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Gene: Slitrk6 MGI:2443198

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Sensorineural hearing impairment, High myopia 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
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
Åland 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
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
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
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
Myopia, Aganglionic megacolon, Corneal opacity, Keratitis, Corneal erosion, Photophobia, Astigmat... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slitrk6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slitrk6.

No publications found that use IMPC mice or data for Slitrk6.

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MGI Allele Allele Type Produced
Slitrk6tm412403(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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