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Gene: Rpl24 MGI:1915443

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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:
ribosomal protein L24
Synonyms:
Bst,  0610008L05Rik

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 Rpl24 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rpl24 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... OMIM:251270
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Curry-Jones Syndrome
Hypopigmented skin patches, Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Cranios... ORPHA:1553
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Lens coloboma, Metaphyseal dysplasia, Spinal stenosis with reduced interpedi... OMIM:157151
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Pelvis-Shoulder Dysplasia
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... OMIM:169550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Reti... ORPHA:1473
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Peters anomaly, Optic disc colobom... OMIM:120200
Bresek Syndrome
Aganglionic megacolon, Microphthalmia, Intrauterine growth retardation, Hemivertebrae, Neonatal d... ORPHA:85284
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Abnormal hair morphology, Iris coloboma, Finger sy... ORPHA:251014
Wagner Vitreoretinopathy
Optic atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... ORPHA:90050
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... OMIM:127200
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal neovascularizatio... OMIM:193220
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Failure to thrive, Optic nerve hypoplasia, Cataract, Cereb... ORPHA:163937
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ir... ORPHA:959
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... OMIM:120330
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Abnormality iris morphology, Hypoplas... ORPHA:370959
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal... ORPHA:250984
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Unossified sacrum, Absent ver... ORPHA:93296
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal detachment, Hydrocephalus... OMIM:615181
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... OMIM:609616
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Flattened femoral head, Epiphyseal dysplasia, Platyspondyly, Retinal detachment, Hypoplasia of th... OMIM:184000
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Retinal Dystrophy And Obesity
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... OMIM:616188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Retinal detachment, Corneal op... OMIM:613153
Microphthalmia, Lenz Type
Chorioretinal coloboma, Microphthalmia, Optic disc coloboma, Kyphosis, Iris coloboma, Finger synd... ORPHA:568
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Superficial episcleral hyperemia, Exudative retinal detachment, Abn... ORPHA:209956
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Chorioretinal coloboma, Cataract OMIM:274205
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Renal Coloboma Syndrome
Joint hyperflexibility, Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Generalized hyperpigmentation, Aplasia/Hypoplasia ... ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Microphthalmia, Retinal dysplasia, Hypoplasia o... OMIM:253280
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Exuda... ORPHA:2788
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Abnormality of epiphysis morphology, Platyspondyly... ORPHA:90653
Congenital Glaucoma
Retinal detachment ORPHA:98976
Stickler Syndrome, Type Ii
Long fingers, Arachnodactyly, Joint hypermobility, Retinal detachment, Abnormal vitreous humor mo... OMIM:604841
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormality of cranial sutures, Slender finger, Anisospondyly, Increased bone mineral density, Fl... ORPHA:163649
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Oculofaciocardiodental Syndrome
Broad palm, 2-3 toe syndactyly, Highly arched eyebrow, Microphthalmia, Ectopia lentis, Hammertoe,... ORPHA:2712
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Hip osteoarthritis, Abnormal epiphysis morphology of the phala... OMIM:619248
Kniest Dysplasia
Rhegmatogenous retinal detachment, Short long bone, Coronal cleft vertebrae, Vertebral wedging, L... ORPHA:485
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Microphthalmia, Aplasia/Hypoplasia of the lens, Osteopor... ORPHA:85194
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Highly arched eyebrow, Cerebral cortical hemiatrophy, Failure to thrive, Osteochondr... ORPHA:2995
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Microphthalmia, Retinal dysplasia, Hypopla... OMIM:310600
Gluteal Muscles, Absence Of
Optic nerve hypoplasia, Spina bifida occulta, Scoliosis OMIM:231970
Aicardi Syndrome
Dandy-Walker malformation, Optic atrophy, Partial agenesis of the corpus callosum, Butterfly vert... OMIM:304050
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Butterfly vertebrae, Chorioretinal coloboma, ... ORPHA:50
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract, Generalized hyperpigmentation ORPHA:2253
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Bicoronal synostosis, Low anterior hairline, Delayed closure of the an... OMIM:618736
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Hallermann-Streiff Syndrome
Sparse eyelashes, Iris coloboma, Sparse and thin eyebrow, Sparse hair, Fine hair, Hypertension, M... OMIM:234100
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Optic disc coloboma, Cerebellar vermis hypoplasia, Short metacarpal, Brac... OMIM:600092
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Joubert Syndrome 1
Highly arched eyebrow, Optic disc pallor, Chorioretinal coloboma, Occipital myelomeningocele, Ret... OMIM:213300
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Bardet-Biedl Syndrome 11
Obesity, Polydactyly, Retinopathy OMIM:615988
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Talipes equinovarus, Kyphoscoliosis, Osteopenia, Iris coloboma, Retinal d... OMIM:617662
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Dysplasia of the femoral head, Iris co... ORPHA:536471
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Trichothiodystrophy 5, Nonphotosensitive
Dandy-Walker malformation, Tiger tail banding, Intrauterine growth retardation, Retinal dystrophy... OMIM:300953
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Adducted thum... OMIM:614643
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... ORPHA:75376
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Kniest Dysplasia
Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... OMIM:156550
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Bardet-Biedl Syndrome 12
Obesity, Polydactyly, Rod-cone dystrophy OMIM:615989
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia, Scoliosis, Umbilical hernia OMIM:615879
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Retinal coloboma, Abnormality of the optic disc, Iris coloboma, Broad hallux,... ORPHA:508498
Warsaw Breakage Syndrome
2-3 toe syndactyly, Intrauterine growth retardation, Optic disc coloboma, Clinodactyly, Microceph... OMIM:613398
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly OMIM:615983
Joubert Syndrome 2
Microphthalmia, Chorioretinal coloboma, Agenesis of cerebellar vermis, Failure to thrive, Retinal... OMIM:608091
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma, Tremor, Aplasi... ORPHA:1454
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... ORPHA:496790
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Retinal detachment, ... ORPHA:3437
Cardiofaciocutaneous Syndrome 4
Developmental cataract, Optic nerve hypoplasia, Absent eyebrow, Pulmonic stenosis, Multiple lenti... OMIM:615280
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal cortical atrophy, ... ORPHA:228384
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dysplasia, Chorior... OMIM:152950
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Facial palsy, Shoulder girdle muscle weakness, Retinal telangiectas... OMIM:158900
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Cerebellar hypoplasia,... OMIM:218670
Fanconi Anemia, Complementation Group I
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Hypoplasia of the radius... OMIM:609053
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hirsutism, Talipes equinovarus, Global brain atrophy, Cerebellar hypoplasia, Abnormal left ventri... OMIM:301056
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Micr... OMIM:610125
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Intrauterine growth retardation, Retinal dysplasia, Abnormal vertebral morpholog... ORPHA:96183
Squalene Synthase Deficiency
2-3 toe syndactyly, Failure to thrive in infancy, Intrauterine growth retardation, Optic nerve hy... OMIM:618156
Bardet-Biedl Syndrome 6
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity OMIM:605231
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly OMIM:615771
Walker-Warburg Syndrome
Dandy-Walker malformation, Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal... ORPHA:899
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Abnormal hair morphology, Hyperpigmented nevi, Optic nerve ... OMIM:607597
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Iris coloboma, Short neck, Scoliosis, Agenesis of corpus callosum ORPHA:52055
Spondyloocular Syndrome
Long fingers, Osteopenia, Retinal detachment, Vertebral compression fracture, Cataract, Long toe,... OMIM:605822
Bardet-Biedl Syndrome 10
Retinal dystrophy, Obesity, Polydactyly, Rod-cone dystrophy OMIM:615987
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Low anterior hairline, Optic nerve hypoplasia, Long eyelashes, Primary mic... OMIM:618828
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Short metacarpal, Cataract, Microcornea ORPHA:627
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Optic nerve hypoplasia, Flexion contracture, Hypoplasia of the corpus callosum... OMIM:617864
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardati... ORPHA:1466
Stromme Syndrome
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Stillbirth, Iris coloboma, ... OMIM:243605
Congenital Tufting Enteropathy
Corneal erosion, Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Optic disc colobo... ORPHA:92050
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation, Global brain atrophy, Aplasia/Hypoplasia of the ... ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic n... OMIM:236670
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Microcephaly OMIM:617914
Stickler Syndrome, Type I
Morbus Scheuermann, Membranous vitreous appearance, Beaking of vertebral bodies, Platyspondyly, A... OMIM:108300
Incontinentia Pigmenti
Atrophic, patchy alopecia, Hypoplastic nipples, Sparse hair, Breast hypoplasia, Supernumerary nip... OMIM:308300
Incontinentia Pigmenti
Abnormal hair morphology, Dystrophic toenail, Cerebral ischemia, Finger syndactyly, Deviation of ... ORPHA:464
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... OMIM:612109
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Donnai-Barrow Syndrome
Retinal dystrophy, Iris coloboma, Retinal detachment, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2143
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Intrauterine growth retardatio... OMIM:616171
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Large for gestational age, Pulmonic stenosis, Aplasia/Hypoplasia of the o... ORPHA:137634
Smith-Magenis Syndrome
Broad palm, Increased body weight, Abnormality of the forearm, Retinal detachment, Short palm, Sc... OMIM:182290
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... OMIM:182230
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Optic disc coloboma OMIM:241310
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Metaphyseal dysplasia, Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Retinal Detachment
Retinal detachment OMIM:180050
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Hypoplasia of the pons, Optic nerve hypoplasia, Abnormally l... OMIM:300749
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Hypoplastic nipples, Hirsutism, Phocomelia, Curly eyelashes, Proximal placeme... OMIM:122470
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Retinal detachment, Abnormality of femoral epiphysis, Hype... ORPHA:3218
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair OMIM:606574
Craniotelencephalic Dysplasia
Optic atrophy, Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Hydrocep... ORPHA:1528
Linear Verrucous Nevus Syndrome
Dandy-Walker malformation, Toe syndactyly, Sparse scalp hair, Genu recurvatum, Reduced bone miner... ORPHA:2611
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone mineral density, Short femur,... ORPHA:94068
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Microphthalmia, Syndromic 3
Butterfly vertebrae, Microphthalmia, Vertebral fusion, Hemivertebrae, Anophthalmia, Optic nerve h... OMIM:206900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Flexion contracture, Decreased body weight, Agenesis of c... OMIM:614833
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Intrauterine growth retardation, Long fingers, Optic nerve hypoplasia, Broad distal ph... ORPHA:363686
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Intracranial hemorrhage, Ectopi... ORPHA:394
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Tapered finger, Optic disc hypoplasia, Optic nerve hypoplasia, Delayed skeletal ma... ORPHA:401777
Bardet-Biedl Syndrome 18
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity, Brachydactyly OMIM:615995
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Optic disc coloboma, Iris coloboma, Short neck, Thoracolumbar scoliosis, Agenesis of corpus callosum OMIM:300472
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Camptodactyly of finger, Cerebellar hypoplasia, Sparse and thin eyebrow, Supern... ORPHA:261349
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Pseudoepiphyses of the... OMIM:113100
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Duplication involving bones of the feet, Scoliosis,... OMIM:246000
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Vasculitis, Arthritis ORPHA:375
Spondyloepiphyseal Dysplasia Congenita
Talipes equinovarus, Delayed pubic bone ossification, Vitreoretinopathy, Delayed calcaneal ossifi... OMIM:183900
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Bardet-Biedl Syndrome 4
Retinal degeneration, Polydactyly, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly OMIM:615982
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Short 5th metacarpal, Anophthalmia, Finger syndactyly, Short foot, Bilateral sing... ORPHA:264200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity OMIM:610156
Marshall Syndrome
Irregular proximal tibial epiphyses, Developmental cataract, Radial bowing, Vitreoretinopathy, Ir... OMIM:154780
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Brittle Cornea Syndrome
Decreased corneal thickness, Hallux valgus, Corneal erosion, Corneal scarring, Keratoglobus, Incr... ORPHA:90354
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior seg... OMIM:615145
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum ORPHA:250972
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Partial agenesis of the corpus callosum, Retinal neovascularization, Cerebellar vermis hypoplasia... OMIM:619074
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Aniridia, Anterior subcapsular cataract... OMIM:106210
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... OMIM:615986
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Intracranial hemorrhage, Optic nerv... ORPHA:447788
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Microphthalmia, Retinal dysplasia, Holoprosencephaly, Exag... OMIM:253800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Retinal dysplasia, Hydrocephalus, Coloboma, Ocular anteri... ORPHA:324416
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Sturge-Weber Syndrome
Optic atrophy, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridi... ORPHA:3205
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Avascular necrosis of the capital femoral epiphysis, Cardiomyopathy... ORPHA:247691
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Corneal erosion, Optic disc coloboma OMIM:270420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Hydrocephalu... OMIM:613154
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Failure to thrive, Cerebral atrophy, Coloboma, Agenesis of corpus ... OMIM:274270
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Retinopathy, Pigmentary, And Mental Retardation
Narrow palm, Arachnodactyly, Truncal obesity, Joint hypermobility, Cataract, Pigmentary retinopat... OMIM:268050
Joubert Syndrome 22
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Retinal dysplasia, Agenesis of cer... OMIM:615665
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone s... OMIM:611040
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Retinal degeneration, Rhizomelia, Platy... OMIM:602271
Smith-Magenis Syndrome
Toe syndactyly, Failure to thrive in infancy, Abnormal form of the vertebral bodies, Corticospina... ORPHA:819
Fg Syndrome Type 1
Optic nerve hypoplasia, Craniosynostosis, Generalized joint laxity, Broad toe, Pulmonary arterial... ORPHA:93932
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Highly arched eyebrow, Mitral regurgitation, Optic nerve hypoplasia, Prox... ORPHA:261250
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Hydrocephalus, Iris coloboma ORPHA:2185
Chromosome 2P16.1-P15 Deletion Syndrome
Metatarsus adductus, Hypoplasia of the pons, Kyphoscoliosis, Optic nerve hypoplasia, Calcaneovalg... OMIM:612513
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Tapered finger, Branchial fistula, Optic disc coloboma, Tricuspid regurgitation, ... ORPHA:261337
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Myelomeningocele, Hypoplastic iris stroma, Hypopigmentation of the... OMIM:193500
Wildervanck Syndrome
Meningocele, Lens subluxation, Facial palsy, Fused cervical vertebrae, Low posterior hairline, Sh... ORPHA:3456
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... OMIM:609218
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Cerebellar hypoplasia, Cerebral atrophy, Cerebral hypoplasia, Hypoplasia... ORPHA:468631
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Short metacarpal, Short thumb, Cataract,... ORPHA:2489
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Nephronophthisis 15
Cerebellar vermis hypoplasia, Retinal degeneration, Polydactyly, Obesity OMIM:614845
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Rod-cone dystrophy, Obesity, Clinodactyly OMIM:615984
Knobloch Syndrome 1
Developmental cataract, Vitreoretinopathy, Peripapillary atrophy, Alopecia, Phthisis bulbi, Macul... OMIM:267750
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Optic disc coloboma ORPHA:1790
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... OMIM:204200
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Hand tremor, ... ORPHA:101085
Stiff Skin Syndrome
Hypertension, Retinal detachment, Limitation of joint mobility ORPHA:2833
Proboscis Lateralis
Microcornea, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic nerve... ORPHA:141099
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Hypoplasia of the iris, Retinal dystrophy, Iris coloboma... OMIM:222448
Oligomeganephronia
Branchial cyst, Hypertension, Small for gestational age, Optic disc coloboma ORPHA:2260
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... ORPHA:2786
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
19P13.13 Microdeletion Syndrome
Hypoplasia of the frontal lobes, Optic atrophy, Long fingers, Optic nerve hypoplasia, Long eyelas... ORPHA:357001
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, S... OMIM:616394
Marshall Syndrome
Sparse eyelashes, Sparse hair, Ectopia lentis, Vitreoretinopathy, Genu valgum, Retinal detachment... ORPHA:560
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal autonomic nervous system physiology, Partial agenesis of the corpus callosum, Metatarsus... ORPHA:300570
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Shallow anterior chamber, Microphthalmia, Hypertrichosis, ... OMIM:614222
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Srd5A3-Cdg
Optic atrophy, Hypertrichosis, Abnormal sacrum morphology, Optic disc hypoplasia, Palmoplantar ke... ORPHA:324737
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Morm Syndrome
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy ORPHA:75858
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:615033
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short phalanx of finger, Sho... ORPHA:85167
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Hirsutism, Rod-cone dystrophy, Postaxial polydactyly OMIM:300804
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Aplasia/Hypoplasia involving... ORPHA:3301
Pancreatic And Cerebellar Agenesis
Cerebellar agenesis, Failure to thrive, Optic nerve hypoplasia, Overlapping fingers, Cerebellar h... OMIM:609069
Bardet-Biedl Syndrome 22
Polydactyly, Macular hypopigmentation, Rod-cone dystrophy, Large for gestational age, Postaxial f... OMIM:617119
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... OMIM:619165
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Talipes equinovarus, Arterial rupture, Hip subluxation, Thoracic scoliosis, Distal joint laxity, ... ORPHA:1900
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebellar hypoplasia ORPHA:2246
Proteus-Like Syndrome
Limbal dermoid, Communicating hydrocephalus, Genu recurvatum, Heterochromia iridis, Abnormal pupi... ORPHA:2969
Knobloch Syndrome
Abnormal hair morphology, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detach... ORPHA:1571
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Retinitis, Retinal coloboma, Postaxial polydactyly, Holoprosencephaly,... OMIM:615948
Cutis Marmorata Telangiectatica Congenita
Short lower limbs, Hypertension, Telangiectasia, Bowing of the legs, Retinal detachment, Leukocoria OMIM:219250
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microphthalmia, Hypertrichosis, Failure to thrive, Kyphosc... OMIM:600118
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hypertrichosis, Cone-shaped epiphysis, Optic nerve hypoplasia, Clinodactyly of the 3rd finger, Hy... ORPHA:221139
Phace Association
Dandy-Walker malformation, Optic atrophy, Developmental cataract, Microphthalmia, Horner syndrome... OMIM:606519
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Retinal fold, Shallow anterior chamber, Persistent pupillary ... OMIM:221900
Bardet-Biedl Syndrome 19
Obesity, Polydactyly, Rod-cone dystrophy OMIM:615996
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Olivopontocerebellar hypoplasia, Postaxial polydactyly, Optic nerve hypoplasia, Joint hypermobili... ORPHA:457284
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Iris coloboma, Thoracic scoliosis, Cervi... OMIM:613702
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Hydrocephalus, Cataract, Obesity OMIM:601794
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Optic disc pallor, Intrauterine growth retardation, Small for gestatio... ORPHA:464311
Marfan Syndrome
Lens subluxation, Slender build, Protrusio acetabuli, Limited elbow movement, Meningocele, Arthra... ORPHA:558
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Rod-cone dystrophy, Iliac crest serration, Tho... ORPHA:168549
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Small for gestational age, Stillbirth, Syndacty... ORPHA:294975
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Flynn-Aird Syndrome
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... OMIM:136300
Cutis Marmorata Telangiectatica Congenita
Short lower limbs, Toe syndactyly, Intrauterine growth retardation, Abnormality of the upper limb... ORPHA:1556
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Small for gestational age, Abnormality iris morphology, Hand clen... ORPHA:1617
Joubert Syndrome 16
Coloboma, Retinal dystrophy, Dandy-Walker malformation, Polydactyly OMIM:614465
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Retinal dysplasia, Aplasi... ORPHA:272
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea, Albinism OMIM:615312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Microphthalmia, Abnormally large globe, Hypoplasia of the brainstem, Progre... OMIM:615249
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Talipes equinovarus, Iris coloboma, Broad hallux, Remnants of the hyaloid vas... OMIM:300166
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Macular atrophy, Microcornea OMIM:602499
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Polydactyly, Bone spicule pigmentation of the retina, Rod-... OMIM:615994
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion... ORPHA:313892
Senior-Loken Syndrome
Hypertension, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone min... ORPHA:3156
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Biconcave vertebral bodies, Cerebral atrophy, Macular atrophy, Optic disc pallor, Retinal degener... OMIM:619260
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Hypoplasia of the fovea, Generalized hypopigmentation OMIM:113750
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Tapered finger, Long fingers, Rieger anomaly, Retinal detachment, Abnormality of the... ORPHA:521445
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Septo-optic dysplasia, Optic nerve hypoplasia, Vertebral clefting, Thoracic ... OMIM:301043
Phace Syndrome
Dandy-Walker malformation, Lens coloboma, Microphthalmia, Retinal vascular malformation, Scleroco... ORPHA:42775
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... OMIM:609913
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin OMIM:606952
20P13 Microdeletion Syndrome
Highly arched eyebrow, Failure to thrive in infancy, Small nail, Polydactyly, Finger syndactyly, ... ORPHA:313781
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity ORPHA:363741
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204100
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormality of the optic nerve, Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, O... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormality of the optic nerve, Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, O... ORPHA:352665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Talipes equinovarus, Palmoplantar cutis laxa, Kyphoscoliosis, O... OMIM:225400
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot OMIM:183800
Jaberi-Elahi Syndrome
Optic atrophy, Sparse eyelashes, Talipes equinovarus, Hand clenching, Failure to thrive, Sparse e... OMIM:617988
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Telangiectasia, Hypoplasia of the fovea, Cherry red spot o... ORPHA:93400
Joubert Syndrome 14
Dandy-Walker malformation, Hypertension, Highly arched eyebrow, Microphthalmia, Morning glory ano... OMIM:614424
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short toe, Kyphosis, Cataract, Hyperlordosis, Delayed skelet... ORPHA:3085
Musculocontractural Ehlers-Danlos Syndrome
Decreased palmar creases, Tapered finger, Kyphoscoliosis, Craniosynostosis, Generalized joint lax... ORPHA:2953
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Intrauterine growth retardation, Retinal dystrophy, Optic nerve hypoplasia, Alopec... OMIM:619321
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Delayed skeletal maturation, Low posterior hairline, Sparse hair, Highly arched eyebrow, Mitral r... OMIM:617506
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cer... ORPHA:65
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Decreased sensory ne... OMIM:609033
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Tricuspid regurgitation, Rod-cone dystrophy, Pigmentary retinopathy, Obesi... OMIM:600151
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmia, Proximal p... ORPHA:139471
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Retinal dysplasia OMIM:614830
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Small for gestational age, Postaxial polydactyly, Tapered finger, Macular ... OMIM:613792
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... OMIM:126070
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Hydrocephalus, Camptodactyly of finger, Camptodactyly, Delayed skeletal m... OMIM:607872
Alg12-Cdg
Small nail, Intrauterine growth retardation, Talipes equinovarus, Short long bone, Long fingers, ... ORPHA:79324
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Generalized joint laxity, Joint dislo... OMIM:601776
Stickler Syndrome
Abnormal form of the vertebral bodies, Slender build, Reduced bone mineral density, Protrusio ace... ORPHA:828
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Limited elbow extension, Camptodactyly, Premature osteoarth... OMIM:154700
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Retinal capillar... ORPHA:892
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Abruzzo-Erickson Syndrome
Toe syndactyly, Chorioretinal coloboma, Ulnar deviation of finger, Iris coloboma, Short toe, Colo... ORPHA:921
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation, Retinal coloboma, Joint contracture of the hand,... OMIM:244300
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Duane Retraction Syndrome
Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplastic iris strom... ORPHA:233
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Aland Island Eye Disease
Astigmatism, Hypoplasia of the fovea, Albinism OMIM:300600
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Obesity, Age... ORPHA:3157
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Dandy-Walker malformation, Buphthalmos, Broad eyebrow, Hirsutism, Low... ORPHA:495875
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... OMIM:607323
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa valga, Short phalanx of finger, ... OMIM:132450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Osteochondrosis, Iris coloboma, Aortic valve stenosis, Intrauterine growth retarda... ORPHA:268261
Norrie Disease
Aplasia/Hypoplasia of the cerebellum, Remnants of the hyaloid vascular system, Abnormal chorioret... ORPHA:649
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration, Polydactyly, Short long bone, Scoliosis, Brachydactyly OMIM:613819
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... OMIM:203200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Microphthalmi... ORPHA:2526
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis, Vitritis, Ir... OMIM:107320
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentation of the retina, Retinopathy, ... OMIM:180210
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardati... ORPHA:2510
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Retinitis Pigmentosa 2
Chorioretinal degeneration, Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head, Retinal dystrophy, Rod-cone dystrophy, Macular degen... OMIM:616629
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Retinal dystrophy, Corpus callosum atrophy, Cataract OMIM:614877
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Iris transillumination defect... ORPHA:352731
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Short 5th metacarpal, Juvenile cataract, Uncombable hair, Sp... ORPHA:1264
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Aplasia/Hypoplasia of the corpus callosum, Catara... ORPHA:3173
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Punctate ... ORPHA:1914
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, Talipes equinovarus, C2-C3 subluxation, Epiphyseal dysplasia, Limited elb... OMIM:272460
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Retinal detachment OMIM:223330
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Macular dystrophy, Aplasia/Hypoplasia of the cerebellu... ORPHA:225
Distal Monosomy 13Q
Optic atrophy, Anencephaly, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Abnormal form of ... ORPHA:1590
Microphthalmia, Syndromic 1
Joint contracture of the hand, Iris coloboma, Syndactyly, Camptodactyly, Abnormal palmar dermatog... OMIM:309800
Pelvis-Shoulder Dysplasia
Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Abnormal form of the vertebra... ORPHA:2839
Lissencephaly 5
Optic atrophy, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Hypoplasia of the ... OMIM:615191
Bardet-Biedl Syndrome 8
Obesity, Polydactyly, Rod-cone dystrophy OMIM:615985
Åland Islands Eye Disease
Astigmatism, Hypopigmentation of the fundus, Hypoplasia of the fovea ORPHA:178333
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, B... ORPHA:585
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormal eyebrow morphology, White ey... ORPHA:897
Bardet-Biedl Syndrome 1
Hypertension, Aganglionic megacolon, Retinal degeneration, Hirsutism, Postaxial polydactyly, Reti... OMIM:209900
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Abno... ORPHA:363417
Hydranencephaly
Stiff neck, Opisthotonus, Antenatal intracerebral hemorrhage, Intrauterine growth retardation, Op... ORPHA:2177
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Talipes equinovarus, Cataract, Progressive flexion contractures, Hypoplasia of the... OMIM:617481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Jacobsen Syndrome
Microcornea, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Intrauterine growth retardati... OMIM:147791
Trisomy 13
Optic atrophy, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia ... ORPHA:3378
Joubert Syndrome 15
Retinal dystrophy, Polydactyly, Retinopathy OMIM:614464
Lissencephaly 8
Optic atrophy, Talipes equinovarus, Hypoplasia of the brainstem, Cataract, Hypoplasia of the corp... OMIM:617255
8Q24.3 Microdeletion Syndrome
Branchial cyst, Retinal coloboma, Global brain atrophy, Gastrointestinal hemorrhage, Thoracic sco... ORPHA:508488
Phacoanaphylactic Uveitis
Retinal arteritis, Conjunctival hyperemia, Hypopyon, Tractional retinal detachment, Corneal kerat... ORPHA:209959
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Proteus Syndrome
Hallux valgus, Buphthalmos, Retinal nonattachment, Sirenomelia, Generalized hyperpigmentation, Ab... ORPHA:744
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Decreased cervical spine mobi... ORPHA:226307
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormality of secondary sexual hair, Polydactyly, Septo-optic dysplasia, Decreased cervical spin... ORPHA:95494
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Optic atrophy, Abnormality of retinal pigmentation, Sandal gap, Abnor... ORPHA:2715
Zika Virus Disease
Macular atrophy, Wrist swelling, Intrauterine growth retardation, Lens subluxation, Ankle swellin... ORPHA:448237
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Optic disc pallor, Hirsutism, Polydactyly, Failure to thrive, Synophrys, M... OMIM:618950
Cohen Syndrome
Cubitus valgus, Iris coloboma, Finger syndactyly, Abnormal eyelash morphology, Abnormality of ret... ORPHA:193
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Joubert Syndrome 20
Postaxial polydactyly, Syndactyly, Retinopathy, Abnormal retinal morphology OMIM:614970
Rhombencephalosynapsis
Aganglionic megacolon, Polydactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Finger ... ORPHA:59315
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Rod-cone dystrophy, Obesity, Short long bone, Brachydactyly OMIM:615633
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardation, Aplasia/Hyp... ORPHA:290
Marinesco-Sjögren Syndrome
Optic atrophy, Metatarsus valgus, Avascular necrosis of the capital femoral epiphysis, Abnormalit... ORPHA:559
3Q29 Microdeletion Syndrome
Microphthalmia, Tapered finger, Abnormality of skin pigmentation, Failure to thrive, Pulmonary ar... ORPHA:65286
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis, Microcephaly ORPHA:530983
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Broad palm, Small epiphyses, Optic disc pallor, Metaphyseal cupping ... OMIM:300232
Infantile Refsum Disease
Optic atrophy, Abnormality of epiphysis morphology, Failure to thrive, Facial palsy, Cardiomyopat... ORPHA:772
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Bowing of the long bones, Osteo... ORPHA:2801
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Bilateral single transverse palmar ... ORPHA:44
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy, Postaxial foot polydactyly, Pos... OMIM:615981
Developmental And Epileptic Encephalopathy 83
Highly arched eyebrow, Hypoplasia of the fovea, Genu valgum, Microcephaly, High anterior hairline... OMIM:618744
Cysticercosis
Abnormality of the vertebral column, Stiff neck, Chorioretinitis, Abnormality of optic chiasm mor... ORPHA:1560
Camptosynpolydactyly, Complex
Small nail, Polydactyly, Syndactyly, Nail dysplasia, Camptodactyly, Cutaneous syndactyly, Toenail... OMIM:607539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Retinal dysplasia, Hypoplasi... OMIM:615287
Gorlin Syndrome
Vertebral fusion, Hemivertebrae, Vertebral wedging, Palmar pits, Arachnodactyly, Iris coloboma, M... ORPHA:377
Craniosynostosis 4
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Pansynostosis OMIM:600775
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Communicating hydrocephalus, Iris coloboma OMIM:615219
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Clinodactyly, Short 5th finger, Hip dislocation, Cerebral atroph... OMIM:615583
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Horizontal eyebrow, Inferior vermis hypoplasia, Cataract, Astig... OMIM:618571
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Smal... OMIM:610756
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus, Coloboma, Obesity ORPHA:141333
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cerebellar hemisphere hypoplasia, Global brain atrophy, Transient ischemic attack, Hyperextensibi... ORPHA:500150
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Postaxial polydactyly OMIM:613094
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Seckel Syndrome 10
Hypertension, Cone-shaped epiphysis, Metaphyseal widening, Retinal detachment, Slender long bone,... OMIM:617253
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypoplasia of the pons, Cerebral cortical atr... ORPHA:1493
Joubert Syndrome 7
Postaxial polydactyly, Retinal dystrophy, Hypoplasia of the brainstem, Postaxial hand polydactyly... OMIM:611560
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Metatarsus adductus, Intrauterine growth retardation, Talipes equinovarus... OMIM:614866
Flynn-Aird Syndrome
Cachexia, Alopecia, Rod-cone dystrophy, Kyphosis, Cataract, Joint stiffness, Scoliosis, Cerebral ... ORPHA:2047
Khan-Khan-Katsanis Syndrome
Buphthalmos, Intrauterine growth retardation, Postaxial polydactyly, Corneal scarring, Failure to... OMIM:618460
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Toe syndactyly, Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, ... ORPHA:60040
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Metatarsus adductus, Intrauterine growth retardation, Talipes equinovarus... OMIM:214110
Retinitis Pigmentosa 89
Retinal thinning, Postaxial polydactyly, Rod-cone dystrophy, Hyperautofluorescent retinal lesion OMIM:618955
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Limb joint contracture, Hirsutism, Low anterior hairline, Tapered finger, Overlapp... OMIM:300004
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Axonal degeneration, Truncal tit... ORPHA:88628
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short finger, Juvenile cataract, Rod-cone dystrophy, Uncombable hair, Short proximal phalanx of f... OMIM:191482
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to t... OMIM:214150
Warburg Micro Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia, Low anterior hairline, Global brain atroph... OMIM:614225
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Hammertoe, Abnormality of epiphysis morpholo... ORPHA:773
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Hypomelanosis Of Ito
Alopecia, Clinodactyly, Kyphosis, Iris coloboma, Hand polydactyly, Radial deviation of finger, Sy... OMIM:300337
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal sacrum morpholog... ORPHA:2345
Refsum Disease, Classic
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Cataract, Sho... OMIM:266500
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Oculocutaneous Albinism
Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, Generalized hypopigmentation,... ORPHA:55
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal e... ORPHA:1021
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Holoprosencephaly 9
Partial agenesis of the corpus callosum, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic n... OMIM:610829
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, At... OMIM:612572
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly,... OMIM:610023
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation, Osteoporosis, Motor axonal neuropathy, Long eyel... ORPHA:48431
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Hypoplasia of the pons, Cataract, Cerebellar hypoplasia, Scoliosis, Cerebral corti... OMIM:619527
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Aganglionic megacolon, Abnormal vertebral morphology, Retinal coloboma, Re... ORPHA:220493
Coach Syndrome 2
Hypertension, Chorioretinal coloboma, Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Agen... OMIM:619111
Hermansky-Pudlak Syndrome 6
Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Absent foveal reflex OMIM:614075
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Intrauterine growth retardation, Abnormal eye... ORPHA:2518
Familial Benign Copper Deficiency
Early balding, Aplasia/Hypoplasia of the fovea, Diaphyseal thickening ORPHA:1551
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal hair morphology, Abnormal vertebral morphology, Finger syndactyly, Preax... ORPHA:64754
Tarp Syndrome
Optic atrophy, Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Failu... OMIM:311900
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration, Camptodactyly of finger OMIM:214980
Frontonasal Dysplasia 1
Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Cataract, Pectoral mus... OMIM:136760
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum, Hyperconvex fingerna... ORPHA:192
Aarskog-Scott Syndrome
Broad palm, High anterior hairline, Abnormal vertebral segmentation and fusion, Small hand, Abnor... ORPHA:915
Alg8-Cdg
Optic atrophy, Intrauterine growth retardation, Talipes equinovarus, Small for gestational age, F... ORPHA:79325
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... OMIM:604116
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Abnormality of the optic disc, Small cervical vertebral bodies, Cervical spi... ORPHA:397715
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... ORPHA:414
Cri-Du-Chat Syndrome
Optic atrophy, Metatarsus adductus, Small for gestational age, Short metatarsal, Premature grayin... OMIM:123450
Monosomy 9Q22.3
Abnormality of the vertebral column, Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits... ORPHA:77301
Retinitis Pigmentosa 56
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Kbg Syndrome
Vertebral fusion, Cutaneous syndactyly, Synophrys, Abnormal hair pattern, Cervical ribs, Thoracic... ORPHA:2332
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Retinal coloboma, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Ce... OMIM:616546
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Vertebral fusion, Anophthalmia, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... ORPHA:54
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Hirsutism, Rocker bottom foot, Postaxial polydactyly, Failure to thrive, Long fing... OMIM:617527
Werner Syndrome
Abnormal hair morphology, Osteoporosis, Retinal degeneration, Cataract OMIM:277700
Trisomy 18
Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of f... ORPHA:3380
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Intention tremor, Tortuosity of conjunctival vessels, Macular degeneration, Cataract, Ankle clonus ORPHA:284289
Muscle-Eye-Brain Disease
Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalu... ORPHA:588
Congenital Primary Aphakia
Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... ORPHA:83461
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal form of the vertebral bodies, Corneal opac... ORPHA:93399
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Aganglionic megacolon, Chorioretinal coloboma, Retinal dystrophy, Iris col... ORPHA:2318
Cockayne Syndrome B
Abnormal auditory evoked potentials, Abnormal hair morphology, Cerebral atrophy, Opacification of... OMIM:133540
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Optic atrophy, Highly arched eyebrow, Short metatarsal, Synophrys, Hitchhiker ... OMIM:605282
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Retinal degeneration, Irregular carpal bones, Aor... OMIM:252600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Scarring alopecia of scalp, 3-4 toe syndactyly, Sandal gap, Brachy... OMIM:618727
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, Microcornea ORPHA:2791
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Hypertension, Hirsutism, Carpal osteolysis, Osteolysis involving bones of the ... ORPHA:371428
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic toenails, Hypoplastic thumbnail, Short 3rd metacarpal, Short 5th metacarpal, Curved d... ORPHA:370010
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Reduced bone mineral density, Syndactyly, Abnormal pelvis bone morphol... ORPHA:1505
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Epiphyseal stippling, Sparse and thin eyebrow, Abnormality of pelvic girdle bon... OMIM:302960