMIM:619758 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait... |
ORPHA:845 |
Marfanoid Habitus With Situs Inversus |
|
Myopia, Lens subluxation |
OMIM:609008 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Myopia, Abnormality of retinal pigmentation |
ORPHA:1496 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Myopia, Severe conductive hearing impairment, Myopic astigmatism |
ORPHA:230851 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Choreoathetosis, B... |
OMIM:234200 |
Hyperekplexia 2 |
|
Myopia, Astigmatism |
OMIM:614619 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Myopia, Sensorineural hearing impairment, Hypermetropia, Low-set ears, Hearing impairment |
OMIM:300661 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Optic atrophy, Prominent antihelix, Abnormal antihelix... |
ORPHA:2886 |
Cornelia De Lange Syndrome 1 |
|
Myopia, Abnormal incisura morphology, Sensorineural hearing impairment, Optic disc coloboma, Opti... |
OMIM:122470 |
Myopia 21, Autosomal Dominant |
|
High myopia |
OMIM:614167 |
Myopia 6 |
|
High myopia |
OMIM:608908 |
Myopia 19, Autosomal Dominant |
|
High myopia |
OMIM:613969 |
Myopia 24, Autosomal Dominant |
|
High myopia |
OMIM:615946 |
Myopia 26, X-Linked, Female-Limited |
|
High myopia |
OMIM:301010 |
Short Stature-Micrognathia Syndrome |
|
Myopia, Astigmatism, Cataract |
OMIM:617164 |
Monosomy 18Q |
|
Myopia, Abnormal retinal morphology, Sensorineural hearing impairment, Bilateral conductive heari... |
ORPHA:1600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypermetropia, High myopia, Protruding ear, Absent antihelix, Rod-cone dystrophy, Hearing impairment |
OMIM:300998 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Myopia, Cataract, Remnants of the hyaloid vascular system, Amblyopia, Br... |
OMIM:619539 |
Hermansky-Pudlak Syndrome |
|
Myopia, Cataract, Amblyopia, Ocular albinism, Photophobia, Astigmatism, Abnormal optic nerve morp... |
ORPHA:79430 |
Myopathic Ehlers-Danlos Syndrome |
|
Myopia |
ORPHA:536516 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Uplifted earlobe, Cerebral visual impairment, Mild myopia, Protruding ear, Low-set ears, Small ea... |
ORPHA:412069 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Myopia, Optic nerve hypoplasia, Facial palsy, Amblyopia, Hypermetropia, Abnormal optic disc morph... |
ORPHA:508498 |
Alagille Syndrome 1 |
|
Myopia, Posterior embryotoxon, Cataract, Band keratopathy, Abnormal anterior chamber morphology, ... |
OMIM:118450 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, High myopia, Pigmentary retinopathy, Peters anomaly, Iris coloboma, Heari... |
OMIM:309801 |
Myopia 27, Autosomal Dominant |
|
High myopia |
OMIM:618827 |
Chromosome 9P Deletion Syndrome |
|
Prominent antihelix, Myopia, Posteriorly rotated ears, Low-set ears |
OMIM:158170 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Sinus Node Disease And Myopia |
|
High myopia |
OMIM:182190 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Optic atrophy, Abnormality of vision, Thickened helice... |
ORPHA:1340 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Myopia, Microcornea, Large earlobe, Astigmatism, Macular hypoplasia |
ORPHA:1675 |
Nizon-Isidor Syndrome |
|
Myopia, Iris coloboma, Hypermetropia |
OMIM:618872 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Myopia, Stenosis of the external auditory canal |
ORPHA:93316 |
Pitt-Hopkins Syndrome |
|
Thickened helices, Myopia, Cupped ear, Astigmatism |
OMIM:610954 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Myopia, Protruding ear, Low-set ears, Thickened helices, Thickened ears, Macrotia, Chronic otitis... |
OMIM:300966 |
Trisomy 10P |
|
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Corneal opacity, Optic nerve hypoplasia, Posterior sub... |
ORPHA:536471 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Blindness, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, High myopia,... |
OMIM:608328 |
Ablepharon Macrostomia Syndrome |
|
Myopia, Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory canal, Visua... |
ORPHA:920 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Myopia, Cerebral visual impairment, Hypermetropia, Astigmatism, Low-set ears, Hearing impairment |
ORPHA:369837 |
Neurofibromatosis Type 1 |
|
Myopia, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Hearing abnormality, Abno... |
ORPHA:636 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Macroti... |
OMIM:615574 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage, High myopia, Lissencephaly, Low-set ears, Pachygyria, P... |
ORPHA:357074 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Myopia, Macrotia, Astigmatism |
OMIM:208050 |
Acromelic Frontonasal Dysostosis |
|
Myopia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Gray matter heterotopia,... |
OMIM:603671 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... |
ORPHA:2388 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Hypsarrhythmia,... |
ORPHA:1934 |
Martin-Probst Syndrome |
|
Myopia, Sensorineural hearing impairment, Low-set ears |
OMIM:300519 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Myopia, Mixed hearing impairment, Microcornea, C... |
OMIM:614557 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Myopia, Astigmatism, Macular coloboma, Rod-cone dystrophy |
OMIM:248190 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Macular dystrophy, Myopia, Retinal dystrophy, Lop ear |
ORPHA:140952 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Myopia, Hearing impairment |
ORPHA:86818 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
49,Xxxxy Syndrome |
|
Chronic otitis media, Myopia |
ORPHA:96264 |
Pseudoxanthoma Elasticum |
|
Myopia, Metamorphopsia, Retinal hemorrhage, Angioid streaks of the fundus, Retinopathy, Visual im... |
ORPHA:758 |
Cockayne Syndrome B |
|
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal pinna morphology... |
OMIM:133540 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Myopia, Hearing impairment |
ORPHA:500055 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, High myopia, Large earlobe, Bilateral sensorineural hearing impairment... |
ORPHA:2962 |
Desbuquois Dysplasia 1 |
|
Myopia, Developmental glaucoma |
OMIM:251450 |
Stickler Syndrome |
|
Myopia, Blindness, Cataract, Retinal detachment, Ectopia lentis, Sensorineural hearing impairment... |
ORPHA:828 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Myopia, Abnormality of retinal pigmentation, Aganglionic megac... |
ORPHA:175 |
Marshall-Smith Syndrome |
|
Myopia, Optic nerve hypoplasia, Macrogyria, High myopia, Bilateral conductive hearing impairment,... |
OMIM:602535 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Failure to... |
ORPHA:401973 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, F... |
OMIM:617527 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Mixed hearing impairment, Posteriorly rotated ears, Microcornea, Peripapillary atrophy, L... |
ORPHA:536467 |
Sandhoff Disease |
|
Orthostatic hypotension, Ataxia, Exaggerated startle response |
OMIM:268800 |
Craniosynostosis 2 |
|
Myopia, Hypermetropia, Visual field defect |
OMIM:604757 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Myopia |
OMIM:610543 |
Pitt-Hopkins Syndrome |
|
Myopia, Aganglionic megacolon, Astigmatism, Abnormal helix morphology, Thickened helices |
ORPHA:2896 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Myopia |
ORPHA:2634 |
Charge Syndrome |
|
Mixed hearing impairment, Cataract, Facial palsy, Aplasia of the semicircular canal, Sensorineura... |
OMIM:214800 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Myopia, Optic nerve hypoplasia, Sensorineural hearing impairment, Hypermetropia, Protruding ear, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Myopia, Optic nerve hypoplasia, Sensorineural hearing impairment, Hypermetropia, Protruding ear, ... |
ORPHA:352665 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Myopia, Low-set ears |
OMIM:225410 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Myopia, Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Conductive hearing imp... |
OMIM:182212 |
Houge-Janssens Syndrome 1 |
|
Myopia |
OMIM:616355 |
Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Cataract, Protruding ear, Abnormal antihelix morpholog... |
ORPHA:235 |
Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Myopia, Posteriorly rotated ears, Hearing impairment |
OMIM:610759 |
Arboleda-Tham Syndrome |
|
Myopia, Posteriorly rotated ears, Cerebral visual impairment, Anteverted ears, Amblyopia, Optic a... |
OMIM:616268 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Myopia, Retinal detachment, Posteriorly rotated ears, Protruding ear, Microcornea, Astigmatism, L... |
OMIM:601776 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Myopia, Microtia, Recurrent otitis media, Progressive conductive hearing impairment |
ORPHA:529962 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Myopia, Posteriorly rotated ears, Cupped ear, Optic atrophy, Hypermetropia, Protruding ear, Low-s... |
OMIM:309590 |
Shprintzen-Goldberg Syndrome |
|
Myopia, Posteriorly rotated ears, Protruding ear, Low-set ears, Conductive hearing impairment |
ORPHA:2462 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Myopia |
OMIM:184250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
High myopia |
OMIM:613157 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Myopia, Posteriorly rotated ears, Underfolded helix, Protruding ear, Abnormal antitragus morpholo... |
ORPHA:93315 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Mixed hearing impairment, Cataract, Amblyopia, Sensori... |
ORPHA:444077 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myopia, Posteriorly rotated ears, Hypermetropia, Astigmatism, Low-set ears |
OMIM:607721 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Myopia, Cataract, Posteriorly rotated ears, Thickened helices, Asymmetry of th... |
OMIM:607872 |
Gastrocutaneous Syndrome |
|
Myopia |
OMIM:137270 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Myopia, Abnormal optic chiasm morphology, Cataract, Retinal detachment, Hypermetropia, Protruding... |
ORPHA:268261 |
Night Blindness, Congenital Stationary, Type 1A |
|
Hemeralopia, Congenital stationary night blindness, High myopia |
OMIM:310500 |
Schimke Immunoosseous Dysplasia |
|
Myopia, Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Lethal Congenital Contracture Syndrome 2 |
|
Degenerative vitreoretinopathy, High myopia |
OMIM:607598 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Myopia, Posteriorly rotated ears, Amblyopia, Myopic astigmatism, Recurrent otitis media |
OMIM:301066 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Thickened ears, Microtia, High myopia |
ORPHA:363659 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus, Myopia, Macrotia |
ORPHA:3342 |
Zimmermann-Laband Syndrome 1 |
|
Myopia, Cataract, Posteriorly rotated ears, Low-set ears, Hearing impairment |
OMIM:135500 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Myopia, Posteriorly rotated ears, Otitis media |
OMIM:618050 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Myopia, Keratoconjunctivitis sicca, Macrotia, Astigmatism |
ORPHA:536532 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Recurrent otitis media, High myopia, Hearing impairment |
OMIM:616482 |
Meier-Gorlin Syndrome 7 |
|
Myopia, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing impairment |
OMIM:617063 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopia, Sensorineural hearing impairment, Microcornea, Low-set ears, Conductive hearing impairmen... |
ORPHA:536545 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Boudin-Mortier Syndrome |
|
Myopia |
OMIM:619543 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Cataract, Ectopia lentis, Microcornea, Overfolded heli... |
ORPHA:800 |
Branchiooculofacial Syndrome |
|
Myopia, Cataract, Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Fusio... |
OMIM:113620 |
Proteus Syndrome |
|
Myopia, Central heterochromia, Cataract, Abnormality of retinal pigmentation, Retinal hamartoma, ... |
ORPHA:744 |
Baller-Gerold Syndrome |
|
Myopia, Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Optic atrophy... |
OMIM:218600 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, High myopia, Low-set ears, Crumpled ear, Megalocornea |
ORPHA:284979 |
Weill-Marchesani Syndrome 1 |
|
Blindness, Cataract, Ectopia lentis, Microspherophakia, High myopia, Shallow anterior chamber |
OMIM:277600 |
Beaulieu-Boycott-Innes Syndrome |
|
Myopia |
OMIM:613680 |
Hamamy Syndrome |
|
Sensorineural hearing impairment, Neck pterygia, Low-set ears, High myopia |
OMIM:611174 |
Deeah Syndrome |
|
Hypermetropia, Myopia, Low-set ears, Hearing impairment |
OMIM:619004 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, High myopia |
OMIM:614457 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness, Posteriorly rotated ears, Retinal dystrophy, Uplifted earlobe, Sclerocornea, P... |
OMIM:607932 |
Gastrocutaneous Syndrome |
|
Myopia |
ORPHA:2069 |
Cohen-Gibson Syndrome |
|
Myopia, Cataract, Long ear, Low-set ears, Macrotia |
OMIM:617561 |
Hajdu-Cheney Syndrome |
|
Myopia, Cataract, Low-set ears, Iris coloboma, Hearing impairment |
ORPHA:955 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Knobloch Syndrome 2 |
|
Retinal detachment, Anterior cortical cataract, Vitreous floaters, High myopia, Vitreoretinopathy |
OMIM:618458 |
Apert Syndrome |
|
Chronic otitis media, Myopia, Hearing impairment |
OMIM:101200 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Myopia, Sensorineural hearing impairment, Visual impairment |
OMIM:618748 |
Coffin-Siris Syndrome |
|
Myopia, Simplified gyral pattern, Visual impairment, Hearing impairment |
ORPHA:1465 |
Hunter-Macdonald Syndrome |
|
Conductive hearing impairment, Myopia, Sensorineural hearing impairment |
OMIM:611962 |
Marfan Syndrome |
|
Myopia, Retinal detachment, Flat cornea, Ectopia lentis, Lens luxation, Hypoplasia of the iris, L... |
ORPHA:558 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Myopia, Amblyopia, Abnormal Eustachian tube morphology, Hypermetropia, Recurrent otitis media, Pa... |
ORPHA:513456 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Myopia, Anteverted ears, Rod-cone dystrophy, Sensorineural hearing impairment, Protruding ear, Lo... |
ORPHA:459070 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Myopia, Posteriorly rotated ears, Facial palsy, Sensorineura... |
OMIM:619325 |
Spondyloperipheral Dysplasia |
|
Sensorineural hearing impairment, High myopia |
OMIM:271700 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Myopia, Retinal detachment, Blindness, Microcornea |
OMIM:225400 |
Prader-Willi Syndrome Due To Translocation |
|
Myopia, Cerebral visual impairment, Hypermetropia, Stellate iris, Iris hypopigmentation |
ORPHA:177907 |
Cowden Syndrome |
|
Myopia, Cataract, Conjunctival hamartoma, Hearing impairment |
ORPHA:201 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High myopia |
OMIM:620070 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Myopia, Optic nerve hypoplasia, Cerebral visual impairment, Optic atrophy, Simplified gyral patte... |
ORPHA:500150 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy, High myopia |
ORPHA:97297 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Keratoconjunctivitis sicca, High myopia, Reduced visual acuity, Ectopia lentis |
OMIM:616914 |
Shwachman-Diamond Syndrome 2 |
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Low-set ears, High myopia |
OMIM:617941 |
Prader-Willi Syndrome |
|
Myopia, Hypermetropia, Iris hypopigmentation |
OMIM:176270 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Myopia, Sclerocornea |
OMIM:300952 |
Cranioectodermal Dysplasia 1 |
|
Myopia, Retinal dystrophy, Low-set ears, Protruding ear |
OMIM:218330 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Myopia, Chorioretinal hypopigmentation |
ORPHA:398069 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Myopia, Aganglionic megacolon, Corneal opacity, Keratitis, Corneal erosion, Photophobia, Astigmat... |
ORPHA:2273 |
Wiedemann-Rautenstrauch Syndrome |
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Myopia, Cataract, Posteriorly rotated ears, Corneal opacity, Optic disc hypoplasia, Hearing abnor... |
ORPHA:3455 |
Rin2 Syndrome |
|
High myopia |
ORPHA:217335 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Abnormal pinna morphology, High myopia |
OMIM:309583 |
Hypomagnesemia 3, Renal |
|
Myopia, Astigmatism, Hypermetropia |
OMIM:248250 |
Acromelic Frontonasal Dysplasia |
|
Myopia |
ORPHA:1827 |
Marfan Syndrome |
|
Myopia, Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, ... |
OMIM:154700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Myopia, Cataract |
OMIM:615356 |
Doors Syndrome |
|
Myopia, Cataract, Optic atrophy, Atresia of the external auditory canal, Low-set ears, Polymicrog... |
ORPHA:79500 |
Mesomelia-Synostoses Syndrome |
|
Myopia, Hearing impairment |
OMIM:600383 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Myopia, Cataract, Abnormal cortical gyration, Hypermetropia, A... |
ORPHA:480880 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
Xylt1-Cdg |
|
Myopia |
ORPHA:370930 |
Tetrasomy 9P |
|
Myopia, Glue ear, Abnormal chorioretinal morphology, Amblyopia, Abnormal earlobe morphology, Liss... |
ORPHA:3310 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
X-Linked Intellectual Disability, Snyder Type |
|
Asymmetry of the ears, Cupped ear, High myopia, Low-set ears, Thickened helices, Small earlobe |
ORPHA:3063 |
Peters-Plus Syndrome |
|
Myopia, Cataract, Posteriorly rotated ears, Protruding ear, Retinal coloboma, Low-set ears, Peter... |
OMIM:261540 |
Hallermann-Streiff Syndrome |
|
Myopia, Visual impairment, Developmental cataract |
ORPHA:2108 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Myopia, Posteriorly rotated ears, Protruding ear, Astigmatism, Low-set ears |
OMIM:614756 |
Campomelic Dysplasia |
|
Conductive hearing impairment, Myopia, Low-set ears, Hearing impairment |
OMIM:114290 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Cataract, Sensorineural hearing impairment, Microcorne... |
ORPHA:199 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Lop ear, Low-set ears, High myopia |
OMIM:300707 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Myopia, Cataract, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe... |
ORPHA:261552 |
Williams Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Posterior embryotoxon, Flat cornea, Cataract, Corneal ... |
ORPHA:904 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Moderate myopia, Thickened helices, Mild myopia, Hypermetropia, Low-set ears, Recurrent otitis me... |
OMIM:619950 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Periventricular nodular heterotopia, Moderate myopia |
ORPHA:555877 |
Coffin-Siris Syndrome 1 |
|
Myopia, Posteriorly rotated ears, Abnormal pinna morphology, Astigmatism, Low-set ears, Visual im... |
OMIM:135900 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
High myopia |
OMIM:619685 |
Macs Syndrome |
|
High myopia |
OMIM:613075 |
Noonan Syndrome 1 |
|
Myopia, Sensorineural hearing impairment, Low-set ears, Hearing impairment |
OMIM:163950 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Myopia, Protruding ear, Astigmatism, Low-set ears, Recurrent otitis media, Macrotia, Hearing impa... |
OMIM:150230 |
Poland Syndrome |
|
Retinal hamartoma, Myopia, Abnormality of the outer ear |
ORPHA:2911 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Myopia, Cataract, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Periventricu... |
ORPHA:261537 |
Sotos Syndrome |
|
Myopia, Cataract, Aganglionic megacolon, Hypermetropia, Astigmatism, Conductive hearing impairmen... |
ORPHA:821 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myopia, External ear malformation, Neck pterygia, Low-set ears, Recurrent otitis media, Hearing i... |
ORPHA:99413 |
Turner Syndrome |
|
Myopia, External ear malformation, Neck pterygia, Low-set ears, Recurrent otitis media, Hearing i... |
ORPHA:881 |
Mosaic Monosomy X |
|
Myopia, External ear malformation, Neck pterygia, Low-set ears, Recurrent otitis media, Hearing i... |
ORPHA:99228 |
Monosomy X |
|
Myopia, External ear malformation, Neck pterygia, Low-set ears, Recurrent otitis media, Hearing i... |
ORPHA:99226 |
Mowat-Wilson Syndrome |
|
Myopia, Cataract, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Periventricu... |
ORPHA:2152 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Myopia |
OMIM:184253 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Myopia, Ectopia lentis |
OMIM:271640 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia, High myopia |
ORPHA:457359 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Myopia, Astigmatism |
OMIM:619482 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, D... |
ORPHA:438213 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Myopia |
OMIM:617168 |
Short Stature With Microcephaly And Distinctive Facies |
|
High myopia |
OMIM:615789 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Attention deficit hyperactivity... |
OMIM:619522 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
High myopia, Cerebral visual impairment |
OMIM:620066 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Myopia |
OMIM:300967 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Myopia |
ORPHA:466791 |
Pallister-Killian Syndrome |
|
Myopia, Cataract, Posteriorly rotated ears, Low-set ears, Stenosis of the external auditory canal... |
OMIM:601803 |
Wrinkly Skin Syndrome |
|
Low-set ears, High myopia |
ORPHA:2834 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Retinal detachment, Posteriorly rotated ears, Cupped ea... |
OMIM:619472 |
Pmm2-Cdg |
|
Myopia, Cataract, Abnormal pinna morphology, Rod-cone dystrophy, Photoreceptor layer loss on macu... |
ORPHA:79318 |
Singleton-Merten Syndrome 1 |
|
Myopia |
OMIM:182250 |