Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SLIT and NTRK-like family, member 6
Synonyms:
4832410J21Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slitrk6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slitrk6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness And Myopia
High myopia, Sensorineural hearing impairment OMIM:221200

The table below shows human diseases predicted to be associated to Slitrk6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Cataract, Exudative vitreoretinopathy, V... OMIM:143200
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Vest... ORPHA:504476
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Gait ataxia, Gait disturbance, Gait instability... OMIM:608984
Deafness, Autosomal Recessive 121
Myopia, Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Hearing impairment, Scotoma, Reduced visual acuity, Optic disc pallor OMIM:165300
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Central scotoma, Astigmatism, Cone/cone... OMIM:300476
Spinocerebellar Ataxia 6
Vertigo, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal vestibulo-ocular reflex,... OMIM:183086
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Stickler Syndrome Type 2
Cataract, Retinopathy, Sensorineural hearing impairment, Abnormal vitreous humor morphology, Reti... ORPHA:90654
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Peripapillary atrophy, Astigmatism, Retinal dots, Reduced v... OMIM:616188
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy, Myopia OMIM:600510
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Hearing impairment, Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Myopia, Corneal dystrophy, Developmental cataract ORPHA:2572
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Visual impairment, Myopia, Abnormality of retinal pigmentation ORPHA:1574
Macular Dystrophy With Central Cone Involvement
High myopia, Bull's eye maculopathy, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Abnormal cranial nerve... ORPHA:247234
Birdshot Chorioretinopathy
Abnormal choroid morphology, Abnormal retinal vascular morphology, Retinal detachment, Optic disc... ORPHA:179
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Gyrate Atrophy Of Choroid And Retina
Cataract, Hearing impairment, Abnormal macular morphology, Constriction of peripheral visual fiel... ORPHA:414
Friedreich Ataxia
Optic atrophy, Falls, Hearing impairment, Decreased motor nerve conduction velocity, Inability to... ORPHA:95
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Blindness, Tractional retin... ORPHA:90050
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weight, Ataxia ORPHA:99852
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Gait ataxia, Hearing abnormality, Decreased distal sensory nerve action potential, A... OMIM:614575
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, High myopia, Bull's ey... OMIM:312600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Spinocerebellar Ataxia 27A
Postural tremor, Abnormal vestibulo-ocular reflex, Gait ataxia, Limb ataxia OMIM:193003
Cataract 12, Multiple Types
Myopia, Progressive cataract, Developmental cataract OMIM:611597
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Reduced visual acuity, Moderate myopia, Congenital stationary night blindness, Abnormal fundus mo... OMIM:163500
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Vestibular hypofunction, Scotoma, Visual loss, Astigmatism, Sens... ORPHA:231183
Cataract 42
Cataract, Myopia, Developmental cataract OMIM:115900
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Myopia ORPHA:320396
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Sensorineural hearing impairment, Ret... OMIM:617879
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, High myopia, Sensorineural hearing impairment, Retinal detachment OMIM:614284
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Myopia, Corneal dystrophy, Developmental cataract OMIM:271320
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Retinitis Pigmentosa 73
Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb... OMIM:616544
Åland Islands Eye Disease
Color vision defect, Hypopigmentation of the fundus, Astigmatism, Hypoplasia of the fovea, Reduce... ORPHA:178333
Bornholm Eye Disease
Protanopia, High myopia, Astigmatism, Abnormality of retinal pigmentation, Amblyopia, Deuteranopi... OMIM:300843
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Inability to walk, Tremor, Hypsarrhythmia, Hyperactivity, A... ORPHA:599373
Lamb-Shaffer Syndrome
Low-set ears, Optic atrophy, Myopia, Posteriorly rotated ears OMIM:616803
Schizophrenia 15
Hyperactivity OMIM:613950
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Reduced visual acuity, Bone spi... OMIM:611040
Retinal Cone Dystrophy 3B
Scotoma, Astigmatism, Cone/cone-rod dystrophy, Reduced visual acuity, Nyctalopia, Macular atrophy... OMIM:610356
Blue Cone Monochromacy
Abnormality of macular pigmentation, Visual impairment, Reduced visual acuity, Myopia, Blue cone ... OMIM:303700
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Vestibular hypofunction, Scotoma, Visual loss, Sensorineural hea... ORPHA:231169
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Conductive hearing impairment, Retinal thinning, Asteroid hyalosis, Myopia OMIM:132450
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Protruding e... OMIM:152950
Retinal Capillary Malformation
Retinal exudate, Anisometropia, Retinal capillary hemangioma, Subretinal exudate, Blindness, Epir... ORPHA:71213
Aland Island Eye Disease
Hypopigmentation of the fundus, Protanopia, Astigmatism, Hypoplasia of the fovea, Myopia, Severel... OMIM:300600
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Myopia OMIM:613162
Usher Syndrome, Type Iv
Abnormal vestibular function, Progressive sensorineural hearing impairment, Constriction of perip... OMIM:618144
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Reduced visual acuity, Retinal detachment, Retinal p... ORPHA:364055
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Sensorineural hearing impairment, Amblyopia, Retinal de... ORPHA:250984
Familial Exudative Vitreoretinopathy
Cataract, Falciform retinal fold, Macular edema, Hearing impairment, Vitreoretinopathy, Subretina... ORPHA:891
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Shuffling gait, Prelingual sensorineural hearing impairment, Optic ... ORPHA:52368
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, S... OMIM:204000
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Constriction of peripheral visual field, High myopia, Peripapilla... OMIM:616469
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration, Myopia, Posteriorly rota... OMIM:615458
Glaucoma 1, Open Angle, A
Myopia, Abnormal iris vasculature OMIM:137750
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, High myopia, Vitreous floaters, Lattice retinal degeneration, Mildly reduced visual acu... OMIM:614292
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, R... OMIM:204100
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Sensorineural hearing impairment, Myopia, Visual... ORPHA:163937
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Color vision defect, Retinal pigment epithelial mottling, Ultra-low v... OMIM:608553
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormal helix morphology, Ectopia lentis, Abnormality of retinal pigmentation, Myopia, Iris colo... ORPHA:1259
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Myopia, Iris coloboma, Corneal dystrophy ORPHA:1377
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Leber Congenital Amaurosis
Keratoconus, Cataract, Hearing impairment, Abnormality of retinal pigmentation, Abnormality of ne... ORPHA:65
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Hemiano... ORPHA:284454
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Flynn-Aird Syndrome
Cataract, Myopia, Progressive sensorineural hearing impairment, Rod-cone dystrophy OMIM:136300
Oguchi Disease
Diplopia, Macular degeneration, Mizuo phenomenon, Abnormality of refraction, Rod-cone dystrophy, ... ORPHA:75382
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Hypertryptophanemia
Myopia, Visual impairment, Sensorineural hearing impairment OMIM:600627
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Reduced visual acuity, Myopia, Macular ... OMIM:602499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Polymicrogyria, Type II lissencephaly, Blindness, Retinal detachment, Myopia, Optic ner... OMIM:615181
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia OMIM:301107
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Sensorineural hearing impairment, Posterior embr... ORPHA:1473
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Spastic Paraplegia 90B, Autosomal Recessive
Myopia, Sensorineural hearing impairment OMIM:620417
Stickler Syndrome Type 1
Cataract, Visual loss, Sensorineural hearing impairment, Abnormal vitreous humor morphology, Reti... ORPHA:90653
Sveinsson Chorioretinal Atrophy
Peripapillary chorioretinal atrophy, Myopia, Astigmatism OMIM:108985
Leber Congenital Amaurosis 16
Cataract, Visual field defect, Reduced visual acuity, Nyctalopia, Optic disc pallor, Visual impai... OMIM:614186
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, High myopia, Macular hypoplasia, R... OMIM:610202
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Sensorineural hearing impairment, Myopia, ... ORPHA:231178
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Failure to thrive, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hype... OMIM:609425
Leber Congenital Amaurosis 15
Color vision defect, Posterior subcapsular cataract, Pigmentary retinopathy, Photophobia, Constri... OMIM:613843
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Constriction of peripheral visual field, Reduced vi... OMIM:304700
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Myopia, Aplasia/Hypoplasia of ... ORPHA:33445
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Stickler Syndrome, Type Ii
Cataract, High myopia, Sensorineural hearing impairment, Abnormal vitreous humor morphology, Reti... OMIM:604841
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Myopia, Retinal dysplasia ORPHA:96183
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Juvenile Glaucoma
Abnormality iris morphology, Visual impairment, Abnormal optic nerve morphology, Retinal vein occ... ORPHA:98977
Hyperprolinemia, Type I
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Abnormal helix morphology, Keratoconus, Hearing impairment, Optic disc hypoplasia,... ORPHA:401777
Van Bogaert-Hozay Syndrome
Astigmatism, Myopia, Abnormal pinna morphology OMIM:277150
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology OMIM:300983
Achondrogenesis Type 2
Cataract, Hearing impairment, Abnormal vitreous humor morphology, Retinal detachment, Lens sublux... ORPHA:93296
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmentation of the fundus, Hypoplasia of the iris, Ocular albinism, A... OMIM:611584
Renal Coloboma Syndrome
Hearing impairment, Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia, Myopia, Visual ... ORPHA:1475
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Myopia, Retinal dystrophy, Sensorineural hearing impairment OMIM:616756
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Focal EEG disch... ORPHA:3077
Stickler Syndrome, Type Vi
Moderate myopia, High myopia, Astigmatism, Sensorineural hearing impairment OMIM:620022
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Type II lissencephaly, Myopia, Retinal dysplasia, Visual impairment ORPHA:272
Stickler Syndrome, Type Iv
Cataract, High myopia, Astigmatism, Sensorineural hearing impairment, Chorioretinal degeneration,... OMIM:614134
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis, Abn... ORPHA:1390
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Usher Syndrome
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus, Ataxia, Vestibular aref... ORPHA:886
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Myopia, Ectopia lentis, Hearing impairment ORPHA:2325
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Blindness, Chorioretinal atroph... OMIM:258870
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hype... OMIM:618718
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Myopia, Amblyopia, Astigmatism OMIM:620021
Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness
High myopia, Hearing impairment OMIM:226950
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Progressive visual ... OMIM:312700
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Pigmentary retinopathy, Moderate myopia,... OMIM:300578
Achromatopsia 3
Cataract, Dyschromatopsia, High myopia, Moderately reduced visual acuity, Monochromacy, Achromato... OMIM:262300
Retinitis Pigmentosa 23
Color vision defect, Posterior subcapsular cataract, Constriction of peripheral visual field, Att... OMIM:300424
Glaucoma, Primary Open Angle
Myopia OMIM:137760
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Lennox-Gastaut Syndrome
Falls, Vertigo, Aggressive behavior, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Juvenile Huntington Disease
Broad-based gait, Bradykinesia, Gait ataxia, Weight loss, Hyperactivity, Ataxia, Dystonia, Progre... ORPHA:248111
Cone-Rod Dystrophy 18
Foveal hyperpigmentation, High myopia, Central scotoma, Cone/cone-rod dystrophy, Reduced visual a... OMIM:615374
Bardet-Biedl Syndrome 21
Retinal thinning, Constriction of peripheral visual field, Blindness, Hyperautofluorescent macula... OMIM:617406
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopia, Microcornea, Sensorineural hearing impairment ORPHA:300179
5Q35 Microduplication Syndrome
Myopia ORPHA:228415
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Myopia OMIM:613151
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
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Abnormal optic nerve morphology, Hypopigmentation of the fundus, Visual loss, Myopi... ORPHA:77300
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Tritanomaly, Patchy atrophy of the retinal pigment epit... ORPHA:67042
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Myopia, Astigmatism OMIM:248000
Polydactyly, Postaxial, With Progressive Myopia
Myopia OMIM:174310
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, High hypermetropia, High myopia, Attenuation of re... OMIM:619260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Myopia, Facial palsy, Developmental cataract, Retinal dystrophy OMIM:613155
Joint Laxity, Short Stature, And Myopia
Hearing impairment, Chorioretinal coloboma, High myopia, Retinal detachment, Iris coloboma OMIM:617662
Myopia 17, Autosomal Dominant
Presenile cataracts, High myopia, Retinal hole OMIM:608367
Spondylo-Ocular Syndrome
Low-set ears, Cataract, Iris hypopigmentation, Visual loss, Abnormal antihelix morphology, Retina... ORPHA:85194
Norrie Disease
Retinal fold, Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Posteriorly rotated ears, Progressive visual loss, Retinal deta... ORPHA:2143
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Visual impairment, Aplasia/Hypoplasia of the iris, Corneal opacity, Myopia, Persistent ... ORPHA:1067
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Myopia, Keratoglobus, Scleroc... OMIM:614170
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Ataxia OMIM:615924
Desanto-Shinawi Syndrome
Hearing impairment, Astigmatism, Sensorineural hearing impairment, Myopia, Posteriorly rotated ea... OMIM:616708
Glycine Encephalopathy 1
Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Low-set ears, Optic atrophy, Astigmatism, Myopia, Retinal dystrophy, Simplified gyral pattern OMIM:620428
Deafness And Myopia
High myopia, Sensorineural hearing impairment OMIM:221200
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sensorineural hearing impairment, Sclerocornea, My... ORPHA:139471
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn m... OMIM:611890
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Difficulty w... ORPHA:206443
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment, Myopia, Hearing impairment ORPHA:1856
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Visual impairment, Myopia OMIM:617810
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity, Failure to thrive OMIM:274270
Woolly Hair Nevus
Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary membrane ORPHA:79414
Lattice Corneal Dystrophy Type I
Slow decrease in visual acuity, Abnormal cornea morphology, Corneal scarring, High myopia, Visual... ORPHA:98964
Optic Atrophy 11
Optic atrophy, Hearing impairment, Cherry red spot of the macula, Facial diplegia, Amblyopia, Hyp... OMIM:617302
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Ata... OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Type II lissencephaly, Retinal detachment, Corneal opacity, Pachygyria, Myopia, Agyria,... OMIM:613153
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Amblyopia, Gray matter heterotopia, Myopia, Retinal dystrophy OMIM:615960
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Visual impairment, Posteriorly rotated ears, Myopia OMIM:300887
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, EEG abnormality, Dystonia, Dy... ORPHA:500180
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Myopia, Hypermetropia, Astigmatism, Large fleshy ears OMIM:619556
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... OMIM:619827
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Myopia, Corneal dystrophy ORPHA:1369
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Sensorineural hearing impairment, Myopia, Ce... OMIM:617201
Myopia 28, Autosomal Recessive
Cataract, High myopia, Retinal detachment OMIM:619781
Bardet-Biedl Syndrome 19
Myopia, Hearing impairment, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:615996
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Flynn-Aird Syndrome
Cataract, Progressive sensorineural hearing impairment, Rod-cone dystrophy, Myopia, Visual impair... ORPHA:2047
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Hearing impairment, Visual loss, Decreased corneal thick... OMIM:229200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Hearing impairment, Peripheral visual field loss, Sensorineural hearing ... OMIM:268315
Distal Deletion 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment ORPHA:1620
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Conductive hearing impairment, Periph... ORPHA:791
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Optic atrophy, Myopia, Sensorineural hearing impairment ORPHA:2971
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Sjögren-Larsson Syndrome
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Myopia, Photophobia, Corn... ORPHA:816
Fuchs Heterochromic Iridocyclitis
Cataract, Abnormal best corrected visual acuity test, Chorioretinal scar, Corneal keratic precipi... ORPHA:263479
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal semicirc... ORPHA:87
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Anisometropia, Peters anomaly, Hearing impairment, Chorioretinal coloboma, Low-set... ORPHA:494344
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Hearing impairment, High myopia, Nyctalopia, Rod-cone dystrophy, Myopia, Posteriorl... OMIM:617763
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Cone dystrophy, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Hearing impairment, Chorioretinal coloboma, Astigmatism, Amblyopia, Hypermetropia, Myopia, Visual... ORPHA:284169
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Hermansky-Pudlak Syndrome 8
Myopic astigmatism, Ocular albinism, Moderate hypermetropia, High myopia, Astigmatism, Hypoplasia... OMIM:614077
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Myopia OMIM:614199
Cone-Rod Dystrophy 19
Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluorescence, Cone/cone-rod dystr... OMIM:615860
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Constriction of peripheral visual field, Peripheral visual field ... OMIM:613983
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Type II lissencephaly, Polymi... ORPHA:370959
Aniridia 2
Optic atrophy, Cataract, Aniridia, Amblyopia, Lens subluxation, Iris coloboma OMIM:617141
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Myopia, Posteriorly rotated ears ORPHA:444002
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Hypoplasia of the fovea, Reduced visual acuity, Blue irides, Myop... OMIM:203200
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Harel-Yoon Syndrome
Optic atrophy, Myopia, Developmental cataract, Corneal opacity OMIM:617183
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, High myopia OMIM:301076
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Peripheral visual field loss, Mixed astigmatism, Bone spicu... OMIM:617023
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, EEG abnormality, At... ORPHA:411515
Muscle-Eye-Brain Disease
Optic atrophy, Visual impairment, Myopia, Cataract ORPHA:588
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Temtamy Syndrome
Low-set ears, Ectopia lentis, Chorioretinal coloboma, Myopia, Iris coloboma, Lop ear, Lens luxation OMIM:218340
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Protruding ear, Myopia, Hypermetropia OMIM:619595
Folinic Acid-Responsive Seizures
Optic atrophy, Myopia, Sensorineural hearing impairment ORPHA:79097
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Myopia, Visual impairment, Abnormal retinal morphology ORPHA:2786
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Constriction of peripheral visual field, High myopi... OMIM:210370
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Myopia, Large fleshy ears OMIM:203550
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Abnormal helix morphology, Low-set, posteriorly rotated ears, Fundus atrophy, Myopia ORPHA:1970
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment, Amblyopia ORPHA:35737
Alpha-Mannosidosis, Adult Form
Cataract, Myopia, Corneal opacity, Mixed hearing impairment, Optic disc pallor ORPHA:309288
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Myopia OMIM:618688
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, High myopia, Retinal detachment, Iris transilluminati... OMIM:225200
Peroxisome Biogenesis Disorder 14B
Myopia, Developmental cataract, Progressive hearing impairment OMIM:614920
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Myopia, Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia... ORPHA:3236
Night Blindness, Congenital Stationary, Type 1F
High myopia, Retinal perforation, Reduced visual acuity, Nyctalopia, Congenital stationary night ... OMIM:615058
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Polydactyly-Myopia Syndrome
Myopia ORPHA:2917
Congenital Muscular Dystrophy With Intellectual Disability
Myopia, Pigmentary retinopathy, Facial palsy ORPHA:370968
Intellectual Developmental Disorder, Autosomal Dominant 59
Low-set ears, Myopia, Protruding ear OMIM:618522
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
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Myopia, Hypermetropia, Buphthalmos... OMIM:251750
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Hearing impairment, Retinal thinning, Asteroid hyalosis, Myopia ORPHA:166011
4H Leukodystrophy
Optic atrophy, Myopia, Cataract ORPHA:289494
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Abnormal pinna... OMIM:614104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Optic atrophy, Cataract, Peters anomaly, Atresia of the external auditory canal, Me... OMIM:236670
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Hearing impairment, Myopia, Corneal erosion OMIM:203780
Split-Hand/Foot Malformation 3
Myopia, Abnormal pinna morphology OMIM:246560
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Stickler Syndrome, Type I
Cataract, Conductive hearing impairment, Vitreoretinopathy, Blindness, Sensorineural hearing impa... OMIM:108300
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Corneal opacity, Myopia, Optic nerve hypoplasia ORPHA:496790
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Myopia, Astigmatism OMIM:615761
Blepharoptosis, Myopia, And Ectopia Lentis
Myopia, Ectopia lentis OMIM:110150
Cardiofaciocutaneous Syndrome 2
Low-set ears, Myopia, Posteriorly rotated ears OMIM:615278
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy, Myopia OMIM:618800
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:301013
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, High myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Recurrent otitis medi... OMIM:608940
Rasmussen Subacute Encephalitis
Hemidystonia, Continuous spike and waves during slow sleep, Inability to walk, Increased theta fr... ORPHA:1929
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Myopia, Retinal dystrophy, Sensorineural hearing impairment ORPHA:464282
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Diplopia, Hearing impairment, Bilateral vestibular schw... OMIM:101000
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Myopia, Retinal neovascularization, Hearing impairment OMIM:619074
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Myopia, Retinal detachment, Hearing impairment ORPHA:3218
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Visual impairment, Myopia ORPHA:529665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cataract, Polymicrogyria, Type II lissencephaly, Retinal detachment, Hypermetropia... OMIM:253800
Encephalopathy Due To Sulfite Oxidase Deficiency
Myopia, Ectopia lentis ORPHA:833
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Myopia, Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Astigmatism, Cerebral visual impairment, Myopia, Abnormal pinna morphology ORPHA:480898
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Blindness, Astigmatism, Blurred vision, Co... ORPHA:566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Myopia, Pigmentary retinopathy, Facial palsy OMIM:613156
Congenital Primary Aphakia
Corneal perforation, Abnormality of vision, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia aff... ORPHA:83461
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Congenital sensorineural hearing impairment, Protrudin... ORPHA:293967
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Amblyopia, Hypermetropia, Myopia, Retinal dystrophy ORPHA:370022
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Myopia, Macrotia OMIM:615433
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Nyctalopia,... ORPHA:5
Donnai-Barrow Syndrome
Low-set ears, Cataract, Hearing impairment, Hypoplasia of the iris, High myopia, Sensorineural he... OMIM:222448
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Frontoocular Syndrome
Low-set ears, Myopia, Posteriorly rotated ears OMIM:605321
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Dysdiadochokinesis, Abnormality ... ORPHA:99027
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Facial palsy, Decreased motor nerve conduction velocity, Myopia OMIM:608804
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Chorioretinal dystrophy, Reduced visual acuity, Bone spicu... OMIM:216550
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Re... ORPHA:101085
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Cataract, Hearing impairment, High myopia, Blindness, Sensorineural ... OMIM:220500
Bardet-Biedl Syndrome 1
Cataract, Hearing impairment, Hyperautofluorescent macular lesion, Peripheral visual field loss, ... OMIM:209900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Inappropriate laughter, Abnormal eating b... ORPHA:98794
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Astigmatism, Cerebral visual impairment, Hypermetropia, Myopia OMIM:616875
Oculoauricular Syndrome
Low-set ears, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod ... OMIM:612109
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with generalized slow activity, EEG ... ORPHA:1942
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Hig... OMIM:120330
Jaberi-Elahi Syndrome
Low-set ears, Optic atrophy, Cataract, Protruding ear, Myopia, Visual impairment OMIM:617988
Marshall Syndrome
Cataract, Ectopia lentis, Vitreoretinopathy, Sensorineural hearing impairment, Abnormal vitreous ... ORPHA:560
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Cataract, Hearing impairment, Stenosis of the external auditory cana... OMIM:123450
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Ectopia lentis, Retinal detachment, Myopia, Shallow anterior chamber OMIM:129600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Hearing impairment, Hypermetropia, Ocular anterior segment dysgenesis, Myopia, Macr... ORPHA:369891
Pontocerebellar Hypoplasia, Type 8
Low-set ears, Astigmatism, Cerebral visual impairment, Hypermetropia, Myopia, Posteriorly rotated... OMIM:614961
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Failure to thrive, Hearing impairment, Aggressive behavior, Hyperactivity ORPHA:369939
Short Syndrome
Low-set ears, Cataract, Megalocornea, Rieger anomaly, Astigmatism, Sensorineural hearing impairme... OMIM:269880
Neuhauser Syndrome
Cupped ear, Megalocornea, Hypoplasia of the iris, Large fleshy ears, Iridodonesis, Retinal detach... OMIM:249310
16Q24.3 Microdeletion Syndrome
Hearing impairment, Periventricular heterotopia, Astigmatism, Protruding ear, Myopia, Visual impa... ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hearing impairment, Decreased body weight, Aggressive behavior, Hyperactivity OMIM:300958
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Opto-chiasmatic atrophy, Visual loss, Reduced visual acuity, Progressive visual lo... OMIM:615491
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slo... ORPHA:168491
Cataract 6, Multiple Types
Posterior polar cataract, Myopia, Developmental cataract, Choroideremia OMIM:116600
X-Linked Creatine Transporter Deficiency
Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Xp22.3 Microdeletion Syndrome
Myopia, Opacification of the corneal stroma ORPHA:1643
Weill-Marchesani Syndrome 3
High myopia, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Sensorineural hearing impairment, Protruding e... ORPHA:2479
Kniest Dysplasia
Cataract, Conductive hearing impairment, Recurrent otitis media, Retinal detachment, Myopia OMIM:156550
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Myopia, Bilateral conductive hearing impairment, Myopic astigmatism OMIM:617802
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, EEG with generalized epileptiform discharges, EEG with generalized slow... ORPHA:163681
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Inability to walk, Exaggerated startle response, EEG with generalized slow act... OMIM:617864
Stiff Skin Syndrome
Cataract, Myopia OMIM:184900
Cornelia De Lange Syndrome 5
Myopia, Hearing impairment OMIM:300882
Intellectual Developmental Disorder, X-Linked 58
Myopia OMIM:300210
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Myopia OMIM:607694
Brittle Cornea Syndrome
Conductive hearing impairment, Corneal scarring, High myopia, Visual loss, Sensorineural hearing ... ORPHA:90354
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Hea... ORPHA:79098
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Myopia ORPHA:313892
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Iris coloboma, Astigmatism, Sensorineural hearing imp... OMIM:616364
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Microcoria, Congenital
Myopia, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Alport Syndrome 1, X-Linked
Anterior lenticonus, Sensorineural hearing impairment, Lenticonus, Developmental cataract, Myopia... OMIM:301050
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Ectopia pupillae, Astigmatism, Reduced visual acuity, Myopia OMIM:618727
Sengers Syndrome
Cataract, Myopia, Developmental cataract OMIM:212350
Developmental And Epileptic Encephalopathy 103
Continuous spike and waves during slow sleep, EEG with burst suppression, EEG with polyspike wave... OMIM:619913
Weill-Marchesani Syndrome
Visual loss, Cataract, High myopia, Ectopia lentis ORPHA:3449
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia, Chorioretinal dystrop... ORPHA:2707
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Choking episodes, Unsteady gait, Gait ... ORPHA:35069
White Forelock With Malformations
Low-set, posteriorly rotated ears, Myopia ORPHA:2475
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Sensorineural hearing impairment, Myopia, Conjunctivitis, Photophobia OMIM:242150
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Cataract, Myopia, Sensorineural hearing impairment ORPHA:85321
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Primary congenital glaucoma, Myopia, Retinal detachment, Bilateral sensorineural ... ORPHA:521445
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Pachygyria, Optic atrophy, Myopia, Astigmatism OMIM:619576
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Cataract, Myopia, Corneal arcus, Macrotia OMIM:219150
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Reduced visual acuity, Achromatopsia, Hypermetropia, Nonprogressive visual loss, M... OMIM:614800
Cardiofaciocutaneous Syndrome 4
Cataract, Myopia, Optic nerve hypoplasia OMIM:615280
Fanconi Anemia, Complementation Group I
Myopia, Conductive hearing impairment, Astigmatism, Optic nerve hypoplasia OMIM:609053
Schuurs-Hoeijmakers Syndrome
Low-set ears, Myopia, Macrotia OMIM:615009
19P13.3 Microduplication Syndrome
Low-set ears, Amblyopia, Hypermetropia, Myopia, Posteriorly rotated ears, Microtia ORPHA:447980
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Congenital sensorineural hearing impairment, Sensori... ORPHA:73272
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Protruding ear, Myopia, Facial palsy, Abnormal pinna morphology ORPHA:3068
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Abnormality of refraction, Astigmatism, Hypoplasia of the fovea, Reduced visual ... OMIM:203100
White-Sutton Syndrome
Optic atrophy, Abnormality of the outer ear, Blindness, Astigmatism, Sensorineural hearing impair... ORPHA:468678
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Failure to thrive OMIM:619239
Acrocraniofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairmen... ORPHA:949
B4Galt1-Cdg
Low-set ears, Myopia, High myopia ORPHA:79332
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Kniest Dysplasia
Cataract, Hearing impairment, Vitreoretinopathy, Degenerative vitreoretinopathy, High myopia, Ret... ORPHA:485
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Tongue thrusting, Limb tremor, Tortico... OMIM:608643
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Optic atrophy, Myopia ORPHA:447896
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Astigmatism, Amblyopia, Hypermetropia, Cerebral visual impairment, Myopia OMIM:618493
Amyloidosis, Hereditary Systemic 1
Diplopia, Hearing impairment, High myopia, Sensorineural hearing impairment, Orthostatic hypotens... OMIM:105210
Noonan Syndrome 6
Low-set ears, Myopia, Sensorineural hearing impairment OMIM:613224
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormality of vision, Cataract, Abnormal optic nerve morphology, Blindness, Visua... ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 35
Myopia, Optic disc hypoplasia OMIM:617873
Paganini-Miozzo Syndrome
Low-set ears, High myopia, Posteriorly rotated ears, Microtia OMIM:301025
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cowden Syndrome 5
Cataract, Myopia, Hearing impairment, Angioid streaks of the fundus OMIM:615108
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Myopia, Hearing impairment ORPHA:93346
Marshall Syndrome
Low-set ears, Cataract, Vitreoretinopathy, Recurrent otitis media, Sensorineural hearing impairme... OMIM:154780
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of vision, Ocular albinism, Sensorineural hearing im... ORPHA:2719
Mucopolysaccharidosis Type 3
Optic atrophy, Cataract, Pigmentary retinopathy, Conductive hearing impairment, Hearing impairmen... ORPHA:581
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Hearing impairment, Exaggerated startle response OMIM:620114
Oculodentodigital Dysplasia
Optic atrophy, Cataract, Microcornea, Conductive hearing impairment, Hearing impairment, Abnormal... ORPHA:2710
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Myopia, Hypermetropia, Hearing impairment ORPHA:404473
Gapo Syndrome
Low-set ears, Optic atrophy, Keratoconus, Hearing impairment, Myopia, Visual impairment ORPHA:2067
Intellectual Developmental Disorder, Autosomal Recessive 65
Astigmatism, Myopia, Abnormal pinna morphology OMIM:618109
Kury-Isidor Syndrome
Low-set ears, Exudative vitreoretinopathy, Recurrent otitis media, High myopia, Astigmatism OMIM:619762
Smith-Magenis Syndrome
Microcornea, Conductive hearing impairment, Retinal detachment, Myopia, Chronic otitis media ORPHA:819
Myopia 23, Autosomal Recessive
Reduced visual acuity, High myopia, Visual impairment OMIM:615431
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Agitation OMIM:618056
Cataract 16, Multiple Types
Posterior polar cataract, High myopia, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Polymicrogyria, High myopia, Buphthalmos, Agyria, Retinal dystrophy ORPHA:370997
Developmental And Epileptic Encephalopathy 66
Myopia, Hypermetropia, Astigmatism OMIM:618067
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Myopia, Lens coloboma, Cupped ear OMIM:618914
Cowden Syndrome 6
Cataract, Myopia, Hearing impairment, Angioid streaks of the fundus OMIM:615109
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Optic atrophy, Myopia OMIM:619383
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, High myopia, Myopia OMIM:614381
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu... OMIM:175780
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Cataract, Microcornea, Myopia, Overfolded helix OMIM:255800
Aplasia Cutis-Myopia Syndrome
High myopia, Abnormality of retinal pigmentation ORPHA:1117
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Myopia ORPHA:2180
16P12.1P12.3 Triplication Syndrome
Low-set ears, Myopia, Large earlobe, Hypermetropia ORPHA:485405
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Retinal detachment, Myopia, Hypopigmentation of the fundus ORPHA:163649
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Cataract, Abnormal cortical gyration, Hearing impairment, Astigmatism, Hypermetropi... OMIM:300968
Alport Syndrome 3A, Autosomal Dominant
Hearing impairment, Anterior polar cataract, Sensorineural hearing impairment, Lenticonus, Myopia OMIM:104200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Large earlobe, Underfolded helix, Myopia, Posteriorly rotated ears OMIM:618316
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Myopia, Conductive hearing impairment, Sensorineural hearing i... ORPHA:1307
Ehlers-Danlos Syndrome, Classic Type, 1
Myopia, Ectopia lentis, Lop ear OMIM:130000
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Visual loss, Abnormal vitreous... ORPHA:1571
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Myopia ORPHA:126
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Myopia, Posteriorly rotated ears OMIM:618430
Schaaf-Yang Syndrome
Low-set ears, Myopia OMIM:615547
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, EEG abnormality, At... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Dysdiadochokinesis, Bradykinesia, Gait ataxia, Dysmetria, Hyperactivity, Dystonia,... OMIM:610217
Emanuel Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Astigmatism, Severe hearing impairment,... ORPHA:96170
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal ... ORPHA:1764
Emanuel Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Astigmatism, Myopia, Macrotia OMIM:609029
Knobloch Syndrome 1
Band keratopathy, Visual impairment, Vitreoretinopathy, Polymicrogyria, High myopia, Peripapillar... OMIM:267750
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Limb tremor, Ataxia, EEG abnor... OMIM:105830
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Cupped ear, Hearing impairment, Astigmatism, Hypermetropia, Myopia, Visual impairme... OMIM:620494
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Abnormality of retinal pigmentation, Sensorine... ORPHA:193
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... ORPHA:206448
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of vision, Astigmatism, Protruding ear, Abnormality of neuronal migration, Amblyopia,... ORPHA:464311
Char Syndrome
Myopia, Hearing impairment ORPHA:46627
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Myopia, Hypermetropia OMIM:618092
Myopia 22, Autosomal Dominant
Reduced visual acuity, High myopia OMIM:615420
19P13.12 Microdeletion Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Myopia, Abnormal p... ORPHA:254346
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, High myopia, Iridodone... OMIM:613195
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Myopia, Hypermetropia, Hemianopia ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Type II lissencephaly, Polymicrogyria, Hypoplasia of the r... OMIM:253280
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Ectopia lentis, Abnormality of retinal pigmentation, Amblyopia, Retinal ... ORPHA:394
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Abnormal cornea morphology, High myopia, Hearing impairment ORPHA:357058
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Astigmatism, Hypermetropia, Myopia, Retinal dysplasia, Retinal dy... OMIM:617052
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Broad-based gait, Inability to walk, Inappropriate laught... ORPHA:72
Bcard Syndrome
Low-set ears, Cataract, Myopia, Sensorineural hearing impairment OMIM:612394
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Microcornea, Abnormality of the brachial nerve plexus, Retinal detachment, Hypermetropia, Myopia,... ORPHA:1900
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Agitation, Lethargy, Hypsarrhythmia, Hyperactivity, Exaggerated start... OMIM:620423
Van Den Bosch Syndrome
High myopia, Choroideremia ORPHA:3417
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Hearing impairment, Difficulty walking, Abnormality of peripher... ORPHA:90321
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Myopia, Pachygyria, Polymicrogyria OMIM:219200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal optic nerve morphology, Megalocornea, Aniridia, Abnormal vitreous humor morphology, Abno... ORPHA:1101
Mesomelia-Synostoses Syndrome
Myopia, Hearing impairment ORPHA:2496
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Abnormality of vision, Hearing impairment, Cho... ORPHA:138
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Cataract, Microcornea, Large earlobe, Myopia, Persistent pupillary membrane OMIM:257850
Fountain Syndrome
Myopia, Visual impairment, Sensorineural hearing impairment ORPHA:3219
Musculocontractural Ehlers-Danlos Syndrome
Hearing impairment, Low-set, posteriorly rotated ears, Astigmatism, Protruding ear, Retinal detac... ORPHA:2953
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Decreased body weight OMIM:608747
Cranioectodermal Dysplasia
Myopia, High hypermetropia ORPHA:1515
Cowden Syndrome 1
Cataract, Myopia, Hearing impairment, Angioid streaks of the fundus OMIM:158350
Spondyloepiphyseal Dysplasia Congenita
Myopia, Retinal detachment, Hearing impairment, Vitreoretinopathy OMIM:183900
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor evoked potenti... ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Cupped ear, Astigmatism, Protruding ear, Hypermetropia, Myopia, Visual impairment, ... OMIM:156200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Attenuation of retinal blood vessels, Myopia OMIM:614376
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Myop... ORPHA:1005
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Myopia, Limbal der... ORPHA:2969
Traboulsi Syndrome
Cataract, Ectopia lentis, Visual impairment, Phakodonesis, Moderate myopia, High myopia, Iris atr... OMIM:601552
Lopes-Maciel-Rodan Syndrome
Myopia OMIM:617435
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Reduced visual acuity, Retinal hemorrhage, M... OMIM:177850
Hoxha-Aliu Syndrome
Low-set ears, Cupped ear, Astigmatism, Uplifted earlobe, Myopia, Posteriorly rotated ears OMIM:620662
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
High myopia, Sensorineural hearing impairment OMIM:620651
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
High myopia, Sensorineural hearing impairment ORPHA:440354
Leukodystrophy, Hypomyelinating, 11
Myopia OMIM:616494
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Myopia, Chorioretinal coloboma ORPHA:1116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Polymicrogyria, High myopia, Buphthalmos, Agyria, Retinal dystrophy OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Type II lissencephaly, Myopia, Hypermetropia, Pachygyria, Buphthalmos, ... OMIM:613150
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor, Hyperactivity, Agitation ORPHA:99819
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Myopia ORPHA:369847
Arthrogryposis, Distal, Type 2A